Name

VAX2 Gene

ventral anterior homeobox 2

This gene encodes a homeobox protein and is almost exclusively expressed in the ventral portion of the retina during development. In mouse studies, this gene was found to be required for the correct formation of the optic fissure and other aspects of retinal development. [provided by RefSeq, Sep 2008]

VAX1 Gene

ventral anterior homeobox 1

This gene encodes a homeo-domain containing protein from a class of homeobox transcription factors which are conserved in vertebrates. Genes of this family are involved in the regulation of body development and morphogenesis. The most conserved genes, called HOX genes are found in special gene clusters. This gene belongs to the VAX subfamily and lies in the vicinity of the EMX homeobox gene family. Another member of VAX family is located on chromosome 2. The encoded protein may play an important role in the development of anterior ventral forebrain and visual system. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

NOVA2 Gene

neuro-oncological ventral antigen 2

NOVA1 Gene

neuro-oncological ventral antigen 1

This gene encodes a neuron-specific RNA-binding protein, a member of the Nova family of paraneoplastic disease antigens, that is recognized and inhibited by paraneoplastic antibodies. These antibodies are found in the sera of patients with paraneoplastic opsoclonus-ataxia, breast cancer, and small cell lung cancer. Alternatively spliced transcripts encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]

LEFTY2 Gene

left-right determination factor 2

This gene encodes a member of the TGF-beta family of proteins. The encoded protein is secreted and plays a role in left-right asymmetry determination of organ systems during development. The protein may also play a role in endometrial bleeding. Mutations in this gene have been associated with left-right axis malformations, particularly in the heart and lungs. Some types of infertility have been associated with dysregulated expression of this gene in the endometrium. Alternative processing of this protein can yield three different products. This gene is closely linked to both a related family member and a related pseudogene. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2010]

LEFTY3 Gene

left-right determination factor 2 pseudogene

LEFTY1 Gene

left-right determination factor 1

This gene encodes a member of the TGF-beta family of proteins. A similar secreted protein in mouse plays a role in left-right asymmetry determination of organ systems during development. Alternative processing of this protein can yield three different products. This gene is closely linked to both a related family member and a related pseudogene. [provided by RefSeq, Jul 2008]

LVNC2 Gene

noncompaction of left ventricular myocardium, familial isolated, autosomal dominant 2

ALS2CR11 Gene

amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11

ALS2CR12 Gene

amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12

PLSA1 Gene

Primary lateral sclerosis, adult, 1

ALS7 Gene

amyotrophic lateral sclerosis 7

ALS5 Gene

amyotrophic lateral sclerosis 5

ALS2 Gene

amyotrophic lateral sclerosis 2 (juvenile)

The protein encoded by this gene contains an ATS1/RCC1-like domain, a RhoGEF domain, and a vacuolar protein sorting 9 (VPS9) domain, all of which are guanine-nucleotide exchange factors that activate members of the Ras superfamily of GTPases. The protein functions as a guanine nucleotide exchange factor for the small GTPase RAB5. The protein localizes with RAB5 on early endosomal compartments, and functions as a modulator for endosomal dynamics. Mutations in this gene result in several forms of juvenile lateral sclerosis and infantile-onset ascending spastic paralysis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]

ALS3 Gene

amyotrophic lateral sclerosis 3 (autosomal dominant)

LOC644462 Gene

amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 2 pseudogene

ART4 Gene

ADP-ribosyltransferase 4 (Dombrock blood group)

This gene encodes a protein that contains a mono-ADP-ribosylation (ART) motif. It is a member of the ADP-ribosyltransferase gene family but enzymatic activity has not been demonstrated experimentally. Antigens of the Dombrock blood group system are located on the gene product, which is glycosylphosphatidylinosotol-anchored to the erythrocyte membrane. Allelic variants, some of which lead to adverse transfusion reactions, are known. [provided by RefSeq, Jul 2008]

LOC105371469 Gene

endogenous retrovirus group K member 8 Gag polyprotein-like

NR1D1 Gene

nuclear receptor subfamily 1, group D, member 1

This gene encodes a transcription factor that is a member of the nuclear receptor subfamily 1. The encoded protein is a ligand-sensitive transcription factor that negatively regulates the expression of core clock proteins. In particular this protein represses the circadian clock transcription factor aryl hydrocarbon receptor nuclear translocator-like protein 1 (ARNTL). This protein may also be involved in regulating genes that function in metabolic, inflammatory and cardiovascular processes. [provided by RefSeq, Jan 2013]

NR1D2 Gene

nuclear receptor subfamily 1, group D, member 2

This gene encodes a member of the nuclear hormone receptor family, specifically the NR1 subfamily of receptors. The encoded protein functions as a transcriptional repressor and may play a role in circadian rhythms and carbohydrate and lipid metabolism. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]

HMGN2P31 Gene

high mobility group nucleosomal binding domain 2 pseudogene 31

HMGB3P5 Gene

high mobility group box 3 pseudogene 5

GCNT2 Gene

glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)

