Name

JCHAIN Gene

joining chain of multimeric IgA and IgM

FCAMR Gene

Fc receptor, IgA, IgM, high affinity

FCMR Gene

Fc fragment of IgM receptor

Fc receptors specifically bind to the Fc region of immunoglobulins (Igs) to mediate the unique functions of each Ig class. FAIM3 encodes an Fc receptor for IgM (see MIM 147020) (Kubagawa et al., 2009 [PubMed 19858324]; Shima et al., 2010 [PubMed 20042454]).[supplied by OMIM, Jul 2010]

IGLVI-38 Gene

immunoglobulin lambda variable (I)-38 (pseudogene)

IGKV1OR10-1 Gene

immunoglobulin kappa variable 1/OR10-1 (pseudogene)

LOC102724971 Gene

putative V-set and immunoglobulin domain-containing-like protein IGHV4OR15-8

IGHVII-60-1 Gene

immunoglobulin heavy variable (II)-60-1 (pseudogene)

IGHV1-8 Gene

immunoglobulin heavy variable 1-8

IGHV1-3 Gene

immunoglobulin heavy variable 1-3

IGHV1-2 Gene

immunoglobulin heavy variable 1-2

IGHD6-25 Gene

immunoglobulin heavy diversity 6-25

IGHV4-4 Gene

immunoglobulin heavy variable 4-4

IGKV1-12 Gene

immunoglobulin kappa variable 1-12

IGKV1-16 Gene

immunoglobulin kappa variable 1-16

IGKV1-17 Gene

immunoglobulin kappa variable 1-17

IGSF9B Gene

immunoglobulin superfamily, member 9B

IGHV5-78 Gene

immunoglobulin heavy variable 5-78 (pseudogene)

IGLV1-36 Gene

immunoglobulin lambda variable 1-36

LOC102725029 Gene

leukocyte immunoglobulin-like receptor subfamily B member 3

IGKV2-36 Gene

immunoglobulin kappa variable 2-36 (pseudogene)

IGKV2-30 Gene

immunoglobulin kappa variable 2-30

IGKV2-38 Gene

immunoglobulin kappa variable 2-38 (pseudogene)

IGHVIII-26-1 Gene

immunoglobulin heavy variable (III)-26-1 (pseudogene)

IGHV1-69-2 Gene

immunoglobulin heavy variable 1-69-2

IGHV1-45 Gene

immunoglobulin heavy variable 1-45

IGKDEL Gene

immunoglobulin kappa deleting element or like

RBPJL Gene

recombination signal binding protein for immunoglobulin kappa J region-like

This gene encodes a member of the suppressor of hairless protein family. A similar protein in mouse is a transcription factor that binds to DNA sequences almost identical to that bound by the Notch receptor signaling pathway transcription factor recombining binding protein J. The mouse protein has been shown to activate transcription in concert with Epstein-Barr virus nuclear antigen-2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

IGHV1-38-4 Gene

immunoglobulin heavy variable 1-38-4 (non-functional)

LOC101929818 Gene

killer cell immunoglobulin-like receptor 3DL1

IGKV2OR2-8 Gene

immunoglobulin kappa variable 2/OR2-8 (pseudogene)

IGBP1 Gene

immunoglobulin (CD79A) binding protein 1

The proliferation and differentiation of B cells is dependent upon a B-cell antigen receptor (BCR) complex. Binding of antigens to specific B-cell receptors results in a tyrosine phosphorylation reaction through the BCR complex and leads to multiple signal transduction pathways. [provided by RefSeq, Jul 2008]

IGSF10 Gene

immunoglobulin superfamily, member 10

KIR3DX1 Gene

killer cell immunoglobulin-like receptor, three domains, X1

IGKV2D-14 Gene

immunoglobulin kappa variable 2D-14 (pseudogene)

IGKV2D-10 Gene

immunoglobulin kappa variable 2D-10 (pseudogene)

IGKV2D-18 Gene

immunoglobulin kappa variable 2D-18 (pseudogene)

IGKV2D-19 Gene

immunoglobulin kappa variable 2D-19 (pseudogene)

LOC100289350 Gene

immunoglobulin superfamily, member 3 pseudogene

IGHEP2 Gene

immunoglobulin heavy constant epsilon P2 (pseudogene)

IGHEP1 Gene

immunoglobulin heavy constant epsilon P1 (pseudogene)

IGLL1 Gene

immunoglobulin lambda-like polypeptide 1

The preB cell receptor is found on the surface of proB and preB cells, where it is involved in transduction of signals for cellular proliferation, differentiation from the proB cell to the preB cell stage, allelic exclusion at the Ig heavy chain gene locus, and promotion of Ig light chain gene rearrangements. The preB cell receptor is composed of a membrane-bound Ig mu heavy chain in association with a heterodimeric surrogate light chain. This gene encodes one of the surrogate light chain subunits and is a member of the immunoglobulin gene superfamily. This gene does not undergo rearrangement. Mutations in this gene can result in B cell deficiency and agammaglobulinemia, an autosomal recessive disease in which few or no gamma globulins or antibodies are made. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

IGLL5 Gene

immunoglobulin lambda-like polypeptide 5

This gene encodes one of the immunoglobulin lambda-like polypeptides. It is located within the immunoglobulin lambda locus but it does not require somatic rearrangement for expression. The first exon of this gene is unrelated to immunoglobulin variable genes; the second and third exons are the immunoglobulin lambda joining 1 and the immunoglobulin lambda constant 1 gene segments. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

IGHD3OR15-3B Gene

immunoglobulin heavy diversity 3/OR15-3B (non-functional)

IGHD3OR15-3A Gene

immunoglobulin heavy diversity 3/OR15-3A (non-functional)

IGHV3OR16-7 Gene

immunoglobulin heavy variable 3/OR16-7 (pseudogene)

IGHV3-69-1 Gene

immunoglobulin heavy variable 3-69-1 (pseudogene)

IGLV5-45 Gene

immunoglobulin lambda variable 5-45

IGLV5-48 Gene

immunoglobulin lambda variable 5-48 (non-functional)

LOC102725015 Gene

leukocyte immunoglobulin-like receptor subfamily B member 3

LOC102724844 Gene

immunoglobulin superfamily member 3-like

IGHVII-22-1 Gene

immunoglobulin heavy variable (II)-22-1 (pseudogene)

IGKV3-11 Gene

immunoglobulin kappa variable 3-11

IGKV3-15 Gene

immunoglobulin kappa variable 3-15

IGSF8 Gene

immunoglobulin superfamily, member 8

This gene encodes a member the EWI subfamily of the immunoglobulin protein superfamily. Members of this family contain a single transmembrane domain, an EWI (Glu-Trp-Ile)-motif and a variable number of immunoglobulin domains. This protein interacts with the tetraspanins CD81 and CD9 and may regulate their role in certain cellular functions including cell migration and viral infection. The encoded protein may also function as a tumor suppressor by inhibiting the proliferation of certain cancers. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2011]

IGSF9 Gene

immunoglobulin superfamily, member 9

IGSF5 Gene

immunoglobulin superfamily, member 5

IGSF6 Gene

immunoglobulin superfamily, member 6

IGSF1 Gene

immunoglobulin superfamily, member 1

This gene encodes a member of the immunoglobulin-like domain-containing superfamily. Proteins in this superfamily contain varying numbers of immunoglobulin-like domains and are thought to participate in the regulation of interactions between cells. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]

IGSF3 Gene

immunoglobulin superfamily, member 3

LOC343052 Gene

immunoglobulin superfamily, DCC subclass, member 3 pseudogene

IGHV3-37 Gene

immunoglobulin heavy variable 3-37 (pseudogene)

IGHV3-36 Gene

immunoglobulin heavy variable 3-36 (pseudogene)

IGHV3-35 Gene

immunoglobulin heavy variable 3-35 (non-functional)

IGHV3-33 Gene

immunoglobulin heavy variable 3-33

IGHV3-32 Gene

immunoglobulin heavy variable 3-32 (pseudogene)

IGHV3-30 Gene

immunoglobulin heavy variable 3-30

IGHV3-38 Gene

immunoglobulin heavy variable 3-38 (non-functional)

IGKV1-13 Gene

immunoglobulin kappa variable 1-13 (gene/pseudogene)

IGKV3-7 Gene

immunoglobulin kappa variable 3-7 (non-functional)

IGHD6-19 Gene

immunoglobulin heavy diversity 6-19

IGHD6-13 Gene

immunoglobulin heavy diversity 6-13

IGHJ6 Gene

immunoglobulin heavy joining 6

IGHJ5 Gene

immunoglobulin heavy joining 5

IGHJ4 Gene

immunoglobulin heavy joining 4

IGHJ3 Gene

immunoglobulin heavy joining 3

IGHJ2 Gene

immunoglobulin heavy joining 2

IGHJ1 Gene

immunoglobulin heavy joining 1

ILDR2 Gene

immunoglobulin-like domain containing receptor 2

ILDR1 Gene

immunoglobulin-like domain containing receptor 1

This gene encodes a protein that contains an immunoglobulin-like domain. The encoded protein may function as a multimeric receptor at the cell surface. The expression of this gene may be a diagnostic marker for cancer progression. Alternatively spliced transcript variants encoding multiple protein isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]

IGLV8-61 Gene

immunoglobulin lambda variable 8-61

LOC100422538 Gene

recombination signal binding protein for immunoglobulin kappa J region pseudogene

IGLV2-28 Gene

immunoglobulin lambda variable 2-28 (pseudogene)

IGLV2-23 Gene

immunoglobulin lambda variable 2-23

IGSF6-DREV1 Gene

region containing immunoglobulin superfamily, member 6 and DREV1

ISLR Gene

immunoglobulin superfamily containing leucine-rich repeat

IGHV1-12 Gene

immunoglobulin heavy variable 1-12 (pseudogene)

IGHV1-14 Gene

immunoglobulin heavy variable 1-14 (pseudogene)

IGLL4P Gene

immunoglobulin lambda-like polypeptide 4, pseudogene

IGHV3OR16-13 Gene

immunoglobulin heavy variable 3/OR16-13 (non-functional)

IGAD1 Gene

immunoglobulin A (IgA) deficiency susceptibility 1

OSCAR Gene

osteoclast associated, immunoglobulin-like receptor

Osteoclasts are multinucleated cells that resorb bone and are essential for bone homeostasis. This gene encodes an osteoclast-associated receptor (OSCAR), which is a member of the leukocyte receptor complex protein family that plays critical roles in the regulation of both innate and adaptive immune responses. The encoded protein may play a role in oxidative stress-mediated atherogenesis as well as monocyte adhesion. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]

IGHV7-34-1 Gene

immunoglobulin heavy variable 7-34-1 (pseudogene)

IGHV3-30-2 Gene

immunoglobulin heavy variable 3-30-2 (pseudogene)

IGHV3-30-3 Gene

immunoglobulin heavy variable 3-30-3

IGHV3-30-5 Gene

immunoglobulin heavy variable 3-30-5

IGLVIV-53 Gene

immunoglobulin lambda variable (IV)-53 (pseudogene)

IGLVIV-59 Gene

immunoglobulin lambda variable (IV)-59 (pseudogene)

IGLVIVOR22-2 Gene

immunoglobulin lambda variable (IV)/OR22-2 (pseudogene)

IGLVIVOR22-1 Gene

immunoglobulin lambda variable (IV)/OR22-1 (pseudogene)

IGHV4-38-2 Gene

immunoglobulin heavy variable 4-38-2

IGHD2-2 Gene

immunoglobulin heavy diversity 2-2

IGHD2-8 Gene

immunoglobulin heavy diversity 2-8

IGKV2D-29 Gene

immunoglobulin kappa variable 2D-29

IGKV2D-28 Gene

immunoglobulin kappa variable 2D-28

IGKV2D-24 Gene

immunoglobulin kappa variable 2D-24 (non-functional)

IGKV2D-26 Gene

immunoglobulin kappa variable 2D-26

IGKV2D-23 Gene

immunoglobulin kappa variable 2D-23 (pseudogene)

IGKV1D-8 Gene

immunoglobulin kappa variable 1D-8

IGLV7-35 Gene

immunoglobulin lambda variable 7-35 (pseudogene)

IGHVII-49-1 Gene

immunoglobulin heavy variable (II)-49-1 (pseudogene)

IGHD3-9 Gene

immunoglobulin heavy diversity 3-9

IGHD3-3 Gene

immunoglobulin heavy diversity 3-3

IGHD3-3 belongs to a cluster of approximately 25 functional diversity (D) genes in the immunoglobulin (Ig) heavy chain locus on chromosome 14. For background information on the Ig heavy chain and the D gene cluster, see (MIM 146910).[supplied by OMIM, Apr 2008]

SIGIRR Gene

single immunoglobulin and toll-interleukin 1 receptor (TIR) domain

LOC105379645 Gene

killer cell immunoglobulin-like receptor 2DL2

IGHV1OR15-2 Gene

immunoglobulin heavy variable 1/OR15-2 (pseudogene)

IGHV1OR15-3 Gene

immunoglobulin heavy variable 1/OR15-3 (pseudogene)

IGHV1OR15-1 Gene

immunoglobulin heavy variable 1/OR15-1 (non-functional)

IGHV1OR15-6 Gene

immunoglobulin heavy variable 1/OR15-6 (pseudogene)

IGHV1OR15-4 Gene

immunoglobulin heavy variable 1/OR15-4 (pseudogene)

IGHV1OR15-9 Gene

immunoglobulin heavy variable 1/OR15-9 (non-functional)

IGHJ1P Gene

immunoglobulin heavy joining 1P (pseudogene)

LAIR1 Gene

leukocyte-associated immunoglobulin-like receptor 1

The protein encoded by this gene is an inhibitory receptor found on peripheral mononuclear cells, including natural killer cells, T cells, and B cells. Inhibitory receptors regulate the immune response to prevent lysis of cells recognized as self. The gene is a member of both the immunoglobulin superfamily and the leukocyte-associated inhibitory receptor family. The gene maps to a region of 19q13.4 called the leukocyte receptor cluster, which contains at least 29 genes encoding leukocyte-expressed receptors of the immunoglobulin superfamily. The encoded protein has been identified as an anchor for tyrosine phosphatase SHP-1, and may induce cell death in myeloid leukemias. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

LAIR2 Gene

leukocyte-associated immunoglobulin-like receptor 2

The protein encoded by this gene is a member of the immunoglobulin superfamily. It was identified by its similarity to leukocyte-associated immunoglobulin-like receptor 1, a membrane-bound receptor that modulates innate immune response. The protein encoded by this locus is a soluble receptor that may play roles in both inhibition of collagen-induced platelet aggregation and vessel formation during placental implantation. This gene maps to a region of 19q13.4, termed the leukocyte receptor cluster, which contains 29 genes in the immunoglobulin superfamily. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Sep 2013]

IGHG4 Gene

immunoglobulin heavy constant gamma 4 (G4m marker)

IGHG1 Gene

immunoglobulin heavy constant gamma 1 (G1m marker)

IGHG2 Gene

immunoglobulin heavy constant gamma 2 (G2m marker)

IGHG3 Gene

immunoglobulin heavy constant gamma 3 (G3m marker)

IGHGP Gene

immunoglobulin heavy constant gamma P (non-functional)

IGHVII-30-1 Gene

immunoglobulin heavy variable (II)-30-1 (pseudogene)

IGHV2-70 Gene

immunoglobulin heavy variable 2-70

IGKV1OR2-9 Gene

immunoglobulin kappa variable 1/OR2-9 (pseudogene)

IGKV1D-22 Gene

immunoglobulin kappa variable 1D-22 (pseudogene)

IGKV1D-27 Gene

immunoglobulin kappa variable 1D-27 (pseudogene)

IGLCOR22-1 Gene

immunoglobulin lambda constant/OR22-1 (pseudogene)

IGLCOR22-2 Gene

immunoglobulin lambda constant/OR22-2 (pseudogene)

IGHV3-48 Gene

immunoglobulin heavy variable 3-48

IGHV3-49 Gene

immunoglobulin heavy variable 3-49

IGHV3-47 Gene

immunoglobulin heavy variable 3-47 (pseudogene)

IGHV3-42 Gene

immunoglobulin heavy variable 3-42 (pseudogene)

IGHV3-43 Gene

immunoglobulin heavy variable 3-43

IGHV3-41 Gene

immunoglobulin heavy variable 3-41 (pseudogene)

IGLVI-56 Gene

immunoglobulin lambda variable (I)-56 (pseudogene)

IGHVII-26-2 Gene

immunoglobulin heavy variable (II)-26-2 (pseudogene)

IGKV2OR2-10 Gene

immunoglobulin kappa variable 2/OR2-10 (pseudogene)

LOC105379650 Gene

killer cell immunoglobulin-like receptor 2DS1

IGKV1ORY-1 Gene

immunoglobulin kappa variable 1/ORY-1 (pseudogene)

IGHV3-43D Gene

immunoglobulin heavy variable 3-43D

IGHVIII-44 Gene

immunoglobulin heavy variable (III)-44 (pseudogene)

IGHV3-11 Gene

immunoglobulin heavy variable 3-11 (gene/pseudogene)

IGLV10-54 Gene

immunoglobulin lambda variable 10-54

IGHVII-31-1 Gene

immunoglobulin heavy variable (II)-31-1 (pseudogene)

KIR2DS5 Gene

killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5

Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008]

1060P11.3 Gene

killer cell immunoglobulin-like receptor, three domains, pseudogene

KIR2DS2 Gene

killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2

Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. This gene represents a haplotype-specific family member that encodes a protein with a short cytoplasmic tail. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]

LOC100422604 Gene

leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 pseudogene

IGLV1-51 Gene

immunoglobulin lambda variable 1-51

IGLV1-50 Gene

immunoglobulin lambda variable 1-50 (non-functional)

IGHV7-40 Gene

immunoglobulin heavy variable 7-40 (pseudogene)

IGJP1 Gene

immunoglobulin J polypeptide pseudogene 1

WFIKKN2 Gene

WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2

The WFIKKN1 protein contains a WAP domain, follistatin domain, immunoglobulin domain, two tandem Kunitz domains, and an NTR domain. This gene encodes a WFIKKN1-related protein which has the same domain organization as the WFIKKN1 protein. The WAP-type, follistatin type, Kunitz-type, and NTR-type protease inhibitory domains may control the action of multiple types of proteases. [provided by RefSeq, Jul 2008]

WFIKKN1 Gene

WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1

This gene encodes a secreted multidomain protein consisting of a signal peptide, a WAP domain, a follistatin domain, an immunoglobulin domain, two tandem Kunitz domains, and an NTR domain. These domains have been implicated frequently in inhibition of various types of proteases, suggesting that the encoded protein may be a multivalent protease inhibitor and may control the action of multiple types of serine proteases as well as metalloproteinases. [provided by RefSeq, Jul 2008]

KIR3DL1 Gene

killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1

Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008]

KIR3DL2 Gene

killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2

Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. This gene is one of the "framework" loci that is present on all haplotypes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2011]

KIR3DL3 Gene

killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3

Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. This gene is one of the "framework" loci that is present on all haplotypes. [provided by RefSeq, Jul 2008]

IGHD3-22 Gene

immunoglobulin heavy diversity 3-22

LILRP1 Gene

leukocyte immunoglobulin-like receptor pseudogene 1

LILRP2 Gene

leukocyte immunoglobulin-like receptor pseudogene 2

IGLV7-46 Gene

immunoglobulin lambda variable 7-46 (gene/pseudogene)

IGLV7-43 Gene

immunoglobulin lambda variable 7-43

IGHVII-44-2 Gene

immunoglobulin heavy variable (II)-44-2 (pseudogene)

IGHVIII-2-1 Gene

immunoglobulin heavy variable (III)-2-1 (pseudogene)

IGHVIII-16-1 Gene

immunoglobulin heavy variable (III)-16-1 (pseudogene)

IGHV2-70D Gene

immunoglobulin heavy variable 2-70D

IGHV1-67 Gene

immunoglobulin heavy variable 1-67 (pseudogene)

IGHV1-68 Gene

immunoglobulin heavy variable 1-68 (pseudogene)

