Name

RNU1-16P Gene

RNA, U1 small nuclear 16, pseudogene

RNU1-13P Gene

RNA, U1 small nuclear 13, pseudogene

GS1-120K12.4 Gene

uncharacterized LOC101929069

KRTAP4-16P Gene

keratin associated protein 4-16, pseudogene

RNU7-13P Gene

RNA, U7 small nuclear 13 pseudogene

TRIP4Q32.1Q32.2 Gene

Chromosome 4q32.1-q32.2 triplication syndrome

GS1-124K5.11 Gene

RAB guanine nucleotide exchange factor (GEF) 1 pseudogene

LL22NC03-104C7.1 Gene

uncharacterized LOC105373004

RNU1-18P Gene

RNA, U1 small nuclear 18, pseudogene

KRTAP5-13P Gene

keratin associated protein 5-13, pseudogene

RNU7-14P Gene

RNA, U7 small nuclear 14 pseudogene

1060P11.3 Gene

killer cell immunoglobulin-like receptor, three domains, pseudogene

CTB-12O2.1 Gene

uncharacterized LOC101927115

DUP17Q23.1Q23.2 Gene

Chromosome 17q23.1-q23.2 duplication syndrome

RNU6-15P Gene

RNA, U6 small nuclear 15, pseudogene

RNU1-15P Gene

RNA, U1 small nuclear 15, pseudogene

CTB-174D11.1 Gene

RNU6-10P Gene

RNA, U6 small nuclear 10, pseudogene

IGKV1OR15-118 Gene

immunoglobulin kappa variable 1/OR15-118 (pseudogene)

LL0XNC01-116E7.2 Gene

uncharacterized LOC100128594

RNU7-11P Gene

RNA, U7 small nuclear 11 pseudogene

RNU7-19P Gene

RNA, U7 small nuclear 19 pseudogene

CH507-145C22.1 Gene

uncharacterized LOC105379493

RNU7-10P Gene

RNA, U7 small nuclear 10 pseudogene

DEL16P12.1P11.2 Gene

Chromosome 16p12.2-p11.2 deletion syndrome

RNU7-12P Gene

RNA, U7 small nuclear 12 pseudogene

KRTAP19-11P Gene

keratin associated protein 19-11, pseudogene

DEL17Q23.1Q23.2 Gene

Chromosome 17q23.1-q23.2 deletion syndrome

RNU1-17P Gene

RNA, U1 small nuclear 17, pseudogene

CTB-113P19.1 Gene

uncharacterized LOC101927096

KRTAP9-11P Gene

keratin associated protein 9-11, pseudogene

IGKV1OR2-108 Gene

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

RNU6-19P Gene

RNA, U6 small nuclear 19, pseudogene

RNU6-16P Gene

RNA, U6 small nuclear 16, pseudogene

KRTAP5-14P Gene

keratin associated protein 5-14, pseudogene

RNU7-17P Gene

RNA, U7 small nuclear 17 pseudogene

GS1-124K5.4 Gene

uncharacterized LOC100289098

KRTAP10-13P Gene

keratin associated protein 10-13, pseudogene

RNU7-18P Gene

RNA, U7 small nuclear 18 pseudogene

LL22NC03-13G6.2 Gene

uncharacterized LOC105373009

RNU1-14P Gene

RNA, U1 small nuclear 14, pseudogene

MIR1-1HG Gene

MIR1-1 host gene

CH17-125A10.2 Gene

uncharacterized LOC101927333

CTB-178M22.2 Gene

uncharacterized LOC101927862

RNU1-11P Gene

RNA, U1 small nuclear 11, pseudogene

RNU4-10P Gene

RNA, U4 small nuclear 10, pseudogene

RNU1-19P Gene

RNA, U1 small nuclear 19, pseudogene

RNU6-14P Gene

RNA, U6 small nuclear 14, pseudogene

KRTAP19-10P Gene

keratin associated protein 19-10, pseudogene

RNU7-15P Gene

RNA, U7 small nuclear 15 pseudogene

RNU5E-10P Gene

RNA, U5E small nuclear 10, pseudogene

LL22NC03-102D1.18 Gene

uncharacterized LOC105372949

CTB-1I21.1 Gene

uncharacterized LOC105379191

KRTAP9-12P Gene

keratin associated protein 9-12, pseudogene

IGKV1OR2-118 Gene

immunoglobulin kappa variable 1/OR2-118 (pseudogene)