This gene encodes the enzyme responsible for formation of the blood group I antigen. The i and I antigens are distinguished by linear and branched poly-N-acetyllactosaminoglycans, respectively. The encoded protein is the I-branching enzyme, a beta-1,6-N-acetylglucosaminyltransferase responsible for the conversion of fetal i antigen to adult I antigen in erythrocytes during embryonic development. Mutations in this gene have been associated with adult i blood group phenotype. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

PLA2G12AP1 Gene

phospholipase A2, group XIIA pseudogene 1

PLA2G12AP2 Gene

phospholipase A2, group XIIA pseudogene 2

HMGN2P19 Gene

high mobility group nucleosomal binding domain 2 pseudogene 19

HMGN2P18 Gene

high mobility group nucleosomal binding domain 2 pseudogene 18

HMGN2P12 Gene

high mobility group nucleosomal binding domain 2 pseudogene 12

HMGN2P11 Gene

high mobility group nucleosomal binding domain 2 pseudogene 11

HMGN2P10 Gene

high mobility group nucleosomal binding domain 2 pseudogene10

HMGN2P17 Gene

high mobility group nucleosomal binding domain 2 pseudogene 17

HMGN2P16 Gene

high mobility group nucleosomal binding domain 2 pseudogene 16

HMGN2P15 Gene

high mobility group nucleosomal binding domain 2 pseudogene 15

HMGN2P14 Gene

high mobility group nucleosomal binding domain 2 pseudogene14

HMGN1P9 Gene

high mobility group nucleosome binding domain 1 pseudogene

HMGN1P4 Gene

high mobility group nucleosome binding domain 1 pseudogene 4

HMGN1P5 Gene

high mobility group nucleosome binding domain 1 pseudogene 5

HMGN1P6 Gene

high mobility group nucleosome binding domain 1 pseudogene 6

HMGN1P7 Gene

high mobility group nucleosome binding domain 1 pseudogene 7

HMGN1P1 Gene

high mobility group nucleosome binding domain 1 pseudogene 1

HMGN1P2 Gene

high mobility group nucleosome binding domain 1 pseudogene 2

ERVW-28 Gene

endogenous retrovirus group W, member 28

PLA2G6 Gene

phospholipase A2, group VI (cytosolic, calcium-independent)

The protein encoded by this gene is an A2 phospholipase, a class of enzyme that catalyzes the release of fatty acids from phospholipids. The encoded protein may play a role in phospholipid remodelling, arachidonic acid release, leukotriene and prostaglandin synthesis, fas-mediated apoptosis, and transmembrane ion flux in glucose-stimulated B-cells. Several transcript variants encoding multiple isoforms have been described, but the full-length nature of only three of them have been determined to date. [provided by RefSeq, Dec 2010]

PLA2G7 Gene

phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)

The protein encoded by this gene is a secreted enzyme that catalyzes the degradation of platelet-activating factor to biologically inactive products. Defects in this gene are a cause of platelet-activating factor acetylhydrolase deficiency. Two transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Dec 2009]

PLA2G5 Gene

phospholipase A2, group V

This gene is a member of the secretory phospholipase A2 family. It is located in a tightly-linked cluster of secretory phospholipase A2 genes on chromosome 1. The encoded enzyme catalyzes the hydrolysis of membrane phospholipids to generate lysophospholipids and free fatty acids including arachidonic acid. It preferentially hydrolyzes linoleoyl-containing phosphatidylcholine substrates. Secretion of this enzyme is thought to induce inflammatory responses in neighboring cells. Alternatively spliced transcript variants have been found, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]

PLA2G3 Gene

phospholipase A2, group III

This gene encodes a protein that belongs to the secreted phospholipase A2 family, whose members include the bee venom enzyme. The encoded enzyme functions in lipid metabolism and catalyzes the calcium-dependent hydrolysis of the sn-2 acyl bond of phospholipids to release arachidonic acid and lysophospholipids. This enzyme acts as a negative regulator of ciliogenesis, and may play a role in cancer development by stimulating tumor cell growth and angiogenesis. This gene is associated with oxidative stress, and polymorphisms in this gene are linked to risk for Alzheimer's disease. [provided by RefSeq, Apr 2014]

LOC100129956 Gene

high mobility group nucleosomal binding domain 2 pseudogene

LOC100422225 Gene

ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group) pseudogene

GPRC6A Gene

G protein-coupled receptor, class C, group 6, member A

Members of family C of the G protein-coupled receptor (GPCR) superfamily, such as GPRC6A, are characterized by an evolutionarily conserved amino acid-sensing motif linked to an intramembranous 7-transmembrane loop region. Several members of GPCR family C, including GPRC6A, also have a long N-terminal domain (summary by Pi et al., 2005 [PubMed 16199532]).[supplied by OMIM, Nov 2010]

C4B Gene

complement component 4B (Chido blood group)

This gene encodes the basic form of complement factor 4, part of the classical activation pathway. The protein is expressed as a single chain precursor which is proteolytically cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. The trimer provides a surface for interaction between the antigen-antibody complex and other complement components. The alpha chain may be cleaved to release C4 anaphylatoxin, a mediator of local inflammation. Deficiency of this protein is associated with systemic lupus erythematosus. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. Varying haplotypes of this gene cluster exist, such that individuals may have 1, 2, or 3 copies of this gene. In addition, this gene exists as a long form and a short form due to the presence or absence of a 6.4 kb endogenous HERV-K retrovirus in intron 9. [provided by RefSeq, Jul 2008]

