Name

CTD Gene-Chemical Interactions Dataset

From Comparative Toxicogenomics Database

chemical-gene interactions curated from literature

GEO Signatures of Differentially Expressed Genes for Viral Infections Dataset

From Gene Expression Omnibus

mRNA expression profiles for cell lines or tissues following viral infection

Hub Proteins Protein-Protein Interactions Dataset

From Hub Proteins

sets of proteins interacting with hub proteins

InterPro Predicted Protein Domain Annotations Dataset

From InterPro

protein domains predicted for gene products based on sequence similarity to known domain signatures

LINCS Kinativ Kinase Inhibitor Bioactivity Profiles Dataset

From LINCS Kinativ

percent inhibition of kinases by small molecules measured in cell lysates

LINCS KinomeScan Kinase Inhibitor Targets Dataset

From LINCS KinomeScan

kinase inhibitor targets from percent inhibition of kinases by small molecules measured using purified kinases

NURSA Protein-Protein Interactions Dataset

From Nuclear Receptor Signaling Atlas

protein-protein interactions inferred from membership in complexes

Pathway Commons Protein-Protein Interactions Dataset

From Pathway Commons

protein-protein interactions from low-throughput or high-throughput studies aggregated by Pathway Commons from the following databases: Reactome, NCI Pathways, PhosphoSite, HumanCyc, HPRD, PANTHER, DIP, BioGRID, IntAct, BIND, Transfac, MiRTarBase, Drugbank, Recon X, Comparative Toxicogenomics Database, and KEGG

Virus MINT Protein-Viral Protein Interactions Dataset

From Virus MINT

interactions between viral and human proteins manually curated from literature

Virus MINT Protein-Virus Interactions Dataset

From Virus MINT

interactions between viruses and human proteins manually curated from literature

GeneRIF Biological Term Annotations Dataset

From Gene Reference Into Function

statements describing functions of genes distilled from biomedical publications

OMIM Gene-Disease Associations Dataset

From Online Mendelian Inheritance in Man

disease- or phenotype-causing gene mutations for heritable human diseases or phenotypes curated from biomedical publications

PID Pathways Dataset

From Pathway Interaction Database

sets of proteins participating in pathways

ARHGEF9-IT1 Gene

ARHGEF9 intronic transcript 1

ITGA8 Gene

integrin, alpha 8

Integrins are heterodimeric transmembrane receptor proteins that mediate numerous cellular processes including cell adhesion, cytoskeletal rearrangement, and activation of cell signaling pathways. Integrins are composed of alpha and beta subunits. This gene encodes the alpha 8 subunit of the heterodimeric integrin alpha8beta1 protein. The encoded protein is a single-pass type 1 membrane protein that contains multiple FG-GAP repeats. This repeat is predicted to fold into a beta propeller structure. This gene regulates the recruitment of mesenchymal cells into epithelial structures, mediates cell-cell interactions, and regulates neurite outgrowth of sensory and motor neurons. The integrin alpha8beta1 protein thus plays an important role in wound-healing and organogenesis. Mutations in this gene have been associated with renal hypodysplasia/aplasia-1 (RHDA1) and with several animal models of chronic kidney disease. Alternate splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2014]

ITGA9 Gene

integrin, alpha 9

This gene encodes an alpha integrin. Integrins are heterodimeric integral membrane glycoproteins composed of an alpha chain and a beta chain that mediate cell-cell and cell-matrix adhesion. The protein encoded by this gene, when bound to the beta 1 chain, forms an integrin that is a receptor for VCAM1, cytotactin and osteopontin. Expression of this gene has been found to be upregulated in small cell lung cancers. [provided by RefSeq, Jul 2008]

ITGA1 Gene

integrin, alpha 1

This gene encodes the alpha 1 subunit of integrin receptors. This protein heterodimerizes with the beta 1 subunit to form a cell-surface receptor for collagen and laminin. The heterodimeric receptor is involved in cell-cell adhesion and may play a role in inflammation and fibrosis. The alpha 1 subunit contains an inserted (I) von Willebrand factor type I domain which is thought to be involved in collagen binding. [provided by RefSeq, Jul 2008]

ITGA2 Gene

integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)

This gene encodes the alpha subunit of a transmembrane receptor for collagens and related proteins. The encoded protein forms a heterodimer with a beta subunit and mediates the adhesion of platelets and other cell types to the extracellular matrix. Loss of the encoded protein is associated with bleeding disorder platelet-type 9. Antibodies against this protein are found in several immune disorders, including neonatal alloimmune thrombocytopenia. This gene is located adjacent to a related alpha subunit gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

ITGA3 Gene

integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)

The protein encoded by this gene belongs to the family of integrins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain, and function as cell surface adhesion molecules. This gene encodes alpha 3 subunit, which undergoes post-translational cleavage in the extracellular domain to yield disulfide-linked light and heavy chains that join with beta 1 subunit to form an integrin that interacts with many extracellular-matrix proteins. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Oct 2008]

ITGA4 Gene

integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)

The product of this gene belongs to the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This gene encodes an alpha 4 chain. Unlike other integrin alpha chains, alpha 4 neither contains an I-domain, nor undergoes disulfide-linked cleavage. Alpha 4 chain associates with either beta 1 chain or beta 7 chain. [provided by RefSeq, Jul 2008]

ITGA5 Gene

integrin, alpha 5 (fibronectin receptor, alpha polypeptide)

The product of this gene belongs to the integrin alpha chain family. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This gene encodes the integrin alpha 5 chain. Alpha chain 5 undergoes post-translational cleavage in the extracellular domain to yield disulfide-linked light and heavy chains that join with beta 1 to form a fibronectin receptor. In addition to adhesion, integrins are known to participate in cell-surface mediated signalling. Integrin alpha 5 and integrin alpha V chains are produced by distinct genes. [provided by RefSeq, Jan 2015]

ITGA6 Gene

integrin, alpha 6

The ITGA6 protein product is the integrin alpha chain alpha 6. Integrins are integral cell-surface proteins composed of an alpha chain and a beta chain. A given chain may combine with multiple partners resulting in different integrins. For example, alpha 6 may combine with beta 4 in the integrin referred to as TSP180, or with beta 1 in the integrin VLA-6. Integrins are known to participate in cell adhesion as well as cell-surface mediated signalling. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

ITGA7 Gene

integrin, alpha 7

The protein encoded by this gene belongs to the integrin alpha chain family. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. They mediate a wide spectrum of cell-cell and cell-matrix interactions, and thus play a role in cell migration, morphologic development, differentiation, and metastasis. This protein functions as a receptor for the basement membrane protein laminin-1. It is mainly expressed in skeletal and cardiac muscles and may be involved in differentiation and migration processes during myogenesis. Defects in this gene are associated with congenital myopathy. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Feb 2009]

ITGAX Gene

integrin, alpha X (complement component 3 receptor 4 subunit)

This gene encodes the integrin alpha X chain protein. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This protein combines with the beta 2 chain (ITGB2) to form a leukocyte-specific integrin referred to as inactivated-C3b (iC3b) receptor 4 (CR4). The alpha X beta 2 complex seems to overlap the properties of the alpha M beta 2 integrin in the adherence of neutrophils and monocytes to stimulated endothelium cells, and in the phagocytosis of complement coated particles. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]

ITGAV Gene

integrin, alpha V

This gene encodes a protein that is a member of the integrin superfamily. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This protein undergoes post-translational cleavage to yield disulfide-linked heavy and light chains that combine with multiple integrin beta chains to form different integrins. This protein has been shown to heterodimerize with beta 1, beta 3, beta 5, beta 6, and beta 8; the heterodimer of alpha v and beta 3 is the Vitronectin receptor. This protein interacts with several extracellular matrix proteins to mediate cell adhesion and may play a role in cell migration. It is proposed that this protein may regulate angiogenesis and cancer progression. Alternative splicing results in multiple transcript variants that encode different protein isoforms. Note that the integrin alpha 5 and integrin alpha V chains are produced by distinct genes. [provided by RefSeq, Jan 2015]

ITGAL Gene

integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)

ITGAL encodes the integrin alpha L chain. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This I-domain containing alpha integrin combines with the beta 2 chain (ITGB2) to form the integrin lymphocyte function-associated antigen-1 (LFA-1), which is expressed on all leukocytes. LFA-1 plays a central role in leukocyte intercellular adhesion through interactions with its ligands, ICAMs 1-3 (intercellular adhesion molecules 1 through 3), and also functions in lymphocyte costimulatory signaling. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

ITGAM Gene

integrin, alpha M (complement component 3 receptor 3 subunit)

This gene encodes the integrin alpha M chain. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This I-domain containing alpha integrin combines with the beta 2 chain (ITGB2) to form a leukocyte-specific integrin referred to as macrophage receptor 1 ('Mac-1'), or inactivated-C3b (iC3b) receptor 3 ('CR3'). The alpha M beta 2 integrin is important in the adherence of neutrophils and monocytes to stimulated endothelium, and also in the phagocytosis of complement coated particles. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

ITGAD Gene

integrin, alpha D

ITGAE Gene

integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)

Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This gene encodes an I-domain-containing alpha integrin that undergoes post-translational cleavage in the extracellular domain, yielding disulfide-linked heavy and light chains. In combination with the beta 7 integrin, this protein forms the E-cadherin binding integrin known as the human mucosal lymphocyte-1 antigen. This protein is preferentially expressed in human intestinal intraepithelial lymphocytes (IEL), and in addition to a role in adhesion, it may serve as an accessory molecule for IEL activation. [provided by RefSeq, Jul 2008]

IGF2R Gene

insulin-like growth factor 2 receptor

This gene encodes a receptor for both insulin-like growth factor 2 and mannose 6-phosphate, although the binding sites for either are located on different segments of the receptor. This receptor functions in the intracellular trafficking of lysosomal enzymes, the activation of transforming growth factor beta, and the degradation of insulin-like growth factor 2. While the related mouse gene shows exclusive expression from the maternal allele, imprinting of the human gene appears to be polymorphic, with only a minority of individuals showing expression from the maternal allele. [provided by RefSeq, Apr 2013]

IGLVI-38 Gene

immunoglobulin lambda variable (I)-38 (pseudogene)

IGKV1OR10-1 Gene

immunoglobulin kappa variable 1/OR10-1 (pseudogene)

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]

AOAH-IT1 Gene

AOAH intronic transcript 1

INO80B-WBP1 Gene

INO80B-WBP1 readthrough (NMD candidate)

This locus represents naturally occurring read-through transcription between the neighboring INO80B (INO80 complex subunit B) and WBP1 (WW domain-binding protein 1) genes on chromosome 2. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is unlikely to produce a protein product. [provided by RefSeq, Feb 2011]

IGHVII-60-1 Gene

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

INMT-FAM188B Gene

INMT-FAM188B readthrough (NMD candidate)

This locus represents rare but naturally occurring read-through transcription between the INMT (indolethylamine N-methyltransferase) and FAM188B (family with sequence similarity 188, member B) genes on chromosome 7. The read-through transcript is unlikely to produce a protein because it is a nonsense-mediated mRNA decay (NMD) candidate based on translation from the supported INMT start codon. [provided by RefSeq, Nov 2010]

IGHV1-8 Gene

immunoglobulin heavy variable 1-8

IGHV1-3 Gene

immunoglobulin heavy variable 1-3

IGHV1-2 Gene

immunoglobulin heavy variable 1-2

IGANRP Gene

uncharacterized LOC100652933

ITM2BP1 Gene

integral membrane protein 2B pseudogene 1

IGHD6-25 Gene

immunoglobulin heavy diversity 6-25

IGHV4-4 Gene

immunoglobulin heavy variable 4-4

DPYD-IT1 Gene

DPYD intronic transcript 1

RSF1-IT1 Gene

RSF1 intronic transcript 1

RSF1-IT2 Gene

RSF1 intronic transcript 2

ITCH Gene

itchy E3 ubiquitin protein ligase

This gene encodes a member of the Nedd4 family of HECT domain E3 ubiquitin ligases. HECT domain E3 ubiquitin ligases transfer ubiquitin from E2 ubiquitin-conjugating enzymes to protein substrates, thus targeting specific proteins for lysosomal degradation. The encoded protein plays a role in multiple cellular processes including erythroid and lymphoid cell differentiation and the regulation of immune responses. Mutations in this gene are a cause of syndromic multisystem autoimmune disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]

IFT81 Gene

intraflagellar transport 81

IGAT Gene

Immune response to synthetic polypeptide--IRGAT

ITC1 Gene

hypertrichosis universalis congenita, Ambras type

IQCJ-SCHIP1 Gene

IQCJ-SCHIP1 readthrough

This locus represents naturally occurring read-through transcription from the neighboring IQ motif containing J (IQCJ) and schwannomin interacting protein 1 (SCHIP1) genes. Alternative splicing results in multiple transcript variants that are composed of in-frame exons from each individual gene. The resulting fusion products are thought to be components of the multimolecular complexes of axon initial segments and nodes of Ranvier, and they may play a role in calcium-mediated responses. [provided by RefSeq, Oct 2010]

IFT88 Gene

intraflagellar transport 88

This gene encodes a member of the tetratrico peptide repeat (TPR) family. Mutations of a similar gene in mouse can cause polycystic kidney disease. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

IGKV1-12 Gene

immunoglobulin kappa variable 1-12

IGKV1-16 Gene

immunoglobulin kappa variable 1-16

IGKV1-17 Gene

immunoglobulin kappa variable 1-17

IL18RAP Gene

interleukin 18 receptor accessory protein

The protein encoded by this gene is an accessory subunit of the heterodimeric receptor for interleukin 18 (IL18), a proinflammatory cytokine involved in inducing cell-mediated immunity. This protein enhances the IL18-binding activity of the IL18 receptor and plays a role in signaling by IL18. Mutations in this gene are associated with Crohn's disease and inflammatory bowel disease, and susceptibility to celiac disease and leprosy. Alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Feb 2014]

IGSF9B Gene

immunoglobulin superfamily, member 9B

EHMT1-IT1 Gene

EHMT1 intronic transcript 1

ASAP1-IT2 Gene

ASAP1 intronic transcript 2

ASAP1-IT1 Gene

ASAP1 intronic transcript 1

ILF3 Gene

interleukin enhancer binding factor 3, 90kDa

This gene encodes a double-stranded RNA (dsRNA) binding protein that complexes with other proteins, dsRNAs, small noncoding RNAs, and mRNAs to regulate gene expression and stabilize mRNAs. This protein (NF90, ILF3) forms a heterodimer with a 45 kDa transcription factor (NF45, ILF2) required for T-cell expression of interleukin 2. This complex has been shown to affect the redistribution of nuclear mRNA to the cytoplasm. Knockdown of NF45 or NF90 protein retards cell growth, possibly by inhibition of mRNA stabilization. In contrast, an isoform (NF110) of this gene that is predominantly restricted to the nucleus has only minor effects on cell growth when its levels are reduced. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Dec 2014]

ILF2 Gene

interleukin enhancer binding factor 2

The protein encoded by this gene is a transcription factor required for T-cell expression of the interleukin 2 gene. It also binds RNA and is an essential component for encapsidation and protein priming of hepatitis B viral polymerase. The encoded 45 kDa protein (NF45, ILF2) forms a complex with the 90 kDa interleukin enhancer-binding factor 3 (NF90, ILF3), and this complex has been shown to affect the redistribution of nuclear mRNA to the cytoplasm, to repair DNA breaks by nonhomologous end joining, and to negatively regulate the microRNA processing pathway. Knockdown of NF45 or NF90 protein retards cell growth, possibly by inhibition of mRNA stabilization. Alternative splicing results in multiple transcript variants. Related pseudogenes have been found on chromosomes 3 and 14. [provided by RefSeq, Dec 2014]