IGHV1-69 Gene

immunoglobulin heavy variable 1-69

IGHV4-39 Gene

immunoglobulin heavy variable 4-39

IGHV4-31 Gene

immunoglobulin heavy variable 4-31

LOC102725035 Gene

leukocyte immunoglobulin-like receptor subfamily B member 3

IGHJ3P Gene

immunoglobulin heavy joining 3P (pseudogene)

IGKC Gene

immunoglobulin kappa constant

IGBP1P1 Gene

immunoglobulin (CD79A) binding protein 1 pseudogene 1

IGBP1P2 Gene

immunoglobulin (CD79A) binding protein 1 pseudogene 2

IGBP1P3 Gene

immunoglobulin (CD79A) binding protein 1 pseudogene 3

IGBP1P4 Gene

immunoglobulin (CD79A) binding protein 1 pseudogene 4

IGBP1P5 Gene

immunoglobulin (CD79A) binding protein 1 pseudogene 5

IGLJCOR18 Gene

immunoglobulin lambda joining-constant/OR18 (pseudogene)

IGHD1-14 Gene

immunoglobulin heavy diversity 1-14 (non-functional)

IGHV2-26 Gene

immunoglobulin heavy variable 2-26

TMIGD3 Gene

transmembrane and immunoglobulin domain containing 3

This gene encodes a transmembrane and immunoglobulin domain-containing protein. Alternative splicing results in multiple transcript variants, one of which shares its 5' terminal exon with that of the overlapping adenosine A3 receptor gene (GeneID:140), thus resulting in a fusion product. [provided by RefSeq, Nov 2014]

TMIGD2 Gene

transmembrane and immunoglobulin domain containing 2

LOC102725023 Gene

killer cell immunoglobulin-like receptor 2DS3 allele 0020101

IGKV1OR15-118 Gene

immunoglobulin kappa variable 1/OR15-118 (pseudogene)

IGHD4-17 Gene

immunoglobulin heavy diversity 4-17

IGHD4-11 Gene

immunoglobulin heavy diversity 4-11 (non-functional)

IGHD2OR15-2B Gene

immunoglobulin heavy diversity 2/OR15-2B (non-functional)

IGHD2OR15-2A Gene

immunoglobulin heavy diversity 2/OR15-2A (non-functional)

IGKV3D-7 Gene

immunoglobulin kappa variable 3D-7

LOC102723407 Gene

putative V-set and immunoglobulin domain-containing-like protein IGHV4OR15-8

IGKV6D-41 Gene

immunoglobulin kappa variable 6D-41 (non-functional)

IGHV4OR15-8 Gene

immunoglobulin heavy variable 4/OR15-8 (non-functional)

IGHMBP2 Gene

immunoglobulin mu binding protein 2

This gene encodes a helicase superfamily member that binds a specific DNA sequence from the immunoglobulin mu chain switch region. Mutations in this gene lead to spinal muscle atrophy with respiratory distress type 1. [provided by RefSeq, Jul 2008]

IGLV3-32 Gene

immunoglobulin lambda variable 3-32 (non-functional)

IGLV3-31 Gene

immunoglobulin lambda variable 3-31 (pseudogene)

IGLV3-30 Gene

immunoglobulin lambda variable 3-30 (pseudogene)

IGSF11 Gene

immunoglobulin superfamily, member 11

IGSF11 is an immunoglobulin (Ig) superfamily member that is preferentially expressed in brain and testis. It shares significant homology with coxsackievirus and adenovirus receptor (CXADR; MIM 602621) and endothelial cell-selective adhesion molecule (ESAM).[supplied by OMIM, Apr 2005]

VSIG10L Gene

V-set and immunoglobulin domain containing 10 like

IGLV10-67 Gene

immunoglobulin lambda variable 10-67 (pseudogene)

IGKV2-4 Gene

immunoglobulin kappa variable 2-4 (pseudogene)

IGKV3-34 Gene

immunoglobulin kappa variable 3-34 (pseudogene)

IGKV3-31 Gene

immunoglobulin kappa variable 3-31 (pseudogene)

IGKV3OR2-5 Gene

immunoglobulin kappa variable 3/OR2-5 (pseudogene)

IGHV3-19 Gene

immunoglobulin heavy variable 3-19 (pseudogene)

IGHV3-15 Gene

immunoglobulin heavy variable 3-15

IGHV3-16 Gene

immunoglobulin heavy variable 3-16 (non-functional)

IGHV3-13 Gene

immunoglobulin heavy variable 3-13

IGLVI-20 Gene

immunoglobulin lambda variable (I)-20 (pseudogene)

KIR2DS4 Gene

killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4

Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008]

KIR2DS3 Gene

killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 3

Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008]

KIR2DS1 Gene

killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1

Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008]

IGHVII-43-1 Gene

immunoglobulin heavy variable (II)-43-1 (pseudogene)

IGDCC3 Gene

immunoglobulin superfamily, DCC subclass, member 3

IGDCC4 Gene

immunoglobulin superfamily, DCC subclass, member 4

LRIG3 Gene

leucine-rich repeats and immunoglobulin-like domains 3

LRIG2 Gene

leucine-rich repeats and immunoglobulin-like domains 2

LRIG1 Gene

leucine-rich repeats and immunoglobulin-like domains 1

IGHV4-55 Gene

immunoglobulin heavy variable 4-55 (pseudogene)

LOC391405 Gene

immunoglobulin kappa light chain variable region

IGKV1-27 Gene

immunoglobulin kappa variable 1-27

IGKV1-22 Gene

immunoglobulin kappa variable 1-22 (pseudogene)

IGHVIV-44-1 Gene

immunoglobulin heavy variable (IV)-44-1 (pseudogene)

LOC105371448 Gene

immunoglobulin superfamily DCC subclass member 3-like

IGHV4-34 Gene

immunoglobulin heavy variable 4-34

IGKV2-23 Gene

immunoglobulin kappa variable 2-23 (pseudogene)

IGKV2-26 Gene

immunoglobulin kappa variable 2-26 (pseudogene)

IGKV2-28 Gene

immunoglobulin kappa variable 2-28

IGKV2-29 Gene

immunoglobulin kappa variable 2-29 (gene/pseudogene)

IGKJ1 Gene

immunoglobulin kappa joining 1

IGKJ3 Gene

immunoglobulin kappa joining 3

IGKJ5 Gene

immunoglobulin kappa joining 5

IGKJ@ Gene

immunoglobulin kappa joining cluster

Immunoglobulins (Ig) are the antigen recognition molecules of B cells. An Ig molecule is made up of 2 identical heavy chains (see MIM 147100) and 2 identical light chains, either kappa or lambda (see MIM 147220), joined by disulfide bonds so that each heavy chain is linked to a light chain and the 2 heavy chains are linked together. The kappa and lambda light chains have no apparent functional differences. Each Ig kappa light chain has an N-terminal variable (V) region containing the antigen-binding site and a C-terminal constant (C) region, encoded by a C region gene (IGKC; MIM 147200), that provides signaling functions. The kappa light chain V region is encoded by 2 types of genes: V genes (see MIM 146980) and joining (J) genes. Random selection of just 1 gene of each type to assemble a V region accounts for the great diversity of V regions among Ig molecules. The kappa light chain locus on chromosome 2 contains approximately 40 functional V genes, followed by approximately 5 functional J genes. Due to polymorphism, the numbers of functional V and J genes differ among individuals (Janeway et al., 2005).[supplied by OMIM, Apr 2008]

IGHVIII-47-1 Gene

immunoglobulin heavy variable (III)-47-1 (pseudogene)

IGHD4OR15-4B Gene

immunoglobulin heavy diversity 4/OR15-4B (non-functional)

IGHD2-21 Gene

immunoglobulin heavy diversity 2-21

IGHVII-40-1 Gene

immunoglobulin heavy variable (II)-40-1 (pseudogene)

IGHD Gene

immunoglobulin heavy constant delta

IGLVVI-25-1 Gene

immunoglobulin lambda variable (VI)-25-1 (pseudogene)

IGHD1-20 Gene

immunoglobulin heavy diversity 1-20

IGHD1-26 Gene

immunoglobulin heavy diversity 1-26

IGHV6-1 Gene

immunoglobulin heavy variable 6-1

IGKV1OR-3 Gene

immunoglobulin kappa variable 1/OR-3 (pseudogene)

IGKV1OR-2 Gene

immunoglobulin kappa variable 1/OR-2 (pseudogene)

IGKV1OR-4 Gene

immunoglobulin kappa variable 1/OR-4 (pseudogene)

IGLVVII-41-1 Gene

immunoglobulin lambda variable (VII)-41-1 (pseudogene)

IGHVII-65-1 Gene

immunoglobulin heavy variable (II)-65-1 (pseudogene)

IGHE Gene

immunoglobulin heavy constant epsilon

IGHD6-6 Gene

immunoglobulin heavy diversity 6-6

ISLR2 Gene

immunoglobulin superfamily containing leucine-rich repeat 2

IGKV2OR22-3 Gene

immunoglobulin kappa variable 2/OR22-3 (pseudogene)

IGKV2OR22-4 Gene

immunoglobulin kappa variable 2/OR22-4 (pseudogene)

IGHVII-53-1 Gene

immunoglobulin heavy variable (II)-53-1 (pseudogene)

IGFN1 Gene

immunoglobulin-like and fibronectin type III domain containing 1

IGLV@ Gene

immunoglobulin lambda variable cluster

Immunoglobulins (Ig) are the antigen recognition molecules of B cells. An Ig molecule is made up of 2 identical heavy chains (see MIM 147100) and 2 identical light chains, either kappa (see MIM 147200) or lambda, joined by disulfide bonds so that each heavy chain is linked to a light chain and the 2 heavy chains are linked together. The kappa and lambda light chains have no apparent functional differences. Each Ig lambda light chain has an N-terminal variable (V) region containing the antigen-binding site and a C-terminal constant (C) region, encoded by a C region gene (IGLC1; MIM 147220), that provides signaling functions. The lambda light chain V region is encoded by 2 types of genes: V genes and joining (J) genes (see MIM 147230). Random selection of just 1 gene of each type to assemble a V region accounts for the great diversity of V regions among Ig molecules. The lambda light chain locus on chromosome 22 contains approximately 30 functional V genes, followed by approximately 4 functional J genes. Due to polymorphism, the numbers of functional V and J genes differ among individuals (Janeway et al., 2005).[supplied by OMIM, Apr 2008]

IGHV4-61 Gene

immunoglobulin heavy variable 4-61

IGHVII-62-1 Gene

immunoglobulin heavy variable (II)-62-1 (pseudogene)

IGHVII-20-1 Gene

immunoglobulin heavy variable (II)-20-1 (pseudogene)

IGHA2 Gene

immunoglobulin heavy constant alpha 2 (A2m marker)

IGHA1 Gene

immunoglobulin heavy constant alpha 1

LOC338667 Gene

V-set and immunoglobulin domain-containing protein 10-like

IGHVII-28-1 Gene

immunoglobulin heavy variable (II)-28-1 (pseudogene)

IGLV5-37 Gene

immunoglobulin lambda variable 5-37

IGLV5-39 Gene

immunoglobulin lambda variable 5-39

IGHV3OR16-12 Gene

immunoglobulin heavy variable 3/OR16-12 (non-functional)

IGHV3OR16-11 Gene

immunoglobulin heavy variable 3/OR16-11 (pseudogene)

IGHV3OR16-10 Gene

immunoglobulin heavy variable 3/OR16-10 (non-functional)

IGHV3OR16-16 Gene

immunoglobulin heavy variable 3/OR16-16 (pseudogene)

IGHV3OR16-15 Gene

immunoglobulin heavy variable 3/OR16-15 (pseudogene)

TIE1 Gene

tyrosine kinase with immunoglobulin-like and EGF-like domains 1

This gene encodes a member of the tyrosine protein kinase family. The encoded protein plays a critical role in angiogenesis and blood vessel stability by inhibiting angiopoietin 1 signaling through the endothelial receptor tyrosine kinase Tie2. Ectodomain cleavage of the encoded protein relieves inhibition of Tie2 and is mediated by multiple factors including vascular endothelial growth factor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

IGKV2-24 Gene

immunoglobulin kappa variable 2-24

BIVM Gene

basic, immunoglobulin-like variable motif containing

IGLV4-60 Gene

immunoglobulin lambda variable 4-60

IGLV4-69 Gene

immunoglobulin lambda variable 4-69

IGKJ2 Gene

immunoglobulin kappa joining 2

IGKJ4 Gene

immunoglobulin kappa joining 4

IGHV3-25 Gene

immunoglobulin heavy variable 3-25 (pseudogene)

IGHV3-20 Gene

immunoglobulin heavy variable 3-20

IGHV3-21 Gene

immunoglobulin heavy variable 3-21

IGHV3-22 Gene

immunoglobulin heavy variable 3-22 (pseudogene)

IGHV3-23 Gene

immunoglobulin heavy variable 3-23

IGHV3-23 belongs to a cluster of approximately 40 functional variable (V) genes in the immunoglobulin (Ig) heavy chain locus on chromosome 14. For background information on the Ig heavy chain and the V gene cluster, see (MIM 147070).[supplied by OMIM, Apr 2008]

IGLVI-70 Gene

immunoglobulin lambda variable (I)-70 (pseudogene)

IGHV3-29 Gene

immunoglobulin heavy variable 3-29 (pseudogene)

IGHV7-27 Gene

immunoglobulin heavy variable 7-27 (pseudogene)

IGLC4 Gene

immunoglobulin lambda constant 4 (pseudogene)

IGLC5 Gene

immunoglobulin lambda constant 5 (pseudogene)

IGLC6 Gene

immunoglobulin lambda constant 6 (Kern+Oz- marker, gene/pseudogene)

IGLC7 Gene

immunoglobulin lambda constant 7

IGLC1 Gene

immunoglobulin lambda constant 1 (Mcg marker)

IGLC2 Gene

immunoglobulin lambda constant 2 (Kern-Oz- marker)

IGLC3 Gene

immunoglobulin lambda constant 3 (Kern-Oz+ marker)

IGHV3OR15-7 Gene

immunoglobulin heavy variable 3/OR15-7 (pseudogene)

LOC390714 Gene

immunoglobulin heavy chain variable region

IGES Gene

immunoglobulin E concentration, serum

IGKV3D-20 Gene

immunoglobulin kappa variable 3D-20

IGKV3D-25 Gene

immunoglobulin kappa variable 3D-25 (pseudogene)

IGHVII-15-1 Gene

immunoglobulin heavy variable (II)-15-1 (pseudogene)

IGLVVI-22-1 Gene

immunoglobulin lambda variable (VI)-22-1 (pseudogene)

KIR3DS1 Gene

killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1

Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]

IGHVIII-25-1 Gene

immunoglobulin heavy variable (III)-25-1 (pseudogene)

IGLV2-34 Gene

immunoglobulin lambda variable 2-34 (pseudogene)

IGLV2-33 Gene

immunoglobulin lambda variable 2-33 (non-functional)

LOC100421901 Gene

immunoglobulin (CD79A) binding protein 1 pseudogene

IGHD4OR15-4A Gene

immunoglobulin heavy diversity 4/OR15-4A (non-functional)

IGHVIII-67-4 Gene

immunoglobulin heavy variable (III)-67-4 (pseudogene)

IGHVIII-67-2 Gene

immunoglobulin heavy variable (III)-67-2 (pseudogene)

IGHVIII-67-3 Gene

immunoglobulin heavy variable (III)-67-3 (pseudogene)

IGKV1OR2-3 Gene

immunoglobulin kappa variable 1/OR2-3 (pseudogene)

IGKV1OR2-0 Gene

immunoglobulin kappa variable 1/OR2-0 (non-functional)

IGKV1OR2-1 Gene

immunoglobulin kappa variable 1/OR2-1 (pseudogene)

IGKV1OR2-6 Gene

immunoglobulin kappa variable 1/OR2-6 (pseudogene)

IGLV6-57 Gene

immunoglobulin lambda variable 6-57

LOC102725034 Gene

leukocyte immunoglobulin-like receptor subfamily B member 3

CYAT1 Gene

immunoglobulin lambda light chain-like

IGHV3OR16-9 Gene

immunoglobulin heavy variable 3/OR16-9 (non-functional)

IGHV3OR16-8 Gene

immunoglobulin heavy variable 3/OR16-8 (non-functional)

IGHM Gene

immunoglobulin heavy constant mu

Immunoglobulins (Ig) are the antigen recognition molecules of B cells. An Ig molecule is made up of 2 identical heavy chains and 2 identical light chains (see MIM 147200) joined by disulfide bonds so that each heavy chain is linked to a light chain and the 2 heavy chains are linked together. Each Ig heavy chain has an N-terminal variable (V) region containing the antigen-binding site and a C-terminal constant (C) region, encoded by an individual C region gene, that determines the isotype of the antibody and provides effector or signaling functions. The heavy chain V region is encoded by 1 each of 3 types of genes: V genes (see MIM 147070), joining (J) genes (see MIM 147010), and diversity (D) genes (see MIM 146910). The C region genes are clustered downstream of the V region genes within the heavy chain locus on chromosome 14. The IGHM gene encodes the C region of the mu heavy chain, which defines the IgM isotype. Naive B cells express the transmembrane forms of IgM and IgD (see IGHD; MIM 1471770) on their surface. During an antibody response, activated B cells can switch to the expression of individual downstream heavy chain C region genes by a process of somatic recombination known as isotype switching. In addition, secreted Ig forms that act as antibodies can be produced by alternative RNA processing of the heavy chain C region sequences. Although the membrane forms of all Ig isotypes are monomeric, secreted IgM forms pentamers, and occasionally hexamers, in plasma (summary by Janeway et al., 2005).[supplied by OMIM, Aug 2010]

IGHV1OR15-5 Gene

immunoglobulin heavy variable 1/OR15-5 (non-functional)

IGHV2-5 Gene

immunoglobulin heavy variable 2-5

IGLL3P Gene

immunoglobulin lambda-like polypeptide 3, pseudogene

IGHV4-59 Gene

immunoglobulin heavy variable 4-59

IGKV1OR22-1 Gene

immunoglobulin kappa variable 1/OR22-1 (pseudogene)

IGKV1OR22-5 Gene

immunoglobulin kappa variable 1/OR22-5 (pseudogene)

IGKV6D-21 Gene

immunoglobulin kappa variable 6D-21 (non-functional)

IGHV3-33-2 Gene

immunoglobulin heavy variable 3-33-2 (pseudogene)

LOC100887081 Gene

leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6 pseudogene

LOC102725031 Gene

leukocyte immunoglobulin-like receptor subfamily B member 3

IGHVIII-22-2 Gene

immunoglobulin heavy variable (III)-22-2 (pseudogene)

IGKV1D-39 Gene

immunoglobulin kappa variable 1D-39

IGKV1D-33 Gene

immunoglobulin kappa variable 1D-33

IGKV1D-32 Gene

immunoglobulin kappa variable 1D-32 (pseudogene)

IGKV1D-35 Gene

immunoglobulin kappa variable 1D-35 (pseudogene)

IGKV1D-37 Gene

immunoglobulin kappa variable 1D-37 (non-functional)

KIR2DL5B Gene

killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5B

Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008]

KIR2DL5A Gene

killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5A

Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008]

IGHV3-79 Gene

immunoglobulin heavy variable 3-79 (pseudogene)

IGHV3-73 Gene

immunoglobulin heavy variable 3-73

IGHV3-72 Gene

immunoglobulin heavy variable 3-72

IGHV3-71 Gene

immunoglobulin heavy variable 3-71 (pseudogene)

IGHV3-76 Gene

immunoglobulin heavy variable 3-76 (pseudogene)

IGHV3-75 Gene

immunoglobulin heavy variable 3-75 (pseudogene)

IGHV3-74 Gene

immunoglobulin heavy variable 3-74

IGLVI-42 Gene

immunoglobulin lambda variable (I)-42 (pseudogene)

IGLV8OR8-1 Gene

immunoglobulin lambda variable 8/OR8-1 (pseudogene)

IGKV1OR2-108 Gene

immunoglobulin kappa variable 1/OR2-108 (non-functional)

IGHV3OR16-14 Gene

immunoglobulin heavy variable 3/OR16-14 (pseudogene)