PLA2G2A Gene

phospholipase A2, group IIA (platelets, synovial fluid)

The protein encoded by this gene is a member of the phospholipase A2 family (PLA2). PLA2s constitute a diverse family of enzymes with respect to sequence, function, localization, and divalent cation requirements. This gene product belongs to group II, which contains secreted form of PLA2, an extracellular enzyme that has a low molecular mass and requires calcium ions for catalysis. It catalyzes the hydrolysis of the sn-2 fatty acid acyl ester bond of phosphoglycerides, releasing free fatty acids and lysophospholipids, and thought to participate in the regulation of the phospholipid metabolism in biomembranes. Several alternatively spliced transcript variants with different 5' UTRs have been found for this gene.[provided by RefSeq, Sep 2009]

PLA2G2C Gene

phospholipase A2, group IIC

PLA2G2E Gene

phospholipase A2, group IIE

PLA2G2D Gene

phospholipase A2, group IID

This gene encodes a secreted member of the phospholipase A2 family, and is found in a cluster of related family members on chromosome 1. Phospholipase A2 family members hydrolyze the sn-2 fatty acid ester bond of glycerophospholipids to produce lysophospholipids and free fatty acid. This gene may be involved in inflammation and immune response, and in weight loss associated with chronic obstructive pulmonary disease. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2012]

PLA2G2F Gene

phospholipase A2, group IIF

ERVV-1 Gene

endogenous retrovirus group V, member 1

ERVV-2 Gene

endogenous retrovirus group V, member 2

HMGB3 Gene

high mobility group box 3

This gene encodes a member of a family of proteins containing one or more high mobility group DNA-binding motifs. The encoded protein plays an important role in maintaining stem cell populations, and may be aberrantly expressed in tumor cells. A mutation in this gene was associated with microphthalmia, syndromic 13. There are numerous pseudogenes of this gene on multiple chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

HMGB4 Gene

high mobility group box 4

HMGN2P13 Gene

high mobility group nucleosomal binding domain 2 pseudogene 13

ERCC6 Gene

excision repair cross-complementation group 6

This gene encodes a DNA-binding protein that is important in transcription-coupled excision repair. The encoded protein has ATP-stimulated ATPase activity, interacts with several transcription and excision repair proteins, and may promote complex formation at DNA repair sites. Mutations in this gene are associated with Cockayne syndrome type B and cerebrooculofacioskeletal syndrome 1. Naturally-occurring readthrough transcription occurs between this gene and the adjacent PGBD3 gene (GeneID:267004), and results in a fusion protein that shares sequence with the product of each individual gene. The readthrough locus is represented by GeneID:101243544. [provided by RefSeq, Mar 2013]

HMGB1P12 Gene

high mobility group box 1 pseudogene 12

HMGB1P10 Gene

high mobility group box 1 pseudogene 10

HMGB1P16 Gene

high mobility group box 1 pseudogene 16

HMGB1P17 Gene

high mobility group box 1 pseudogene 17

ERVH-2 Gene

endogenous retrovirus group H, member 2

ERVH-3 Gene

endogenous retrovirus group H, member 3

ERVH-1 Gene

endogenous retrovirus group H, member 1

ERVH-6 Gene

endogenous retrovirus group H, member 6

ERVH-4 Gene

endogenous retrovirus group H, member 4

ERVH-5 Gene

endogenous retrovirus group H, member 5

ERVE-3 Gene

endogenous retrovirus group E, member 3

ERVE-1 Gene

endogenous retrovirus group E, member 1

ERVE-4 Gene

endogenous retrovirus group E, member 4

FANCG Gene

Fanconi anemia, complementation group G

The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group G. [provided by RefSeq, Jul 2008]

FANCE Gene

Fanconi anemia, complementation group E

The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group E. [provided by RefSeq, Jul 2008]

FANCC Gene

Fanconi anemia, complementation group C

The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group C. [provided by RefSeq, Jul 2008]

FANCB Gene

Fanconi anemia, complementation group B

The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group B. Alternative splicing results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]

FANCA Gene

Fanconi anemia, complementation group A

The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008]

FANCM Gene

Fanconi anemia, complementation group M

The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group M. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

FANCL Gene

Fanconi anemia, complementation group L

The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group L. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

FANCI Gene

Fanconi anemia, complementation group I

The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group I. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

HMGB1P36 Gene

high mobility group box 1 pseudogene 36

NR5A2 Gene

nuclear receptor subfamily 5, group A, member 2

NR5A1 Gene

nuclear receptor subfamily 5, group A, member 1

The protein encoded by this gene is a transcriptional activator involved in sex determination. The encoded protein binds DNA as a monomer. Defects in this gene are a cause of XY sex reversal with or without adrenal failure as well as adrenocortical insufficiency without ovarian defect. [provided by RefSeq, Jul 2008]