INPP4A Gene

inositol polyphosphate-4-phosphatase, type I, 107kDa

This gene encodes an Mg++ independent enzyme that hydrolyzes the 4-position phosphate from the inositol ring of phosphatidylinositol 3,4-bisphosphate, inositol 1,3,4-trisphosphate, and inositol 3,4-bisphosphate. Multiple transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Aug 2008]

IGBP1-AS1 Gene

IGBP1 antisense RNA 1

IGHV5-78 Gene

immunoglobulin heavy variable 5-78 (pseudogene)

CDC42-IT1 Gene

CDC42 intronic transcript 1

IFNWP9 Gene

interferon, omega 1 pseudogene 9

IFNWP2 Gene

interferon, omega 1 pseudogene 2

IFNWP5 Gene

interferon, omega 1 pseudogene 5

IL21 Gene

interleukin 21

This gene encodes a member of the common-gamma chain family of cytokines with immunoregulatory activity. The encoded protein plays a role in both the innate and adaptive immune responses by inducing the differentiation, proliferation and activity of multiple target cells including macrophages, natural killer cells, B cells and cytotoxic T cells. Dysregulation of this gene plays a role in multiple immune-mediated diseases including lupus, psoriasis and chronic inflammatory diseases. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

IL20 Gene

interleukin 20

The protein encoded by this gene is a cytokine structurally related to interleukin 10 (IL10). This cytokine has been shown to transduce its signal through signal transducer and activator of transcription 3 (STAT3) in keratinocytes. A specific receptor for this cytokine is found to be expressed in skin and upregulated dramatically in psoriatic skin, suggesting a role for this protein in epidermal function and psoriasis. [provided by RefSeq, Jul 2008]

IL25 Gene

interleukin 25

The protein encoded by this gene is a cytokine that shares sequence similarity with interleukin 17. This cytokine can induce NF-kappaB activation, and stimulate the production of interleukin 8. Both this cytokine and interleukin 17B are ligands for the cytokine receptor IL17BR. Studies of a similar gene in mice suggest that this cytokine may be a pro-inflammatory cytokine favoring the Th2-type immune response. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]

IL24 Gene

interleukin 24

This gene encodes a member of the IL10 family of cytokines. It was identified as a gene induced during terminal differentiation in melanoma cells. The protein encoded by this gene can induce apoptosis selectively in various cancer cells. Overexpression of this gene leads to elevated expression of several GADD family genes, which correlates with the induction of apoptosis. The phosphorylation of mitogen-activated protein kinase 14 (MAPK7/P38), and heat shock 27kDa protein 1 (HSPB2/HSP27) are found to be induced by this gene in melanoma cells, but not in normal immortal melanocytes. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

IL27 Gene

interleukin 27

The protein encoded by this gene is one of the subunits of a heterodimeric cytokine complex. This protein is related to interleukin 12A (IL12A). It interacts with Epstein-Barr virus induced gene 3 (EBI3), a protein similar to interleukin 12B (IL12B), and forms a complex that has been shown to drive rapid expansion of naive but not memory CD4(+) T cells. The complex is also found to synergize strongly with interleukin 12 to trigger interferon gamma (IFNG) production of naive CD4(+) T cells. The biological effects of this cytokine are mediated by the class I cytokine receptor (WSX1/TCRR). [provided by RefSeq, Jul 2008]

IL26 Gene

interleukin 26

This gene was identified by its overexpression specifically in herpesvirus samimiri-transformed T cells. The encoded protein is a member of the IL10 family of cytokines. It is a secreted protein and may function as a homodimer. This protein is thought to contribute to the transformed phenotype of T cells after infection by herpesvirus samimiri. [provided by RefSeq, Jul 2008]

IGLV1-36 Gene

immunoglobulin lambda variable 1-36

LMO7DN-IT1 Gene

LMO7DN intronic transcript 1

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

IGFBP7-AS1 Gene

IGFBP7 antisense RNA 1

IGKDEL Gene

immunoglobulin kappa deleting element or like

ERI3-IT1 Gene

ERI3 intronic transcript 1

INSL5 Gene

insulin-like 5

The protein encoded by this gene contains a classical signature of the insulin superfamily and is highly similar to relaxin 3 (RLN3/INSL7). [provided by RefSeq, Jul 2008]

INSL4 Gene

insulin-like 4 (placenta)

INSL4 encodes the insulin-like 4 protein, a member of the insulin superfamily. INSL4 encodes a precursor that undergoes post-translational cleavage to produce 3 polypeptide chains, A-C, that form tertiary structures composed of either all three chains, or just the A and B chains. Expression of INSL4 products occurs within the early placental cytotrophoblast and syncytiotrophoblast. [provided by RefSeq, Jul 2008]

INSL6 Gene

insulin-like 6

The protein encoded by this gene contains a classical signature of the insulin superfamily and is significantly similar to relaxin and relaxin-like factor. This gene is preferentially expressed in testis. Its expression in testis is restricted to interstitial cells surrounding seminiferous tubules, which suggests a role in sperm development and fertilization. [provided by RefSeq, Jul 2008]

IGHV1-38-4 Gene

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

INSL3 Gene

insulin-like 3 (Leydig cell)

This gene encodes a member of the insulin-like hormone superfamily. The encoded protein is mainly produced in gonadal tissues. Studies of the mouse counterpart suggest that this gene may be involved in the development of urogenital tract and female fertility. This protein may also act as a hormone to regulate growth and differentiation of gubernaculum, and thus mediating intra-abdominal testicular descent. Mutations in this gene may lead to cryptorchidism. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2012]

INMT Gene

indolethylamine N-methyltransferase

N-methylation of endogenous and xenobiotic compounds is a major method by which they are degraded. This gene encodes an enzyme that N-methylates indoles such as tryptamine. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream FAM188B (family with sequence similarity 188, member B) gene. [provided by RefSeq, Nov 2010]

IGIP Gene

IgA-inducing protein

IFT43 Gene

intraflagellar transport 43

This gene encodes a subunit of the intraflagellar transport complex A (IFT-A). IFT-A is a multiprotein complex that plays an important role in cilia assembly and maintenance by mediating retrograde ciliary transport. Mutations in this gene are a cause of cranioectodermal dysplasia-3 (CED3), also known as Sensenbrenner syndrome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

IFT46 Gene

intraflagellar transport 46

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

IRAK1BP1 Gene

interleukin-1 receptor-associated kinase 1 binding protein 1

IDH1-AS1 Gene

IDH1 antisense RNA 1

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)

IFITM8P Gene

interferon induced transmembrane protein 8 pseudogene

CLTC-IT1 Gene

IFI35 Gene

interferon-induced protein 35

IFI30 Gene

interferon, gamma-inducible protein 30

The protein encoded by this gene is a lysosomal thiol reductase that at low pH can reduce protein disulfide bonds. The enzyme is expressed constitutively in antigen-presenting cells and induced by gamma-interferon in other cell types. This enzyme has an important role in MHC class II-restricted antigen processing. [provided by RefSeq, Jul 2008]

IFIT1P1 Gene

interferon-induced protein with tetratricopeptide repeats 1 pseudogene 1

TRIM36-IT1 Gene

TRIM36 intronic transcript 1

AMMECR1-IT1 Gene

AMMECR1 intronic transcript 1

ISYNA1 Gene

inositol-3-phosphate synthase 1

This gene encodes an inositol-3-phosphate synthase enzyme. The encoded protein plays a critical role in the myo-inositol biosynthesis pathway by catalyzing the rate-limiting conversion of glucose 6-phosphate to myoinositol 1-phosphate. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 4. [provided by RefSeq, Nov 2011]

IFNW1 Gene

interferon, omega 1

ISX-AS1 Gene

ISX antisense RNA 1

IDI1 Gene

isopentenyl-diphosphate delta isomerase 1

IDI1 encodes a peroxisomally-localized enzyme that catalyzes the interconversion of isopentenyl diphosphate (IPP) to its highly electrophilic isomer, dimethylallyl diphosphate (DMAPP), which are the substrates for the successive reaction that results in the synthesis of farnesyl diphosphate and, ultimately, cholesterol. It has been shown in peroxisomal deficiency diseases such as Zellweger syndrome and neonatal adrenoleukodystrophy that there is reduction in IPP isomerase activity. [provided by RefSeq, Jul 2008]

IDI2 Gene

isopentenyl-diphosphate delta isomerase 2

IPMK Gene

inositol polyphosphate multikinase

This gene encodes a member of the inositol phosphokinase family. The encoded protein has 3-kinase, 5-kinase and 6-kinase activities on phosphorylated inositol substrates. The encoded protein plays an important role in the biosynthesis of inositol 1,3,4,5,6-pentakisphosphate, and has a preferred 5-kinase activity. This gene may play a role in nuclear mRNA export. Pseudogenes of this gene are located on the long arm of chromosome 13 and the short arm of chromosome 19. [provided by RefSeq, Dec 2010]

IZUMO1R Gene

IZUMO1 receptor, JUNO

IGHEP2 Gene

immunoglobulin heavy constant epsilon P2 (pseudogene)

IGHEP1 Gene

immunoglobulin heavy constant epsilon P1 (pseudogene)

IBSP Gene

integrin-binding sialoprotein

The protein encoded by this gene is a major structural protein of the bone matrix. It constitutes approximately 12% of the noncollagenous proteins in human bone and is synthesized by skeletal-associated cell types, including hypertrophic chondrocytes, osteoblasts, osteocytes, and osteoclasts. The only extraskeletal site of its synthesis is the trophoblast. This protein binds to calcium and hydroxyapatite via its acidic amino acid clusters, and mediates cell attachment through an RGD sequence that recognizes the vitronectin receptor. [provided by RefSeq, Jul 2008]

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]

INCA1 Gene

inhibitor of CDK, cyclin A1 interacting protein 1

IGHD3OR15-3B Gene

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

IGHD3OR15-3A Gene

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

TNR-IT1 Gene

TNR intronic transcript 1

INE2 Gene

inactivation escape 2 (non-protein coding)

INE1 Gene

inactivation escape 1 (non-protein coding)

X chromosome inactivation provides dosage compensation for the expression level of X-linked genes from the single X in males and the two in females. This X chromosome gene is intronless and was identified because its transcription escapes X inactivation in females. This gene does not make a protein.[provided by RefSeq, May 2010]

INSM1 Gene

insulinoma-associated 1

Insulinoma-associated 1 (INSM1) gene is intronless and encodes a protein containing both a zinc finger DNA-binding domain and a putative prohormone domain. This gene is a sensitive marker for neuroendocrine differentiation of human lung tumors. [provided by RefSeq, Jul 2008]

IP6K3 Gene

inositol hexakisphosphate kinase 3

This gene encodes a protein that belongs to the inositol phosphokinase (IPK) family. This protein is likely responsible for the conversion of inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). It may also convert 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Dec 2008]

IP6K2 Gene

inositol hexakisphosphate kinase 2

This gene encodes a protein that belongs to the inositol phosphokinase (IPK) family. This protein is likely responsible for the conversion of inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). It may also convert 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4 and affect the growth suppressive and apoptotic activities of interferon-beta in some ovarian cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

IP6K1 Gene

inositol hexakisphosphate kinase 1

This gene encodes a member of the inositol phosphokinase family. The encoded protein may be responsible for the conversion of inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). It may also convert 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jun 2011]

IGHV3OR16-7 Gene

immunoglobulin heavy variable 3/OR16-7 (pseudogene)

INPP1 Gene

inositol polyphosphate-1-phosphatase

This gene encodes the enzyme inositol polyphosphate-1-phosphatase, one of the enzymes involved in phosphatidylinositol signaling pathways. This enzyme removes the phosphate group at position 1 of the inositol ring from the polyphosphates inositol 1,4-bisphosphate and inositol 1,3,4-trisphophosphate. [provided by RefSeq, Jul 2008]

IFFO1 Gene

intermediate filament family orphan 1

This gene is a member of the intermediate filament family. Intermediate filaments are proteins which are primordial components of the cytoskeleton and nuclear envelope. The proteins encoded by the members of this gene family are evolutionarily and structurally related but have limited sequence homology, with the exception of the central rod domain. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]

IFFO2 Gene

intermediate filament family orphan 2

IFNA21 Gene

interferon, alpha 21

This gene is a member of the alpha interferon gene cluster on the short arm of chromosome 9. Interferons are cytokines produced in response to viral infection that mediate the immune response and interfere with viral replication. The encoded protein is a type I interferon and may play a specific role in the antiviral response to rubella virus. [provided by RefSeq, Sep 2011]

IGHV3-69-1 Gene

immunoglobulin heavy variable 3-69-1 (pseudogene)

IQCA1 Gene

IQ motif containing with AAA domain 1

The protein encoded by this gene is a member of the ATPases Associated with diverse cellular Activities (AAA) superfamily. Members of this superfamily, found in all organisms, participate in a large number of cellular processes and contain the ATPase module consisting of an alpha-beta-alpha core domain and the Walker A and B motifs of the P-loop NTPases. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]

IFNNP1 Gene

interferon, nu 1, pseudogene

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]

BACE2-IT1 Gene

BACE2 intronic transcript 1

IGLV5-45 Gene

immunoglobulin lambda variable 5-45

IGLV5-48 Gene

immunoglobulin lambda variable 5-48 (non-functional)

IBA57-AS1 Gene

IBA57 antisense RNA 1 (head to head)

ARHGAP22-IT1 Gene

ARHGAP22 intronic transcript 1

IARS2P1 Gene

isoleucyl-tRNA synthetase 2, mitochondrial pseudogene 1

ITPR1-AS1 Gene

ITPR1 antisense RNA 1 (head to head)

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

ILVBL Gene

ilvB (bacterial acetolactate synthase)-like

The protein encoded by this gene shares similarity with several thiamine pyrophosphate-binding proteins identified in bacteria, yeast, and plants. The highest degree of similarity is found with bacterial acetolactate synthases (AHAS), which are enzymes that catalyze the first step in branched-chain amino acid biosynthesis. [provided by RefSeq, Jul 2008]

ITGB1 Gene

integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)

Integrins are heterodimeric proteins made up of alpha and beta subunits. At least 18 alpha and 8 beta subunits have been described in mammals. Integrin family members are membrane receptors involved in cell adhesion and recognition in a variety of processes including embryogenesis, hemostasis, tissue repair, immune response and metastatic diffusion of tumor cells. This gene encodes a beta subunit. Multiple alternatively spliced transcript variants which encode different protein isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

ITGB3 Gene

integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)

The ITGB3 protein product is the integrin beta chain beta 3. Integrins are integral cell-surface proteins composed of an alpha chain and a beta chain. A given chain may combine with multiple partners resulting in different integrins. Integrin beta 3 is found along with the alpha IIb chain in platelets. Integrins are known to participate in cell adhesion as well as cell-surface mediated signalling. [provided by RefSeq, Jul 2008]

ITGB2 Gene

integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)

This gene encodes an integrin beta chain, which combines with multiple different alpha chains to form different integrin heterodimers. Integrins are integral cell-surface proteins that participate in cell adhesion as well as cell-surface mediated signalling. The encoded protein plays an important role in immune response and defects in this gene cause leukocyte adhesion deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