IGHV3OR16-6 Gene

immunoglobulin heavy variable 3/OR16-6 (pseudogene)

IGHV3-7 Gene

immunoglobulin heavy variable 3-7

IGHV3-6 Gene

immunoglobulin heavy variable 3-6 (pseudogene)

IGHV3-9 Gene

immunoglobulin heavy variable 3-9

IGHVIII-51-1 Gene

immunoglobulin heavy variable (III)-51-1 (pseudogene)

IGHV1-46 Gene

immunoglobulin heavy variable 1-46

IGLV3-10 Gene

immunoglobulin lambda variable 3-10

IGLV3-13 Gene

immunoglobulin lambda variable 3-13 (pseudogene)

IGLV3-12 Gene

immunoglobulin lambda variable 3-12

IGLV3-15 Gene

immunoglobulin lambda variable 3-15 (pseudogene)

IGLV3-17 Gene

immunoglobulin lambda variable 3-17 (pseudogene)

IGLV3-16 Gene

immunoglobulin lambda variable 3-16

IGLV3-19 Gene

immunoglobulin lambda variable 3-19

IGKV1OR2-11 Gene

immunoglobulin kappa variable 1/OR2-11 (pseudogene)

IGKV3D-11 Gene

immunoglobulin kappa variable 3D-11

IGKV3D-15 Gene

immunoglobulin kappa variable 3D-15 (gene/pseudogene)

IGHDOR15@ Gene

immunoglobulin heavy diversity orphans on chromosome 15

LILRB5 Gene

leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5

This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). Several other LIR subfamily B receptors are expressed on immune cells where they bind to MHC class I molecules on antigen-presenting cells and inhibit stimulation of an immune response. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

LILRB4 Gene

leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4

This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). The receptor is expressed on immune cells where it binds to MHC class I molecules on antigen-presenting cells and transduces a negative signal that inhibits stimulation of an immune response. The receptor can also function in antigen capture and presentation. It is thought to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

LILRB3 Gene

leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3

This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). The receptor is expressed on immune cells where it binds to MHC class I molecules on antigen-presenting cells and transduces a negative signal that inhibits stimulation of an immune response. It is thought to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

LILRB2 Gene

leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2

This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). The receptor is expressed on immune cells where it binds to MHC class I molecules on antigen-presenting cells and transduces a negative signal that inhibits stimulation of an immune response. It is thought to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

LILRB1 Gene

leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1

This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). The receptor is expressed on immune cells where it binds to MHC class I molecules on antigen-presenting cells and transduces a negative signal that inhibits stimulation of an immune response. It is thought to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

IGLV1-41 Gene

immunoglobulin lambda variable 1-41 (pseudogene)

IGLV1-44 Gene

immunoglobulin lambda variable 1-44

IGLV1-47 Gene

immunoglobulin lambda variable 1-47

LOC105379662 Gene

killer cell immunoglobulin-like receptor 2DS1

IGKV2-40 Gene

immunoglobulin kappa variable 2-40

IGHV7-4-1 Gene

immunoglobulin heavy variable 7-4-1

IGHD1-7 Gene

immunoglobulin heavy diversity 1-7

IGHD1-1 Gene

immunoglobulin heavy diversity 1-1

IGKV1-5 Gene

immunoglobulin kappa variable 1-5

IGKV2OR2-2 Gene

immunoglobulin kappa variable 2/OR2-2 (pseudogene)

IGKV2OR2-1 Gene

immunoglobulin kappa variable 2/OR2-1 (pseudogene)

IGKV2OR2-7 Gene

immunoglobulin kappa variable 2/OR2-7 (pseudogene)

IGKV2OR2-4 Gene

immunoglobulin kappa variable 2/OR2-4 (pseudogene)

IGHD3-16 Gene

immunoglobulin heavy diversity 3-16

IGHD3-10 Gene

immunoglobulin heavy diversity 3-10

IGHV1OR16-1 Gene

immunoglobulin heavy variable 1/OR16-1 (pseudogene)

IGHV1OR16-3 Gene

immunoglobulin heavy variable 1/OR16-3 (pseudogene)

IGHV1OR16-2 Gene

immunoglobulin heavy variable 1/OR16-2 (pseudogene)

IGHV1OR16-4 Gene

immunoglobulin heavy variable 1/OR16-4 (pseudogene)

IGKV6-21 Gene

immunoglobulin kappa variable 6-21 (non-functional)

IGHV1-58 Gene

immunoglobulin heavy variable 1-58

MILR1 Gene

mast cell immunoglobulin-like receptor 1

IGHJ2P Gene

immunoglobulin heavy joining 2P (pseudogene)

IGHVIII-76-1 Gene

immunoglobulin heavy variable (III)-76-1 (pseudogene)

LOC102724123 Gene

immunoglobulin superfamily member 3-like

IGHV2OR16-5 Gene

immunoglobulin heavy variable 2/OR16-5 (non-functional)

IGKV1OR9-1 Gene

immunoglobulin kappa variable 1/OR9-1 (pseudogene)

RBPJ Gene

recombination signal binding protein for immunoglobulin kappa J region

The protein encoded by this gene is a transcriptional regulator important in the Notch signaling pathway. The encoded protein acts as a repressor when not bound to Notch proteins and an activator when bound to Notch proteins. It is thought to function by recruiting chromatin remodeling complexes containing histone deacetylase or histone acetylase proteins to Notch signaling pathway genes. Several transcript variants encoding different isoforms have been found for this gene, and several pseudogenes of this gene exist on chromosome 9. [provided by RefSeq, Oct 2013]

IGHD4-23 Gene

immunoglobulin heavy diversity 4-23 (non-functional)

IGHV4-80 Gene

immunoglobulin heavy variable 4-80 (pseudogene)

IGHV7-81 Gene

immunoglobulin heavy variable 7-81 (non-functional)

IGHV1-24 Gene

immunoglobulin heavy variable 1-24

IGHD4-4 Gene

immunoglobulin heavy diversity 4-4

IGLV3-29 Gene

immunoglobulin lambda variable 3-29 (pseudogene)

IGLV3-21 Gene

immunoglobulin lambda variable 3-21

IGLV3-22 Gene

immunoglobulin lambda variable 3-22 (gene/pseudogene)

IGLV3-24 Gene

immunoglobulin lambda variable 3-24 (pseudogene)

IGLV3-25 Gene

immunoglobulin lambda variable 3-25

IGLV3-26 Gene

immunoglobulin lambda variable 3-26 (pseudogene)

IGLV3-27 Gene

immunoglobulin lambda variable 3-27

IGHD5OR15-5B Gene

immunoglobulin heavy diversity 5/OR15-5B (non-functional)

IGHD5OR15-5A Gene

immunoglobulin heavy diversity 5/OR15-5A (non-functional)

IGLV5-52 Gene

immunoglobulin lambda variable 5-52

LILRA6 Gene

leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6

LILRA4 Gene

leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4

This gene encodes an immunoglobulin-like cell surface protein that is expressed predominantly on plasmacytoid dendritic cells (PDCs) and modulates the function of these cells in the immune response. Expression of this gene is downregulated by interleukin 3 (IL3). This gene is one of a cluster of highly related genes located at chromosomal region 19q13.4. [provided by RefSeq, Jan 2015]

LILRA5 Gene

leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5

The protein encoded by this gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family. LIR family members are known to have activating and inibitory functions in leukocytes. Crosslink of this receptor protein on the surface of monocytes has been shown to induce calcium flux and secretion of several proinflammatory cytokines, which suggests the roles of this protein in triggering innate immune responses. This gene is one of the leukocyte receptor genes that form a gene cluster on the chromosomal region 19q13.4. Four alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]

LILRA2 Gene

leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2

This gene encodes a member of a family of immunoreceptors that are expressed predominantly on monocytes and B cells, and at lower levels on dendritic cells and natural killer cells. The encoded protein is an activating receptor that inhibits dendritic cell differentiation and antigen presentation and suppresses innate immune response. Alternatively spliced transcript variants encoding different isoforms have been found. This gene is located in a cluster of related genes on chromosome 19 and there is a pseudogene for this gene on chromosome 3. [provided by RefSeq, Mar 2014]

LILRA3 Gene

leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3

This gene encodes a member of a family of immunoreceptors that are expressed predominantly in monocytes and B cells, and at lower levels in dendritic cells and natural killer cells. The encoded protein lacks the transmembrane region found in other members of this family. It acts as a soluble receptor for class I major histocompatibility complex (MHC) antigens. Alternatively spliced transcript variants encoding different isoforms have been found. This gene is located in a cluster of related genes on chromosome 19 and is polymorphic in human populations, with many individuals containing a deletion of this genomic region. [provided by RefSeq, Mar 2014]

LILRA1 Gene

leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1

This gene encodes an activating member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein is predominantly expressed in B cells, interacts with major histocompatibility complex class I ligands, and contributes to the regulation of immune responses. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]

IGHD1OR15-1B Gene

immunoglobulin heavy diversity 1/OR15-1B (non-functional)

IGHD1OR15-1A Gene

immunoglobulin heavy diversity 1/OR15-1A (non-functional)

IGHVII-78-1 Gene

immunoglobulin heavy variable (II)-78-1 (pseudogene)

IGHV1OR21-1 Gene

immunoglobulin heavy variable 1/OR21-1 (non-functional)

IGHD5-18 Gene

immunoglobulin heavy diversity 5-18

IGHD5-12 Gene

immunoglobulin heavy diversity 5-12

PIGR Gene

polymeric immunoglobulin receptor

This gene is a member of the immunoglobulin superfamily. The encoded poly-Ig receptor binds polymeric immunoglobulin molecules at the basolateral surface of epithelial cells; the complex is then transported across the cell to be secreted at the apical surface. A significant association was found between immunoglobulin A nephropathy and several SNPs in this gene.[provided by RefSeq, Sep 2009]

IGKV1-35 Gene

immunoglobulin kappa variable 1-35 (pseudogene)

IGKV1-37 Gene

immunoglobulin kappa variable 1-37 (non-functional)

IGKV1-32 Gene

immunoglobulin kappa variable 1-32 (pseudogene)

IGKV1-33 Gene

immunoglobulin kappa variable 1-33

IGKV1-39 Gene

immunoglobulin kappa variable 1-39 (gene/pseudogene)

LOC105379433 Gene

immunoglobulin superfamily member 2-like

IGHVIII-5-2 Gene

immunoglobulin heavy variable (III)-5-2 (pseudogene)

IGHVIII-5-1 Gene

immunoglobulin heavy variable (III)-5-1 (pseudogene)

IGHV5-51 Gene

immunoglobulin heavy variable 5-51

IGHD5-5 Gene

immunoglobulin heavy diversity 5-5

IGLV2-11 Gene

immunoglobulin lambda variable 2-11

IGLV2-14 Gene

immunoglobulin lambda variable 2-14

IGLV2-18 Gene

immunoglobulin lambda variable 2-18

IGKV1-6 Gene

immunoglobulin kappa variable 1-6

IGKV1-8 Gene

immunoglobulin kappa variable 1-8

IGKV1-9 Gene

immunoglobulin kappa variable 1-9

IGHV3-64D Gene

immunoglobulin heavy variable 3-64D

IGHV3-38-3 Gene

immunoglobulin heavy variable 3-38-3 (non-functional)

PVRIG Gene

poliovirus receptor related immunoglobulin domain containing

IGHV4-30-4 Gene

immunoglobulin heavy variable 4-30-4

IGHV4-30-2 Gene

immunoglobulin heavy variable 4-30-2

IGHV4-30-1 Gene

immunoglobulin heavy variable 4-30-1

IGKV2-19 Gene

immunoglobulin kappa variable 2-19 (pseudogene)

IGKV2-18 Gene

immunoglobulin kappa variable 2-18 (pseudogene)

IGKV2-14 Gene

immunoglobulin kappa variable 2-14 (pseudogene)

IGKV2-10 Gene

immunoglobulin kappa variable 2-10 (pseudogene)

IGHVIII-38-1 Gene

immunoglobulin heavy variable (III)-38-1 (pseudogene)

IGHVIII-82 Gene

immunoglobulin heavy variable (III)-82 (pseudogene)

IGLV11-55 Gene

immunoglobulin lambda variable 11-55 (non-functional)

IGLVIV-65 Gene

immunoglobulin lambda variable (IV)-65 (pseudogene)

IGLVIV-64 Gene

immunoglobulin lambda variable (IV)-64 (pseudogene)

IGLV1-40 Gene

immunoglobulin lambda variable 1-40

IGHVII-33-1 Gene

immunoglobulin heavy variable (II)-33-1 (pseudogene)

IGKV2D-38 Gene

immunoglobulin kappa variable 2D-38 (pseudogene)

IGKV2D-36 Gene

immunoglobulin kappa variable 2D-36 (pseudogene)

IGKV2D-30 Gene

immunoglobulin kappa variable 2D-30

IGHV5-10-1 Gene

immunoglobulin heavy variable 5-10-1

IGKV2OR2-7D Gene

immunoglobulin kappa variable 2/OR2-7D (pseudogene)

LOC105369139 Gene

killer cell immunoglobulin-like receptor 2DS3

IGLV9-49 Gene

immunoglobulin lambda variable 9-49

IGLV2-8 Gene

immunoglobulin lambda variable 2-8

IGLV2-5 Gene

immunoglobulin lambda variable 2-5 (pseudogene)

CD79B Gene

CD79b molecule, immunoglobulin-associated beta

The B lymphocyte antigen receptor is a multimeric complex that includes the antigen-specific component, surface immunoglobulin (Ig). Surface Ig non-covalently associates with two other proteins, Ig-alpha and Ig-beta, which are necessary for expression and function of the B-cell antigen receptor. This gene encodes the Ig-beta protein of the B-cell antigen component. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

CD79A Gene

CD79a molecule, immunoglobulin-associated alpha

The B lymphocyte antigen receptor is a multimeric complex that includes the antigen-specific component, surface immunoglobulin (Ig). Surface Ig non-covalently associates with two other proteins, Ig-alpha and Ig-beta, which are necessary for expression and function of the B-cell antigen receptor. This gene encodes the Ig-alpha protein of the B-cell antigen component. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

IGLJ@ Gene

immunoglobulin lambda joining cluster

Immunoglobulins (Ig) are the antigen recognition molecules of B cells. An Ig molecule is made up of 2 identical heavy chains (see MIM 147100) and 2 identical light chains, either kappa (see MIM 147200) or lambda, joined by disulfide bonds so that each heavy chain is linked to a light chain and the 2 heavy chains are linked together. The kappa and lambda light chains have no apparent functional differences. Each Ig lambda light chain has an N-terminal variable (V) region containing the antigen-binding site and a C-terminal constant (C) region, encoded by a C region gene (IGLC1; MIM 147220), that provides signaling functions. The lambda light chain V region is encoded by 2 types of genes: V genes (see MIM 147240) and joining (J) genes. Random selection of just 1 gene of each type to assemble a V region accounts for the great diversity of V regions among Ig molecules. The lambda light chain locus on chromosome 22 contains approximately 30 functional V genes, followed by approximately 4 functional J genes. Due to polymorphism, the numbers of functional V and J genes differ among individuals (Janeway et al., 2005).[supplied by OMIM, Apr 2008]

IGLJ3 Gene

immunoglobulin lambda joining 3

IGLJ2 Gene

immunoglobulin lambda joining 2

IGLJ1 Gene

immunoglobulin lambda joining 1

IGLJ7 Gene

immunoglobulin lambda joining 7

IGLJ6 Gene

immunoglobulin lambda joining 6

IGLJ5 Gene

immunoglobulin lambda joining 5 (non-functional)

IGLJ4 Gene

immunoglobulin lambda joining 4 (non-functional)

IGKV3OR2-268 Gene

immunoglobulin kappa variable 3/OR2-268 (non-functional)

LRIT2 Gene

leucine-rich repeat, immunoglobulin-like and transmembrane domains 2

LRIT3 Gene

leucine-rich repeat, immunoglobulin-like and transmembrane domains 3

This gene encodes a protein that has a fibronectin type III domain and a C-terminal transmembrane domain, as well as a leucine-rich repeat domain and immunoglobulin-like domain near the N-terminus. The encoded protein may regulate fibroblast growth factor receptors and affect the modification of these receptors, which are glycosylated differently in the Golgi and endoplasmic reticulum. Mutations in this gene are associated with congenital stationary night blindness, type 1F. [provided by RefSeq, May 2013]

LRIT1 Gene

leucine-rich repeat, immunoglobulin-like and transmembrane domains 1

IGHVIII-11-1 Gene

immunoglobulin heavy variable (III)-11-1 (pseudogene)

IGHVIII-13-1 Gene

immunoglobulin heavy variable (III)-13-1 (pseudogene)

IGHVII-46-1 Gene

immunoglobulin heavy variable (II)-46-1 (pseudogene)

IGHVII-1-1 Gene

immunoglobulin heavy variable (II)-1-1 (pseudogene)

IGKV1D-17 Gene

immunoglobulin kappa variable 1D-17

IGKV1D-16 Gene

immunoglobulin kappa variable 1D-16

IGKV1D-13 Gene

immunoglobulin kappa variable 1D-13

IGKV1D-12 Gene

immunoglobulin kappa variable 1D-12

IGHD7-27 Gene

immunoglobulin heavy diversity 7-27

IGLVV-66 Gene

immunoglobulin lambda variable (V)-66 (pseudogene)

IGHV3-50 Gene

immunoglobulin heavy variable 3-50 (pseudogene)

IGHV3-53 Gene

immunoglobulin heavy variable 3-53

IGHV3-52 Gene

immunoglobulin heavy variable 3-52 (pseudogene)

IGHV3-54 Gene

immunoglobulin heavy variable 3-54 (pseudogene)

IGHV3-57 Gene

immunoglobulin heavy variable 3-57 (pseudogene)

IGLVI-63 Gene

immunoglobulin lambda variable (I)-63 (pseudogene)

IGLVI-68 Gene

immunoglobulin lambda variable (I)-68 (pseudogene)

SEMA3A Gene

sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A

This gene is a member of the semaphorin family and encodes a protein with an Ig-like C2-type (immunoglobulin-like) domain, a PSI domain and a Sema domain. This secreted protein can function as either a chemorepulsive agent, inhibiting axonal outgrowth, or as a chemoattractive agent, stimulating the growth of apical dendrites. In both cases, the protein is vital for normal neuronal pattern development. Increased expression of this protein is associated with schizophrenia and is seen in a variety of human tumor cell lines. Also, aberrant release of this protein is associated with the progression of Alzheimer's disease. [provided by RefSeq, Jul 2008]

SEMA3C Gene

sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C

SEMA3B Gene

sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B

The protein encoded by this gene belongs to the class-3 semaphorin/collapsin family, whose members function in growth cone guidance during neuronal development. This family member inhibits axonal extension and has been shown to act as a tumor suppressor by inducing apoptosis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2014]

SEMA3E Gene

sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E

Semaphorins are a large family of conserved secreted and membrane associated proteins which possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Based on sequence and structural similarities, semaphorins are put into eight classes: invertebrates contain classes 1 and 2, viruses have class V, and vertebrates contain classes 3-7. Semaphorins serve as axon guidance ligands via multimeric receptor complexes, some (if not all) containing plexin proteins. This gene encodes a class 4 semaphorin. This gene encodes a class 3 semaphorin. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]

SEMA3D Gene

sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D

SEMA3G Gene

sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G

SEMA3F Gene

sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F

The semaphorins are a family of proteins that are involved in signaling. All the family members have a secretion signal, a 500-amino acid sema domain, and 16 conserved cysteine residues (Kolodkin et al., 1993 [PubMed 8269517]). Sequence comparisons have grouped the secreted semaphorins into 3 general classes, all of which also have an immunoglobulin domain. The semaphorin III family, consisting of human semaphorin III (SEMA3A; MIM 603961), chicken collapsin, and mouse semaphorins A, D, and E, all have a basic domain at the C terminus. Chicken collapsin contributes to path finding by axons during development by inhibiting extension of growth cones (Luo et al., 1993 [PubMed 8402908]) through an interaction with a collapsin response mediator protein of relative molecular mass 62K (CRMP62) (Goshima et al., 1995 [PubMed 7637782]), a putative homolog of an axonal guidance associated UNC33 gene product (MIM 601168). SEMA3F is a secreted member of the semaphorin III family.[supplied by OMIM, Mar 2008]