NR6A1 Gene

nuclear receptor subfamily 6, group A, member 1

This gene encodes an orphan nuclear receptor which is a member of the nuclear hormone receptor family. Its expression pattern suggests that it may be involved in neurogenesis and germ cell development. The protein can homodimerize and bind DNA, but in vivo targets have not been identified. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jun 2013]

HCG18 Gene

HLA complex group 18 (non-protein coding)

HMGB3P22 Gene

high mobility group box 3 pseudogene 22

SF Gene

Stoltzfus blood group

PLA2G12B Gene

phospholipase A2, group XIIB

Phospholipase A2 (PLA2) enzymes catalyze hydrolysis of glycolipids to release free fatty acids and lysophospholipids. PLA2G12B belongs to the PLA2 family, but it is catalytically inactive due to an amino acid change in its active site and has altered phospholipid-binding properties (Rouault et al., 2003 [PubMed 14516201]).[supplied by OMIM, Mar 2008]

PLA2G12A Gene

phospholipase A2, group XIIA

Secreted phospholipase A2 (sPLA2) enzymes liberate arachidonic acid from phospholipids for production of eicosanoids and exert a variety of physiologic and pathologic effects. Group XII sPLA2s, such as PLA2G12A, have relatively low specific activity and are structurally and functionally distinct from other sPLA2s (Gelb et al., 2000 [PubMed 11031251]).[supplied by OMIM, Mar 2008]

HCG4P11 Gene

HLA complex group 4 pseudogene 11

HMGN1P8 Gene

high mobility group nucleosome binding domain 1 pseudogene 8

HMGN1P3 Gene

high mobility group nucleosome binding domain 1 pseudogene 3

LOC105372315 Gene

endogenous retrovirus group S71 member 1 Env polyprotein

ERVK-19 Gene

endogenous retrovirus group K, member 19

ERVK-18 Gene

endogenous retrovirus group K, member 18

ERVK-14 Gene

endogenous retrovirus group K, member 14

ERVK-17 Gene

endogenous retrovirus group K, member 17

ERVK-11 Gene

endogenous retrovirus group K, member 11

ERVK-13 Gene

endogenous retrovirus group K, member 13

ERVK-12 Gene

endogenous retrovirus group K, member 12

SLC4A1 Gene

solute carrier family 4 (anion exchanger), member 1 (Diego blood group)

The protein encoded by this gene is part of the anion exchanger (AE) family and is expressed in the erythrocyte plasma membrane, where it functions as a chloride/bicarbonate exchanger involved in carbon dioxide transport from tissues to lungs. The protein comprises two domains that are structurally and functionally distinct. The N-terminal 40kDa domain is located in the cytoplasm and acts as an attachment site for the red cell skeleton by binding ankyrin. The glycosylated C-terminal membrane-associated domain contains 12-14 membrane spanning segments and carries out the stilbene disulphonate-sensitive exchange transport of anions. The cytoplasmic tail at the extreme C-terminus of the membrane domain binds carbonic anhydrase II. The encoded protein associates with the red cell membrane protein glycophorin A and this association promotes the correct folding and translocation of the exchanger. This protein is predominantly dimeric but forms tetramers in the presence of ankyrin. Many mutations in this gene are known in man, and these mutations can lead to two types of disease: destabilization of red cell membrane leading to hereditary spherocytosis, and defective kidney acid secretion leading to distal renal tubular acidosis. Other mutations that do not give rise to disease result in novel blood group antigens, which form the Diego blood group system. Southeast Asian ovalocytosis (SAO, Melanesian ovalocytosis) results from the heterozygous presence of a deletion in the encoded protein and is common in areas where Plasmodium falciparum malaria is endemic. One null mutation in this gene is known, resulting in very severe anemia and nephrocalcinosis. [provided by RefSeq, Jul 2008]

ABCB6 Gene

ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)

The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This half-transporter likely plays a role in mitochondrial function. Localized to 2q26, this gene is considered a candidate gene for lethal neonatal metabolic syndrome, a disorder of mitochondrial function. [provided by RefSeq, Jul 2008]

HMGB1P1 Gene

high mobility group box 1 pseudogene 1

This gene may represent an evolving retropseudogene of the high-mobility group box 1 gene, which has multiple pseudogenes. This gene has an intact open reading frame, where the length of encoded protein is conserved, compared to the high-mobility group box 1 protein. However, due to the lack of conclusive evidence for specific transcription at this location, this locus is currently represented as a pseudogene. [provided by RefSeq, Jan 2010]