ITGB5 Gene

integrin, beta 5

ITGB4 Gene

integrin, beta 4

Integrins are heterodimers comprised of alpha and beta subunits, that are noncovalently associated transmembrane glycoprotein receptors. Different combinations of alpha and beta polypeptides form complexes that vary in their ligand-binding specificities. Integrins mediate cell-matrix or cell-cell adhesion, and transduced signals that regulate gene expression and cell growth. This gene encodes the integrin beta 4 subunit, a receptor for the laminins. This subunit tends to associate with alpha 6 subunit and is likely to play a pivotal role in the biology of invasive carcinoma. Mutations in this gene are associated with epidermolysis bullosa with pyloric atresia. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

ITGB7 Gene

integrin, beta 7

This gene encodes a protein that is a member of the integrin superfamily. Members of this family are adhesion receptors that function in signaling from the extracellular matrix to the cell. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. The encoded protein forms dimers with an alpha4 chain or an alphaE chain and plays a role in leukocyte adhesion. Dimerization with alpha4 forms a homing receptor for migration of lymphocytes to the intestinal mucosa and Peyer's patches. Dimerization with alphaE permits binding to the ligand epithelial cadherin, a calcium-dependent adhesion molecule. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Sep 2013]

ITGB6 Gene

integrin, beta 6

This gene encodes a protein that is a member of the integrin superfamily. Members of this family are adhesion receptors that function in signaling from the extracellular matrix to the cell. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. The encoded protein forms a dimer with an alpha v chain and this heterodimer can bind to ligands like fibronectin and transforming growth factor beta 1. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

ITGB8 Gene

integrin, beta 8

This gene is a member of the integrin beta chain family and encodes a single-pass type I membrane protein with a VWFA domain and four cysteine-rich repeats. This protein noncovalently binds to an alpha subunit to form a heterodimeric integrin complex. In general, integrin complexes mediate cell-cell and cell-extracellular matrix interactions and this complex plays a role in human airway epithelial proliferation. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]

HLCS-IT1 Gene

HLCS intronic transcript 1

IL9R Gene

interleukin 9 receptor

The protein encoded by this gene is a cytokine receptor that specifically mediates the biological effects of interleukin 9 (IL9). The functional IL9 receptor complex requires this protein as well as the interleukin 2 receptor, gamma (IL2RG), a common gamma subunit shared by the receptors of many different cytokines. The ligand binding of this receptor leads to the activation of various JAK kinases and STAT proteins, which connect to different biologic responses. This gene is located at the pseudoautosomal regions of X and Y chromosomes. Genetic studies suggested an association of this gene with the development of asthma. Multiple pseudogenes on chromosome 9, 10, 16, and 18 have been described. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]

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)

IST1 Gene

increased sodium tolerance 1 homolog (yeast)

This gene encodes a protein with MIT-interacting motifs that interacts with components of endosomal sorting complexes required for transport (ESCRT). ESCRT functions in vesicle budding, such as that which occurs during membrane abscission in cytokinesis. There is a pseudogene for this gene on chromosome 19. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012]

ITGA10 Gene

integrin, alpha 10

Integrins are integral transmembrane glycoproteins composed of noncovalently linked alpha and beta chains. They participate in cell adhesion as well as cell-surface mediated signalling. This gene encodes an integrin alpha chain and is expressed at high levels in chondrocytes, where it is transcriptionally regulated by AP-2epsilon and Ets-1. The protein encoded by this gene binds to collagen. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

ITGA11 Gene

integrin, alpha 11

This gene encodes an alpha integrin. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This protein contains an I domain, is expressed in muscle tissue, dimerizes with beta 1 integrin in vitro, and appears to bind collagen in this form. Therefore, the protein may be involved in attaching muscle tissue to the extracellular matrix. Alternative transcriptional splice variants have been found for this gene, but their biological validity is not determined. [provided by RefSeq, Jul 2008]

STX18-IT1 Gene

STX18 intronic transcript 1

IFNB1 Gene

interferon, beta 1, fibroblast

SMAD9-IT1 Gene

SMAD9 intronic transcript 1

IGKV1-13 Gene

immunoglobulin kappa variable 1-13 (gene/pseudogene)

ITPKB-IT1 Gene

ITPKB intronic transcript 1

IFNG-AS1 Gene

IFNG antisense RNA 1

IGKV3-7 Gene

immunoglobulin kappa variable 3-7 (non-functional)

THRB-IT1 Gene

THRB intronic transcript 1

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]

IL3RA Gene

interleukin 3 receptor, alpha (low affinity)

The protein encoded by this gene is an interleukin 3 specific subunit of a heterodimeric cytokine receptor. The receptor is comprised of a ligand specific alpha subunit and a signal transducing beta subunit shared by the receptors for interleukin 3 (IL3), colony stimulating factor 2 (CSF2/GM-CSF), and interleukin 5 (IL5). The binding of this protein to IL3 depends on the beta subunit. The beta subunit is activated by the ligand binding, and is required for the biological activities of IL3. This gene and the gene encoding the colony stimulating factor 2 receptor alpha chain (CSF2RA) form a cytokine receptor gene cluster in a X-Y pseudoautosomal region on chromosomes X or Y. Alternatively spliced transcript variants encoding distinct isoforms have been found. [provided by RefSeq, Jun 2012]

VWC2L-IT1 Gene

VWC2L intronic transcript 1

IGF2 Gene

insulin-like growth factor 2

This gene encodes a member of the insulin family of polypeptide growth factors, which are involved in development and growth. It is an imprinted gene, expressed only from the paternal allele, and epigenetic changes at this locus are associated with Wilms tumour, Beckwith-Wiedemann syndrome, rhabdomyosarcoma, and Silver-Russell syndrome. A read-through INS-IGF2 gene exists, whose 5' region overlaps the INS gene and the 3' region overlaps this gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]

IGF1 Gene

insulin-like growth factor 1 (somatomedin C)

The protein encoded by this gene is similar to insulin in function and structure and is a member of a family of proteins involved in mediating growth and development. The encoded protein is processed from a precursor, bound by a specific receptor, and secreted. Defects in this gene are a cause of insulin-like growth factor I deficiency. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009]

IGLV8-61 Gene

immunoglobulin lambda variable 8-61

INF2 Gene

inverted formin, FH2 and WH2 domain containing

This gene represents a member of the formin family of proteins. It is considered a diaphanous formin due to the presence of a diaphanous inhibitory domain located at the N-terminus of the encoded protein. Studies of a similar mouse protein indicate that the protein encoded by this locus may function in polymerization and depolymerization of actin filaments. Mutations at this locus have been associated with focal segmental glomerulosclerosis 5.[provided by RefSeq, Aug 2010]

IPO11-LRRC70 Gene

IPO11-LRRC70 readthrough

This locus represents naturally occurring readthrough transcription between the neighboring IPO11 (importin 11) and LRRC70 (leucine rich repeat containing 70) genes on chromosome 5. The readthrough transcript is represented as non-coding because it lacks a supported open reading frame. [provided by RefSeq, Jan 2013]

ZNF638-IT1 Gene

ZNF638 intronic transcript 1

IFRD1 Gene

interferon-related developmental regulator 1

This gene is an immediate early gene that encodes a protein related to interferon-gamma. This protein may function as a transcriptional co-activator/repressor that controls the growth and differentiation of specific cell types during embryonic development and tissue regeneration. Mutations in this gene are associated with sensory/motor neuropathy with ataxia. This gene may also be involved in modulating the pathogenesis of cystic fibrosis lung disease. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]

INTS4P1 Gene

integrator complex subunit 4 pseudogene 1

INTS4P2 Gene

integrator complex subunit 4 pseudogene 2

AGAP1-IT1 Gene

AGAP1 intronic transcript 1

IMPAD1 Gene

inositol monophosphatase domain containing 1

This gene encodes a member of the inositol monophosphatase family. The encoded protein is localized to the Golgi apparatus and catalyzes the hydrolysis of phosphoadenosine phosphate (PAP) to adenosine monophosphate (AMP). Mutations in this gene are a cause of GRAPP type chondrodysplasia with joint dislocations, and a pseudogene of this gene is located on the long arm of chromosome 1. [provided by RefSeq, Dec 2011]

IGLV2-28 Gene

immunoglobulin lambda variable 2-28 (pseudogene)

IGLV2-23 Gene

immunoglobulin lambda variable 2-23

IMMP2L Gene

IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)

This gene encodes a protein involved in processing the signal peptide sequences used to direct mitochondrial proteins to the mitochondria. The encoded protein resides in the mitochondria and is one of the necessary proteins for the catalytic activity of the mitochondrial inner membrane peptidase (IMP) complex. Two variants that encode the same protein have been described for this gene. [provided by RefSeq, Sep 2011]

IGSF6-DREV1 Gene

region containing immunoglobulin superfamily, member 6 and DREV1

NCKAP5-IT1 Gene

NCKAP5 intronic transcript 1

CACNA1C-IT1 Gene

CACNA1C intronic transcript 1

CACNA1C-IT3 Gene

CACNA1C intronic transcript 3

IL1A Gene

interleukin 1, alpha

The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine is a pleiotropic cytokine involved in various immune responses, inflammatory processes, and hematopoiesis. This cytokine is produced by monocytes and macrophages as a proprotein, which is proteolytically processed and released in response to cell injury, and thus induces apoptosis. This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. It has been suggested that the polymorphism of these genes is associated with rheumatoid arthritis and Alzheimer's disease. [provided by RefSeq, Jul 2008]

IL1B Gene

interleukin 1, beta

The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine is produced by activated macrophages as a proprotein, which is proteolytically processed to its active form by caspase 1 (CASP1/ICE). This cytokine is an important mediator of the inflammatory response, and is involved in a variety of cellular activities, including cell proliferation, differentiation, and apoptosis. The induction of cyclooxygenase-2 (PTGS2/COX2) by this cytokine in the central nervous system (CNS) is found to contribute to inflammatory pain hypersensitivity. This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. [provided by RefSeq, Jul 2008]

IL18 Gene

interleukin 18

The protein encoded by this gene is a proinflammatory cytokine that augments natural killer cell activity in spleen cells, and stimulates interferon gamma production in T-helper type I cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2011]

IL19 Gene

interleukin 19

The protein encoded by this gene is a cytokine that belongs to the IL10 cytokine subfamily. This cytokine is found to be preferentially expressed in monocytes. It can bind the IL20 receptor complex and lead to the activation of the signal transducer and activator of transcription 3 (STAT3). A similar cytokine in mouse is reported to up-regulate the expression of IL6 and TNF-alpha and induce apoptosis, which suggests a role of this cytokine in inflammatory responses. Alternatively spliced transcript variants encoding the distinct isoforms have been described. [provided by RefSeq, Jul 2008]

IL10 Gene

interleukin 10

The protein encoded by this gene is a cytokine produced primarily by monocytes and to a lesser extent by lymphocytes. This cytokine has pleiotropic effects in immunoregulation and inflammation. It down-regulates the expression of Th1 cytokines, MHC class II Ags, and costimulatory molecules on macrophages. It also enhances B cell survival, proliferation, and antibody production. This cytokine can block NF-kappa B activity, and is involved in the regulation of the JAK-STAT signaling pathway. Knockout studies in mice suggested the function of this cytokine as an essential immunoregulator in the intestinal tract. Mutations in this gene are associated with an increased susceptibility to HIV-1 infection and rheumatoid arthritis.[provided by RefSeq, May 2011]

IL11 Gene

interleukin 11

The protein encoded by this gene is a member of the gp130 family of cytokines. These cytokines drive the assembly of multisubunit receptor complexes, all of which contain at least one molecule of the transmembrane signaling receptor IL6ST (gp130). This cytokine is shown to stimulate the T-cell-dependent development of immunoglobulin-producing B cells. It is also found to support the proliferation of hematopoietic stem cells and megakaryocyte progenitor cells. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jun 2012]

IL13 Gene

interleukin 13

This gene encodes an immunoregulatory cytokine produced primarily by activated Th2 cells. This cytokine is involved in several stages of B-cell maturation and differentiation. It up-regulates CD23 and MHC class II expression, and promotes IgE isotype switching of B cells. This cytokine down-regulates macrophage activity, thereby inhibits the production of pro-inflammatory cytokines and chemokines. This cytokine is found to be critical to the pathogenesis of allergen-induced asthma but operates through mechanisms independent of IgE and eosinophils. This gene, IL3, IL5, IL4, and CSF2 form a cytokine gene cluster on chromosome 5q, with this gene particularly close to IL4. [provided by RefSeq, Jul 2008]

IL15 Gene

interleukin 15

The protein encoded by this gene is a cytokine that regulates T and natural killer cell activation and proliferation. This cytokine and interleukine 2 share many biological activities. They are found to bind common hematopoietin receptor subunits, and may compete for the same receptor, and thus negatively regulate each other's activity. The number of CD8+ memory cells is shown to be controlled by a balance between this cytokine and IL2. This cytokine induces the activation of JAK kinases, as well as the phosphorylation and activation of transcription activators STAT3, STAT5, and STAT6. Studies of the mouse counterpart suggested that this cytokine may increase the expression of apoptosis inhibitor BCL2L1/BCL-x(L), possibly through the transcription activation activity of STAT6, and thus prevent apoptosis. Alternatively spliced transcript variants of this gene have been reported. [provided by RefSeq, Feb 2011]

ISL1 Gene

ISL LIM homeobox 1

This gene encodes a member of the LIM/homeodomain family of transcription factors. The encoded protein binds to the enhancer region of the insulin gene, among others, and may play an important role in regulating insulin gene expression. The encoded protein is central to the development of pancreatic cell lineages and may also be required for motor neuron generation. Mutations in this gene have been associated with maturity-onset diabetes of the young. [provided by RefSeq, Jul 2008]

ISL2 Gene

ISL LIM homeobox 2

ISLR Gene

immunoglobulin superfamily containing leucine-rich repeat

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]

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)

IFITM5 Gene

interferon induced transmembrane protein 5

This gene encodes a membrane protein thought to play a role in bone mineralization. This gene is located on chromosome 11 in a cluster of related genes which are induced by interferon, however, this gene has not been shown to be interferon inducible. A similar gene, located in a gene cluster on mouse chromosome 7, is a member of the interferon-inducible fragilis gene family. The mouse gene encodes a transmembrane protein described as participating in germ cell competence. A mutation in the 5' UTR of this gene has been associated with osteogenesis imperfecta type V (PMID: 22863190, 22863195). [provided by RefSeq, Aug 2012]

IGAD1 Gene

immunoglobulin A (IgA) deficiency susceptibility 1

IFNL4 Gene

interferon, lambda 4 (gene/pseudogene)

INPP4B Gene

inositol polyphosphate-4-phosphatase, type II, 105kDa

INPP4B encodes the inositol polyphosphate 4-phosphatase type II, one of the enzymes involved in phosphatidylinositol signaling pathways. This enzyme removes the phosphate group at position 4 of the inositol ring from inositol 3,4-bisphosphate. There is limited data to suggest that the human type II enzyme is subject to alternative splicing, as has been established for the type I enzyme. [provided by RefSeq, Jul 2008]

IGHV7-34-1 Gene

immunoglobulin heavy variable 7-34-1 (pseudogene)

ITPK1-AS1 Gene

ITPK1 antisense RNA 1

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

GRK5-IT1 Gene

GRK5 intronic transcript 1

ATP2B2-IT1 Gene

ATP2B2 intronic transcript 1

ATP2B2-IT2 Gene

ATP2B2 intronic transcript 2

IGLVIV-53 Gene

immunoglobulin lambda variable (IV)-53 (pseudogene)

IGLVIV-59 Gene

immunoglobulin lambda variable (IV)-59 (pseudogene)

DISC1-IT1 Gene

DISC1 intronic transcript 1

IGLVIVOR22-2 Gene

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

IGLVIVOR22-1 Gene

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

IRG1 Gene

immunoresponsive 1 homolog (mouse)