IGHVII-67-1 Gene

immunoglobulin heavy variable (II)-67-1 (pseudogene)

IGKV@ Gene

immunoglobulin kappa variable cluster

Immunoglobulins (Ig) are the antigen recognition molecules of B cells. An Ig molecule is made up of 2 identical heavy chains (see MIM 147100) and 2 identical light chains, either kappa or lambda (see MIM 147220), joined by disulfide bonds so that each heavy chain is linked to a light chain and the 2 heavy chains are linked together. The kappa and lambda light chains have no apparent functional differences. Each Ig kappa light chain has an N-terminal variable (V) region containing the antigen-binding site and a C-terminal constant (C) region, encoded by a C region gene (IGKC; MIM 147200), that provides signaling functions. The kappa light chain V region is encoded by 2 types of genes: V genes and joining (J) genes (see MIM 146970). Random selection of just 1 gene of each type to assemble a V region accounts for the great diversity of V regions among Ig molecules. The kappa light chain locus on chromosome 2 contains approximately 40 functional V genes, followed by approximately 5 functional J genes. Due to polymorphism, the numbers of functional V and J genes differ among individuals (Janeway et al., 2005).[supplied by OMIM, Apr 2008]

IGHD5-24 Gene

immunoglobulin heavy diversity 5-24 (non-functional)

IGLV3-4 Gene

immunoglobulin lambda variable 3-4 (pseudogene)

IGLV3-7 Gene

immunoglobulin lambda variable 3-7 (pseudogene)

IGLV3-6 Gene

immunoglobulin lambda variable 3-6 (pseudogene)

IGLV3-1 Gene

immunoglobulin lambda variable 3-1

IGLV3-2 Gene

immunoglobulin lambda variable 3-2 (pseudogene)

IGLV3-9 Gene

immunoglobulin lambda variable 3-9 (gene/pseudogene)

IGHVII-74-1 Gene

immunoglobulin heavy variable (II)-74-1 (pseudogene)

IGKV3D-34 Gene

immunoglobulin kappa variable 3D-34 (pseudogene)

IGKV3D-31 Gene

immunoglobulin kappa variable 3D-31 (pseudogene)

KIR3DP1 Gene

killer cell immunoglobulin-like receptor, three domains, pseudogene 1

Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. This gene is one of the "framework" loci that is present on all haplotypes. This gene is considered to be a pseudogene based on the absence of transcription and it lacks several functional domains compared to other killer cell immunoglobulin-like receptors. A rare haplotype, the result of a recombinantion event, has two copies of this gene, one of which may encode a secreted protein. (PMID: 15580659)[provided by RefSeq, Mar 2011]

VSIG10 Gene

V-set and immunoglobulin domain containing 10

LOC642131 Gene

putative V-set and immunoglobulin domain-containing-like protein IGHV4OR15-8

IGKV3OR22-2 Gene

immunoglobulin kappa variable 3/OR22-2 (pseudogene)

LOC100631370 Gene

immunoglobulin superfamily, DCC subclass, member 3 pseudogene

IGLV1-62 Gene

immunoglobulin lambda variable 1-62 (pseudogene)

TIMD4 Gene

T-cell immunoglobulin and mucin domain containing 4

IGHV7-56 Gene

immunoglobulin heavy variable 7-56 (pseudogene)

IGKV5-2 Gene

immunoglobulin kappa variable 5-2

IGKV7-3 Gene

immunoglobulin kappa variable 7-3 (pseudogene)

IGKV2D-40 Gene

immunoglobulin kappa variable 2D-40

IGLVIV-66-1 Gene

immunoglobulin lambda variable (IV)-66-1 (pseudogene)

VSIG8 Gene

V-set and immunoglobulin domain containing 8

VSIG4 Gene

V-set and immunoglobulin domain containing 4

This gene encodes a v-set and immunoglobulin-domain containing protein that is structurally related to the B7 family of immune regulatory proteins. The encoded protein may be a negative regulator of T-cell responses. This protein is also a receptor for the complement component 3 fragments C3b and iC3b. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

VSIG2 Gene

V-set and immunoglobulin domain containing 2

VSIG1 Gene

V-set and immunoglobulin domain containing 1

This gene encodes a member of the junctional adhesion molecule (JAM) family. The encoded protein contains multiple glycosylation sites at the N-terminal region, and multiple phosphorylation sites and glutamic acid/proline (EP) repeats at the C-terminal region. The gene is expressed in normal stomach and testis, as well as in gastric, esophageal and ovarian cancers. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]

KIR2DP1 Gene

killer cell immunoglobulin-like receptor, two domains, pseudogene 1

IGLL2P Gene

immunoglobulin lambda-like polypeptide 2, pseudogene

This locus represents a pseudogene of immunoglobulin lambda-like polypeptide 1. However, it appears to be co-transcribed with an adjacent glucuronidase, beta pseudogene. The transcript including sequence for both pseudogenes is represented by NR_024448, GeneID 91316. [provided by RefSeq, Jul 2011]

IGHV4-28 Gene

immunoglobulin heavy variable 4-28

IGHD2-15 Gene

immunoglobulin heavy diversity 2-15

IGHV1-17 Gene

immunoglobulin heavy variable 1-17 (pseudogene)

IGHV1-18 Gene

immunoglobulin heavy variable 1-18

IGLVV-58 Gene

immunoglobulin lambda variable (V)-58 (pseudogene)

IGKV1OR1-1 Gene

immunoglobulin kappa variable 1/OR1-1 (pseudogene)

IGKV4-1 Gene

immunoglobulin kappa variable 4-1

IGSF23 Gene

immunoglobulin superfamily, member 23

This gene encodes a protein that has one immunoglobulin (Ig) domain and is a member of the immunoglobulin superfamily. Proteins in this superfamily are usually found on or in cell membranes and act as receptors in immune response pathways. [provided by RefSeq, Nov 2011]

IGSF22 Gene

immunoglobulin superfamily, member 22

IGHV1-69D Gene

immunoglobulin heavy variable 1-69D

IGLV4-3 Gene

immunoglobulin lambda variable 4-3

IGHV2-10 Gene

immunoglobulin heavy variable 2-10 (pseudogene)

TMIGD1 Gene

transmembrane and immunoglobulin domain containing 1

SEMA4A Gene

sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A

This gene encodes a member of the semaphorin family of soluble and transmembrane proteins. Semaphorins are involved in numerous functions, including axon guidance, morphogenesis, carcinogenesis, and immunomodulation. The encoded protein is a single-pass type I membrane protein containing an immunoglobulin-like C2-type domain, a PSI domain and a sema domain. It inhibits axonal extension by providing local signals to specify territories inaccessible for growing axons. It is an activator of T-cell-mediated immunity and suppresses vascular endothelial growth factor (VEGF)-mediated endothelial cell migration and proliferation in vitro and angiogenesis in vivo. Mutations in this gene are associated with retinal degenerative diseases including retinitis pigmentosa type 35 (RP35) and cone-rod dystrophy type 10 (CORD10). Multiple alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010]

SEMA4B Gene

sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B

SEMA4C Gene

sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C

SEMA4D Gene

sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D

SEMA4F Gene

sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F

This gene encodes a transmembrane class IV semaphorin family protein, which plays a role in neural development. This gene may be involved in neurogenesis in prostate cancer, the development of neurofibromas, and breast cancer tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]

SEMA4G Gene

sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G

Semaphorins are a large family of conserved secreted and membrane associated proteins which possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Based on sequence and structural similarities, semaphorins are put into eight classes: invertebrates contain classes 1 and 2, viruses have class V, and vertebrates contain classes 3-7. Semaphorins serve as axon guidance ligands via multimeric receptor complexes, some (if not all) containing plexin proteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]

IGHV3-60 Gene

immunoglobulin heavy variable 3-60 (pseudogene)

IGHV3-62 Gene

immunoglobulin heavy variable 3-62 (pseudogene)

IGHV3-63 Gene

immunoglobulin heavy variable 3-63 (pseudogene)

IGHV3-64 Gene

immunoglobulin heavy variable 3-64

IGHV3-65 Gene

immunoglobulin heavy variable 3-65 (pseudogene)

IGHV3-66 Gene

immunoglobulin heavy variable 3-66

KIR2DL3 Gene

killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3

Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008]

KIR2DL2 Gene

killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2

Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008]

KIR2DL1 Gene

killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1

Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008]

KIR2DL4 Gene

killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4

Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. This gene is one of the "framework" loci that is present on all haplotypes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]

IGKV1OR2-118 Gene

immunoglobulin kappa variable 1/OR2-118 (pseudogene)

IGL Gene

immunoglobulin lambda locus

Immunoglobulins recognize foreign antigens and initiate immune responses such as phagocytosis and the complement system. Each immunoglobulin molecule consists of two identical heavy chains and two identical light chains. There are two classes of light chains, kappa and lambda. This region represents the germline organization of the lambda light chain locus. The locus includes V (variable), J (joining), and C (constant) segments. During B cell development, a recombination event at the DNA level joins a single V segment with a J segment; the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase, and by somatic hypermutation, which occurs during B cell maturation in the spleen and lymph nodes. Several V segments and three C segments are known to be incapable of encoding a protein and are considered pseudogenes. The locus also includes several non-immunoglobulin genes, many of which are pseudogenes or are predicted by automated computational analysis or homology to other species. [provided by RefSeq, Jul 2008]

IGK Gene

immunoglobulin kappa locus

IGH Gene

immunoglobulin heavy locus

Immunoglobulins recognize foreign antigens and initiate immune responses such as phagocytosis and the complement system. Each immunoglobulin molecule consists of two identical heavy chains and two identical light chains. This region represents the germline organization of the heavy chain locus. The locus includes V (variable), D (diversity), J (joining), and C (constant) segments. During B cell development, a recombination event at the DNA level joins a single D segment with a J segment; this partially rearranged D-J gene is then joined to a V segment. The rearranged V-D-J is then transcribed with the IGHM constant region; this transcript encodes a mu heavy chain. Later in development B cells generate V-D-J-Cmu-Cdelta pre-messenger RNA, which is alternatively spliced to encode either a mu or a delta heavy chain. Mature B cells in the lymph nodes undergo switch recombination, so that the V-D-J gene is brought in proximity to one of the IGHG, IGHA, or IGHE genes and each cell expresses either the gamma, alpha, or epsilon heavy chain. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase, and by somatic hypermutation, which occurs during B cell maturation in the spleen and lymph nodes. Due to polymorphism, the numbers of functional V, J, and D genes differ among individuals and some V, D, J, and C segments may be pseudogenes. [provided by RefSeq, Oct 2013]

PVRIG2P Gene

poliovirus receptor related immunoglobulin domain containing 2, pseudogene

IGHVII-51-2 Gene

immunoglobulin heavy variable (II)-51-2 (pseudogene)

IGKV3-20 Gene

immunoglobulin kappa variable 3-20

IGKV3-25 Gene

immunoglobulin kappa variable 3-25 (pseudogene)

IGKV1D-42 Gene

immunoglobulin kappa variable 1D-42 (non-functional)

IGKV1D-43 Gene

immunoglobulin kappa variable 1D-43

ITGA2B Gene

integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)

ITGA2B encodes integrin alpha chain 2b. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. Alpha chain 2b undergoes post-translational cleavage to yield disulfide-linked light and heavy chains that join with beta 3 to form a fibronectin receptor expressed in platelets that plays a crucial role in coagulation. Mutations that interfere with this role result in thrombasthenia. In addition to adhesion, integrins are known to participate in cell-surface mediated signalling. [provided by RefSeq, Jul 2008]

LOC100421559 Gene

adaptor-related protein complex 5, mu 1 subunit pseudogene

TRAPPC6A Gene

trafficking protein particle complex 6A

This gene encodes a component of the trafficking protein particle complex, which tethers transport vesicles to the cis-Golgi membrane. Loss of expression of the related gene in mouse affects coat and eye pigmentation, suggesting that the encoded protein may be involved in melanosome biogenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012]

TRAPPC6B Gene

trafficking protein particle complex 6B

TRAPPC6B is a component of TRAPP complexes, which are tethering complexes involved in vesicle transport (Kummel et al., 2005 [PubMed 16025134]).[supplied by OMIM, Mar 2008]

HLA-DQB1 Gene

major histocompatibility complex, class II, DQ beta 1

HLA-DQB1 belongs to the HLA class II beta chain paralogs. This class II molecule is a heterodimer consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and it contains six exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DQ molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to four different molecules. Typing for these polymorphisms is routinely done for bone marrow transplantation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]

HLA-DQB3 Gene

major histocompatibility complex, class II, DQ beta 3

HLA-DQB2 Gene

major histocompatibility complex, class II, DQ beta 2

HLA-DQB2 belongs to the family of HLA class II beta chain paralogs. Class II molecules are heterodimers consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. They play a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). Polymorphisms in the alpha and beta chains specify the peptide binding specificity, and typing for these polymorphisms is routinely done for bone marrow transplantation. However this gene, HLA-DQB2, is not routinely typed, as it is not thought to have an effect on transplantation. There is conflicting evidence in the literature and public sequence databases for the protein-coding capacity of HLA-DQB2. Because there is evidence of transcription and an intact ORF, HLA-DQB2 is represented in Entrez Gene and in RefSeq as a protein-coding locus. [provided by RefSeq, Oct 2010]

LY6G6C Gene

lymphocyte antigen 6 complex, locus G6C

LY6G6C belongs to a cluster of leukocyte antigen-6 (LY6) genes located in the major histocompatibility complex (MHC) class III region on chromosome 6. Members of the LY6 superfamily typically contain 70 to 80 amino acids, including 8 to 10 cysteines. Most LY6 proteins are attached to the cell surface by a glycosylphosphatidylinositol (GPI) anchor that is directly involved in signal transduction (Mallya et al., 2002 [PubMed 12079290]).[supplied by OMIM, Mar 2008]

LY6G6E Gene

lymphocyte antigen 6 complex, locus G6E (pseudogene)

LY6G6E belongs to a cluster of leukocyte antigen-6 (LY6) genes located in the major histocompatibility complex (MHC) class III region on chromosome 6. Members of the LY6 superfamily typically contain 70 to 80 amino acids, including 8 to 10 cysteines. Most LY6 proteins are attached to the cell surface by a glycosylphosphatidylinositol (GPI) anchor that is directly involved in signal transduction (Mallya et al., 2002 [PubMed 12079290]).[supplied by OMIM, Mar 2008]

ATP5C1 Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1

This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the gamma subunit of the catalytic core. Alternatively spliced transcript variants encoding different isoforms have been identified. This gene also has a pseudogene on chromosome 14. [provided by RefSeq, Jul 2008]

SYCE1 Gene

synaptonemal complex central element protein 1

DRC7 Gene

dynein regulatory complex subunit 7

DRC1 Gene

dynein regulatory complex subunit 1

TCP1P1 Gene

t-complex 1 pseudogene 1

TCP1P2 Gene

t-complex 1 pseudogene 2

TCP1P3 Gene

t-complex 1 pseudogene 3

OSTCP7 Gene

oligosaccharyltransferase complex subunit pseudogene 7

OSTCP4 Gene

oligosaccharyltransferase complex subunit pseudogene 4

OSTCP2 Gene

oligosaccharyltransferase complex subunit pseudogene 2

SKA1 Gene

spindle and kinetochore associated complex subunit 1

SKA3 Gene

spindle and kinetochore associated complex subunit 3

This gene encodes a component of the spindle and kinetochore-associated protein complex that regulates microtubule attachment to the kinetochores during mitosis. The encoded protein localizes to the outer kinetechore and may be required for normal chromosome segregation and cell division. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

SKA2 Gene

spindle and kinetochore associated complex subunit 2

HLA-DMB Gene

major histocompatibility complex, class II, DM beta

HLA-DMB belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DMA) and a beta (DMB) chain, both anchored in the membrane. It is located in intracellular vesicles. DM plays a central role in the peptide loading of MHC class II molecules by helping to release the CLIP (class II-associated invariant chain peptide) molecule from the peptide binding site. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. [provided by RefSeq, Jul 2008]

NCAPD2P1 Gene

non-SMC condensin I complex, subunit D2 pseudogene 1

ELP6 Gene

elongator acetyltransferase complex subunit 6

ELP5 Gene

elongator acetyltransferase complex subunit 5

ELP4 Gene

elongator acetyltransferase complex subunit 4

This gene encodes a component of the six subunit elongator complex, a histone acetyltransferase complex that associates directly with RNA polymerase II during transcriptional elongation. The human gene can partially complement sensitivity phenotypes of yeast ELP4 deletion mutants. This gene has also been associated with Rolandic epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

ELP3 Gene

elongator acetyltransferase complex subunit 3

ELP3 is the catalytic subunit of the histone acetyltransferase elongator complex, which contributes to transcript elongation and also regulates the maturation of projection neurons (Creppe et al., 2009 [PubMed 19185337]).[supplied by OMIM, Apr 2009]

ELP2 Gene

elongator acetyltransferase complex subunit 2

HLA-K Gene

major histocompatibility complex, class I, K (pseudogene)

HLA-J Gene

major histocompatibility complex, class I, J (pseudogene)

This major histocompatibility complex gene represents a transcribed pseudogene, possibly derived from HLA-A. [provided by RefSeq, May 2010]

HLA-L Gene

major histocompatibility complex, class I, L (pseudogene)

HLA-B Gene

major histocompatibility complex, class I, B

HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008]

HLA-A Gene

major histocompatibility complex, class I, A

HLA-A belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-A alleles have been described. [provided by RefSeq, Jul 2008]

HLA-G Gene

major histocompatibility complex, class I, G

HLA-G belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. HLA-G is expressed on fetal derived placental cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domain, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exon 6 encodes the cytoplasmic tail. [provided by RefSeq, Jul 2008]

HLA-F Gene

major histocompatibility complex, class I, F

This gene belongs to the HLA class I heavy chain paralogues. It encodes a non-classical heavy chain that forms a heterodimer with a beta-2 microglobulin light chain, with the heavy chain anchored in the membrane. Unlike most other HLA heavy chains, this molecule is localized in the endoplasmic reticulum and Golgi apparatus, with a small amount present at the cell surface in some cell types. It contains a divergent peptide-binding groove, and is thought to bind a restricted subset of peptides for immune presentation. This gene exhibits few polymorphisms. Multiple transcript variants encoding different isoforms have been found for this gene. These variants lack a coding exon found in transcripts from other HLA paralogues due to an altered splice acceptor site, resulting in a shorter cytoplasmic domain. [provided by RefSeq, Jul 2008]

MT-ND1 Gene

NADH dehydrogenase, subunit 1 (complex I)

MT-ND3 Gene

NADH dehydrogenase, subunit 3 (complex I)

MT-ND4 Gene

NADH dehydrogenase, subunit 4 (complex I)

MT-ND5 Gene

NADH dehydrogenase, subunit 5 (complex I)

MT-ND6 Gene

NADH dehydrogenase, subunit 6 (complex I)

SCHLAP1 Gene

SWI/SNF complex antagonist associated with prostate cancer 1 (non-protein coding)

LY6G6D Gene

lymphocyte antigen 6 complex, locus G6D

LY6G6D belongs to a cluster of leukocyte antigen-6 (LY6) genes located in the major histocompatibility complex (MHC) class III region on chromosome 6. Members of the LY6 superfamily typically contain 70 to 80 amino acids, including 8 to 10 cysteines. Most LY6 proteins are attached to the cell surface by a glycosylphosphatidylinositol (GPI) anchor that is directly involved in signal transduction (Mallya et al., 2002 [PubMed 12079290]).[supplied by OMIM, Apr 2009]

ANAPC1 Gene

anaphase promoting complex subunit 1

This gene encodes a subunit of the anaphase-promoting complex. This complex is an E3 ubiquitin ligase that regulates progression through the metaphase to anaphase portion of the cell cycle by ubiquitinating proteins which targets them for degradation. [provided by RefSeq, Dec 2011]