HMGB1P3 Gene

high mobility group box 1 pseudogene 3

HMGB1P4 Gene

high mobility group box 1 pseudogene 4

HMGB1P5 Gene

high mobility group box 1 pseudogene 5

HMGN1P16 Gene

high mobility group nucleosome binding domain 1 pseudogene 16

HMGN1P17 Gene

high mobility group nucleosome binding domain 1 pseudogene 17

HMGN1P13 Gene

high mobility group nucleosome binding domain 1 pseudogene 13

HMGN1P10 Gene

high mobility group nucleosome binding domain 1 pseudogene 10

HMGN1P11 Gene

high mobility group nucleosome binding domain 1 pseudogene 11

ERVMER61-1 Gene

endogenous retrovirus group MER61, member 1

LOC102723688 Gene

trithorax group protein osa-like

HMGN1P33 Gene

high mobility group nucleosome binding domain 1 pseudogene 33

HMGN1P34 Gene

high mobility group nucleosome binding domain 1 pseudogene 34

XK Gene

X-linked Kx blood group

This locus controls the synthesis of the Kell blood group 'precursor substance' (Kx). Mutations in this gene have been associated with McLeod syndrome, an X-linked, recessive disorder characterized by abnormalities in the neuromuscular and hematopoietic systems. The encoded protein has structural characteristics of prokaryotic and eukaryotic membrane transport proteins. [provided by RefSeq, Jul 2008]

XG Gene

Xg blood group

This gene encodes the XG blood group antigen, and is located at the pseudoautosomal boundary on the short (p) arm of chromosome X. The three 5' exons reside in the pseudoautosomal region and the remaining exons within the X-specific end. A truncated copy of this gene is found on the Y chromosome at the pseudoautosomal boundary. It is transcribed, but not expected to make a Y-chromosome specific gene product. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]

HCG4 Gene

HLA complex group 4 (non-protein coding)

HCG9 Gene

HLA complex group 9 (non-protein coding)

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

ERCC8 Gene

excision repair cross-complementation group 8

This gene encodes a WD repeat protein, which interacts with Cockayne syndrome type B (CSB) protein and with p44 protein, a subunit of the RNA polymerase II transcription factor IIH. Mutations in this gene have been identified in patients with hereditary disease Cockayne syndrome (CS). CS cells are abnormally sensitive to ultraviolet radiation and are defective in the repair of transcriptionally active genes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014]

ERCC1 Gene

excision repair cross-complementation group 1

The product of this gene functions in the nucleotide excision repair pathway, and is required for the repair of DNA lesions such as those induced by UV light or formed by electrophilic compounds including cisplatin. The encoded protein forms a heterodimer with the XPF endonuclease (also known as ERCC4), and the heterodimeric endonuclease catalyzes the 5' incision in the process of excising the DNA lesion. The heterodimeric endonuclease is also involved in recombinational DNA repair and in the repair of inter-strand crosslinks. Mutations in this gene result in cerebrooculofacioskeletal syndrome, and polymorphisms that alter expression of this gene may play a role in carcinogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. The last exon of this gene overlaps with the CD3e molecule, epsilon associated protein gene on the opposite strand. [provided by RefSeq, Oct 2009]

ERCC2 Gene

excision repair cross-complementation group 2

The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2/TFIIH complex. The gene product has ATP-dependent DNA helicase activity and belongs to the RAD3/XPD subfamily of helicases. Defects in this gene can result in three different disorders, the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]

ERCC3 Gene

excision repair cross-complementation group 3

This gene encodes an ATP-dependent DNA helicase that functions in nucleotide excision repair. The encoded protein is a subunit of basal transcription factor 2 (TFIIH) and, therefore, also functions in class II transcription. Mutations in this gene are associated with Xeroderma pigmentosum B, Cockayne's syndrome, and trichothiodystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

ERCC4 Gene

excision repair cross-complementation group 4

The protein encoded by this gene forms a complex with ERCC1 and is involved in the 5' incision made during nucleotide excision repair. This complex is a structure specific DNA repair endonuclease that interacts with EME1. Defects in this gene are a cause of xeroderma pigmentosum complementation group F (XP-F), or xeroderma pigmentosum VI (XP6).[provided by RefSeq, Mar 2009]

ERCC5 Gene

excision repair cross-complementation group 5

This gene encodes a single-strand specific DNA endonuclease that makes the 3' incision in DNA excision repair following UV-induced damage. The protein may also function in other cellular processes, including RNA polymerase II transcription, and transcription-coupled DNA repair. Mutations in this gene cause xeroderma pigmentosum complementation group G (XP-G), which is also referred to as xeroderma pigmentosum VII (XP7), a skin disorder characterized by hypersensitivity to UV light and increased susceptibility for skin cancer development following UV exposure. Some patients also develop Cockayne syndrome, which is characterized by severe growth defects, mental retardation, and cachexia. Read-through transcription exists between this gene and the neighboring upstream BIVM (basic, immunoglobulin-like variable motif containing) gene. [provided by RefSeq, Feb 2011]

CD55 Gene

CD55 molecule, decay accelerating factor for complement (Cromer blood group)

This gene encodes a glycoprotein involved in the regulation of the complement cascade. Binding of the encoded protein to complement proteins accelerates their decay, thereby disrupting the cascade and preventing damage to host cells. Antigens present on this protein constitute the Cromer blood group system (CROM). Alternative splicing results in multiple transcript variants. The predominant transcript variant encodes a membrane-bound protein, but alternatively spliced transcripts may produce soluble proteins. [provided by RefSeq, Jul 2014]

LOC100422194 Gene

ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group) pseudogene

HMGB3P32 Gene

high mobility group box 3 pseudogene 32

HMGB3P30 Gene

high mobility group box 3 pseudogene 30

HMGB3P31 Gene

high mobility group box 3 pseudogene 31

ERMAP Gene

erythroblast membrane-associated protein (Scianna blood group)