RNU7-16P Gene

RNA, U7 small nuclear 16 pseudogene

SQTL2 Gene

Smoking as a quantitative trait locus 2

SQTL1 Gene

Smoking as a quantitative trait locus 1

HCHGQ1 Gene

Hematocrit/hemoglobin quantitative trait locus 1

HCHGQ3 Gene

Hematocrit/hemoglobin quantitative trait locus 3

HCHGQ2 Gene

Hematocrit/hemoglobin quantitative trait locus 2

BMIQ8 Gene

body mass index quantitative trait locus 8

HPCQTL19 Gene

Prostate cancer aggressiveness quantitative trait locus on chromosome 19

STQTL8 Gene

stature quantitative trait locus 8

STQTL4 Gene

stature quantitative trait locus 4

STQTL5 Gene

stature quantitative trait locus 5

STQTL2 Gene

stature quantitative trait locus 2

STQTL3 Gene

stature quantitative trait locus 3

STQTL6 Gene

stature quantitative trait locus 6

STQTL7 Gene

stature quantitative trait locus 7

MUSTQTL1 Gene

Muscle strength quantitative trait locus 1

BSZQTL3 Gene

Bone size quantitative trait locus 3

GEVQ1 Gene

gene expression, variation in, quantitative trait locus

GEVQ2 Gene

gene expression, variation in, quantitative trait locus

BMND8 Gene

bone mineral density quantiative trait locus 8

BMND7 Gene

bone mineral density quantiative trait locus 7

LY6G6C Gene

lymphocyte antigen 6 complex, locus G6C

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

LY6G6E Gene

lymphocyte antigen 6 complex, locus G6E (pseudogene)

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

LY6G6D Gene

lymphocyte antigen 6 complex, locus G6D

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

GCOM2 Gene

GRINL1B complex locus 2, pseudogene

GCOM1 Gene

GRINL1A complex locus 1

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

MECOM Gene

MDS1 and EVI1 complex locus

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

NPAT Gene

nuclear protein, ataxia-telangiectasia locus

LCR-OPSIN Gene

opsin locus control region

The genes encoding the red (OPN1LW; MIM 300822) and green (OPN1MW; MIM 300821) photopigments are arranged in a head-to-tail tandem array on chromosome Xq28, with a single red pigment gene followed by 1 or more green pigment genes. A master switch for the genes of this locus, called the locus control region (LCR), is located between 3.1 kb and 3.7 kb 5-prime of the gene array and has been shown to be essential for expression of both the red and green pigment genes as well as cone-specific expression of the genes and their segregated expression in separate cones (summary by Deeb, 2005 [PubMed 15811001]).[supplied by OMIM, Mar 2011]

HBN1 Gene

Progressive familial heart block, type I, locus 1

LY6G5C Gene

lymphocyte antigen 6 complex, locus G5C

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

LY6G5B Gene

lymphocyte antigen 6 complex, locus G5B

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

FLJ32742 Gene

uncharacterized locus FLJ32742

SPEG Gene

SPEG complex locus

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

GNAS Gene

GNAS complex locus

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

TRG-AS1 Gene

T cell receptor gamma locus antisense RNA 1

LY6G6F Gene

lymphocyte antigen 6 complex, locus G6F

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

LCRB Gene

locus control region, beta

UGT1A Gene

UDP glucuronosyltransferase 1 family, polypeptide A complex locus

This RefSeq represents a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. [provided by RefSeq, Jul 2008]