ANAPC2 Gene

anaphase promoting complex subunit 2

A large protein complex, termed the anaphase-promoting complex (APC), or the cyclosome, promotes metaphase-anaphase transition by ubiquitinating its specific substrates such as mitotic cyclins and anaphase inhibitor, which are subsequently degraded by the 26S proteasome. Biochemical studies have shown that the vertebrate APC contains eight subunits. The composition of the APC is highly conserved in organisms from yeast to humans. The product of this gene is a component of the complex and shares sequence similarity with a recently identified family of proteins called cullins, which may also be involved in ubiquitin-mediated degradation. [provided by RefSeq, Jul 2008]

ANAPC5 Gene

anaphase promoting complex subunit 5

This gene encodes a tetratricopeptide repeat-containing component of the anaphase promoting complex/cyclosome (APC/C), a large E3 ubiquitin ligase that controls cell cycle progression by targeting a number of cell cycle regulators such as B-type cyclins for 26S proteasome-mediated degradation through ubiquitination. The encoded protein is required for the proper ubiquitination function of APC/C and for the interaction of APC/C with transcription coactivators. It also interacts with polyA binding protein and represses internal ribosome entry site-mediated translation. Multiple transcript variants encoding different isoforms have been found for this gene. These differences cause translation initiation at a downstream AUG and result in a shorter protein (isoform b), compared to isoform a. [provided by RefSeq, Nov 2008]

ANAPC4 Gene

anaphase promoting complex subunit 4

A large protein complex, termed the anaphase-promoting complex (APC), or the cyclosome, promotes metaphase-anaphase transition by ubiquitinating its specific substrates such as mitotic cyclins and anaphase inhibitor, which are subsequently degraded by the 26S proteasome. Biochemical studies have shown that the vertebrate APC contains eight subunits. The composition of the APC is highly conserved in organisms from yeast to humans. The exact function of this gene product is not known. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]

ANAPC7 Gene

anaphase promoting complex subunit 7

This gene encodes a tetratricopeptide repeat containing component of the anaphase promoting complex/cyclosome (APC/C), a large E3 ubiquitin ligase that controls cell cycle progression by targeting a number of cell cycle regulators such as B-type cyclins for 26S proteasome-mediated degradation through ubiquitination. The encoded protein is required for proper protein ubiquitination function of APC/C and for the interaction of APC/C with certain transcription coactivators. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]

BLOC1S6 Gene

biogenesis of lysosomal organelles complex-1, subunit 6, pallidin

The protein encoded by this gene may play a role in intracellular vesicle trafficking. It interacts with Syntaxin 13 which mediates intracellular membrane fusion. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]

BLOC1S1 Gene

biogenesis of lysosomal organelles complex-1, subunit 1

BLOC1S1 is a component of the ubiquitously expressed BLOC1 multisubunit protein complex. BLOC1 is required for normal biogenesis of specialized organelles of the endosomal-lysosomal system, such as melanosomes and platelet dense granules (Starcevic and Dell'Angelica, 2004 [PubMed 15102850]).[supplied by OMIM, Mar 2008]

ANAPC1P1 Gene

anaphase promoting complex subunit 1 pseudogene 1

AP1S1 Gene

adaptor-related protein complex 1, sigma 1 subunit

The protein encoded by this gene is part of the clathrin coat assembly complex which links clathrin to receptors in coated vesicles. These vesicles are involved in endocytosis and Golgi processing. This protein, as well as beta-prime-adaptin, gamma-adaptin, and the medium (mu) chain AP47, form the AP-1 assembly protein complex located at the Golgi vesicle. [provided by RefSeq, Jul 2008]

ATP5L2 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G2

NACA Gene

nascent polypeptide-associated complex alpha subunit

The protein encoded by this gene associates with basic transcription factor 3 (BTF3) to form the nascent polypeptide-associated complex (NAC). NAC binds to nascent proteins as they emerge from the ribosome, blocking interaction with the signal recognition particle (SRP) and preventing mistranslocation to the endoplasmic reticulum. However, nascent proteins with an exposed signal peptide will not be bound by the encoded protein, enabling them to bind the SRP and enter the secretory pathway. This protein has been determined to be an IgE autoantigen in atopic dermatitis patients. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

HCG18 Gene

HLA complex group 18 (non-protein coding)

INTS12 Gene

integrator complex subunit 12

INTS12 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]

INTS10 Gene

integrator complex subunit 10

INTS10 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]

HCG4P11 Gene

HLA complex group 4 pseudogene 11

LOC100127892 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 pseudogene

AP5B1 Gene

adaptor-related protein complex 5, beta 1 subunit

HLA-DOA Gene

major histocompatibility complex, class II, DO alpha

HLA-DOA belongs to the HLA class II alpha chain paralogues. HLA-DOA forms a heterodimer with HLA-DOB. The heterodimer, HLA-DO, is found in lysosomes in B cells and regulates HLA-DM-mediated peptide loading on MHC class II molecules. In comparison with classical HLA class II molecules, this gene exhibits very little sequence variation, especially at the protein level. [provided by RefSeq, Jul 2008]

HLA-DOB Gene

major histocompatibility complex, class II, DO beta

HLA-DOB belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DOA) and a beta chain (DOB), both anchored in the membrane. It is located in intracellular vesicles. DO suppresses peptide loading of MHC class II molecules by inhibiting HLA-DM. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. [provided by RefSeq, Jul 2008]

HLA-DQA1 Gene

major histocompatibility complex, class II, DQ alpha 1

HLA-DQA1 belongs to the HLA class II alpha chain paralogues. The class II molecule is a heterodimer consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B Lymphocytes, dendritic cells, macrophages). The alpha chain is approximately 33-35 kDa. It is encoded by 5 exons; exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, and exon 4 encodes the transmembrane domain and the cytoplasmic tail. Within the DQ molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to four different molecules. Typing for these polymorphisms is routinely done for bone marrow transplantation. [provided by RefSeq, Jul 2008]

HLA-DQA2 Gene

major histocompatibility complex, class II, DQ alpha 2

This gene belongs to the HLA class II alpha chain family. The encoded protein forms a heterodimer with a class II beta chain. It is located in intracellular vesicles and plays a central role in the peptide loading of MHC class II molecules by helping to release the CLIP molecule from the peptide binding site. Class II molecules are expressed in antigen presenting cells (B lymphocytes, dendritic cells, macrophages) and are used to present antigenic peptides on the cell surface to be recognized by CD4 T-cells. [provided by RefSeq, Jun 2010]

PDHX Gene

pyruvate dehydrogenase complex, component X

The pyruvate dehydrogenase (PDH) complex is located in the mitochondrial matrix and catalyzes the conversion of pyruvate to acetyl coenzyme A. The PDH complex thereby links glycolysis to Krebs cycle. The PDH complex contains three catalytic subunits, E1, E2, and E3, two regulatory subunits, E1 kinase and E1 phosphatase, and a non-catalytic subunit, E3 binding protein (E3BP). This gene encodes the E3 binding protein subunit; also known as component X of the pyruvate dehydrogenase complex. This protein tethers E3 dimers to the E2 core of the PDH complex. Defects in this gene are a cause of pyruvate dehydrogenase deficiency which results in neurological dysfunction and lactic acidosis in infancy and early childhood. This protein is also a minor antigen for antimitochondrial antibodies. These autoantibodies are present in nearly 95% of patients with the autoimmune liver disease primary biliary cirrhosis (PBC). In PBC, activated T lymphocytes attack and destroy epithelial cells in the bile duct where this protein is abnormally distributed and overexpressed. PBC eventually leads to cirrhosis and liver failure. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2009]

AP5Z1 Gene

adaptor-related protein complex 5, zeta 1 subunit

This gene was identified by genome-wide screen for genes involved in homologous recombination DNA double-strand break repair (HR-DSBR). The encoded protein was found in a complex with other proteins that have a role in HR-DSBR. Knockdown of this gene reduced homologous recombination, and mutations in this gene were found in patients with spastic paraplegia. It was concluded that this gene likely encodes a helicase (PMID:20613862). [provided by RefSeq, Jan 2011]

TRAPPC9 Gene

trafficking protein particle complex 9

This gene encodes a protein that likely plays a role in NF-kappa-B signaling. Mutations in this gene have been associated with autosomal-recessive mental retardation. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010]

TRAPPC8 Gene

trafficking protein particle complex 8

TRAPPC1 Gene

trafficking protein particle complex 1

This gene product plays a role in vesicular transport of proteins to the Golgi apparatus from the endoplasmic reticulum. The encoded protein is a component of the multisubunit transport protein particle (TRAPP) complex. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]

TRAPPC3 Gene

trafficking protein particle complex 3

This gene encodes a component of the trafficking protein particle complex, which tethers transport vesicles to the cis-Golgi membrane. The encoded protein participates in the regulation of transport from the endoplasmic reticulum to the Golgi apparatus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

TRAPPC2 Gene

trafficking protein particle complex 2

The protein encoded by this gene is thought to be part of a large multi-subunit complex involved in the targeting and fusion of endoplasmic reticulum-to-Golgi transport vesicles with their acceptor compartment. In addition, the encoded protein can bind c-myc promoter-binding protein 1 and block its transcriptional repression capability. Mutations in this gene are a cause of spondyloepiphyseal dysplasia tarda (SEDT). A processed pseudogene of this gene is located on chromosome 19, and other pseudogenes are found on chromosomes 8 and Y. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2010]

TRAPPC5 Gene

trafficking protein particle complex 5

TRAPPC4 Gene

trafficking protein particle complex 4

LOC100421096 Gene

non-SMC condensin I complex, subunit G pseudogene

NCAPH2 Gene

non-SMC condensin II complex, subunit H2

This gene encodes one of the non-SMC subunits of the condensin II complex. This complex plays an essential role in mitotic chromosome assembly. Alternate splicing of this gene results in multiple transcript variants.[provided by RefSeq, May 2010]

RICTOR Gene

RPTOR independent companion of MTOR, complex 2

RICTOR and MTOR (FRAP1; MIM 601231) are components of a protein complex that integrates nutrient- and growth factor-derived signals to regulate cell growth (Sarbassov et al., 2004 [PubMed 15268862]).[supplied by OMIM, Mar 2008]

LOC646709 Gene

NADH dehydrogenase (ubiquinone) complex I, assembly factor 1 pseudogene

BRK1P2 Gene

BRICK1, SCAR/WAVE actin-nucleating complex subunit pseudogene 2

MED13P1 Gene

mediator complex subunit 13 pseudogene 1

INTS4P1 Gene

integrator complex subunit 4 pseudogene 1

INTS4P2 Gene

integrator complex subunit 4 pseudogene 2

TRAPPC2P5 Gene

trafficking protein particle complex 2 pseudogene 5

TRAPPC2P4 Gene

trafficking protein particle complex 2 pseudogene 4

TRAPPC2P7 Gene

trafficking protein particle complex 2 pseudogene 7

TRAPPC2P6 Gene

trafficking protein particle complex 2 pseudogene 6

TRAPPC2P3 Gene

trafficking protein particle complex 2 pseudogene 3

TRAPPC2P2 Gene

trafficking protein particle complex 2 pseudogene 2

TRAPPC2P9 Gene

trafficking protein particle complex 2 pseudogene 9

TRAPPC2P8 Gene

trafficking protein particle complex 2 pseudogene 8

SKA2P1 Gene

spindle and kinetochore associated complex subunit 2 pseudogene 1

AP2B1 Gene

adaptor-related protein complex 2, beta 1 subunit

The protein encoded by this gene is one of two large chain components of the assembly protein complex 2, which serves to link clathrin to receptors in coated vesicles. The encoded protein is found on the cytoplasmic face of coated vesicles in the plasma membrane. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

MED15P7 Gene

mediator complex subunit 15 pseudogene 7

MED15P6 Gene

mediator complex subunit 15 pseudogene 6

MED15P5 Gene

mediator complex subunit 15 pseudogene 5

MED15P4 Gene

mediator complex subunit 15 pseudogene 4

MED15P1 Gene

mediator complex subunit 15 pseudogene 1

MED15P9 Gene

mediator complex subunit 15 pseudogene 9

INO80 Gene

INO80 complex subunit

This gene encodes a subunit of the chromatin remodeling complex, which is classified into subfamilies depending on sequence features apart from the conserved ATPase domain. This protein is the catalytic ATPase subunit of the INO80 chromatin remodeling complex, which is characterized by a DNA-binding domain. This protein is proposed to bind DNA and be recruited by the YY1 transcription factor to activate certain genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

KANSL1L Gene

KAT8 regulatory NSL complex subunit 1-like

CTC1 Gene

CTS telomere maintenance complex component 1

This gene encodes a component of the CST complex. This complex plays an essential role in protecting telomeres from degradation. This protein also forms a heterodimer with the CST complex subunit STN1 to form the enzyme alpha accessory factor. This enzyme regulates DNA replication. Mutations in this gene are the cause of cerebroretinal microangiopathy with calcifications and cysts. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Mar 2012]

TCP10L Gene

t-complex 10-like

LOC100289091 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G2 pseudogene

HCG4 Gene

HLA complex group 4 (non-protein coding)

HCG9 Gene

HLA complex group 9 (non-protein coding)

This gene lies within the MHC class I region on chromosome 6p21.3. This gene is believed to be non-coding, but its function has not been determined. [provided by RefSeq, Jul 2009]

ATP5BP1 Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide pseudogene 1

SNAPC3 Gene

small nuclear RNA activating complex, polypeptide 3, 50kDa

SNAPC2 Gene

small nuclear RNA activating complex, polypeptide 2, 45kDa

This gene encodes a subunit of the snRNA-activating protein complex which is associated with the TATA box-binding protein. The encoded protein is necessary for RNA polymerase II and III dependent small-nuclear RNA gene transcription. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]

SNAPC1 Gene

small nuclear RNA activating complex, polypeptide 1, 43kDa

SNAPC5 Gene

small nuclear RNA activating complex, polypeptide 5, 19kDa

SNAPC4 Gene

small nuclear RNA activating complex, polypeptide 4, 190kDa

LOC100192388 Gene

anaphase promoting complex subunit 13 pseudogene

LOC100192389 Gene

anaphase promoting complex subunit 13 pseudogene

CHRAC1 Gene

chromatin accessibility complex 1

CHRAC1 is a histone-fold protein that interacts with other histone-fold proteins to bind DNA in a sequence-independent manner. These histone-fold protein dimers combine within larger enzymatic complexes for DNA transcription, replication, and packaging.[supplied by OMIM, Apr 2004]

CNOT4 Gene

CCR4-NOT transcription complex, subunit 4

The protein encoded by this gene is a subunit of the CCR4-NOT complex, a global transcriptional regulator. The encoded protein interacts with CNOT1 and has E3 ubiquitin ligase activity. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2010]

LOC100418484 Gene

KAT8 regulatory NSL complex subunit 1 pseudogene

LOC390846 Gene

golgi SNAP receptor complex member 2 pseudogene

TCP11X1 Gene

t-complex 11 family, X-linked 1

TCP11X2 Gene

t-complex 11 family, X-linked 2

ARPC5L Gene

actin related protein 2/3 complex, subunit 5-like

HCG25 Gene

HLA complex group 25 (non-protein coding)

HCG27 Gene

HLA complex group 27 (non-protein coding)

MCM8 Gene

minichromosome maintenance complex component 8

The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by the mini-chromosome maintenance proteins is a key component of the pre-replication complex and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein contains the central domain that is conserved among the mini-chromosome maintenance proteins. The encoded protein may interact with other mini-chromosome maintenance proteins and play a role in DNA replication. This gene may be associated with length of reproductive lifespan and menopause. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2013]

LOC646112 Gene

origin recognition complex, subunit 3-like (yeast) pseudogene

TPGS2 Gene

tubulin polyglutamylase complex subunit 2

This gene encodes a protein that is a component of the neuronal polyglutamylase complex, which plays a role in post-translational addition of glutamate residues to C-terminal tubulin tails. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2012]

TPGS1 Gene

tubulin polyglutamylase complex subunit 1

LOC653653 Gene

adaptor-related protein complex 1, sigma 2 subunit pseudogene

CNOT7P2 Gene

CCR4-NOT transcription complex, subunit 7 pseudogene 2

CNOT7P1 Gene

CCR4-NOT transcription complex, subunit 7 pseudogene 1

ATP5J2LP Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2-like pseudogene

DGCR8 Gene

DGCR8 microprocessor complex subunit

This gene encodes a subunit of the microprocessor complex which mediates the biogenesis of microRNAs from the primary microRNA transcript. The encoded protein is a double-stranded RNA binding protein that functions as the non-catalytic subunit of the microprocessor complex. This protein is required for binding the double-stranded RNA substrate and facilitates cleavage of the RNA by the ribonuclease III protein, Drosha. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]

IKBKAP Gene

inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein

The protein encoded by this gene is a scaffold protein and a regulator for 3 different kinases involved in proinflammatory signaling. This encoded protein can bind NF-kappa-B-inducing kinase (NIK) and IKKs through separate domains and assemble them into an active kinase complex. Mutations in this gene have been associated with familial dysautonomia. [provided by RefSeq, Jul 2008]

CACTIN Gene

cactin, spliceosome C complex subunit

GCOM2 Gene

GRINL1B complex locus 2, pseudogene

GCOM1 Gene

GRINL1A complex locus 1

This locus represents naturally occurring readthrough transcription between the neighboring MYZAP (myocardial zonula adherens protein) and POLR2M (polymerase (RNA) II (DNA directed) polypeptide M) genes on chromosome 15. Alternative splicing results in multiple readthrough transcript variants. Readthrough variants may encode proteins that share sequence identity with the upstream gene product or with both the upstream and downstream gene products. Some readthrough transcript variants are also expected to be candidates for nonsense-mediated decay (NMD). [provided by RefSeq, Oct 2013]

LOC100288416 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2 pseudogene

LOC643454 Gene

adaptor-related protein complex 3, sigma 1 subunit pseudogene

AP3M1 Gene

adaptor-related protein complex 3, mu 1 subunit

The protein encoded by this gene is the medium subunit of AP-3, which is an adaptor-related protein complex associated with the Golgi region as well as more peripheral intracellular structures. AP-3 facilitates the budding of vesicles from the Golgi membrane and may be directly involved in protein sorting to the endosomal/lysosomal system. AP-3 is a heterotetrameric protein complex composed of two large subunits (delta and beta3), a medium subunit (mu3), and a small subunit (sigma 3). Mutations in one of the large subunits of AP-3 have been associated with the Hermansky-Pudlak syndrome, a genetic disorder characterized by defective lysosome-related organelles. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]

AP3M2 Gene

adaptor-related protein complex 3, mu 2 subunit

This gene encodes a subunit of the heterotetrameric adaptor-related protein comlex 3 (AP-3), which belongs to the adaptor complexes medium subunits family. The AP-3 complex plays a role in protein trafficking to lysosomes and specialized organelles. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Aug 2008]

HCG21 Gene

HLA complex group 21 (non-protein coding)

HCG20 Gene

HLA complex group 20 (non-protein coding)

HCG23 Gene

HLA complex group 23 (non-protein coding)

HCG22 Gene

HLA complex group 22

LOC100289381 Gene

adaptor-related protein complex 3, sigma 1 subunit pseudogene

DSN1 Gene

DSN1, MIS12 kinetochore complex component

This gene encodes a kinetochore protein that functions as part of the minichromosome instability-12 centromere complex. The encoded protein is required for proper kinetochore assembly and progression through the cell cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2009]

BRCC3P1 Gene

BRCA1/BRCA2-containing complex, subunit 3 pseudogene 1

NPIPP1 Gene

nuclear pore complex interacting protein pseudogene 1

LOC102724200 Gene

trafficking protein particle complex subunit 10-like

ICE2P2 Gene

interactor of little elongation complex ELL subunit 2 pseudogene 2

ICE2P1 Gene

interactor of little elongation complex ELL subunit 2 pseudogene 1

NPIP Gene

nuclear pore complex interacting protein family, member A1 pseudogene

TRAPPC11 Gene

trafficking protein particle complex 11

The protein encoded by this gene is a subunit of the TRAPP (transport protein particle) tethering complex, which functions in intracellular vesicle trafficking. This subunit is involved in early stage endoplasmic reticulum-to-Golgi vesicle transport. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2013]