The protein encoded by this gene is a cell surface transmembrane protein that may act as an erythroid cell receptor, possibly as a mediator of cell adhesion. Polymorphisms in this gene are responsible for the Scianna/Radin blood group system. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

HCG25 Gene

HLA complex group 25 (non-protein coding)

HCG27 Gene

HLA complex group 27 (non-protein coding)

ERVI-1 Gene

endogenous retrovirus group I, member 1

LOC105376906 Gene

endogenous retrovirus group K member 19 Pol protein

HCG21 Gene

HLA complex group 21 (non-protein coding)

HCG20 Gene

HLA complex group 20 (non-protein coding)

HCG23 Gene

HLA complex group 23 (non-protein coding)

HCG22 Gene

HLA complex group 22

AQP3 Gene

aquaporin 3 (Gill blood group)

This gene encodes the water channel protein aquaporin 3. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein, also known as aquaporin 0. Aquaporin 3 is localized at the basal lateral membranes of collecting duct cells in the kidney. In addition to its water channel function, aquaporin 3 has been found to facilitate the transport of nonionic small solutes such as urea and glycerol, but to a smaller degree. It has been suggested that water channels can be functionally heterogeneous and possess water and solute permeation mechanisms. [provided by RefSeq, Aug 2011]

LOC401913 Gene

ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) pseudogene

SLC14A1 Gene

solute carrier family 14 (urea transporter), member 1 (Kidd blood group)

The protein encoded by this gene is a membrane transporter that mediates urea transport in erythrocytes. This gene forms the basis for the Kidd blood group system. [provided by RefSeq, Mar 2009]

LOC100631330 Gene

polycomb group ring finger 6 pseudogene

XPC Gene

xeroderma pigmentosum, complementation group C

This gene encodes a component of the nucleotide excision repair (NER) pathway. There are multiple components involved in the NER pathway, including Xeroderma pigmentosum (XP) A-G and V, Cockayne syndrome (CS) A and B, and trichothiodystrophy (TTD) group A, etc. This component, XPC, plays an important role in the early steps of global genome NER, especially in damage recognition, open complex formation, and repair protein complex formation. Mutations in this gene or some other NER components result in Xeroderma pigmentosum, a rare autosomal recessive disorder characterized by increased sensitivity to sunlight with the development of carcinomas at an early age. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]

LOC101929530 Gene

Fanconi anemia group D2 protein-like

ABCG2 Gene

ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)

The membrane-associated protein encoded by this gene is included in the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. Alternatively referred to as a breast cancer resistance protein, this protein functions as a xenobiotic transporter which may play a major role in multi-drug resistance. It likely serves as a cellular defense mechanism in response to mitoxantrone and anthracycline exposure. Significant expression of this protein has been observed in the placenta, which may suggest a potential role for this molecule in placenta tissue. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]

HMGN2P33 Gene

high mobility group nucleosomal binding domain 2 pseudogene 33

HMGN2P32 Gene

high mobility group nucleosomal binding domain 2 pseudogene 32

HMGN2P35 Gene

high mobility group nucleosomal binding domain 2 pseudogene 35

HMGN2P34 Gene

high mobility group nucleosomal binding domain 2 pseudogene 34

HMGN2P37 Gene

high mobility group nucleosomal binding domain 2 pseudogene 37

HMGN2P36 Gene

high mobility group nucleosomal binding domain 2 pseudogene 36

HMGN2P39 Gene

high mobility group nucleosomal binding domain 2 pseudogene 39

HMGN2P38 Gene

high mobility group nucleosomal binding domain 2 pseudogene 38

ERV18-1 Gene

endogenous retrovirus group 18, member 1

HCG9P5 Gene

HLA complex group 9 pseudogene 5

HCG9P3 Gene

HLA complex group 9 pseudogene 3

HCG9P2 Gene

HLA complex group 9 pseudogene 2

NR3C1P1 Gene

nuclear receptor subfamily 3, group C, member 1 pseudogene 1

KEL Gene

Kell blood group, metallo-endopeptidase

This gene encodes a type II transmembrane glycoprotein that is the highly polymorphic Kell blood group antigen. The Kell glycoprotein links via a single disulfide bond to the XK membrane protein that carries the Kx antigen. The encoded protein contains sequence and structural similarity to members of the neprilysin (M13) family of zinc endopeptidases. [provided by RefSeq, Jul 2008]

HMGB1P27 Gene

high mobility group box 1 pseudogene 27

HMGB1P24 Gene

high mobility group box 1 pseudogene 24

HMGB1P22 Gene

high mobility group box 1 pseudogene 22

HMGB1P29 Gene

high mobility group box 1 pseudogene 29

LOC105377813 Gene

endogenous retrovirus group K member 11 Pol protein

PLA2G4C Gene

phospholipase A2, group IVC (cytosolic, calcium-independent)