LOC100289568 Gene

UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus pseudogene

LOC388221 Gene

NPIP-like locus

SCZD11 Gene

Schizophrenia susceptibility locus, chromosome 10q-related

TRA Gene

T cell receptor alpha locus

TRB Gene

T cell receptor beta locus

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor beta locus. The beta locus includes V (variable), J (joining), diversity (D), and C (constant) segments. During T cell development, the beta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Several V segments and one J segment of the beta locus are known to be incapable of encoding a protein and are considered pseudogenes. The beta locus also includes eight trypsinogen genes, three of which encode functional proteins and five of which are pseudogenes. Chromosomal abnormalities involving the T-cell receptor beta locus have been associated with T-cell lymphomas. [provided by RefSeq, Jul 2008]

TRD Gene

T cell receptor delta locus

TRG Gene

T cell receptor gamma locus

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor gamma locus. The gamma locus includes V (variable), J (joining), and C (constant) segments. During T cell development, the gamma chain is synthesized by a recombination event at the DNA level joining a V segment with a J segment; the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random addition of nucleotides by terminal deoxynucleotidyltransferase. Several V segments of the gamma locus are known to be incapable of encoding a protein and are considered pseudogenes. Somatic rearrangement of the gamma locus has been observed in T cells derived from patients with T cell leukemia and ataxia telangiectasia. [provided by RefSeq, Jul 2008]

ESP33 Gene

uncharacterized locus ESP33

BDA1B Gene

Brachydactyly, type A1, locus B

DEFA1A3 Gene

defensin, alpha 1 and alpha 3, variable copy number locus

PCDHA@ Gene

protocadherin alpha cluster, complex locus

The protocadherin alpha gene cluster is one of three related clusters tandemly linked on chromosome five. The clusters have a genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 genes and 1 pseudogene, which are members of the cadherin superfamily and related to the mouse CNR genes. The sequence of the 13 upstream genes and the pseudogene are highly similar to one another, while a subfamily (C) contains two more distantly related coding sequences. The alpha cluster genes are organized in a tandem array of 15 large, variable region exons followed by a constant region, which contains 3 exons shared by all genes in the cluster. Each variable region exon encodes an extracellular domain comprised of 6 cadherin ectodomains and a transmembrane region. The constant region exons encode a common cytoplasmic tail. These neural adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the alpha cluster genes. [provided by RefSeq, Jul 2008]

ITS Gene

Insulinoma tumor suppressor gene locus

BGLT3 Gene

beta globin locus transcript 3 (non-protein coding)

STIL Gene

SCL/TAL1 interrupting locus

This gene encodes a cytoplasmic protein implicated in regulation of the mitotic spindle checkpoint, a regulatory pathway that monitors chromosome segregation during cell division to ensure the proper distribution of chromosomes to daughter cells. The protein is phosphorylated in mitosis and in response to activation of the spindle checkpoint, and disappears when cells transition to G1 phase. It interacts with a mitotic regulator, and its expression is required to efficiently activate the spindle checkpoint. It is proposed to regulate Cdc2 kinase activity during spindle checkpoint arrest. Chromosomal deletions that fuse this gene and the adjacent locus commonly occur in T cell leukemias, and are thought to arise through illegitimate V-(D)-J recombination events. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

UGT2A1 Gene

UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus

The protein encoded by this gene belongs to the UDP-glycosyltransferase family, members of which catalyze biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase water solubility and enhance excretion. They are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This enzyme is expressed in the olfactory neuroepithelium, which lines the posterior nasal cavity and is exposed to a wide range of odorants and airborne toxic compounds. Hence, this protein has been suggested to be involved in clearing lipophilic odorant molecules from the sensory epithelium. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. This gene shares exon structure with the UDP glucuronosyltransferase 2A2 family member, which encodes N-terminally distinct isoforms. [provided by RefSeq, Jul 2014]

LY6E Gene

lymphocyte antigen 6 complex, locus E

LY6D Gene

lymphocyte antigen 6 complex, locus D

LY6K Gene

lymphocyte antigen 6 complex, locus K

LY6H Gene

lymphocyte antigen 6 complex, locus H

IGL Gene

immunoglobulin lambda locus

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

IGK Gene

immunoglobulin kappa locus

IGH Gene

immunoglobulin heavy locus

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