TRAPPC10 Gene

trafficking protein particle complex 10

The protein encoded by this gene is a transmembrane protein found in the cis-Golgi complex. The encoded protein is part of the multisubunit transport protein particle (TRAPP) complex and may be involved in vesicular transport from the endoplasmic reticulum to the Golgi. Mutations in this gene could be responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy, or for autoimmune polyglandular disease type 1. [provided by RefSeq, Jul 2008]

TRAPPC13 Gene

trafficking protein particle complex 13

TRAPPC12 Gene

trafficking protein particle complex 12

LOC260421 Gene

actin related protein 2/3 complex subunit 1A pseudogene

LOC260422 Gene

actin related protein 2/3 complex subunit 1A pseudogene

AP4B1 Gene

adaptor-related protein complex 4, beta 1 subunit

This gene encodes a subunit of a heterotetrameric adapter-like complex 4 that is involved in targeting proteins from the trans-Golgi network to the endosomal-lysosomal system. Mutations in this gene are associated with cerebral palsy spastic quadriplegic type 5 (CPSQ5) disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

STT3B Gene

STT3B, subunit of the oligosaccharyltransferase complex (catalytic)

The protein encoded by this gene is a catalytic subunit of a protein complex that transfers oligosaccharides onto asparagine residues. Defects in this gene are a cause of congenital disorder of glycosylation Ix (CDG1X). [provided by RefSeq, Jun 2014]

STT3A Gene

STT3A, subunit of the oligosaccharyltransferase complex (catalytic)

NSL1 Gene

NSL1, MIS12 kinetochore complex component

This gene encodes a protein with two coiled-coil domains that localizes to kinetochores, which are chromosome-associated structures that attach to microtubules and mediate chromosome movements during cell division. The encoded protein is part of a conserved protein complex that includes two chromodomain-containing proteins and a component of the outer plate of the kinetochore. This protein complex is proposed to bridge centromeric heterochromatin with the outer kinetochore structure. Multiple transcript variants encoding different isoforms have been found for this gene. There is a pseudogene of the 3' UTR region of this gene on chromosome X. [provided by RefSeq, Jul 2014]

SWAP70 Gene

SWAP switching B-cell complex 70kDa subunit

LEO1 Gene

Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)

LEO1, parafibromin (CDC73; MIM 607393), CTR9 (MIM 609366), and PAF1 (MIM 610506) form the PAF protein complex that associates with the RNA polymerase II subunit POLR2A (MIM 180660) and with a histone methyltransferase complex (Rozenblatt-Rosen et al., 2005 [PubMed 15632063]).[supplied by OMIM, Mar 2008]

MR1 Gene

major histocompatibility complex, class I-related

MECOM Gene

MDS1 and EVI1 complex locus

The protein encoded by this gene is a transcriptional regulator and oncoprotein that may be involved in hematopoiesis, apoptosis, development, and cell differentiation and proliferation. The encoded protein can interact with CTBP1, SMAD3, CREBBP, KAT2B, MAPK8, and MAPK9. This gene can undergo translocation with the AML1 gene, resulting in overexpression of this gene and the onset of leukemia. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]

AP2A1 Gene

adaptor-related protein complex 2, alpha 1 subunit

This gene encodes the alpha 1 adaptin subunit of the adaptor protein 2 (AP-2) complex found in clathrin coated vesicles. The AP-2 complex is a heterotetramer consisting of two large adaptins (alpha or beta), a medium adaptin (mu), and a small adaptin (sigma). The complex is part of the protein coat on the cytoplasmic face of coated vesicles which links clathrin to receptors in vesicles. Alternative splicing of this gene results in two transcript variants encoding two different isoforms. A third transcript variant has been described, but its full length nature has not been determined. [provided by RefSeq, Jul 2008]

AP2A2 Gene

adaptor-related protein complex 2, alpha 2 subunit

ATP5JP1 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F6 pseudogene 1

ATP5A1 Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle

This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, using an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the alpha subunit of the catalytic core. Alternatively spliced transcript variants encoding the different isoforms have been identified. Pseudogenes of this gene are located on chromosomes 9, 2, and 16. [provided by RefSeq, Mar 2012]

SNAPC5P1 Gene

small nuclear RNA activating complex, polypeptide 5, 19kDa pseudogene 1

NACA2 Gene

nascent polypeptide-associated complex alpha subunit 2

LOC100130035 Gene

biogenesis of lysosome-related organelles complex 1 subunit 6-like

LOC644310 Gene

ubiquinol-cytochrome c reductase, complex III subunit X pseudogene

HCG9P5 Gene

HLA complex group 9 pseudogene 5

HCG9P3 Gene

HLA complex group 9 pseudogene 3

HCG9P2 Gene

HLA complex group 9 pseudogene 2

LOC100131348 Gene

adaptor-related protein complex 2, beta 1 subunit pseudogene

NCAPG2 Gene

non-SMC condensin II complex, subunit G2

This gene encodes a protein that belongs to the Condensin2nSMC family of proteins. The encoded protein is a regulatory subunit of the condensin II complex which, along with the condensin I complex, plays a role in chromosome assembly and segregation during mitosis. A similar protein in mouse is required for early development of the embryo. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

LOC100422044 Gene

actin related protein 2/3 complex, subunit 1A, 41kDa pseudogene

NPIPB15 Gene

nuclear pore complex interacting protein family, member B15

ATP5J2P6 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2 pseudogene 6

ATP5J2P4 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2 pseudogene 4

ATP5J2P5 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2 pseudogene 5

ATP5J2P2 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2 pseudogene 2

ATP5J2P3 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2 pseudogene 3

LOC391247 Gene

GINS complex subunit 2 (Psf2 homolog) pseudogene

ATP5S Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit s (factor B)

This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. This gene encodes the subunit s, also known as factor B, of the proton channel. This subunit is necessary for the energy transduction activity of the ATP synthase complexes. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

ATP5J Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F6

Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the F6 subunit of the Fo complex, required for F1 and Fo interactions. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. A pseudogene exists on chromosome Yp11.[provided by RefSeq, Jun 2010]

ATP5I Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit E

Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the e subunit of the Fo complex. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010]

ATP5H Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d

Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the d subunit of the Fo complex. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. In addition, three pseudogenes are located on chromosomes 9, 12 and 15. [provided by RefSeq, Jun 2010]

ATP5O Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit

The protein encoded by this gene is a component of the F-type ATPase found in the mitochondrial matrix. F-type ATPases are composed of a catalytic core and a membrane proton channel. The encoded protein appears to be part of the connector linking these two components and may be involved in transmission of conformational changes or proton conductance. [provided by RefSeq, Jul 2008]

ATP5B Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide

This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the beta subunit of the catalytic core. [provided by RefSeq, Jul 2008]

ATP5E Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit

This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the epsilon subunit of the catalytic core. Two pseudogenes of this gene are located on chromosomes 4 and 13. Read-through transcripts that include exons from this gene are expressed from the upstream gene SLMO2.[provided by RefSeq, Mar 2011]

ATP5D Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, delta subunit

This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the delta subunit of the catalytic core. Alternatively spliced transcript variants encoding the same isoform have been identified. [provided by RefSeq, Jul 2008]

LOC105379604 Gene

set1/Ash2 histone methyltransferase complex subunit ASH2 pseudogene

LOC100132849 Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit pseudogene

HAUS8P1 Gene

HAUS augmin-like complex, subunit 8 pseudogene 1

BABAM1 Gene

BRISC and BRCA1 A complex member 1

LOC727681 Gene

NSL1, MIND kinetochore complex component, homolog (S. cerevisiae) pseudogene

LOC100421148 Gene

non-SMC condensin I complex, subunit G pseudogene

3.8-1.4 Gene

HLA complex group 26 (non-protein coding) pseudogene

3.8-1.5 Gene

HLA complex group 26 (non-protein coding) pseudogene

3.8-1.2 Gene

HLA complex group 26 (non-protein coding) pseudogene

ATP5C1P1 Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1 pseudogene 1

LOC727919 Gene

NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 pseudogene

LOC285074 Gene

anaphase promoting complex subunit 1 pseudogene

ARPC4 Gene

actin related protein 2/3 complex, subunit 4, 20kDa

This gene encodes one of seven subunits of the human Arp2/3 protein complex. This complex controls actin polymerization in cells and has been conserved throughout eukaryotic evolution. This gene encodes the p20 subunit, which is necessary for actin nucleation and high-affinity binding to F-actin. Alternative splicing results in multiple transcript variants. Naturally occurring read-through transcription exists between this gene and the downstream tubulin tyrosine ligase-like family, member 3 (TTLL3), which results in the production of a fusion protein. [provided by RefSeq, Nov 2010]

LOC100507083 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9) pseudogene

LOC440353 Gene

nuclear pore complex interacting protein family, member A1 pseudogene

NOC2L Gene

nucleolar complex associated 2 homolog (S. cerevisiae)

Histone modification by histone acetyltransferases (HAT) and histone deacetylases (HDAC) can control major aspects of transcriptional regulation. NOC2L represents a novel HDAC-independent inhibitor of histone acetyltransferase (INHAT) (Hublitz et al., 2005 [PubMed 16322561]).[supplied by OMIM, Mar 2008]

EZH2P1 Gene

enhancer of zeste 2 polycomb repressive complex 2 subunit pseudogene 1

ARPC3P4 Gene

actin related protein 2/3 complex, subunit 3 pseudogene 4

HLA-H Gene

major histocompatibility complex, class I, H (pseudogene)

This major histocompatibility complex gene represents a transcribed pseudogene, possibly derived from HLA-A. This gene displays extensive variation. [provided by RefSeq, May 2010]

HLA-N Gene

major histocompatibility complex, class I, N (pseudogene)

HLA-C Gene

major histocompatibility complex, class I, C

HLA-C belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domain, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Over one hundred HLA-C alleles have been described [provided by RefSeq, Jul 2008]

HLA-E Gene

major histocompatibility complex, class I, E

HLA-E belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. HLA-E binds a restricted subset of peptides derived from the leader peptides of other class I molecules. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. [provided by RefSeq, Jul 2008]

HLA-Z Gene

major histocompatibility complex, class I, Z (pseudogene)

HLA-Y Gene

major histocompatibility complex, class I, Y (pseudogene)

HLA-X Gene

major histocompatibility complex, class I, X (pseudogene)

HLA-S Gene

major histocompatibility complex, class I, S (pseudogene)

HLA-P Gene

major histocompatibility complex, class I, P (pseudogene)

HLA-W Gene

major histocompatibility complex, class I, W (pseudogene)

HLA-V Gene

major histocompatibility complex, class I, V (pseudogene)

HLA-U Gene

major histocompatibility complex, class I, U (pseudogene)

HLA-T Gene

major histocompatibility complex, class I, T (pseudogene)

XKRYP6 Gene

XK, Kell blood group complex subunit-related, Y-linked pseudogene 6

XKRYP4 Gene

XK, Kell blood group complex subunit-related, Y-linked pseudogene 4

XKRYP5 Gene

XK, Kell blood group complex subunit-related, Y-linked pseudogene 5

XKRYP2 Gene

XK, Kell blood group complex subunit-related, Y-linked pseudogene 2

XKRYP3 Gene

XK, Kell blood group complex subunit-related, Y-linked pseudogene 3

XKRYP1 Gene

XK, Kell blood group complex subunit-related, Y-linked pseudogene 1

LOC102723574 Gene

HAUS augmin-like complex subunit 6 pseudogene

LOC101060346 Gene

T-complex protein 11 X-linked protein 2-like

AP1S2 Gene

adaptor-related protein complex 1, sigma 2 subunit

Adaptor protein complex 1 is found at the cytoplasmic face of coated vesicles located at the Golgi complex, where it mediates both the recruitment of clathrin to the membrane and the recognition of sorting signals within the cytosolic tails of transmembrane receptors. This complex is a heterotetramer composed of two large, one medium, and one small adaptin subunit. The protein encoded by this gene serves as the small subunit of this complex and is a member of the adaptin protein family. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013]

AP1S3 Gene

adaptor-related protein complex 1, sigma 3 subunit

This gene encodes a member of the adaptor-related protein complex 1, sigma subunit genes. The encoded protein is a component of adaptor protein complex 1 (AP-1), one of the AP complexes involved in claathrin-mediated vesicular transport from the Golgi or endosomes. Disruption of the pathway for display of HIV-1 antigens, which prevents recognition of the virus by cytotoxic T cells, has been shown to involve the AP-1 complex (PMID: 15569716). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

ATP5J2 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2

Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The catalytic portion of mitochondrial ATP synthase consists of five different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and single representatives of the gamma, delta, and epsilon subunits. The proton channel likely has nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the f subunit of the Fo complex. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. This gene has multiple pseudogenes. Naturally occurring read-through transcription also exists between this gene and the downstream pentatricopeptide repeat domain 1 (PTCD1) gene. [provided by RefSeq, Nov 2010]

LOC100420889 Gene

anaphase promoting complex subunit 1 pseudogene

TRAPPC2L Gene

trafficking protein particle complex 2-like

TRAPPC2B Gene

trafficking protein particle complex 2B

This gene has been described as a transcribed retropseudogene (or retro-xaptonuon) based on its structure which lacks most of the introns of SEDL and the detection of transcripts from this locus. Most retropseudogenes are thought to not express protein products. A protein product could potentially be encoded by this retropseudogene that would be identical to the protein product of the SEDL gene. However, it remains unclear whether this gene encodes a protein product or is a transcribed retropseudogene. [provided by RefSeq, Jul 2008]

AP4E1 Gene

adaptor-related protein complex 4, epsilon 1 subunit

This gene encodes a member of the adaptor complexes large subunit protein family. These proteins are components of the heterotetrameric adaptor protein complexes, which play important roles in the secretory and endocytic pathways by mediating vesicle formation and sorting of integral membrane proteins. The encoded protein is a large subunit of adaptor protein complex-4, which is associated with both clathrin- and nonclathrin-coated vesicles. Disruption of this gene may be associated with cerebral palsy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

NUF2 Gene

NUF2, NDC80 kinetochore complex component

This gene encodes a protein that is highly similar to yeast Nuf2, a component of a conserved protein complex associated with the centromere. Yeast Nuf2 disappears from the centromere during meiotic prophase when centromeres lose their connection to the spindle pole body, and plays a regulatory role in chromosome segregation. The encoded protein is found to be associated with centromeres of mitotic HeLa cells, which suggests that this protein is a functional homolog of yeast Nuf2. Alternatively spliced transcript variants that encode the same protein have been described. [provided by RefSeq, Jul 2008]

MED30 Gene

mediator complex subunit 30

The multiprotein TRAP/Mediator complex facilitates gene expression through a wide variety of transcriptional activators. MED30 is a component of this complex that appears to be metazoan specific (Baek et al., 2002 [PubMed 11909976]).[supplied by OMIM, Nov 2010]

MED31 Gene

mediator complex subunit 31

EXOC6B Gene

exocyst complex component 6B

In yeast and rat, Sec15 is part of a multiprotein complex that is required for targeted exocytosis.[supplied by OMIM, Apr 2004]

MED23 Gene

mediator complex subunit 23

The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. This protein also acts as a metastasis suppressor. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2012]

UQCR10 Gene

ubiquinol-cytochrome c reductase, complex III subunit X

UCRC is a subunit of mitochondrial complex III (ubiquinol-cytochrome c reductase; EC 1.10.2.2), which forms the middle segment of the respiratory chain of the inner mitochondrial membrane (Schagger et al., 1995 [PubMed 8592474]).[supplied by OMIM, Mar 2008]

UQCR11 Gene

ubiquinol-cytochrome c reductase, complex III subunit XI

This gene encodes the smallest known component of the ubiquinol-cytochrome c reductase complex, which forms part of the mitochondrial respiratory chain. The encoded protein may function as a binding factor for the iron-sulfur protein in this complex. [provided by RefSeq, Oct 2009]

MED14P1 Gene

mediator complex subunit 14 pseudogene 1

NCAPH Gene

non-SMC condensin I complex, subunit H

This gene encodes a member of the barr gene family and a regulatory subunit of the condensin complex. This complex is required for the conversion of interphase chromatin into condensed chromosomes. The protein encoded by this gene is associated with mitotic chromosomes, except during the early phase of chromosome condensation. During interphase, the protein has a distinct punctate nucleolar localization. Alternatively spliced transcript variants encoding different proteins have been described. [provided by RefSeq, Jul 2013]

NCAPG Gene

non-SMC condensin I complex, subunit G

This gene encodes a subunit of the condensin complex, which is responsible for the condensation and stabilization of chromosomes during mitosis and meiosis. Phosphorylation of the encoded protein activates the condensin complex. There are pseudogenes for this gene on chromosomes 8 and 15. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

NDUFAF5 Gene

NADH dehydrogenase (ubiquinone) complex I, assembly factor 5

The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The complex is located in the inner mitochondrial membrane. This gene encodes a mitochondrial protein that is associated with the matrix face of the mitochondrial inner membrane and is required for complex I assembly. A mutation in this gene results in mitochondrial complex I deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

NDUFAF4 Gene

NADH dehydrogenase (ubiquinone) complex I, assembly factor 4

NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. This gene encodes a complex I assembly factor. Mutations in this gene are a cause of mitochondrial complex I deficiency. [provided by RefSeq, Oct 2009]

NDUFAF7 Gene

NADH dehydrogenase (ubiquinone) complex I, assembly factor 7

NDUFAF6 Gene

NADH dehydrogenase (ubiquinone) complex I, assembly factor 6

This gene encodes a protein that localizes to mitochondria and contains a predicted phytoene synthase domain. The encoded protein plays an important role in the assembly of complex I (NADH-ubiquinone oxidoreductase) of the mitochondrial respiratory chain through regulation of subunit ND1 biogenesis. Mutations in this gene are associated with complex I enzymatic deficiency. [provided by RefSeq, Nov 2011]

NDUFAF1 Gene

NADH dehydrogenase (ubiquinone) complex I, assembly factor 1

This gene encodes a complex I assembly factor protein. Complex I (NADH-ubiquinone oxidoreductase) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. The encoded protein is required for assembly of complex I, and mutations in this gene are a cause of mitochondrial complex I deficiency. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 19. [provided by RefSeq, Dec 2011]

NDUFAF3 Gene

NADH dehydrogenase (ubiquinone) complex I, assembly factor 3

This gene encodes a mitochondrial complex I assembly protein that interacts with complex I subunits. Mutations in this gene cause mitochondrial complex I deficiency, a fatal neonatal disorder of the oxidative phosphorylation system. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2009]

NDUFAF2 Gene

NADH dehydrogenase (ubiquinone) complex I, assembly factor 2

NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. This gene encodes a complex I assembly factor. Mutations in this gene cause progressive encephalopathy resulting from mitochondrial complex I deficiency. [provided by RefSeq, Jul 2008]

HLA-DMA Gene

major histocompatibility complex, class II, DM alpha

HLA-DMA belongs to the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DMA) and a beta chain (DMB), both anchored in the membrane. It is located in intracellular vesicles. DM plays a central role in the peptide loading of MHC class II molecules by helping to release the CLIP molecule from the peptide binding site. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The alpha chain is approximately 33-35 kDa and its gene contains 5 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and the cytoplasmic tail. [provided by RefSeq, Jul 2008]

LY6G5C Gene

lymphocyte antigen 6 complex, locus G5C

LY6G5C belongs to a cluster of leukocyte antigen-6 (LY6) genes located in the major histocompatibility complex (MHC) class III region on chromosome 6. Members of the LY6 superfamily typically contain 70 to 80 amino acids, including 8 to 10 cysteines. Most LY6 proteins are attached to the cell surface by a glycosylphosphatidylinositol (GPI) anchor that is directly involved in signal transduction (Mallya et al., 2002 [PubMed 12079290]).[supplied by OMIM, Mar 2008]