This gene encodes a protein which is a member of the phospholipase A2 enzyme family which hydrolyzes glycerophospholipids to produce free fatty acids and lysophospholipids, both of which serve as precursors in the production of signaling molecules. The encoded protein has been shown to be a calcium-independent and membrane bound enzyme. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009]

PLA2G4B Gene

phospholipase A2, group IVB (cytosolic)

This gene encodes a member of the cytosolic phospholipase A2 protein family. Phospholipase A2 enzymes hydrolyze the sn-2 bond of phospholipids, releasing lysophospholipids and fatty acids. This enzyme may be associated with mitochondria and early endosomes. Most tissues also express read-through transcripts from the upstream gene into this gene, some of which may encode fusion proteins combining the N-terminus of the upstream gene including its JmjC domain with the almost complete coding region of this gene, including the C2 and cytoplasmic phospholipase A2 domains. [provided by RefSeq, Jul 2008]

PLA2G4A Gene

phospholipase A2, group IVA (cytosolic, calcium-dependent)

This gene encodes a member of the cytosolic phospholipase A2 group IV family. The enzyme catalyzes the hydrolysis of membrane phospholipids to release arachidonic acid which is subsequently metabolized into eicosanoids. Eicosanoids, including prostaglandins and leukotrienes, are lipid-based cellular hormones that regulate hemodynamics, inflammatory responses, and other intracellular pathways. The hydrolysis reaction also produces lysophospholipids that are converted into platelet-activating factor. The enzyme is activated by increased intracellular Ca(2+) levels and phosphorylation, resulting in its translocation from the cytosol and nucleus to perinuclear membrane vesicles. [provided by RefSeq, Jul 2008]

PLA2G4F Gene

phospholipase A2, group IVF

PLA2G4E Gene

phospholipase A2, group IVE

PLA2G4D Gene

phospholipase A2, group IVD (cytosolic)

The phospholipase A2 enzyme family, including PLA2G4D, catalyze the hydrolysis of glycerophospholipids at the sn-2 position and then liberate free fatty acids and lysophospholipids (Chiba et al., 2004 [PubMed 14709560]).[supplied by OMIM, Jun 2009]

LOC100499223 Gene

beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) pseudogene

LOC105373606 Gene

endogenous retrovirus group K member 25 Pol protein-like

3.8-1.4 Gene

HLA complex group 26 (non-protein coding) pseudogene

3.8-1.5 Gene

HLA complex group 26 (non-protein coding) pseudogene

3.8-1.2 Gene

HLA complex group 26 (non-protein coding) pseudogene

ACKR1 Gene

atypical chemokine receptor 1 (Duffy blood group)

The protein encoded by this gene is a glycosylated membrane protein and a non-specific receptor for several chemokines. The encoded protein is the receptor for the human malarial parasites Plasmodium vivax and Plasmodium knowlesi. Polymorphisms in this gene are the basis of the Duffy blood group system. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

SEMA7A Gene

semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)

The protein encoded by this gene binds to cell surfaces through a glycosylphosphatidylinositol (GPI) linkage. The encoded glycoprotein is found on activated lymphocytes and erythrocytes. This protein may be involved in immunomodulatory and neuronal processes. Defects in this gene can result in loss of bone mineral density (BMD). Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009]

NR2E1 Gene

nuclear receptor subfamily 2, group E, member 1

NR2E3 Gene

nuclear receptor subfamily 2, group E, member 3

This protein is part of a large family of nuclear receptor transcription factors involved in signaling pathways. Nuclear receptors have been shown to regulate pathways involved in embryonic development, as well as in maintenance of proper cell function in adults. Members of this family are characterized by discrete domains that function in DNA and ligand binding. This gene encodes a retinal nuclear receptor that is a ligand-dependent transcription factor. Defects in this gene are a cause of enhanced S cone syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

XKRYP6 Gene

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

XKRYP4 Gene

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

XKRYP5 Gene

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

XKRYP2 Gene

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

XKRYP3 Gene

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

XKRYP1 Gene

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

HMGB1P18 Gene

high mobility group box 1 pseudogene 18

HMGB1P19 Gene

high mobility group box 1 pseudogene 19

HMGB1P11 Gene

high mobility group box 1 pseudogene 11

HMGB1P14 Gene

high mobility group box 1 pseudogene 14

HMGB1P15 Gene

high mobility group box 1 pseudogene 15

FUT3 Gene

fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)

The Lewis histo-blood group system comprises a set of fucosylated glycosphingolipids that are synthesized by exocrine epithelial cells and circulate in body fluids. The glycosphingolipids function in embryogenesis, tissue differentiation, tumor metastasis, inflammation, and bacterial adhesion. They are secondarily absorbed to red blood cells giving rise to their Lewis phenotype. This gene is a member of the fucosyltransferase family, which catalyzes the addition of fucose to precursor polysaccharides in the last step of Lewis antigen biosynthesis. It encodes an enzyme with alpha(1,3)-fucosyltransferase and alpha(1,4)-fucosyltransferase activities. Mutations in this gene are responsible for the majority of Lewis antigen-negative phenotypes. Multiple alternatively spliced variants, encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]

FUT1 Gene

fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)