IGHV4-38-2 Gene

immunoglobulin heavy variable 4-38-2

IRGQ Gene

immunity-related GTPase family, Q

IRGC Gene

immunity-related GTPase family, cinema

IRGM Gene

immunity-related GTPase family, M

This gene encodes a member of the p47 immunity-related GTPase family. The encoded protein may play a role in the innate immune response by regulating autophagy formation in response to intracellular pathogens. Polymorphisms that affect the normal expression of this gene are associated with a susceptibility to Crohn's disease and tuberculosis.[provided by RefSeq, Oct 2010]

IL1RL1 Gene

interleukin 1 receptor-like 1

The protein encoded by this gene is a member of the interleukin 1 receptor family. Studies of the similar gene in mouse suggested that this receptor can be induced by proinflammatory stimuli, and may be involved in the function of helper T cells. This gene, interleukin 1 receptor, type I (IL1R1), interleukin 1 receptor, type II (IL1R2) and interleukin 1 receptor-like 2 (IL1RL2) form a cytokine receptor gene cluster in a region mapped to chromosome 2q12. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]

IL1RL2 Gene

interleukin 1 receptor-like 2

The protein encoded by this gene is a member of the interleukin 1 receptor family. An experiment with transient gene expression demonstrated that this receptor was incapable of binding to interleukin 1 alpha and interleukin 1 beta with high affinity. This gene and four other interleukin 1 receptor family genes, including interleukin 1 receptor, type I (IL1R1), interleukin 1 receptor, type II (IL1R2), interleukin 1 receptor-like 1 (IL1RL1), and interleukin 18 receptor 1 (IL18R1), form a cytokine receptor gene cluster in a region mapped to chromosome 2q12. [provided by RefSeq, Jul 2008]

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

ITSN1 Gene

intersectin 1 (SH3 domain protein)

The protein encoded by this gene is a cytoplasmic membrane-associated protein that indirectly coordinates endocytic membrane traffic with the actin assembly machinery. In addition, the encoded protein may regulate the formation of clathrin-coated vesicles and could be involved in synaptic vesicle recycling. This protein has been shown to interact with dynamin, CDC42, SNAP23, SNAP25, SPIN90, EPS15, EPN1, EPN2, and STN2. Multiple transcript variants encoding different isoforms have been found for this gene, but the full-length nature of only two of them have been characterized so far. [provided by RefSeq, Jul 2008]

ITSN2 Gene

intersectin 2

This gene encodes a cytoplasmic protein which contains SH3 domains. This protein is a member of a family of proteins involved in clathrin-mediated endocytosis. Intersectin 2 is thought to regulate the formation of clathrin-coated vesicles and also may function in the induction of T cell antigen receptor (TCR) endocytosis. Alternatively spliced transcript variants have been found for this gene that encode three distinct isoforms. Additional variants have been found but their full length nature has not been determined. [provided by RefSeq, Jul 2008]

IGLV7-35 Gene

immunoglobulin lambda variable 7-35 (pseudogene)

MAGI2-IT1 Gene

MAGI2 intronic transcript 1

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]

ATG10-IT1 Gene

ATG10 intronic transcript 1

ITGA9-AS1 Gene

ITGA9 antisense RNA 1

ISY1 Gene

ISY1 splicing factor homolog (S. cerevisiae)

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)

IL20RA Gene

interleukin 20 receptor, alpha

This gene encodes a member of the type II cytokine receptor family. The encoded protein is a subunit of the receptor for interleukin 20, a cytokine that may be involved in epidermal function. The interleukin 20 receptor is a heterodimeric complex consisting of the encoded protein and interleukin 20 receptor beta. This gene and interleukin 20 receptor beta are highly expressed in skin, and are upregulated in psoriasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

IL20RB Gene

interleukin 20 receptor beta

IL20RB and IL20RA (MIM 605620) form a heterodimeric receptor for interleukin-20 (IL20; MIM 605619) (Blumberg et al., 2001 [PubMed 11163236]).[supplied by OMIM, Feb 2009]

INHA Gene

inhibin, alpha

This gene encodes the alpha subunit of inhibins A and B protein complexes. These complexes negatively regulate follicle stimulating hormone secretion from the pituitary gland. Inhibins have also been implicated in regulating numerous cellular processes including cell proliferation, apoptosis, immune response and hormone secretion.[provided by RefSeq, Dec 2010]

ITM2C Gene

integral membrane protein 2C

ITM2A Gene

integral membrane protein 2A

This gene encodes a type II membrane protein that belongs to the ITM2 family. Studies in mouse suggest that it may be involved in osteo- and chondrogenic differentiation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]

IGFALS Gene

insulin-like growth factor binding protein, acid labile subunit

The protein encoded by this gene is a serum protein that binds insulin-like growth factors, increasing their half-life and their vascular localization. Production of the encoded protein, which contains twenty leucine-rich repeats, is stimulated by growth hormone. Defects in this gene are a cause of acid-labile subunit deficiency, which maifests itself in a delayed and slow puberty. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

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)

IGAN2 Gene

IgA nephropathy, susceptibility to, 2

IL21R Gene

interleukin 21 receptor

The protein encoded by this gene is a cytokine receptor for interleukin 21 (IL21). It belongs to the type I cytokine receptors, and has been shown to form a heterodimeric receptor complex with the common gamma-chain, a receptor subunit also shared by the receptors for interleukin 2, 4, 7, 9, and 15. This receptor transduces the growth promoting signal of IL21, and is important for the proliferation and differentiation of T cells, B cells, and natural killer (NK) cells. The ligand binding of this receptor leads to the activation of multiple downstream signaling molecules, including JAK1, JAK3, STAT1, and STAT3. Knockout studies of a similar gene in mouse suggest a role for this gene in regulating immunoglobulin production. Three alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2010]

ITM2B Gene

integral membrane protein 2B

Amyloid precursor proteins are processed by beta-secretase and gamma-secretase to produce beta-amyloid peptides which form the characteristic plaques of Alzheimer disease. This gene encodes a transmembrane protein which is processed at the C-terminus by furin or furin-like proteases to produce a small secreted peptide which inhibits the deposition of beta-amyloid. Mutations which result in extension of the C-terminal end of the encoded protein, thereby increasing the size of the secreted peptide, are associated with two neurogenerative diseases, familial British dementia and familial Danish dementia. [provided by RefSeq, Oct 2009]

INTLQ2 Gene

Intelligence QTL3

IQCA1L Gene

IQ motif containing with AAA domain 1 like

IGHVII-30-1 Gene

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

RUNX1-IT1 Gene

RUNX1 intronic transcript 1

IER3IP1 Gene

immediate early response 3 interacting protein 1

This gene encodes a small protein that is localized to the endoplasmic reticulum (ER) and may play a role in the ER stress response by mediating cell differentiation and apoptosis. Transcription of this gene is regulated by tumor necrosis factor alpha and specificity protein 1 (Sp1). Mutations in this gene may play a role in microcephaly, epilepsy, and diabetes syndrome (MEDS), and a pseudogene of this gene is located on the long arm of chromosome 12. [provided by RefSeq, Dec 2011]

BIN3-IT1 Gene

BIN3 intronic transcript 1

IGHV2-70 Gene

immunoglobulin heavy variable 2-70

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]

ICAM3 Gene

intercellular adhesion molecule 3

The protein encoded by this gene is a member of the intercellular adhesion molecule (ICAM) family. All ICAM proteins are type I transmembrane glycoproteins, contain 2-9 immunoglobulin-like C2-type domains, and bind to the leukocyte adhesion LFA-1 protein. This protein is constitutively and abundantly expressed by all leucocytes and may be the most important ligand for LFA-1 in the initiation of the immune response. It functions not only as an adhesion molecule, but also as a potent signalling molecule. [provided by RefSeq, Jul 2008]

IFI44 Gene

interferon-induced protein 44

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)

IPO5P1 Gene

importin 5 pseudogene 1

ISCA1P6 Gene

iron-sulfur cluster assembly 1 pseudogene 6

ISCA1P5 Gene

iron-sulfur cluster assembly 1 pseudogene 5

ISCA1P3 Gene

iron-sulfur cluster assembly 1 pseudogene 3

ISCA1P1 Gene

iron-sulfur cluster assembly 1 pseudogene 1

ICE2P2 Gene

interactor of little elongation complex ELL subunit 2 pseudogene 2

ICE2P1 Gene

interactor of little elongation complex ELL subunit 2 pseudogene 1

IGHVII-26-2 Gene

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

IGKV2OR2-10 Gene

immunoglobulin kappa variable 2/OR2-10 (pseudogene)

IL22 Gene

interleukin 22

TSSC1-IT1 Gene

TSSC1 intronic transcript 1

ISCUP1 Gene

iron-sulfur cluster assembly enzyme pseudogene 1

IMPA1P Gene

inositol(myo)-1(or 4)-monophosphatase 1 pseudogene

IGKV1ORY-1 Gene

immunoglobulin kappa variable 1/ORY-1 (pseudogene)

IKBKG Gene

inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma

This gene encodes the regulatory subunit of the inhibitor of kappaB kinase (IKK) complex, which activates NF-kappaB resulting in activation of genes involved in inflammation, immunity, cell survival, and other pathways. Mutations in this gene result in incontinentia pigmenti, hypohidrotic ectodermal dysplasia, and several other types of immunodeficiencies. Multiple transcript variants encoding different isoforms have been found for this gene. A pseudogene highly similar to this locus is located in an adjacent region of the X chromosome. [provided by RefSeq, Aug 2011]

MLIP-IT1 Gene

MLIP intronic transcript 1

IGHV3-43D Gene

immunoglobulin heavy variable 3-43D

IGHVIII-44 Gene

immunoglobulin heavy variable (III)-44 (pseudogene)

IGFL1 Gene

IGF-like family member 1

IGFL1 belongs to the insulin-like growth factor (IGF; see MIM 147440) family of signaling molecules that play critical roles in cellular energy metabolism and in growth and development, especially prenatal growth (Emtage et al., 2006 [PubMed 16890402]).[supplied by OMIM, Mar 2008]

IGHV3-11 Gene

immunoglobulin heavy variable 3-11 (gene/pseudogene)

IGLV10-54 Gene

immunoglobulin lambda variable 10-54

IBA57 Gene

IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)

IGFBP2 Gene

insulin-like growth factor binding protein 2, 36kDa

IGFBP3 Gene

insulin-like growth factor binding protein 3

This gene is a member of the insulin-like growth factor binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. The protein forms a ternary complex with insulin-like growth factor acid-labile subunit (IGFALS) and either insulin-like growth factor (IGF) I or II. In this form, it circulates in the plasma, prolonging the half-life of IGFs and altering their interaction with cell surface receptors. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

IGFBP1 Gene

insulin-like growth factor binding protein 1

This gene is a member of the insulin-like growth factor binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. The protein binds both insulin-like growth factors (IGFs) I and II and circulates in the plasma. Binding of this protein prolongs the half-life of the IGFs and alters their interaction with cell surface receptors. [provided by RefSeq, Jul 2008]

IGFBP7 Gene

insulin-like growth factor binding protein 7

This gene encodes a member of the insulin-like growth factor (IGF)-binding protein (IGFBP) family. IGFBPs bind IGFs with high affinity, and regulate IGF availability in body fluids and tissues and modulate IGF binding to its receptors. This protein binds IGF-I and IGF-II with relatively low affinity, and belongs to a subfamily of low-affinity IGFBPs. It also stimulates prostacyclin production and cell adhesion. Alternatively spliced transcript variants encoding different isoforms have been described for this gene, and one variant has been associated with retinal arterial macroaneurysm (PMID:21835307). [provided by RefSeq, Dec 2011]

IGFBP4 Gene

insulin-like growth factor binding protein 4

This gene is a member of the insulin-like growth factor binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. The protein binds both insulin-like growth factors (IGFs) I and II and circulates in the plasma in both glycosylated and non-glycosylated forms. Binding of this protein prolongs the half-life of the IGFs and alters their interaction with cell surface receptors. [provided by RefSeq, Jul 2008]

IGFBP5 Gene

insulin-like growth factor binding protein 5

IPO9-AS1 Gene

IPO9 antisense RNA 1

IGHVII-31-1 Gene

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

IL9RP1 Gene

interleukin 9 receptor pseudogene 1

IL9RP2 Gene

interleukin 9 receptor pseudogene 2

IL9RP3 Gene

interleukin 9 receptor pseudogene 3

IGLV1-51 Gene

immunoglobulin lambda variable 1-51

IGLV1-50 Gene

immunoglobulin lambda variable 1-50 (non-functional)

IL4R Gene

interleukin 4 receptor

This gene encodes the alpha chain of the interleukin-4 receptor, a type I transmembrane protein that can bind interleukin 4 and interleukin 13 to regulate IgE production. The encoded protein also can bind interleukin 4 to promote differentiation of Th2 cells. A soluble form of the encoded protein can be produced by proteolysis of the membrane-bound protein, and this soluble form can inhibit IL4-mediated cell proliferation and IL5 upregulation by T-cells. Allelic variations in this gene have been associated with atopy, a condition that can manifest itself as allergic rhinitis, sinusitus, asthma, or eczema. Polymorphisms in this gene are also associated with resistance to human immunodeficiency virus type-1 infection. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]

IGHV7-40 Gene

immunoglobulin heavy variable 7-40 (pseudogene)

IGJP1 Gene

immunoglobulin J polypeptide pseudogene 1

ICMT Gene

isoprenylcysteine carboxyl methyltransferase

This gene encodes the third of three enzymes that posttranslationally modify isoprenylated C-terminal cysteine residues in certain proteins and target those proteins to the cell membrane. This enzyme localizes to the endoplasmic reticulum. Alternative splicing may result in other transcript variants, but the biological validity of those transcripts has not been determined. [provided by RefSeq, Jul 2008]

ITGBL1 Gene

integrin, beta-like 1 (with EGF-like repeat domains)

This gene encodes a beta integrin-related protein that is a member of the EGF-like protein family. The encoded protein contains integrin-like cysteine-rich repeats. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]

IL17REL Gene

interleukin 17 receptor E-like

INSC Gene

inscuteable homolog (Drosophila)

In Drosophila, neuroblasts divide asymmetrically into another neuroblast at the apical side and a smaller ganglion mother cell on the basal side. Cell polarization is precisely regulated by 2 apically localized multiprotein signaling complexes that are tethered by Inscuteable, which regulates their apical localization (Izaki et al., 2006 [PubMed 16458856]).[supplied by OMIM, Mar 2008]

INSR Gene

insulin receptor

After removal of the precursor signal peptide, the insulin receptor precursor is post-translationally cleaved into two chains (alpha and beta) that are covalently linked. Binding of insulin to the insulin receptor (INSR) stimulates glucose uptake. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

IL20RB-AS1 Gene

IL20RB antisense RNA 1

IPP Gene

intracisternal A particle-promoted polypeptide

The protein encoded by this gene is a member of the kelch family of proteins, which is characterized by a 50 amino acid repeat which interacts with actin. Transcript variants have been described but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]

NAV2-IT1 Gene

NAV2 intronic transcript 1

IMPACT Gene

impact RWD domain protein

IL13RA2 Gene

interleukin 13 receptor, alpha 2

The protein encoded by this gene is closely related to Il13RA1, a subuint of the interleukin 13 receptor complex. This protein binds IL13 with high affinity, but lacks cytoplasmic domain, and does not appear to function as a signal mediator. It is reported to play a role in the internalization of IL13. [provided by RefSeq, Jul 2008]