LY6G5B Gene

lymphocyte antigen 6 complex, locus G5B

LY6G5B belongs to a cluster of leukocyte antigen-6 (LY6) genes located in the major histocompatibility complex (MHC) class III region on chromosome 6. Members of the LY6 superfamily typically contain 70 to 80 amino acids, including 8 to 10 cysteines. Most LY6 proteins are attached to the cell surface by a glycosylphosphatidylinositol (GPI) anchor that is directly involved in signal transduction (Mallya et al., 2002 [PubMed 12079290]).[supplied by OMIM, Mar 2008]

UQCRQ Gene

ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa

This gene encodes a ubiquinone-binding protein of low molecular mass. This protein is a small core-associated protein and a subunit of ubiquinol-cytochrome c reductase complex III, which is part of the mitochondrial respiratory chain. [provided by RefSeq, Jul 2008]

LOC100288031 Gene

BRICK1, SCAR/WAVE actin-nucleating complex subunit pseudogene

AP4M1 Gene

adaptor-related protein complex 4, mu 1 subunit

This gene encodes a subunit of the heterotetrameric AP-4 complex. The encoded protein belongs to the adaptor complexes medium subunits family. This AP-4 complex is involved in the recognition and sorting of cargo proteins with tyrosine-based motifs from the trans-golgi network to the endosomal-lysosomal system. [provided by RefSeq, Jul 2008]

SDHA Gene

succinate dehydrogenase complex, subunit A, flavoprotein (Fp)

This gene encodes a major catalytic subunit of succinate-ubiquinone oxidoreductase, a complex of the mitochondrial respiratory chain. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. Mutations in this gene have been associated with a form of mitochondrial respiratory chain deficiency known as Leigh Syndrome. A pseudogene has been identified on chromosome 3q29. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]

SDHC Gene

succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa

This gene encodes one of four nuclear-encoded subunits that comprise succinate dehydrogenase, also known as mitochondrial complex II, a key enzyme complex of the tricarboxylic acid cycle and aerobic respiratory chains of mitochondria. The encoded protein is one of two integral membrane proteins that anchor other subunits of the complex, which form the catalytic core, to the inner mitochondrial membrane. There are several related pseudogenes for this gene on different chromosomes. Mutations in this gene have been associated with paragangliomas. Alternatively spliced transcript variants have been described. [provided by RefSeq, May 2013]

SDHB Gene

succinate dehydrogenase complex, subunit B, iron sulfur (Ip)

Complex II of the respiratory chain, which is specifically involved in the oxidation of succinate, carries electrons from FADH to CoQ. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. The iron-sulfur subunit is highly conserved and contains three cysteine-rich clusters which may comprise the iron-sulfur centers of the enzyme. Sporadic and familial mutations in this gene result in paragangliomas and pheochromocytoma, and support a link between mitochondrial dysfunction and tumorigenesis. [provided by RefSeq, Jul 2008]

SDHD Gene

succinate dehydrogenase complex, subunit D, integral membrane protein

This gene encodes a member of complex II of the respiratory chain, which is responsible for the oxidation of succinate. The encoded protein is one of two integral membrane proteins anchoring the complex to the matrix side of the mitochondrial inner membrane. Mutations in this gene are associated with the formation of tumors, including hereditary paraganglioma. Transmission of disease occurs almost exclusively through the paternal allele, suggesting that this locus may be maternally imprinted. There are pseudogenes for this gene on chromosomes 1, 2, 3, 7, and 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2013]

CNOT6LP1 Gene

CCR4-NOT transcription complex, subunit 6-like pseudogene 1

MIS12 Gene

MIS12 kinetochore complex component

MED12L Gene

mediator complex subunit 12-like

The protein encoded by this gene is part of the Mediator complex, which is involved in transcriptional coactivation of nearly all RNA polymerase II-dependent genes. The Mediator complex links gene-specific transcriptional activators with the basal transcription machinery. [provided by RefSeq, May 2010]

LIN54 Gene

lin-54 DREAM MuvB core complex component

LIN54 is a component of the LIN, or DREAM, complex, an essential regulator of cell cycle genes (Schmit et al., 2009 [PubMed 19725879]).[supplied by OMIM, Dec 2010]

LIN52 Gene

lin-52 DREAM MuvB core complex component

NPIPB5 Gene

nuclear pore complex interacting protein family, member B5

LOC613037 Gene

nuclear pore complex interacting protein pseudogene

ATP5EP1 Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit pseudogene 1

ATP5EP2 Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit pseudogene 2

COPB1 Gene

coatomer protein complex, subunit beta 1

This gene encodes a protein subunit of the coatomer complex associated with non-clathrin coated vesicles. The coatomer complex, also known as the coat protein complex 1, forms in the cytoplasm and is recruited to the Golgi by activated guanosine triphosphatases. Once at the Golgi membrane, the coatomer complex may assist in the movement of protein and lipid components back to the endoplasmic reticulum. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2009]

COPB2 Gene

coatomer protein complex, subunit beta 2 (beta prime)

The Golgi coatomer complex (see MIM 601924) constitutes the coat of nonclathrin-coated vesicles and is essential for Golgi budding and vesicular trafficking. It consists of 7 protein subunits, including COPB2.[supplied by OMIM, Jul 2002]

LOC100288663 Gene

actin related protein 2/3 complex, subunit 1A, 41kDa pseudogene

NELFB Gene

negative elongation factor complex member B

NELFB is a subunit of negative elongation factor (NELF), which also includes NELFA (WHSC2; MIM 606026), either NELFC or NELFD (TH1L; MIM 605297), and NELFE (RDBP; MIM 154040). NELF acts with DRB sensitivity-inducing factor (DSIF), a heterodimer of SPT4 (SUPT4H1; MIM 603555) and SPT5 (SUPT5H; MIM 602102), to cause transcriptional pausing of RNA polymerase II (see MIM 180660) (Narita et al., 2003 [PubMed 12612062]).[supplied by OMIM, Mar 2008]

NELFA Gene

negative elongation factor complex member A

This gene is expressed ubiquitously with higher levels in fetal than in adult tissues. It encodes a protein sharing 93% sequence identity with the mouse protein. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene is mapped to the 165 kb WHS critical region, and may play a role in the phenotype of the WHS or Pitt-Rogers-Danks syndrome. The encoded protein is found to be capable of reacting with HLA-A2-restricted and tumor-specific cytotoxic T lymphocytes, suggesting a target for use in specific immunotherapy for a large number of cancer patients. This protein has also been shown to be a member of the NELF (negative elongation factor) protein complex that participates in the regulation of RNA polymerase II transcription elongation. [provided by RefSeq, Jul 2008]

NELFE Gene

negative elongation factor complex member E

The protein encoded by this gene is part of a complex termed negative elongation factor (NELF) which represses RNA polymerase II transcript elongation. This protein bears similarity to nuclear RNA-binding proteins; however, it has not been demonstrated that this protein binds RNA. The protein contains a tract of alternating basic and acidic residues, largely arginine (R) and aspartic acid (D). The gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. [provided by RefSeq, Jul 2008]

ATP5G2P1 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9) pseudogene 1

ATP5G2P3 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9) pseudogene 3

ATP5G2P2 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9) pseudogene 2

ATP5G2P4 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9) pseudogene 4

MED1 Gene

mediator complex subunit 1

The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. It also regulates p53-dependent apoptosis and it is essential for adipogenesis. This protein is known to have the ability to self-oligomerize. [provided by RefSeq, Jul 2008]

MED6 Gene

mediator complex subunit 6

MED4 Gene

mediator complex subunit 4

This gene encodes a component of the Mediator complex. The Mediator complex interacts with DNA-binding gene-specific transcription factors to modulate transcription by RNA polymerase II. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]

MED8 Gene

mediator complex subunit 8

This gene encodes a protein component of the mediator complex, which aids in transcriptional activation through interaction with RNA polymerase II and gene-specific transcription factors. The encoded protein may also function in ubiquitin ligation and protein degradation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013]

MED9 Gene

mediator complex subunit 9

The multiprotein Mediator complex is a coactivator required for activation of RNA polymerase II transcription by DNA bound transcription factors. The protein encoded by this gene is thought to be a subunit of the Mediator complex. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]

AP3S2 Gene

adaptor-related protein complex 3, sigma 2 subunit

AP3S1 Gene

adaptor-related protein complex 3, sigma 1 subunit

LOC340569 Gene

origin recognition complex, subunit 1 pseudogene

HCG4P1 Gene

HLA complex group 4 pseudogene 1

HCG4P2 Gene

HLA complex group 4 pseudogene 2

HCG4P3 Gene

HLA complex group 4 pseudogene 3

HCG4P4 Gene

HLA complex group 4 pseudogene 4

HCG4P5 Gene

HLA complex group 4 pseudogene 5

HCG4P7 Gene

HLA complex group 4 pseudogene 7

HCG4P8 Gene

HLA complex group 4 pseudogene 8

HCG4P9 Gene

HLA complex group 4 pseudogene 9

CD3D Gene

CD3d molecule, delta (CD3-TCR complex)

The protein encoded by this gene is part of the T-cell receptor/CD3 complex (TCR/CD3 complex) and is involved in T-cell development and signal transduction. The encoded membrane protein represents the delta subunit of the CD3 complex, and along with four other CD3 subunits, binds either TCR alpha/beta or TCR gamma/delta to form the TCR/CD3 complex on the surface of T-cells. Defects in this gene are a cause of severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-positive (SCIDBNK). Two transcript variants encoding different isoforms have been found for this gene. Other variants may also exist, but the full-length natures of their transcripts has yet to be defined. [provided by RefSeq, Feb 2009]

CD3E Gene

CD3e molecule, epsilon (CD3-TCR complex)

The protein encoded by this gene is the CD3-epsilon polypeptide, which together with CD3-gamma, -delta and -zeta, and the T-cell receptor alpha/beta and gamma/delta heterodimers, forms the T-cell receptor-CD3 complex. This complex plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. The genes encoding the epsilon, gamma and delta polypeptides are located in the same cluster on chromosome 11. The epsilon polypeptide plays an essential role in T-cell development. Defects in this gene cause immunodeficiency. This gene has also been linked to a susceptibility to type I diabetes in women. [provided by RefSeq, Jul 2008]

CD3G Gene

CD3g molecule, gamma (CD3-TCR complex)

The protein encoded by this gene is the CD3-gamma polypeptide, which together with CD3-epsilon, -delta and -zeta, and the T-cell receptor alpha/beta and gamma/delta heterodimers, forms the T-cell receptor-CD3 complex. This complex plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. The genes encoding the epsilon, gamma and delta polypeptides are located in the same cluster on chromosome 11. Defects in this gene are associated with T cell immunodeficiency. [provided by RefSeq, Jul 2008]

HCG24 Gene

HLA complex group 24 (non-protein coding)

HCG26 Gene

HLA complex group 26 (non-protein coding)

VKORC1 Gene

vitamin K epoxide reductase complex, subunit 1

Vitamin K is essential for blood clotting but must be enzymatically activated. This enzymatically activated form of vitamin K is a reduced form required for the carboxylation of glutamic acid residues in some blood-clotting proteins. The product of this gene encodes the enzyme that is responsible for reducing vitamin K 2,3-epoxide to the enzymatically activated form. Fatal bleeding can be caused by vitamin K deficiency and by the vitamin K antagonist warfarin, and it is the product of this gene that is sensitive to warfarin. In humans, mutations in this gene can be associated with deficiencies in vitamin-K-dependent clotting factors and, in humans and rats, with warfarin resistance. Two pseudogenes have been identified on chromosome 1 and the X chromosome. Two alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

ATP5HP1 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d, pseudogene 1

ATP5HP3 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d, pseudogene 3

ATP5HP2 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d, pseudogene 2

ATP5HP4 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d, pseudogene 4

VKORC1L1 Gene

vitamin K epoxide reductase complex, subunit 1-like 1

LOC646794 Gene

SNF8, ESCRT-II complex subunit, homolog (S. cerevisiae) pseudogene

BLOC1S5 Gene

biogenesis of lysosomal organelles complex-1, subunit 5, muted

This gene encodes a component of BLOC-1 (biogenesis of lysosome-related organelles complex 1). Components of this complex are involved in the biogenesis of organelles such as melanosomes and platelet-dense granules. A mouse model for Hermansky-Pudlak Syndrome is mutated in the murine version of this gene. Alternative splicing results in multiple transcript variants. Read-through transcription exists between this gene and the upstream EEF1E1 (eukaryotic translation elongation factor 1 epsilon 1) gene, as well as with the downstream TXNDC5 (thioredoxin domain containing 5) gene. [provided by RefSeq, Dec 2010]

BLOC1S3 Gene

biogenesis of lysosomal organelles complex-1, subunit 3

This gene encodes a protein that is a component of the BLOC1 multi-subunit protein complex. This complex is necessary for the biogenesis of specialized organelles of the endosomal-lysosomal system, including platelet dense granules and melanosomes. Mutations in this gene cause Hermansky-Pudlak syndrome 8, a disease characterized by lysosomal storage defects, bleeding due to platelet storage pool deficiency, and oculocutaneous albinism. [provided by RefSeq, Jul 2008]

BLOC1S2 Gene

biogenesis of lysosomal organelles complex-1, subunit 2

This gene encodes a protein with multiple functions. The encoded protein has been found in association with the centrosome, shown to co-localize with gamma-tubulin, and also found to be one of the proteins in the BLOC-1 complex which functions in the formation of lysosome-related organelles. A pseudogene of this gene is located on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]

EMC9 Gene

ER membrane protein complex subunit 9

EMC8 Gene

ER membrane protein complex subunit 8

EMC3 Gene

ER membrane protein complex subunit 3

EMC2 Gene

ER membrane protein complex subunit 2

EMC1 Gene

ER membrane protein complex subunit 1

This gene encodes a single-pass type I transmembrane protein, which is a subunit of the endoplasmic reticulum membrane protein complex (EMC). Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2012]

EMC7 Gene

ER membrane protein complex subunit 7

EMC6 Gene

ER membrane protein complex subunit 6

EMC4 Gene

ER membrane protein complex subunit 4

CNC2 Gene

Carney complex type 2, multiple neoplasia and lentiginosis

EXOC2 Gene

exocyst complex component 2

The protein encoded by this gene is a component of the exocyst complex, a multi-protein complex essential for the polarized targeting of exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and the functions of the exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. This interaction has been shown to mediate filopodia formation in fibroblasts. This protein has been shown to interact with the Ral subfamily of GTPases and thereby mediate exocytosis by tethering vesicles to the plasma membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]

EXOC3 Gene

exocyst complex component 3

The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. The complex is also essential for the biogenesis of epithelial cell surface polarity. [provided by RefSeq, Jul 2008]

EXOC1 Gene

exocyst complex component 1

The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of the exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]

EXOC6 Gene

exocyst complex component 6

The product of this gene belongs to the SEC15 family. It is highly similar to the protein encoded by Saccharomyces cerevisiae SEC15 gene. This protein is essential for vesicular traffic from the Golgi apparatus to the cell surface in yeast. It is one of the components of a multiprotein complex required for exocytosis. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

EXOC7 Gene

exocyst complex component 7

The protein encoded by this gene is a component of the exocyst complex. The exocyst complex plays a critical role in vesicular trafficking and the secretory pathway by targeting post-Golgi vesicles to the plasma membrane. The encoded protein is required for assembly of the exocyst complex and docking of the complex to the plasma membrane. The encoded protein may also play a role in pre-mRNA splicing through interactions with pre-mRNA-processing factor 19. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 4. [provided by RefSeq, Nov 2011]

EXOC4 Gene

exocyst complex component 4

The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. The complex is also essential for the biogenesis of epithelial cell surface polarity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

EXOC5 Gene

exocyst complex component 5

The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. The complex is also essential for the biogenesis of epithelial cell surface polarity. [provided by RefSeq, Jul 2008]

EXOC8 Gene

exocyst complex component 8

EZH1 Gene

enhancer of zeste 1 polycomb repressive complex 2 subunit

EZH1 is a component of a noncanonical Polycomb repressive complex-2 (PRC2) that mediates methylation of histone H3 (see MIM 602812) lys27 (H3K27) and functions in the maintenance of embryonic stem cell pluripotency and plasticity (Shen et al., 2008 [PubMed 19026780]).[supplied by OMIM, Mar 2009]

EZH2 Gene

enhancer of zeste 2 polycomb repressive complex 2 subunit

This gene encodes a member of the Polycomb-group (PcG) family. PcG family members form multimeric protein complexes, which are involved in maintaining the transcriptional repressive state of genes over successive cell generations. This protein associates with the embryonic ectoderm development protein, the VAV1 oncoprotein, and the X-linked nuclear protein. This protein may play a role in the hematopoietic and central nervous systems. Multiple alternatively splcied transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Feb 2011]

TEN1 Gene

TEN1 CST complex subunit

C17ORF106, or TEN1, appears to function in a telomere-associated complex with STN1 (OBFC1; MIM 613128) and CTC1 (C17ORF68; MIM 613129) (Miyake et al., 2009 [PubMed 19854130]).[supplied by OMIM, Nov 2009]

KANSL3 Gene

KAT8 regulatory NSL complex subunit 3

KANSL2 Gene

KAT8 regulatory NSL complex subunit 2

KANSL1 Gene

KAT8 regulatory NSL complex subunit 1

This gene encodes a nuclear protein that is a subunit of two protein complexes involved with histone acetylation, the MLL1 complex and the NSL1 complex. The corresponding protein in Drosophila interacts with K(lysine) acetyltransferase 8, which is also a subunit of both the MLL1 and NSL1 complexes. [provided by RefSeq, Jun 2012]

MCMBP Gene

minichromosome maintenance complex binding protein

This gene encodes a protein which is a component of the hexameric minichromosome maintenance (MCM) complex which regulates initiation and elongation of DNA. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

LOC441241 Gene

vitamin K epoxide reductase complex, subunit 1-like 1 pseudogene

SPCS2P1 Gene

signal peptidase complex subunit 2 homolog (S. cerevisiae) pseudogene 1

SPCS2P2 Gene

signal peptidase complex subunit 2 homolog (S. cerevisiae) pseudogene 2

INTS3 Gene

integrator complex subunit 3

INTS3 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]). INTS3 is also a subunit of single-stranded DNA (ssDNA)-binding complexes involved in the maintenance of genome stability (Huang et al., 2009) [PubMed 19683501].[supplied by OMIM, Feb 2010]

INTS2 Gene

integrator complex subunit 2

INTS2 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]

INTS1 Gene

integrator complex subunit 1

INTS1 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]

INTS7 Gene

integrator complex subunit 7

This gene encodes a subunit of the integrator complex. The integrator complex associates with the C-terminal domain of RNA polymerase II and mediates 3'-end processing of the small nuclear RNAs U1 and U2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]

INTS6 Gene

integrator complex subunit 6

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. The protein encoded by this gene is a DEAD box protein that is part of a complex that interacts with the C-terminus of RNA polymerase II and is involved in 3' end processing of snRNAs. In addition, this gene is a candidate tumor suppressor and is located in the critical region of loss of heterozygosity (LOH). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2015]

INTS5 Gene

integrator complex subunit 5

INTS5 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]

INTS4 Gene

integrator complex subunit 4

INTS4 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]

INTS9 Gene

integrator complex subunit 9

This gene encodes a subunit of the Integrator complex. This protein complex binds the C-terminal domain of RNA polymerase II and likely plays a role in small nuclear RNA processing. The encoded protein has similarities to the subunits of the cleavage and polyadenylation specificity factor complex. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010]

INTS8 Gene

integrator complex subunit 8

This gene encodes a subunit of the Integrator complex which is involved in the cleavage of small nuclear RNAs U1 and U2 within the nucleus. The encoded protein associates with RNA polymerase II and is recruited to the U1 and U2 small nuclear RNA genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]

LOC642502 Gene

succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa pseudogene

ATP5G3 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9)

This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene is one of three genes that encode subunit c of the proton channel. Each of the three genes have distinct mitochondrial import sequences but encode the identical mature protein. Alternatively spliced transcript variants encoding different proteins have been identified. [provided by RefSeq, Jun 2010]

ATP5G2 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9)