IL13RA1 Gene

interleukin 13 receptor, alpha 1

The protein encoded by this gene is a subunit of the interleukin 13 receptor. This subunit forms a receptor complex with IL4 receptor alpha, a subunit shared by IL13 and IL4 receptors. This subunit serves as a primary IL13-binding subunit of the IL13 receptor, and may also be a component of IL4 receptors. This protein has been shown to bind tyrosine kinase TYK2, and thus may mediate the signaling processes that lead to the activation of JAK1, STAT3 and STAT6 induced by IL13 and IL4. [provided by RefSeq, Jul 2008]

CRHR1-IT1 Gene

CRHR1 intronic transcript 1

IGHD3-22 Gene

immunoglobulin heavy diversity 3-22

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)

IQCH-AS1 Gene

IQCH antisense RNA 1

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

HEXDC-IT1 Gene

HEXDC intronic transcript 1

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

IDS2 Gene

uncharacterized LOC105373366

IGHV4-39 Gene

immunoglobulin heavy variable 4-39

IGHV4-31 Gene

immunoglobulin heavy variable 4-31

IREB2 Gene

iron-responsive element binding protein 2

WARS2-IT1 Gene

WARS2 intronic transcript 1

IL12B Gene

interleukin 12B

This gene encodes a subunit of interleukin 12, a cytokine that acts on T and natural killer cells, and has a broad array of biological activities. Interleukin 12 is a disulfide-linked heterodimer composed of the 40 kD cytokine receptor like subunit encoded by this gene, and a 35 kD subunit encoded by IL12A. This cytokine is expressed by activated macrophages that serve as an essential inducer of Th1 cells development. This cytokine has been found to be important for sustaining a sufficient number of memory/effector Th1 cells to mediate long-term protection to an intracellular pathogen. Overexpression of this gene was observed in the central nervous system of patients with multiple sclerosis (MS), suggesting a role of this cytokine in the pathogenesis of the disease. The promoter polymorphism of this gene has been reported to be associated with the severity of atopic and non-atopic asthma in children. [provided by RefSeq, Jul 2008]

IL12A Gene

interleukin 12A

This gene encodes a subunit of a cytokine that acts on T and natural killer cells, and has a broad array of biological activities. The cytokine is a disulfide-linked heterodimer composed of the 35-kD subunit encoded by this gene, and a 40-kD subunit that is a member of the cytokine receptor family. This cytokine is required for the T-cell-independent induction of interferon (IFN)-gamma, and is important for the differentiation of both Th1 and Th2 cells. The responses of lymphocytes to this cytokine are mediated by the activator of transcription protein STAT4. Nitric oxide synthase 2A (NOS2A/NOS2) is found to be required for the signaling process of this cytokine in innate immunity. [provided by RefSeq, Jul 2008]

INDX Gene

Immunoneurologic syndrome X-linked, of Wood, Black, and Norbury

IGHJ3P Gene

immunoglobulin heavy joining 3P (pseudogene)

IGKC Gene

immunoglobulin kappa constant

MAGI1-IT1 Gene

MAGI1 intronic transcript 1

IFIH1 Gene

interferon induced with helicase C domain 1

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein that is upregulated in response to treatment with beta-interferon and a protein kinase C-activating compound, mezerein. Irreversible reprogramming of melanomas can be achieved by treatment with both these agents; treatment with either agent alone only achieves reversible differentiation. Genetic variation in this gene is associated with diabetes mellitus insulin-dependent type 19. [provided by RefSeq, Jul 2012]

SOS1-IT1 Gene

SOS1 intronic transcript 1

ITIH4-AS1 Gene

ITIH4 antisense RNA 1

ITGB1P1 Gene

integrin beta 1 pseudogene 1

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)

IER5L Gene

immediate early response 5-like

IHH Gene

indian hedgehog

This gene encodes a member of the hedgehog family of secreted signaling molecules. Hedgehog proteins are essential regulators of a variety of developmental processes including growth, patterning and morphogenesis. The encoded protein specifically plays a role in bone growth an differentiation. Mutations in this gene are the cause of brachydactyly type A1 which is characterized by shortening or malformation of the phalanges. Mutations in this gene are also the cause of acrocapitofemoral dysplasia. [provided by RefSeq, Feb 2010]

IL1RAP Gene

interleukin 1 receptor accessory protein

Interleukin 1 induces synthesis of acute phase and proinflammatory proteins during infection, tissue damage, or stress, by forming a complex at the cell membrane with an interleukin 1 receptor and an accessory protein. This gene encodes the interleukin 1 receptor accessory protein. The protein is a necessary part of the interleukin 1 receptor complex which initiates signalling events that result in the activation of interleukin 1-responsive genes. Alternative splicing of this gene results in two transcript variants encoding two different isoforms, one membrane-bound and one soluble. The ratio of soluble to membrane-bound forms increases during acute-phase induction or stress. [provided by RefSeq, Nov 2009]

IGHV2-26 Gene

immunoglobulin heavy variable 2-26

TCF7L1-IT1 Gene

TCF7L1 intronic transcript 1

IGKV1OR15-118 Gene

immunoglobulin kappa variable 1/OR15-118 (pseudogene)

ITLN2 Gene

intelectin 2

ITLN1 Gene

intelectin 1 (galactofuranose binding)

IMPDH1 Gene

IMP (inosine 5'-monophosphate) dehydrogenase 1

The protein encoded by this gene acts as a homotetramer to regulate cell growth. The encoded protein is an enzyme that catalyzes the synthesis of xanthine monophosphate (XMP) from inosine-5'-monophosphate (IMP). This is the rate-limiting step in the de novo synthesis of guanine nucleotides. Defects in this gene are a cause of retinitis pigmentosa type 10 (RP10). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

INCENP Gene

inner centromere protein antigens 135/155kDa

In mammalian cells, 2 broad groups of centromere-interacting proteins have been described: constitutively binding centromere proteins and 'passenger,' or transiently interacting, proteins (reviewed by Choo, 1997). The constitutive proteins include CENPA (centromere protein A; MIM 117139), CENPB (MIM 117140), CENPC1 (MIM 117141), and CENPD (MIM 117142). The term 'passenger proteins' encompasses a broad collection of proteins that localize to the centromere during specific stages of the cell cycle (Earnshaw and Mackay, 1994 [PubMed 8088460]). These include CENPE (MIM 117143); MCAK (MIM 604538); KID (MIM 603213); cytoplasmic dynein (e.g., MIM 600112); CliPs (e.g., MIM 179838); and CENPF/mitosin (MIM 600236). The inner centromere proteins (INCENPs) (Earnshaw and Cooke, 1991 [PubMed 1860899]), the initial members of the passenger protein group, display a broad localization along chromosomes in the early stages of mitosis but gradually become concentrated at centromeres as the cell cycle progresses into mid-metaphase. During telophase, the proteins are located within the midbody in the intercellular bridge, where they are discarded after cytokinesis (Cutts et al., 1999 [PubMed 10369859]).[supplied by OMIM, Mar 2008]

IGHD4-17 Gene

immunoglobulin heavy diversity 4-17

IGHD4-11 Gene

immunoglobulin heavy diversity 4-11 (non-functional)

INS-IGF2 Gene

INS-IGF2 readthrough

This locus includes two alternatively spliced read-through transcript variants which align to the INS gene in the 5' region and to the IGF2 gene in the 3' region. One transcript is predicted to encode a protein which shares the N-terminus with the INS protein but has a distinct and longer C-terminus, whereas the other transcript is a candidate for nonsense-mediated decay (NMD). The transcripts are imprinted and are paternally expressed in the limb and eye. [provided by RefSeq, Jul 2008]

IFI16 Gene

interferon, gamma-inducible protein 16

This gene encodes a member of the HIN-200 (hematopoietic interferon-inducible nuclear antigens with 200 amino acid repeats) family of cytokines. The encoded protein contains domains involved in DNA binding, transcriptional regulation, and protein-protein interactions. The protein localizes to the nucleoplasm and nucleoli, and interacts with p53 and retinoblastoma-1. It modulates p53 function, and inhibits cell growth in the Ras/Raf signaling pathway. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2011]

IGHD2OR15-2B Gene

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

IGHD2OR15-2A Gene

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

IPOX Gene

Intestinal pseudoobstruction, neuronal, primary idiopathic

IGKV3D-7 Gene

immunoglobulin kappa variable 3D-7

IPO8 Gene

importin 8

The importin-alpha/beta complex and the GTPase Ran mediate nuclear import of proteins with a classical nuclear localization signal. The protein encoded by this gene is a member of a class of approximately 20 potential Ran targets that share a sequence motif related to the Ran-binding site of importin-beta. This protein binds to the nuclear pore complex and, along with RanGTP and RANBP1, inhibits the GAP stimulation of the Ran GTPase. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]

IPO9 Gene

importin 9

IPO7 Gene

importin 7

The importin-alpha/beta complex and the GTPase Ran mediate nuclear import of proteins with a classical nuclear localization signal. The protein encoded by this gene is a member of a class of approximately 20 potential Ran targets that share a sequence motif related to the Ran-binding site of importin-beta. Similar to importin-beta, this protein prevents the activation of Ran's GTPase by RanGAP1 and inhibits nucleotide exchange on RanGTP, and also binds directly to nuclear pore complexes where it competes for binding sites with importin-beta and transportin. This protein has a Ran-dependent transport cycle and it can cross the nuclear envelope rapidly and in both directions. At least four importin beta-like transport receptors, namely importin beta itself, transportin, RanBP5 and RanBP7, directly bind and import ribosomal proteins. [provided by RefSeq, Jul 2008]

IPO4 Gene

importin 4

IPO5 Gene

importin 5

Nucleocytoplasmic transport, a signal- and energy-dependent process, takes place through nuclear pore complexes embedded in the nuclear envelope. The import of proteins containing a nuclear localization signal (NLS) requires the NLS import receptor, a heterodimer of importin alpha and beta subunits also known as karyopherins. Importin alpha binds the NLS-containing cargo in the cytoplasm and importin beta docks the complex at the cytoplasmic side of the nuclear pore complex. In the presence of nucleoside triphosphates and the small GTP binding protein Ran, the complex moves into the nuclear pore complex and the importin subunits dissociate. Importin alpha enters the nucleoplasm with its passenger protein and importin beta remains at the pore. Interactions between importin beta and the FG repeats of nucleoporins are essential in translocation through the pore complex. The protein encoded by this gene is a member of the importin beta family. [provided by RefSeq, Jul 2008]

IGKV6D-41 Gene

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

IRF2BP2 Gene

interferon regulatory factor 2 binding protein 2

This gene encodes an interferon regulatory factor-2 (IRF2) binding protein that interacts with the C-terminal transcriptional repression domain of IRF2. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]

IRF2BP1 Gene

interferon regulatory factor 2 binding protein 1

IRF2BPL Gene

interferon regulatory factor 2 binding protein-like

This gene encodes a transcription factor that may play a role in regulating female reproductive function. [provided by RefSeq, Jun 2012]

IL36RN Gene

interleukin 36 receptor antagonist

The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine was shown to specifically inhibit the activation of NF-kappaB induced by interleukin 1 family, member 6 (IL1F6). This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. Two alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq, Jul 2008]

IGHV4OR15-8 Gene

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

HS1BP3-IT1 Gene

HS1BP3 intronic transcript 1

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]

ID2B Gene

inhibitor of DNA binding 2B, dominant negative helix-loop-helix protein (pseudogene)

MAPT-IT1 Gene

MAPT intronic transcript 1

ITPKA Gene

inositol-trisphosphate 3-kinase A

Regulates inositol phosphate metabolism by phosphorylation of second messenger inositol 1,4,5-trisphosphate to Ins(1,3,4,5)P4. The activity of the inositol 1,4,5-trisphosphate 3-kinase is responsible for regulating the levels of a large number of inositol polyphosphates that are important in cellular signaling. Both calcium/calmodulin and protein phosphorylation mechanisms control its activity. It is also a substrate for the cyclic AMP-dependent protein kinase, calcium/calmodulin- dependent protein kinase II, and protein kinase C in vitro.[provided by RefSeq, Apr 2011]

ITPKC Gene

inositol-trisphosphate 3-kinase C

This gene encodes a member of the inositol 1,4,5-trisphosphate [Ins(1,4,5)P(3)] 3-kinase family of enzymes that catalyze the phosphorylation of inositol 1,4,5-trisphosphate to 1,3,4,5-tetrakisphosphate. The encoded protein is localized to the nucleus and cytoplasm and has both nuclear import and nuclear export activity. Single nucleotide polymorphisms in this gene are associated with Kawasaki disease.[provided by RefSeq, Sep 2009]

ITPKB Gene

inositol-trisphosphate 3-kinase B

The protein encoded by this protein regulates inositol phosphate metabolism by phosphorylation of second messenger inositol 1,4,5-trisphosphate to Ins(1,3,4,5)P4. The activity of this encoded protein is responsible for regulating the levels of a large number of inositol polyphosphates that are important in cellular signaling. Both calcium/calmodulin and protein phosphorylation mechanisms control its activity. [provided by RefSeq, Jul 2008]

ITPK1 Gene

inositol-tetrakisphosphate 1-kinase

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)

IDI2-AS1 Gene

IDI2 antisense RNA 1

IGKV3OR2-5 Gene

immunoglobulin kappa variable 3/OR2-5 (pseudogene)

IL6RP1 Gene

interleukin 6 receptor pseudogene 1

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)

IGHVII-43-1 Gene

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

IQCJ-SCHIP1-AS1 Gene

IQCJ-SCHIP1 readthrough antisense RNA 1

IGDCC3 Gene

immunoglobulin superfamily, DCC subclass, member 3

IGDCC4 Gene

immunoglobulin superfamily, DCC subclass, member 4

IL10RA Gene

interleukin 10 receptor, alpha

The protein encoded by this gene is a receptor for interleukin 10. This protein is structurally related to interferon receptors. It has been shown to mediate the immunosuppressive signal of interleukin 10, and thus inhibits the synthesis of proinflammatory cytokines. This receptor is reported to promote survival of progenitor myeloid cells through the insulin receptor substrate-2/PI 3-kinase/AKT pathway. Activation of this receptor leads to tyrosine phosphorylation of JAK1 and TYK2 kinases. Two transcript variants, one protein-coding and the other not protein-coding, have been found for this gene. [provided by RefSeq, Jan 2009]

IL10RB Gene

interleukin 10 receptor, beta

The protein encoded by this gene belongs to the cytokine receptor family. It is an accessory chain essential for the active interleukin 10 receptor complex. Coexpression of this and IL10RA proteins has been shown to be required for IL10-induced signal transduction. This gene and three other interferon receptor genes, IFAR2, IFNAR1, and IFNGR2, form a class II cytokine receptor gene cluster located in a small region on chromosome 21. [provided by RefSeq, Jul 2008]

ARHGAP26-IT1 Gene

ARHGAP26 intronic transcript 1

IPPK Gene

inositol 1,3,4,5,6-pentakisphosphate 2-kinase

The protein encoded by this gene is a kinase that phosphorylates position 2 of inositol-1,3,4,5,6-pentakisphosphate to form inositol-1,2,3,4,5,6-hexakisphosphate (InsP6). InsP6 has a variety of functions, including stimulation of DNA repair, endocytosis, and mRNA export. [provided by RefSeq, Nov 2010]

IS2 Gene

Scoliosis, idiopathic 2

IS1 Gene

Adolescent idiopathic scoliosis

INVS Gene

inversin

This gene encodes a protein containing multiple ankyrin domains and two IQ calmodulin-binding domains. The encoded protein may function in renal tubular development and function, and in left-right axis determination. This protein interacts with nephrocystin and infers a connection between primary cilia function and left-right axis determination. A similar protein in mice interacts with calmodulin. Mutations in this gene have been associated with nephronophthisis type 2. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2012]

IGHV4-55 Gene

immunoglobulin heavy variable 4-55 (pseudogene)

IFNK Gene

interferon, kappa

This gene encodes a member of the type I interferon family. Type I interferons are a group of related glycoproteins that play an important role in host defenses against viral infections. This protein is expressed in keratinocytes and the gene is found on chromosome 9, adjacent to the type I interferon cluster. [provided by RefSeq, Jul 2008]

IFNG Gene

interferon, gamma

This gene encodes a member of the type II interferon family. The protein encoded is a soluble cytokine with antiviral, immunoregulatory and anti-tumor properties and is a potent activator of macrophages. Mutations in this gene are associated with aplastic anemia.[provided by RefSeq, Nov 2009]

IFNE Gene

interferon, epsilon

IGKV1-27 Gene

immunoglobulin kappa variable 1-27

IGKV1-22 Gene

immunoglobulin kappa variable 1-22 (pseudogene)

IFNR Gene

interferon production regulator

TSPAN9-IT1 Gene

TSPAN9 intronic transcript 1

DSCAM-IT1 Gene

DSCAM intronic transcript 1

ISX Gene

intestine-specific homeobox

Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This gene is a member of the RAXLX homeobox gene family. [provided by RefSeq, Jul 2008]

IS5 Gene

scoliosis, idiopathic, susceptibility to, 5

IS4 Gene

Scoliosis, idiopathic, susceptibility to, 4

INPP5A Gene

inositol polyphosphate-5-phosphatase, 40kDa

The protein encoded by this gene is a membrane-associated type I inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase. InsP3 5-phosphatases hydrolyze Ins(1,4,5)P3, which mobilizes intracellular calcium and acts as a second messenger mediating cell responses to various stimulation. [provided by RefSeq, Jul 2008]

INPP5B Gene

inositol polyphosphate-5-phosphatase, 75kDa

This gene encodes a member of a family of inositol polyphosphate-5-phosphatases. These enzymes function in the regulation of calcium signaling by inactivating inositol phosphates. The encoded protein is localized to the cytosol and mitochondria, and associates with membranes through an isoprenyl modification near the C-terminus. Alternatively spliced transcript variants of this gene have been described. [provided by RefSeq, Jul 2014]

INPP5D Gene

inositol polyphosphate-5-phosphatase, 145kDa

This gene is a member of the inositol polyphosphate-5-phosphatase (INPP5) family and encodes a protein with an N-terminal SH2 domain, an inositol phosphatase domain, and two C-terminal protein interaction domains. Expression of this protein is restricted to hematopoietic cells where its movement from the cytosol to the plasma membrane is mediated by tyrosine phosphorylation. At the plasma membrane, the protein hydrolyzes the 5' phosphate from phosphatidylinositol (3,4,5)-trisphosphate and inositol-1,3,4,5-tetrakisphosphate, thereby affecting multiple signaling pathways. The protein is also partly localized to the nucleus, where it may be involved in nuclear inositol phosphate signaling processes. Overall, the protein functions as a negative regulator of myeloid cell proliferation and survival. Mutations in this gene are associated with defects and cancers of the immune system. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2014]

INPP5E Gene

inositol polyphosphate-5-phosphatase, 72 kDa

The protein encoded by this gene is an inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase. InsP3 5-phosphatases hydrolyze Ins(1,4,5)P3, which mobilizes intracellular calcium and acts as a second messenger mediating cell responses to various stimulation. Studies of the mouse counterpart suggest that this protein may hydrolyze phosphatidylinositol 3,4,5-trisphosphate and phosphatidylinositol 3,5-bisphosphate on the cytoplasmic Golgi membrane and thereby regulate Golgi-vesicular trafficking. Mutations in this gene cause Joubert syndrome; a clinically and genetically heterogenous group of disorders characterized by midbrain-hindbrain malformation and various associated ciliopathies that include retinal dystrophy, nephronophthisis, liver fibrosis and polydactyly.[provided by RefSeq, Feb 2011]

INPP5F Gene

inositol polyphosphate-5-phosphatase F

The protein encoded by this gene is an inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase and contains a Sac domain. The activity of this protein is specific for phosphatidylinositol 4,5-bisphosphate and phosphatidylinositol 3,4,5-trisphosphate. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]

INPP5J Gene

inositol polyphosphate-5-phosphatase J

INPP5K Gene

inositol polyphosphate-5-phosphatase K

This gene encodes a protein with 5-phosphatase activity toward polyphosphate inositol. The protein localizes to the cytosol in regions lacking actin stress fibers. It is thought that this protein may negatively regulate the actin cytoskeleton. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]

KCNQ5-IT1 Gene

KCNQ5 intronic transcript 1

IGHVIV-44-1 Gene

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

EPN2-IT1 Gene

EPN2 intronic transcript 1

IFITM10 Gene

interferon induced transmembrane protein 10

SMIM2-IT1 Gene

SMIM2 intronic transcript 1

IL37 Gene

interleukin 37

The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine can bind to, and may be a ligand for interleukin 18 receptor (IL18R1/IL-1Rrp). This cytokine also binds to interleukin 18 binding protein (IL18BP), an inhibitory binding protein of interleukin 18 (IL18), and subsequently forms a complex with IL18 receptor beta subunit, and through which it inhibits the activity of IL18. This gene along with eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. Five alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

IL34 Gene

interleukin 34

Interleukin-34 is a cytokine that promotes the differentiation and viability of monocytes and macrophages through the colony-stimulating factor-1 receptor (CSF1R; MIM 164770) (Lin et al., 2008 [PubMed 18467591]).[supplied by OMIM, May 2008]

IL32 Gene

interleukin 32

This gene encodes a member of the cytokine family. The protein contains a tyrosine sulfation site, 3 potential N-myristoylation sites, multiple putative phosphorylation sites, and an RGD cell-attachment sequence. Expression of this protein is increased after the activation of T-cells by mitogens or the activation of NK cells by IL-2. This protein induces the production of TNFalpha from macrophage cells. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

IL33 Gene

interleukin 33

IL33 (MIM 608678) is a member of the IL1 (see MIM 147760) family that potently drives production of T helper-2 (Th2)-associated cytokines (e.g., IL4; MIM 147780). IL33 is a ligand for IL33R (IL1RL1; MIM 601203), an IL1 family receptor that is selectively expressed on Th2 cells and mast cells (summary by Yagami et al., 2010 [PubMed 20926795]).[supplied by OMIM, Jan 2011]

IL31 Gene

interleukin 31

IL31, which is made principally by activated Th2-type T cells, interacts with a heterodimeric receptor consisting of IL31RA (MIM 609510) and OSMR (MIM 601743) that is constitutively expressed on epithelial cells and keratinocytes. IL31 may be involved in the promotion of allergic skin disorders and in regulating other allergic diseases, such as asthma (Dillon et al., 2004 [PubMed 15184896]).[supplied by OMIM, Mar 2008]

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)

IL18BP Gene

interleukin 18 binding protein

The protein encoded by this gene functions as an inhibitor of the proinflammatory cytokine, IL18. It binds IL18, prevents the binding of IL18 to its receptor, and thus inhibits IL18-induced IFN-gamma production, resulting in reduced T-helper type 1 immune responses. This protein is constitutively expressed and secreted in mononuclear cells. Elevated level of this protein is detected in the intestinal tissues of patients with Crohn's disease. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011]

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]

DAPK1-IT1 Gene

DAPK1 intronic transcript 1

IGHVIII-47-1 Gene

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

IBD9 Gene

inflammatory bowel disease 9

IBD8 Gene

inflammatory bowel disease 8

IBD3 Gene

inflammatory bowel disease 3

IBD2 Gene

inflammatory bowel disease 2

IBD5 Gene

inflammatory bowel disease 5

IBD4 Gene

inflammatory bowel disease 4

IBD7 Gene

inflammatory bowel disease 7

IBD6 Gene

inflammatory bowel disease 6

ILF2P1 Gene

interleukin enhancer binding factor 2 pseudogene 1

ILF2P2 Gene

interleukin enhancer binding factor 2 pseudogene 2

IGHD4OR15-4B Gene

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

ICA1L Gene

islet cell autoantigen 1,69kDa-like

IGHD2-21 Gene

immunoglobulin heavy diversity 2-21

IGHVII-40-1 Gene

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

IFNA20P Gene

interferon, alpha 20, pseudogene

IL17D Gene

interleukin 17D

The protein encoded by this gene is a cytokine that shares the sequence similarity with IL17. The treatment of endothelial cells with this cytokine has been shown to stimulate the production of other cytokines including IL6, IL8 and CSF2/ GM-CSF. The increased expression of IL8 induced by this cytokine was found to be NF-kappa B-dependent. [provided by RefSeq, Jul 2008]

IL17F Gene

interleukin 17F

The protein encoded by this gene is a cytokine that shares sequence similarity with IL17. This cytokine is expressed by activated T cells, and has been shown to stimulate the production of several other cytokines, including IL6, IL8, and CSF2/GM_CSF. This cytokine is also found to inhibit the angiogenesis of endothelial cells and induce endothelial cells to produce IL2, TGFB1/TGFB, and monocyte chemoattractant protein-1. [provided by RefSeq, Jul 2008]

IL17A Gene

interleukin 17A

The protein encoded by this gene is a proinflammatory cytokine produced by activated T cells. This cytokine regulates the activities of NF-kappaB and mitogen-activated protein kinases. This cytokine can stimulate the expression of IL6 and cyclooxygenase-2 (PTGS2/COX-2), as well as enhance the production of nitric oxide (NO). High levels of this cytokine are associated with several chronic inflammatory diseases including rheumatoid arthritis, psoriasis and multiple sclerosis. [provided by RefSeq, Jul 2008]

IL17B Gene

interleukin 17B

The protein encoded by this gene is a T cell-derived cytokine that shares sequence similarity with IL17. This cytokine was reported to stimulate the release of TNF alpha (TNF) and IL1 beta (IL1B) from a monocytic cell line. Immunohistochemical analysis of several nerve tissues indicated that this cytokine is primarily localized to neuronal cell bodies. [provided by RefSeq, Jul 2008]

IL17C Gene

interleukin 17C

The protein encoded by this gene is a T cell-derived cytokine that shares the sequence similarity with IL17. This cytokine was reported to stimulate the release of tumor necrosis factor alpha and interleukin 1 beta from a monocytic cell line. The expression of this cytokine was found to be restricted to activated T cells. [provided by RefSeq, Jul 2008]

IGHD Gene

immunoglobulin heavy constant delta

IGLVVI-25-1 Gene

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

IFT52 Gene

intraflagellar transport 52

IFT57 Gene

intraflagellar transport 57

IDDM18 Gene

insulin-dependent diabetes mellitus 18

IGF2BP1 Gene

insulin-like growth factor 2 mRNA binding protein 1

This gene encodes a member of the insulin-like growth factor 2 mRNA-binding protein family. The protein encoded by this gene contains four K homology domains and two RNA recognition motifs. It functions by binding to the mRNAs of certain genes, including insulin-like growth factor 2, beta-actin and beta-transducin repeat-containing protein, and regulating their translation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]

IDDM15 Gene

insulin-dependent diabetes mellitus 15

IGF2BP2 Gene

insulin-like growth factor 2 mRNA binding protein 2

This gene encodes a member of the IGF-II mRNA-binding protein (IMP) family. The protein encoded by this gene contains four KH domains and two RRM domains. It functions by binding to the 5' UTR of the insulin-like growth factor 2 (IGF2) mRNA and regulating IGF2 translation. Alternative promoter usage and alternate splicing result in multiple variants encoding different isoforms. [provided by RefSeq, May 2014]

IDDM13 Gene

insulin-dependent diabetes mellitus 13

IDDM11 Gene

insulin-dependent diabetes mellitus 11

IGHD1-20 Gene

immunoglobulin heavy diversity 1-20

IGHD1-26 Gene

immunoglobulin heavy diversity 1-26

ICAM5 Gene

intercellular adhesion molecule 5, telencephalin

The protein encoded by this gene is a member of the intercellular adhesion molecule (ICAM) family. All ICAM proteins are type I transmembrane glycoproteins, contain 2-9 immunoglobulin-like C2-type domains, and bind to the leukocyte adhesion LFA-1 protein. This protein is expressed on the surface of telencephalic neurons and displays two types of adhesion activity, homophilic binding between neurons and heterophilic binding between neurons and leukocytes. It may be a critical component in neuron-microglial cell interactions in the course of normal development or as part of neurodegenerative diseases. [provided by RefSeq, Jul 2008]

ICAM4 Gene

intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)

This gene encodes the Landsteiner-Wiener (LW) blood group antigen(s) that belongs to the immunoglobulin (Ig) superfamily, and that shares similarity with the intercellular adhesion molecule (ICAM) protein family. This ICAM protein contains 2 Ig-like C2-type domains and binds to the leukocyte adhesion LFA-1 protein. The molecular basis of the LW(A)/LW(B) blood group antigens is a single aa variation at position 100; Gln-100=LW(A) and Arg-100=LW(B). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]

ICAM2 Gene

intercellular adhesion molecule 2

The protein encoded by this gene is a member of the intercellular adhesion molecule (ICAM) family. All ICAM proteins are type I transmembrane glycoproteins, contain 2-9 immunoglobulin-like C2-type domains, and bind to the leukocyte adhesion LFA-1 protein. This protein may play a role in lymphocyte recirculation by blocking LFA-1-dependent cell adhesion. It mediates adhesive interactions important for antigen-specific immune response, NK-cell mediated clearance, lymphocyte recirculation, and other cellular interactions important for immune response and surveillance. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

ICAM1 Gene

intercellular adhesion molecule 1

This gene encodes a cell surface glycoprotein which is typically expressed on endothelial cells and cells of the immune system. It binds to integrins of type CD11a / CD18, or CD11b / CD18 and is also exploited by Rhinovirus as a receptor. [provided by RefSeq, Jul 2008]

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)

IRX5 Gene

iroquois homeobox 5

This gene encodes a member of the iroquois homeobox gene family, which are involved in several embryonic developmental processes. Knockout mice lacking this gene show that it is required for retinal cone bipolar cell differentiation, and that it negatively regulates potassium channel gene expression in the heart to ensure coordinated cardiac repolarization. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]

IRX4 Gene

iroquois homeobox 4

IRX6 Gene

iroquois homeobox 6

IRX1 Gene

iroquois homeobox 1

This gene encodes a member of the Iroquois homeobox protein family. Homeobox genes in this family are involved in pattern formation in the embryo. The gene product has been identified as a tumor suppressor in gastric (PMID: 21602894, 20440264) and head and neck cancers (PMID: 18559491). A pseudogene of this gene is located on chromosome 13. [provided by RefSeq, Dec 2011]

IRX3 Gene

iroquois homeobox 3

IRX3 is a member of the Iroquois homeobox gene family (see IRX1; MIM 606197) and plays a role in an early step of neural development (Bellefroid et al., 1998 [PubMed 9427753]). Members of this family appear to play multiple roles during pattern formation of vertebrate embryos (Lewis et al., 1999 [PubMed 10370142]).[supplied by OMIM, Aug 2009]

IRX2 Gene

iroquois homeobox 2

IRX2 is a member of the Iroquois homeobox gene family. Members of this family appear to play multiple roles during pattern formation of vertebrate embryos.[supplied by OMIM, Apr 2004]