This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and single representatives of the gamma, delta, and epsilon subunits. The proton channel likely has nine subunits (a, b, c, d, e, f, g, F6 and 8). There are three separate genes which encode subunit c of the proton channel and they specify precursors with different import sequences but identical mature proteins. The protein encoded by this gene is one of three precursors of subunit c. Alternatively spliced transcript variants encoding different isoforms have been identified. This gene has multiple pseudogenes. [provided by RefSeq, Jun 2010]

SNF8 Gene

SNF8, ESCRT-II complex subunit

SNF8, VPS25 (MIM 610907), and VPS36 (MIM 610903) form ESCRT-II (endosomal sorting complex required for transport II), a complex involved in endocytosis of ubiquitinated membrane proteins. SNF8, VPS25, and VPS36 are also associated in a multiprotein complex with RNA polymerase II elongation factor (ELL; MIM 600284) (Slagsvold et al., 2005 [PubMed 15755741]; Kamura et al., 2001 [PubMed 11278625]).[supplied by OMIM, Mar 2008]

DGS2 Gene

DiGeorge syndrome/velocardiofacial syndrome complex 2

HLA-DPA1 Gene

major histocompatibility complex, class II, DP alpha 1

HLA-DPA1 belongs to the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DPA) and a beta (DPB) chain, both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The alpha chain is approximately 33-35 kDa and its gene contains 5 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and the cytoplasmic tail. Within the DP molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to 4 different molecules. [provided by RefSeq, Jul 2008]

HLA-DPA3 Gene

major histocompatibility complex, class II, DP alpha 3 (pseudogene)

HLA-DPA2 Gene

major histocompatibility complex, class II, DP alpha 2 (pseudogene)

MED28P3 Gene

mediator complex subunit 28 pseudogene 3

MED28P1 Gene

mediator complex subunit 28 pseudogene 1

MED28P7 Gene

mediator complex subunit 28 pseudogene 7

MED28P4 Gene

mediator complex subunit 28 pseudogene 4

MED28P8 Gene

mediator complex subunit 28 pseudogene 8

CNOT4P1 Gene

CCR4-NOT transcription complex, subunit 4 pseudogene 1

GID4 Gene

GID complex subunit 4

The multiprotein Mediator complex is a coactivator required for activation of RNA polymerase II transcription by DNA bound transcription factors. The protein encoded by this gene is thought to be a subunit of the Mediator complex. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]

GID8 Gene

GID complex subunit 8

ANAPC13 Gene

anaphase promoting complex subunit 13

This gene encodes a component of the anaphase promoting complex, a large ubiquitin-protein ligase that controls cell cycle progression by regulating the degradation of cell cycle regulators such as B-type cyclins. The encoded protein is evolutionarily conserved and is required for the integrity and ubiquitin ligase activity of the anaphase promoting complex. Pseudogenes and splice variants have been found for this gene; however, the biological validity of some of the splice variants has not been determined. [provided by RefSeq, Nov 2008]

LOC730268 Gene

anaphase-promoting complex subunit 1-like

LOC101060275 Gene

nuclear pore complex-interacting protein family member B4-like

LOC102724642 Gene

anaphase-promoting complex subunit 1-like

LOC101060022 Gene

nascent polypeptide-associated complex subunit alpha, muscle-specific form-like

HLA-DRB8 Gene

major histocompatibility complex, class II, DR beta 8 (pseudogene)

HLA-DRB9 Gene

major histocompatibility complex, class II, DR beta 9 (pseudogene)

HLA-DRB2 Gene

major histocompatibility complex, class II, DR beta 2 (pseudogene)

HLA-DRB3 Gene

major histocompatibility complex, class II, DR beta 3

HLA-DRB3 belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DRA) and a beta (DRB) chain, both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. DRB1 is expressed at a level five times higher than its paralogues DRB3, DRB4 and DRB5. The presence of DRB3 is linked with allelic variants of DRB1, otherwise it is omitted. There are 4 related pseudogenes: DRB2, DRB6, DRB7, DRB8 and DRB9. [provided by RefSeq, Jul 2008]

HLA-DRB1 Gene

major histocompatibility complex, class II, DR beta 1

HLA-DRB1 belongs to the HLA class II beta chain paralogs. The class II molecule is a heterodimer consisting of an alpha (DRA) and a beta chain (DRB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa. It is encoded by 6 exons. Exon one encodes the leader peptide; exons 2 and 3 encode the two extracellular domains; exon 4 encodes the transmembrane domain; and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Hundreds of DRB1 alleles have been described and typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. DRB1 is expressed at a level five times higher than its paralogs DRB3, DRB4 and DRB5. DRB1 is present in all individuals. Allelic variants of DRB1 are linked with either none or one of the genes DRB3, DRB4 and DRB5. There are 4 related pseudogenes: DRB2, DRB6, DRB7, DRB8 and DRB9. [provided by RefSeq, Jul 2008]

HLA-DRB6 Gene

major histocompatibility complex, class II, DR beta 6 (pseudogene)

HLA-DRB7 Gene

major histocompatibility complex, class II, DR beta 7 (pseudogene)

HLA-DRB4 Gene

major histocompatibility complex, class II, DR beta 4

HLA-DRB4 belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DRA) and a beta (DRB) chain, both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. DRB1 is expressed at a level five times higher than its paralogues DRB3, DRB4 and DRB5. The presence of DRB4 is linked with allelic variants of DRB1, otherwise it is omitted. There are 4 related pseudogenes: DRB2, DRB6, DRB7, DRB8 and DRB9. [provided by RefSeq, Jul 2008]

HLA-DRB5 Gene

major histocompatibility complex, class II, DR beta 5

HLA-DRB5 belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DRA) and a beta (DRB) chain, both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. DRB1 is expressed at a level five times higher than its paralogues DRB3, DRB4 and DRB5. The presence of DRB5 is linked with allelic variants of DRB1, otherwise it is omitted. There are 4 related pseudogenes: DRB2, DRB6, DRB7, DRB8 and DRB9. [provided by RefSeq, Jul 2008]

LOC100420746 Gene

NADH dehydrogenase (ubiquinone) complex I, assembly factor 7 pseudogene

CNOT6L Gene

CCR4-NOT transcription complex, subunit 6-like

SPEG Gene

SPEG complex locus

This gene encodes a protein with similarity to members of the myosin light chain kinase family. This protein family is required for myocyte cytoskeletal development. Studies in mouse have determined that a lack of this protein affected myocardial development. Multiple alternatively spliced transcript variants have been reported for this gene, but the full-length nature of only two variants that encode different protein isoforms has been defined. [provided by RefSeq, Mar 2010]

GNAS Gene

GNAS complex locus

This locus has a highly complex imprinted expression pattern. It gives rise to maternally, paternally, and biallelically expressed transcripts that are derived from four alternative promoters and 5' exons. Some transcripts contain a differentially methylated region (DMR) at their 5' exons, and this DMR is commonly found in imprinted genes and correlates with transcript expression. An antisense transcript is produced from an overlapping locus on the opposite strand. One of the transcripts produced from this locus, and the antisense transcript, are paternally expressed noncoding RNAs, and may regulate imprinting in this region. In addition, one of the transcripts contains a second overlapping ORF, which encodes a structurally unrelated protein - Alex. Alternative splicing of downstream exons is also observed, which results in different forms of the stimulatory G-protein alpha subunit, a key element of the classical signal transduction pathway linking receptor-ligand interactions with the activation of adenylyl cyclase and a variety of cellular reponses. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene result in pseudohypoparathyroidism type 1a, pseudohypoparathyroidism type 1b, Albright hereditary osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright syndrome, progressive osseus heteroplasia, polyostotic fibrous dysplasia of bone, and some pituitary tumors. [provided by RefSeq, Aug 2012]

INTS6P1 Gene

integrator complex subunit 6 pseudogene 1

NPIPA8 Gene

nuclear pore complex interacting protein family, member A8

NPIPA5 Gene

nuclear pore complex interacting protein family, member A5

NPIPA7 Gene

nuclear pore complex interacting protein family, member A7

NPIPA1 Gene

nuclear pore complex interacting protein family, member A1

NPIPA2 Gene

nuclear pore complex interacting protein family, member A2

NPIPA3 Gene

nuclear pore complex interacting protein family, member A3

LOC101928892 Gene

nascent polypeptide-associated complex subunit alpha, muscle-specific form-like

COPZ1 Gene

coatomer protein complex, subunit zeta 1

This gene encodes a subunit of the cytoplasmic coatamer protein complex, which is involved in autophagy and intracellular protein trafficking. The coatomer protein complex is comprised of seven subunits and functions as the coat protein of coat protein complex (COP)I-vesicles. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]

COPZ2 Gene

coatomer protein complex, subunit zeta 2

This gene encodes a member of the adaptor complexes small subunit family. The encoded protein is a subunit of the coatomer protein complex, a seven-subunit complex that functions in the formation of COPI-type, non-clathrin-coated vesicles. COPI vesicles function in the retrograde Golgi-to-ER transport of dilysine-tagged proteins. [provided by RefSeq, Feb 2014]

TCP11 Gene

t-complex 11, testis-specific

TCP10 Gene

t-complex 10

SYCE3 Gene

synaptonemal complex central element protein 3

COPG2 Gene

coatomer protein complex, subunit gamma 2

COPG1 Gene

coatomer protein complex, subunit gamma 1

SDHCP1 Gene

succinate dehydrogenase complex, subunit C pseudogene 1

SDHCP2 Gene

succinate dehydrogenase complex, subunit C pseudogene 2

SDHCP3 Gene

succinate dehydrogenase complex, subunit C pseudogene 3

SDHCP4 Gene

succinate dehydrogenase complex, subunit C pseudogene 4

HCG15 Gene

HLA complex group 15 (non-protein coding)

HCG11 Gene

HLA complex group 11 (non-protein coding)

LOC100420127 Gene

mediator complex subunit 13 pseudogene

NOC4L Gene

nucleolar complex associated 4 homolog (S. cerevisiae)

KHDC3L Gene

KH domain containing 3-like, subcortical maternal complex member

The protein encoded by this gene belongs to the KHDC1 family, members of which contain an atypical KH domain that may not bind RNA like canonical KH domains. This gene is specifically expressed in the oocytes, and recent studies suggest that it may function as a regulator of genomic imprinting in the oocyte. Mutations in this gene are associated with recurrent biparental complete hydatidiform mole. [provided by RefSeq, Dec 2011]

CD74 Gene

CD74 molecule, major histocompatibility complex, class II invariant chain

The protein encoded by this gene associates with class II major histocompatibility complex (MHC) and is an important chaperone that regulates antigen presentation for immune response. It also serves as cell surface receptor for the cytokine macrophage migration inhibitory factor (MIF) which, when bound to the encoded protein, initiates survival pathways and cell proliferation. This protein also interacts with amyloid precursor protein (APP) and suppresses the production of amyloid beta (Abeta). Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]

EXOC7P1 Gene

exocyst complex component 7 pseudogene 1

HCG19P Gene

HLA complex group 19 pseudogene

ASCC3 Gene

activating signal cointegrator 1 complex subunit 3

This gene encodes a protein that belongs to a family of helicases that are involved in the ATP-dependent unwinding of nucleic acid duplexes. The encoded protein is the largest subunit of the activating signal cointegrator 1 complex that is involved in DNA repair and resistance to alkylation damage. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

ASCC2 Gene

activating signal cointegrator 1 complex subunit 2

ASCC1 Gene

activating signal cointegrator 1 complex subunit 1

This gene encodes a subunit of the activating signal cointegrator 1 (ASC-1) complex. The ASC-1 complex is a transcriptional coactivator that plays an important role in gene transactivation by multiple transcription factors including activating protein 1 (AP-1), nuclear factor kappa-B (NF-kB) and serum response factor (SRF). The encoded protein contains an N-terminal KH-type RNA-binding motif which is required for AP-1 transactivation by the ASC-1 complex. Mutations in this gene are associated with Barrett esophagus and esophageal adenocarcinoma. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

LOC105379572 Gene

KAT8 regulatory NSL complex subunit 1-like

SPCS2P4 Gene

signal peptidase complex subunit 2 homolog (S. cerevisiae) pseudogene 4

SPCS2P3 Gene

signal peptidase complex subunit 2 homolog (S. cerevisiae) pseudogene 3

ATP5A1P4 Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 4

ATP5A1P5 Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 5

ATP5A1P7 Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 7

ATP5A1P2 Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 2

ATP5A1P3 Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 3

ATP5A1P8 Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 8

LY6G6F Gene

lymphocyte antigen 6 complex, locus G6F

The human G6f protein is a type I transmembrane protein belonging to the immunoglobin (Ig) superfamily, which is comprised of cell-surface proteins involved in the immune system and cellular recognition (de Vet et al., 2003 [PubMed 12852788]).[supplied by OMIM, Mar 2008]

AP2S1 Gene

adaptor-related protein complex 2, sigma 1 subunit

One of two major clathrin-associated adaptor complexes, AP-2, is a heterotetramer which is associated with the plasma membrane. This complex is composed of two large chains, a medium chain, and a small chain. This gene encodes the small chain of this complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

NDUFA4 Gene

NDUFA4, mitochondrial complex associated

The protein encoded by this gene belongs to the complex I 9kDa subunit family. Mammalian complex I of mitochondrial respiratory chain is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. [provided by RefSeq, Jul 2008]

SYCE2 Gene

synaptonemal complex central element protein 2

The protein encoded by this gene is part of the synaptonemal complex formed between homologous chromosomes during meiotic prophase. The encoded protein associates with SYCP1 and SYCE1 and is found only where chromosome cores are synapsed. [provided by RefSeq, Dec 2012]

HAUS8 Gene

HAUS augmin-like complex, subunit 8

HAUS8 is 1 of 8 subunits of the 390-kD human augmin complex, or HAUS complex. The augmin complex was first identified in Drosophila, and its name comes from the Latin verb 'augmentare,' meaning 'to increase.' The augmin complex is a microtubule-binding complex involved in microtubule generation within the mitotic spindle and is vital to mitotic spindle assembly (Goshima et al., 2008 [PubMed 18443220]; Uehara et al., 2009 [PubMed 19369198]).[supplied by OMIM, Jun 2010]

HAUS6 Gene

HAUS augmin-like complex, subunit 6

The protein encoded by this gene is a subunit of the augmin complex. The augmin complex plays a role in microtubule attachment to the kinetochore and central spindle formation. This protein may have a role in efficient chromosome congression and segregation by promoting microtubule-dependent microtubule amplification. Pseudogenes of this gene are located on chromosomes 7 and 20. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]

HAUS7 Gene

HAUS augmin-like complex, subunit 7

This gene encodes a subunit of the augmin complex, which regulates centrosome and mitotic spindle integrity, and is necessary for the completion of cytokinesis. The encoded protein was identified by interaction with ubiquitin C-terminal hydrolase 37. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012]

HAUS4 Gene

HAUS augmin-like complex, subunit 4

This gene encodes a subunit of the centrosome complex termed the human augmin complex. The encoded protein localizes to the spindle microtubules and may play a role in mitotic spindle assembly and maintenance of centrosome integrity during cell division. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 1. [provided by RefSeq, Oct 2009]

HAUS5 Gene

HAUS augmin-like complex, subunit 5

HAUS5 is 1 of 8 subunits of the 390-kD human augmin complex, or HAUS complex. The augmin complex was first identified in Drosophila, and its name comes from the Latin verb 'augmentare,' meaning 'to increase.' The augmin complex is a microtubule-binding complex involved in microtubule generation within the mitotic spindle and is vital to mitotic spindle assembly (Goshima et al., 2008 [PubMed 18443220]; Uehara et al., 2009 [PubMed 19369198]).[supplied by OMIM, Jun 2010]

HAUS2 Gene

HAUS augmin-like complex, subunit 2

HAUS2 is 1 of 8 subunits of the 390-kD human augmin complex, or HAUS complex. The augmin complex was first identified in Drosophila, and its name comes from the Latin verb 'augmentare,' meaning 'to increase.' The augmin complex is a microtubule-binding complex involved in microtubule generation within the mitotic spindle and is vital to mitotic spindle assembly (Goshima et al., 2008 [PubMed 18443220]; Uehara et al., 2009 [PubMed 19369198]).[supplied by OMIM, Jun 2010]

HAUS3 Gene

HAUS augmin-like complex, subunit 3

This gene encodes a component of the HAUS augmin-like protein complex, which plays a key role in cytokinesis and mitosis. Disruption of the encoded protein causes mitotic defects resulting from fragmentation of centrosomes and microtubule destabilization. This gene shares its 5' exons with some transcripts from overlapping GeneID: 353497, which encodes a DNA polymerase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

HAUS1 Gene

HAUS augmin-like complex, subunit 1

HAUS1 is 1 of 8 subunits of the 390-kD human augmin complex, or HAUS complex. The augmin complex was first identified in Drosophila, and its name comes from the Latin verb 'augmentare,' meaning 'to increase.' The augmin complex is a microtubule-binding complex involved in microtubule generation within the mitotic spindle and is vital to mitotic spindle assembly (Goshima et al., 2008 [PubMed 18443220]; Uehara et al., 2009 [PubMed 19369198]).[supplied by OMIM, Jun 2010]

ATP5A1P10 Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 10

ARPIN Gene

actin-related protein 2/3 complex inhibitor

LOC100130783 Gene

NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 pseudogene

LOC401010 Gene

nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene

GOSR2 Gene

golgi SNAP receptor complex member 2

This gene encodes a trafficking membrane protein which transports proteins among the medial- and trans-Golgi compartments. Due to its chromosomal location and trafficking function, this gene may be involved in familial essential hypertension. Three transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

LOC100132812 Gene

nascent polypeptide-associated complex alpha subunit 2 pseudogene

CIITA Gene

class II, major histocompatibility complex, transactivator

This gene encodes a protein with an acidic transcriptional activation domain, 4 LRRs (leucine-rich repeats) and a GTP binding domain. The protein is located in the nucleus and acts as a positive regulator of class II major histocompatibility complex gene transcription, and is referred to as the "master control factor" for the expression of these genes. The protein also binds GTP and uses GTP binding to facilitate its own transport into the nucleus. Once in the nucleus it does not bind DNA but rather uses an intrinsic acetyltransferase (AT) activity to act in a coactivator-like fashion. Mutations in this gene have been associated with bare lymphocyte syndrome type II (also known as hereditary MHC class II deficiency or HLA class II-deficient combined immunodeficiency), increased susceptibility to rheumatoid arthritis, multiple sclerosis, and possibly myocardial infarction. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]

MED10 Gene

mediator complex subunit 10

MED10 is a component of the Mediator complex, which is a coactivator for DNA-binding factors that activate transcription via RNA polymerase II (Sato et al., 2003 [PubMed 12584197]).[supplied by OMIM, Oct 2008]

MED11 Gene

mediator complex subunit 11

MED11 is a component of the Mediator complex, which is a coactivator for DNA-binding factors that activate transcription via RNA polymerase II (Sato et al., 2003 [PubMed 12584197]).[supplied by OMIM, Oct 2008]

MED12 Gene

mediator complex subunit 12

The initiation of transcription is controlled in part by a large protein assembly known as the preinitiation complex. A component of this preinitiation complex is a 1.2 MDa protein aggregate called Mediator. This Mediator component binds with a CDK8 subcomplex which contains the protein encoded by this gene, mediator complex subunit 12 (MED12), along with MED13, CDK8 kinase, and cyclin C. The CDK8 subcomplex modulates Mediator-polymerase II interactions and thereby regulates transcription initiation and reinitation rates. The MED12 protein is essential for activating CDK8 kinase. Defects in this gene cause X-linked Opitz-Kaveggia syndrome, also known as FG syndrome, and Lujan-Fryns syndrome. [provided by RefSeq, Aug 2009]

MED13 Gene

mediator complex subunit 13

This gene encodes a component of the mediator complex (also known as TRAP, SMCC, DRIP, or ARC), a transcriptional coactivator complex thought to be required for the expression of almost all genes. The mediator complex is recruited by transcriptional activators or nuclear receptors to induce gene expression, possibly by interacting with RNA polymerase II and promoting the formation of a transcriptional pre-initiation complex. The product of this gene is proposed to form a sub-complex with MED12, cyclin C, and CDK8 that can negatively regulate transactivation by mediator. [provided by RefSeq, Jul 2008]