IQSEC1 Gene

IQ motif and Sec7 domain 1

IQSEC3 Gene

IQ motif and Sec7 domain 3

IQSEC2 Gene

IQ motif and Sec7 domain 2

This gene encodes a guanine nucleotide exchange factor for the ARF family of small GTP-binding proteins. The encoded protein is a component of the postsynaptic density at excitatory synapses, and may play a critical role in cytoskeletal and synaptic organization through the activation of selected ARF substrates including ARF1 and ARF6. Mutations in this gene have been implicated in nonsyndromic X-linked mental retardation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]

IGHVII-65-1 Gene

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

INHBA-AS1 Gene

INHBA antisense RNA 1

IGHE Gene

immunoglobulin heavy constant epsilon

FNDC1-IT1 Gene

FNDC1 intronic transcript 1

IFITM9P Gene

interferon induced transmembrane protein 9 pseudogene

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)

SIK3-IT1 Gene

SIK3 intronic transcript 1

IFI27 Gene

interferon, alpha-inducible protein 27

FBXO36-IT1 Gene

FBXO36 intronic transcript 1

IGHVII-53-1 Gene

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

MACROD2-IT1 Gene

MACROD2 intronic transcript 1

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]

IDNK Gene

idnK, gluconokinase homolog (E. coli)

IGHV4-61 Gene

immunoglobulin heavy variable 4-61

CAMTA1-IT1 Gene

CAMTA1 intronic transcript 1

IGHVII-62-1 Gene

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

STARD13-IT1 Gene

STARD13 intronic transcript 1

IGHVII-20-1 Gene

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

ITPA Gene

inosine triphosphatase (nucleoside triphosphate pyrophosphatase)

This gene encodes an inosine triphosphate pyrophosphohydrolase. The encoded protein hydrolyzes inosine triphosphate and deoxyinosine triphosphate to the monophosphate nucleotide and diphosphate. This protein, which is a member of the HAM1 NTPase protein family, is found in the cytoplasm and acts as a homodimer. Defects in the encoded protein can result in inosine triphosphate pyrophosphorylase deficiency which causes an accumulation of ITP in red blood cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]

IGHA2 Gene

immunoglobulin heavy constant alpha 2 (A2m marker)

IGHA1 Gene

immunoglobulin heavy constant alpha 1

IL23A Gene

interleukin 23, alpha subunit p19

This gene encodes a subunit of the heterodimeric cytokine interleukin 23 (IL23). IL23 is composed of this protein and the p40 subunit of interleukin 12 (IL12B). The receptor of IL23 is formed by the beta 1 subunit of IL12 (IL12RB1) and an IL23 specific subunit, IL23R. Both IL23 and IL12 can activate the transcription activator STAT4, and stimulate the production of interferon-gamma (IFNG). In contrast to IL12, which acts mainly on naive CD4(+) T cells, IL23 preferentially acts on memory CD4(+) T cells. [provided by RefSeq, Jul 2008]

IL23R Gene

interleukin 23 receptor

The protein encoded by this gene is a subunit of the receptor for IL23A/IL23. This protein pairs with the receptor molecule IL12RB1/IL12Rbeta1, and both are required for IL23A signaling. This protein associates constitutively with Janus kinase 2 (JAK2), and also binds to transcription activator STAT3 in a ligand-dependent manner. [provided by RefSeq, Jul 2008]

IFNWP15 Gene

interferon, omega 1 pseudogene 15

IFNWP18 Gene

interferon, omega 1 pseudogene 18

IFNWP19 Gene

interferon, omega 1 pseudogene 19

IDH3B Gene

isocitrate dehydrogenase 3 (NAD+) beta

Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. NAD(+)-dependent isocitrate dehydrogenases catalyze the allosterically regulated rate-limiting step of the tricarboxylic acid cycle. Each isozyme is a heterotetramer that is composed of two alpha subunits, one beta subunit, and one gamma subunit. The protein encoded by this gene is the beta subunit of one isozyme of NAD(+)-dependent isocitrate dehydrogenase. Three alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

IDH3G Gene

isocitrate dehydrogenase 3 (NAD+) gamma

Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. NAD(+)-dependent isocitrate dehydrogenases catalyze the allosterically regulated rate-limiting step of the tricarboxylic acid cycle. Each isozyme is a heterotetramer that is composed of two alpha subunits, one beta subunit, and one gamma subunit. The protein encoded by this gene is the gamma subunit of one isozyme of NAD(+)-dependent isocitrate dehydrogenase. This gene is a candidate gene for periventricular heterotopia. Several alternatively spliced transcript variants of this gene have been described, but only some of their full length natures have been determined. [provided by RefSeq, Jul 2008]

ICK Gene

intestinal cell (MAK-like) kinase

Eukaryotic protein kinases are enzymes that belong to a very extensive family of proteins which share a conserved catalytic core common with both serine/threonine and tyrosine protein kinases. This gene encodes an intestinal serine/threonine kinase harboring a dual phosphorylation site found in mitogen-activating protein (MAP) kinases. The protein localizes to the intestinal crypt region and is thought to be important in intestinal epithelial cell proliferation and differentiation. Alternative splicing has been observed at this locus and two variants, encoding the same isoform, have been identified. [provided by RefSeq, Jul 2008]

IQCB1 Gene

IQ motif containing B1

This gene encodes a nephrocystin protein that interacts with calmodulin and the retinitis pigmentosa GTPase regulator protein. The encoded protein has a central coiled-coil region and two calmodulin-binding IQ domains. It is localized to the primary cilia of renal epithelial cells and connecting cilia of photoreceptor cells. The protein is thought to play a role in ciliary function. Defects in this gene result in Senior-Loken syndrome type 5. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]

SMG6-IT1 Gene

SMG6 intronic transcript 1

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)

IRS3P Gene

insulin receptor substrate 3, pseudogene

ITPRIPL2 Gene

inositol 1,4,5-trisphosphate receptor interacting protein-like 2

ITPRIPL1 Gene

inositol 1,4,5-trisphosphate receptor interacting protein-like 1

IMMP1LP1 Gene

IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae) pseudogene 1

IGKV2-24 Gene

immunoglobulin kappa variable 2-24

ANP32A-IT1 Gene

ANP32A intronic transcript 1

IL18R1 Gene

interleukin 18 receptor 1

The protein encoded by this gene is a cytokine receptor that belongs to the interleukin 1 receptor family. This receptor specifically binds interleukin 18 (IL18), and is essential for IL18 mediated signal transduction. IFN-alpha and IL12 are reported to induce the expression of this receptor in NK and T cells. This gene along with four other members of the interleukin 1 receptor family, including IL1R2, IL1R1, ILRL2 (IL-1Rrp2), and IL1RL1 (T1/ST2), form a gene cluster on chromosome 2q. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]

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)

ICR3 Gene

ichthyosis congenita III, vulgaris-like recessive ichthyosis

ICR1 Gene

ichthyosis congenita I, erythromatous lamellar ichthyosis, ichthyosiform erythroderma

ICR4 Gene

ichthyosis congenita IV, ichthyosis-prematurity syndrome

IBTK Gene

inhibitor of Bruton agammaglobulinemia tyrosine kinase

Bruton tyrosine kinase (BTK) is a protein tyrosine kinase that is expressed in B cells, macrophages, and neutrophils. The protein encoded by this gene binds to BTK and downregulates BTK's kinase activity. In addition, the encoded protein disrupts BTK-mediated calcium mobilization and negatively regulates the activation of nuclear factor-kappa-B-driven transcription. This gene has a pseudogene on chromosome 18. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]

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)

ITIH1 Gene

inter-alpha-trypsin inhibitor heavy chain 1

The protein encoded by this gene is the heavy chain of a serine protease inhibitor that may serve to carry hyaluronan in plasma. This gene is part of a cluster of similar genes on chromosome 3. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

ITIH3 Gene

inter-alpha-trypsin inhibitor heavy chain 3

The inter-alpha-trypsin inhibitors (ITI) are a family of structurally related plasma serine protease inhibitors involved in extracellular matrix stabilization and in prevention of tumor metastasis. The ITI family contains multiple proteins made up of a light chain (see MIM 176870) and a variable number of heavy chains (Salier et al., 1987 [PubMed 2446322]; Himmelfarb et al., 2004 [PubMed 14744536]).[supplied by OMIM, Nov 2009]

ITIH2 Gene

inter-alpha-trypsin inhibitor heavy chain 2

The inter-alpha-trypsin inhibitors (ITI) are a family of structurally related plasma serine protease inhibitors involved in extracellular matrix stabilization and in prevention of tumor metastasis. The ITI family contains multiple proteins made up of a light chain (see MIM 176870) and a variable number of heavy chains (Salier et al., 1987 [PubMed 2446322]; Himmelfarb et al., 2004 [PubMed 14744536]).[supplied by OMIM, Nov 2009]

ITIH5 Gene

inter-alpha-trypsin inhibitor heavy chain family, member 5

This gene encodes a heavy chain component of one of the inter-alpha-trypsin inhibitor (ITI) family members. ITI proteins are involved in extracellular matrix stabilization and in the prevention of tumor metastasis. They are also structurally related plasma serine protease inhibitors and are composed of a light chain and varying numbers of heavy chains. This family member is thought to function as a tumor suppressor in breast and thyroid cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]

ITIH4 Gene

inter-alpha-trypsin inhibitor heavy chain family, member 4

The protein encoded by this gene is secreted into the blood, where it is cleaved by plasma kallikrein into two smaller forms. Expression of this gene has been detected only in liver, and it seems to be upregulated during surgical trauma. This gene is part of a cluster of similar genes on chromosome 3. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

ITIH6 Gene

inter-alpha-trypsin inhibitor heavy chain family, member 6

The protein encoded by this gene belongs to the interalpha trypsin inhibitor heavy chain (ITIH) family. Interalpha trypsin inhibitor (ITI) is composed of two heavy chains (containing VWA domain) and one light chain. The light chain confers the protease-inhibitor function, while the heavy chains are involved in mediating protein-protein interactions with the components of the extracellular matrix. [provided by RefSeq, Sep 2009]

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]

UPP2-IT1 Gene

UPP2 intronic transcript 1

IFNA6 Gene

interferon, alpha 6

IFT122 Gene

intraflagellar transport 122

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This cytoplasmic protein contains seven WD repeats and an AF-2 domain which function by recruiting coregulatory molecules and in transcriptional activation. Mutations in this gene cause cranioectodermal dysplasia-1. A related pseudogene is located on chromosome 3. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]

IGHV3OR15-7 Gene

immunoglobulin heavy variable 3/OR15-7 (pseudogene)

IKZF5 Gene

IKAROS family zinc finger 5 (Pegasus)

Members of the Ikaros (ZNFN1A1; MIM 603023) family of transcription factors, which includes Pegasus, are expressed in lymphocytes and are implicated in the control of lymphoid development.[supplied by OMIM, Jul 2002]

IKZF4 Gene

IKAROS family zinc finger 4 (Eos)

Members of the Ikaros (ZNFN1A1; MIM 603023) family of transcription factors, which includes Eos, are expressed in lymphocytes and are implicated in the control of lymphoid development.[supplied by OMIM, Jul 2002]

IKZF1 Gene

IKAROS family zinc finger 1 (Ikaros)

This gene encodes a transcription factor that belongs to the family of zinc-finger DNA-binding proteins associated with chromatin remodeling. The expression of this protein is restricted to the fetal and adult hemo-lymphopoietic system, and it functions as a regulator of lymphocyte differentiation. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. Most isoforms share a common C-terminal domain, which contains two zinc finger motifs that are required for hetero- or homo-dimerization, and for interactions with other proteins. The isoforms, however, differ in the number of N-terminal zinc finger motifs that bind DNA and in nuclear localization signal presence, resulting in members with and without DNA-binding properties. Only a few isoforms contain the requisite three or more N-terminal zinc motifs that confer high affinity binding to a specific core DNA sequence element in the promoters of target genes. The non-DNA-binding isoforms are largely found in the cytoplasm, and are thought to function as dominant-negative factors. Overexpression of some dominant-negative isoforms have been associated with B-cell malignancies, such as acute lymphoblastic leukemia (ALL). [provided by RefSeq, May 2014]

IKZF3 Gene

IKAROS family zinc finger 3 (Aiolos)

This gene encodes a member of the Ikaros family of zinc-finger proteins. Three members of this protein family (Ikaros, Aiolos and Helios) are hematopoietic-specific transcription factors involved in the regulation of lymphocyte development. This gene product is a transcription factor that is important in the regulation of B lymphocyte proliferation and differentiation. Both Ikaros and Aiolos can participate in chromatin remodeling. Regulation of gene expression in B lymphocytes by Aiolos is complex as it appears to require the sequential formation of Ikaros homodimers, Ikaros/Aiolos heterodimers, and Aiolos homodimers. Several alternative transcripts encoding different isoforms have been described, as well as some non-protein coding variants. [provided by RefSeq, Apr 2012]

IKZF2 Gene

IKAROS family zinc finger 2 (Helios)

This gene encodes a member of the Ikaros family of zinc-finger proteins. Three members of this protein family (Ikaros, Aiolos and Helios) are hematopoietic-specific transcription factors involved in the regulation of lymphocyte development. This protein forms homo- or hetero-dimers with other Ikaros family members, and is thought to function predominantly in early hematopoietic development. Multiple transcript variants encoding different isoforms have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]

IRF5P1 Gene

interferon regulatory factor 5 pseudogene 1

IQCF5-AS1 Gene

IQCF5 antisense RNA 1

KCND3-IT1 Gene

KCND3 intronic transcript 1

IGES Gene

immunoglobulin E concentration, serum

IFT80 Gene

intraflagellar transport 80

The protein encoded by this gene is part of the intraflagellar transport complex B and is necessary for the function of motile and sensory cilia. Defects in this gene are a cause of asphyxiating thoracic dystrophy 2 (ATD2). Three transcript variants encoding two different isoforms have been found for this gene.[provided by RefSeq, Jun 2010]

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)

ITGB1BP1 Gene

integrin beta 1 binding protein 1

The cytoplasmic domains of integrins are essential for cell adhesion. The protein encoded by this gene binds to the beta1 integrin cytoplasmic domain. The interaction between this protein and beta1 integrin is highly specific. Two isoforms of this protein are derived from alternatively spliced transcripts. The shorter form of this protein does not interact with the beta1 integrin cytoplasmic domain. The longer form is a phosphoprotein and the extent of its phosphorylation is regulated by the cell-matrix interaction, suggesting an important role of this protein during integrin-dependent cell adhesion. [provided by RefSeq, Jul 2008]

ITGB1BP2 Gene

integrin beta 1 binding protein (melusin) 2

ILKAP Gene

integrin-linked kinase-associated serine/threonine phosphatase

The protein encoded by this gene is a protein serine/threonine phosphatase of the PP2C family. This protein can interact with integrin-linked kinase (ILK/ILK1), a regulator of integrin mediated signaling, and regulate the kinase activity of ILK. Through the interaction with ILK, this protein may selectively affect the signaling process of ILK-mediated glycogen synthase kinase 3 beta (GSK3beta), and thus participate in Wnt signaling pathway. [provided by RefSeq, Jul 2008]

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)

IL6ST Gene

interleukin 6 signal transducer

The protein encoded by this gene is a signal transducer shared by many cytokines, including interleukin 6 (IL6), ciliary neurotrophic factor (CNTF), leukemia inhibitory factor (LIF), and oncostatin M (OSM). This protein functions as a part of the cytokine receptor complex. The activation of this protein is dependent upon the binding of cytokines to their receptors. vIL6, a protein related to IL6 and encoded by the Kaposi sarcoma-associated herpesvirus, can bypass the interleukin 6 receptor (IL6R) and directly activate this protein. Knockout studies in mice suggest that this gene plays a critical role in regulating myocyte apoptosis. Alternatively spliced transcript variants have been described. A related pseudogene has been identified on chromosome 17. [provided by RefSeq, May 2014]

IFITM4P Gene

interferon induced transmembrane protein 4 pseudogene

IL2RA Gene

interleukin 2 receptor, alpha

The interleukin 2 (IL2) receptor alpha (IL2RA) and beta (IL2RB) chains, together with the common gamma chain (IL2RG), constitute the high-affinity IL2 receptor. Homodimeric alpha chains (IL2RA) result in low-affinity receptor, while homodimeric beta (IL2RB) chains produce a medium-affinity receptor. Normally an integral-membrane protein, soluble IL2RA has been isolated and determined to result from extracellular proteolyisis. Alternately-spliced IL2RA mRNAs have been isolated, but the significance of each is presently unknown. Mutations in this gene are associated with interleukin 2 receptor alpha deficiency.[provided by RefSeq, Nov 2009]

IL2RB Gene

interleukin 2 receptor, beta

The interleukin 2 receptor, which is involved in T cell-mediated immune responses, is present in 3 forms with respect to ability to bind interleukin 2. The low affinity form is a monomer of the alpha subunit and is not involved in signal transduction. The intermediate affinity form consists of an alpha/beta subunit heterodimer, while the high affinity form consists of an alpha/beta/gamma subunit heterotrimer. Both the intermediate and high affinity forms of the receptor are involved in receptor-mediated endocytosis and transduction of mitogenic signals from interleukin 2. The protein encoded by this gene represents the beta subunit and is a type I membrane protein. [provided by RefSeq, Jul 2008]

IL2RG Gene

interleukin 2 receptor, gamma

The protein encoded by this gene is an important signaling component of many interleukin receptors, including those of interleukin -2, -4, -7 and -21, and is thus referred to as the common gamma chain. Mutations in this gene cause X-linked severe combined immunodeficiency (XSCID), as well as X-linked combined immunodeficiency (XCID), a less severe immunodeficiency disorder. [provided by RefSeq, Mar 2010]

IRX1P1 Gene

iroquois homeobox 1 pseudogene 1

IL6R Gene

interleukin 6 receptor

This gene encodes a subunit of the interleukin 6 (IL6) receptor complex. Interleukin 6 is a potent pleiotropic cytokine that regulates cell growth and differentiation and plays an important role in the immune response. The IL6 receptor is a protein complex consisting of this protein and interleukin 6 signal transducer (IL6ST/GP130/IL6-beta), a receptor subunit also shared by many other cytokines. Dysregulated production of IL6 and this receptor are implicated in the pathogenesis of many diseases, such as multiple myeloma, autoimmune diseases and prostate cancer. Alternatively spliced transcript variants encoding distinct isoforms have been reported. A pseudogene of this gene is found on chromosome 9.[provided by RefSeq, May 2011]

AGPAT4-IT1 Gene

AGPAT4 intronic transcript 1

AKT3-IT1 Gene

AKT3 intronic transcript 1

ITGB3BP Gene

integrin beta 3 binding protein (beta3-endonexin)

This gene encodes a transcriptional coregulator that binds to and enhances the activity of members of the nuclear receptor families, thyroid hormone receptors and retinoid X receptors. This protein also acts as a corepressor of NF-kappaB-dependent signaling. This protein induces apoptosis in breast cancer cells through a caspase 2-mediated signaling pathway. This protein is also a component of the centromere-specific histone H3 variant nucleosome associated complex (CENP-NAC) and may be involved in mitotic progression by recruiting the histone H3 variant CENP-A to the centromere. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]

IGHD4OR15-4A Gene

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

ISCA1P4 Gene

iron-sulfur cluster assembly 1 pseudogene 4

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)

INTS6P1 Gene

integrator complex subunit 6 pseudogene 1

HAO2-IT1 Gene

HAO2 intronic transcript 1

ISY1-RAB43 Gene

ISY1-RAB43 readthrough

This locus represents naturally occurring read-through transcription between the neighboring ISY1 (ISY1 splicing factor homolog) and RAB43 (RAB43, member RAS oncogene family) gene on chromosome 3. The read-through transcript encodes a protein that shares sequence identity with the upstream gene product, but its C-terminus is distinct due to a frameshift relative to the downstream gene. [provided by RefSeq, Mar 2011]

ICOS Gene

inducible T-cell co-stimulator

The protein encoded by this gene belongs to the CD28 and CTLA-4 cell-surface receptor family. It forms homodimers and plays an important role in cell-cell signaling, immune responses, and regulation of cell proliferation. [provided by RefSeq, Jul 2008]

IDUA Gene

iduronidase, alpha-L-

This gene encodes an enzyme that hydrolyzes the terminal alpha-L-iduronic acid residues of two glycosaminoglycans, dermatan sulfate and heparan sulfate. This hydrolysis is required for the lysosomal degradation of these glycosaminoglycans. Mutations in this gene that result in enzymatic deficiency lead to the autosomal recessive disease mucopolysaccharidosis type I (MPS I). [provided by RefSeq, Jul 2008]

KLF7-IT1 Gene

KLF7 intronic transcript 1

KIRREL-IT1 Gene

KIRREL intronic transcript 1

IGFBP6 Gene

insulin-like growth factor binding protein 6

ITGB2-AS1 Gene

ITGB2 antisense RNA 1

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)

IFI6 Gene

interferon, alpha-inducible protein 6

This gene was first identified as one of the many genes induced by interferon. The encoded protein may play a critical role in the regulation of apoptosis. A minisatellite that consists of 26 repeats of a 12 nucleotide repeating element resembling the mammalian splice donor consensus sequence begins near the end of the second exon. Alternatively spliced transcript variants that encode different isoforms by using the two downstream repeat units as splice donor sites have been described. [provided by RefSeq, Jul 2008]

IL21R-AS1 Gene

IL21R antisense RNA 1

IDDM24 Gene

Diabetes mellitus, insulin-dependent, 24

IDDM23 Gene

Diabetes mellitus, insulin-dependent, 23

INSIG1 Gene

insulin induced gene 1

Oxysterols regulate cholesterol homeostasis through the liver X receptor (LXR)- and sterol regulatory element-binding protein (SREBP)-mediated signaling pathways. This gene is an insulin-induced gene. It encodes an endoplasmic reticulum (ER) membrane protein that plays a critical role in regulating cholesterol concentrations in cells. This protein binds to the sterol-sensing domains of SREBP cleavage-activating protein (SCAP) and HMG CoA reductase, and is essential for the sterol-mediated trafficking of the two proteins. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jun 2009]

IGLV6-57 Gene

immunoglobulin lambda variable 6-57

ANKRD44-IT1 Gene

ANKRD44 intronic transcript 1

IVD Gene

isovaleryl-CoA dehydrogenase

Isovaleryl-CoA dehydrogenase (IVD) is a mitochondrial matrix enzyme that catalyzes the third step in leucine catabolism. The genetic deficiency of IVD results in an accumulation of isovaleric acid, which is toxic to the central nervous system and leads to isovaleric acidemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009]

IVL Gene

involucrin

Involucrin, a component of the keratinocyte crosslinked envelope, is found in the cytoplasm and crosslinked to membrane proteins by transglutaminase. This gene is mapped to 1q21, among calpactin I light chain, trichohyalin, profillaggrin, loricrin, and calcyclin. [provided by RefSeq, Jul 2008]

FAM155A-IT1 Gene

FAM155A intronic transcript 1

SYNJ2-IT1 Gene

SYNJ2 intronic transcript 1

IL9RP4 Gene

interleukin 9 receptor pseudogene 4

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]

IBTKP1 Gene

inhibitor of Bruton agammaglobulinemia tyrosine kinase pseudogene 1

IGHV1OR15-5 Gene

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

PPP2R2B-IT1 Gene

PPP2R2B intronic transcript 1

ITPKB-AS1 Gene

ITPKB antisense RNA 1

ISCU Gene

iron-sulfur cluster assembly enzyme

Iron-sulfur (Fe-S) clusters are necessary for several mitochondrial enzymes and other subcellular compartment proteins. They contain sulfur and iron, and are created via several steps that include cysteine desulfurases, iron donors, chaperones, and scaffold proteins. This gene encodes the two isomeric forms, ISCU1 and ISCU2, of the Fe-S cluster scaffold protein. Mutations in this gene have been found in patients with myopathy with severe exercise intolerance and myoglobinuria. A pseudogene of this gene is present on chromosome 1. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]

ISCW Gene

Immune suppression to streptococcal antigen

ZBTB40-IT1 Gene

ZBTB40 intronic transcript 1

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)

TTLL11-IT1 Gene

TTLL11 intronic transcript 1

IDDM17 Gene

insulin-dependent diabetes mellitus 17

IDDM16 Gene

insulin-dependent diabetes mellitus 16

IGF2BP3 Gene

insulin-like growth factor 2 mRNA binding protein 3

The protein encoded by this gene is primarily found in the nucleolus, where it can bind to the 5' UTR of the insulin-like growth factor II leader 3 mRNA and may repress translation of insulin-like growth factor II during late development. The encoded protein contains several KH domains, which are important in RNA binding and are known to be involved in RNA synthesis and metabolism. A pseudogene exists on chromosome 7, and there are putative pseudogenes on other chromosomes. [provided by RefSeq, Jul 2008]

IDDM14 Gene

insulin-dependent diabetes mellitus 14

INIP Gene

INTS3 and NABP interacting protein

SOSSC is 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]

RERG-IT1 Gene

RERG intronic transcript 1

IGKV6D-21 Gene

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

KCNIP4-IT1 Gene

KCNIP4 intronic transcript 1

TRIM59-IFT80 Gene

TRIM59-IFT80 protein

IGHV3-33-2 Gene

immunoglobulin heavy variable 3-33-2 (pseudogene)

IFIT6P Gene

interferon-induced protein with tetratricopeptide repeats 6, pseudogene

INS Gene

insulin

After removal of the precursor signal peptide, proinsulin is post-translationally cleaved into three peptides: the B chain and A chain peptides, which are covalently linked via two disulfide bonds to form insulin, and C-peptide. Binding of insulin to the insulin receptor (INSR) stimulates glucose uptake. A multitude of mutant alleles with phenotypic effects have been identified. There is a read-through gene, INS-IGF2, which overlaps with this gene at the 5' region and with the IGF2 gene at the 3' region. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]

INA Gene

internexin neuronal intermediate filament protein, alpha

Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and they functionally maintain the neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene is a member of the intermediate filament family and is involved in the morphogenesis of neurons. [provided by RefSeq, Jun 2009]

IQSEC3P1 Gene

IQ motif and Sec7 domain 3 pseudogene 1

IQSEC3P2 Gene

IQ motif and Sec7 domain 3 pseudogene 2

IQSEC3P3 Gene

IQ motif and Sec7 domain 3 pseudogene 3

IRS4 Gene

insulin receptor substrate 4

IRS4 encodes the insulin receptor substrate 4, a cytoplasmic protein that contains many potential tyrosine and serine/threonine phosphorylation sites. Tyrosine-phosphorylated IRS4 protein has been shown to associate with cytoplasmic signalling molecules that contain SH2 domains. The IRS4 protein is phosphorylated by the insulin receptor tyrosine kinase upon receptor stimulation.. [provided by RefSeq, Jul 2008]

IRS1 Gene

insulin receptor substrate 1

This gene encodes a protein which is phosphorylated by insulin receptor tyrosine kinase. Mutations in this gene are associated with type II diabetes and susceptibility to insulin resistance. [provided by RefSeq, Nov 2009]

IRS2 Gene

insulin receptor substrate 2

This gene encodes the insulin receptor substrate 2, a cytoplasmic signaling molecule that mediates effects of insulin, insulin-like growth factor 1, and other cytokines by acting as a molecular adaptor between diverse receptor tyrosine kinases and downstream effectors. The product of this gene is phosphorylated by the insulin receptor tyrosine kinase upon receptor stimulation, as well as by an interleukin 4 receptor-associated kinase in response to IL4 treatment. [provided by RefSeq, Jul 2008]

IARS Gene

isoleucyl-tRNA synthetase

Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAS, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Isoleucine-tRNA synthetase belongs to the class-I aminoacyl-tRNA synthetase family and has been identified as a target of autoantibodies in the autoimmune disease polymyositis/dermatomyositis. Alternatively spliced transcript variants have been found. [provided by RefSeq, Nov 2012]

IQCB2P Gene

IQ motif containing B2 pseudogene

IRAIN Gene

IGF1R antisense imprinted non-protein coding RNA

This gene represents transcription of a long non-coding RNA produced in antisense to the insulin-like growth factor type I receptor (IGF1R) gene. This transcript is imprinted and expressed from the paternal allele. It interacts with chromatin and may promote long-range DNA interactions that influence gene expression regulation. [provided by RefSeq, Feb 2015]

ALMS1-IT1 Gene

ALMS1 intronic transcript 1

INADL Gene

InaD-like (Drosophila)

This gene encodes a protein with multiple PDZ domains. PDZ domains mediate protein-protein interactions, and proteins with multiple PDZ domains often organize multimeric complexes at the plasma membrane. This protein localizes to tight junctions and to the apical membrane of epithelial cells. A similar protein in Drosophila is a scaffolding protein which tethers several members of a multimeric signaling complex in photoreceptors. [provided by RefSeq, Jul 2008]

IGHVIII-22-2 Gene

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

INTLQ1 Gene

Intelligence QTL1

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)

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)

ISPD Gene

isoprenoid synthase domain containing

This gene encodes a 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein. Mutations in this gene are the cause of Walker-Warburg syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2012]

ZNRF3-IT1 Gene

ZNRF3 intronic transcript 1

IGLV8OR8-1 Gene

immunoglobulin lambda variable 8/OR8-1 (pseudogene)

IMP3P1 Gene

IMP3 pseudogene 1

IGKV1OR2-108 Gene

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

IFNA12P Gene

interferon, alpha 12, pseudogene

IGHV3OR16-14 Gene

immunoglobulin heavy variable 3/OR16-14 (pseudogene)

IGHV3OR16-6 Gene

immunoglobulin heavy variable 3/OR16-6 (pseudogene)

IGSF11-AS1 Gene

IGSF11 antisense RNA 1

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

FOXP1-IT1 Gene

FOXP1 intronic transcript 1

IGHVIII-51-1 Gene

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

IGHV1-46 Gene

immunoglobulin heavy variable 1-46

IMP3 Gene

IMP3, U3 small nucleolar ribonucleoprotein

This gene encodes the human homolog of the yeast Imp3 protein. The protein localizes to the nucleoli and interacts with the U3 snoRNP complex. The protein contains an S4 domain. [provided by RefSeq, Jul 2008]

IMP4 Gene

IMP4, U3 small nucleolar ribonucleoprotein

IMP4 forms a ternary complex with IMP3 (MIM 612980) and MPP10 (MPHOSPHO10; MIM 605503) that interacts with U3 small nucleolar RNA (snoRNA), which is required for the early cleavage steps in pre-rRNA processing (Granneman et al., 2003 [PubMed 12655004]).[supplied by OMIM, Aug 2009]

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)

IPPKP1 Gene

inositol 1,3,4,5,6-pentakisphosphate 2-kinase pseudogene 1

IGHDOR15@ Gene

immunoglobulin heavy diversity orphans on chromosome 15

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

IGKV2-40 Gene

immunoglobulin kappa variable 2-40