The protein encoded by this gene is a Golgi stack membrane protein that is involved in the creation of a precursor of the H antigen, which is required for the final step in the soluble A and B antigen synthesis pathway. This gene is one of two encoding the galactoside 2-L-fucosyltransferase enzyme. Mutations in this gene are a cause of the H-Bombay blood group. [provided by RefSeq, Jul 2008]

ERVPABLB-1 Gene

endogenous retrovirus group PABLB, member 1

AQP1 Gene

aquaporin 1 (Colton blood group)

Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). This gene encodes an aquaporin which functions as a molecular water channel protein. It is a homotetramer with 6 bilayer spanning domains and N-glycosylation sites. The protein physically resembles channel proteins and is abundant in erythrocytes and renal tubes. The gene encoding this aquaporin is a possible candidate for disorders involving imbalance in ocular fluid movement. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]

SMIM1 Gene

small integral membrane protein 1 (Vel blood group)

This gene encodes a small, conserved protein that participates in red blood cell formation. The encoded protein is localized to the cell membrane and is the antigen for the Vel blood group. Alternative splicing results in different transcript variants that encode the same protein. [provided by RefSeq, Dec 2013]

ERV9-1 Gene

endogenous retrovirus group 9, member 1

LOC100533842 Gene

ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group) pseudogene

HMGB2 Gene

high mobility group box 2

This gene encodes a member of the non-histone chromosomal high mobility group protein family. The proteins of this family are chromatin-associated and ubiquitously distributed in the nucleus of higher eukaryotic cells. In vitro studies have demonstrated that this protein is able to efficiently bend DNA and form DNA circles. These studies suggest a role in facilitating cooperative interactions between cis-acting proteins by promoting DNA flexibility. This protein was also reported to be involved in the final ligation step in DNA end-joining processes of DNA double-strand breaks repair and V(D)J recombination. [provided by RefSeq, Jul 2008]

HMGB1 Gene

high mobility group box 1

LOC100420347 Gene

polycomb group ring finger 3 pseudogene

ERCC6L Gene

excision repair cross-complementation group 6-like

HMGN3P1 Gene

high mobility group nucleosomal binding domain 3 pseudogene 1

GPRC5D Gene

G protein-coupled receptor, class C, group 5, member D

The protein encoded by this gene is a member of the G protein-coupled receptor family; however, the specific function of this gene has not yet been determined. [provided by RefSeq, Jul 2008]

GPRC5A Gene

G protein-coupled receptor, class C, group 5, member A

This gene encodes a member of the type 3 G protein-coupling receptor family, characterized by the signature 7-transmembrane domain motif. The encoded protein may be involved in interaction between retinoid acid and G protein signalling pathways. Retinoic acid plays a critical role in development, cellular growth, and differentiation. This gene may play a role in embryonic development and epithelial cell differentiation. [provided by RefSeq, Jul 2008]

GPRC5C Gene

G protein-coupled receptor, class C, group 5, member C

The protein encoded by this gene is a member of the type 3 G protein-coupled receptor family. Members of this superfamily are characterized by a signature 7-transmembrane domain motif. The specific function of this protein is unknown; however, this protein may mediate the cellular effects of retinoic acid on the G protein signal transduction cascade. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

PLA2G1B Gene

phospholipase A2, group IB (pancreas)

This gene encodes a secreted member of the phospholipase A2 (PLA2) class of enzymes, which is produced by the pancreatic acinar cells. The encoded calcium-dependent enzyme catalyzes the hydrolysis of the sn-2 position of membrane glycerophospholipids to release arachidonic acid (AA) and lysophospholipids. AA is subsequently converted by downstream metabolic enzymes to several bioactive lipophilic compounds (eicosanoids), including prostaglandins (PGs) and leukotrienes (LTs). The enzyme may be involved in several physiological processes including cell contraction, cell proliferation and pathological response. [provided by RefSeq, Aug 2013]

LAG5 Gene

Leukocyte antigen group 5

HMGB1P45 Gene

high mobility group box 1 pseudogene 45

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]

LOC100887077 Gene

endogenous retrovirus group 3, member 1 pseudogene

LOC100887078 Gene

endogenous retrovirus group 3, member 1 pseudogene

HMGA2 Gene

high mobility group AT-hook 2

This gene encodes a protein that belongs to the non-histone chromosomal high mobility group (HMG) protein family. HMG proteins function as architectural factors and are essential components of the enhancesome. This protein contains structural DNA-binding domains and may act as a transcriptional regulating factor. Identification of the deletion, amplification, and rearrangement of this gene that are associated with myxoid liposarcoma suggests a role in adipogenesis and mesenchymal differentiation. A gene knock out study of the mouse counterpart demonstrated that this gene is involved in diet-induced obesity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

HCG4P1 Gene

HLA complex group 4 pseudogene 1

HCG4P2 Gene

HLA complex group 4 pseudogene 2

HCG4P3 Gene

HLA complex group 4 pseudogene 3

HCG4P4 Gene

HLA complex group 4 pseudogene 4

HCG4P5 Gene

HLA complex group 4 pseudogene 5

HCG4P7 Gene

HLA complex group 4 pseudogene 7

HCG4P8 Gene

HLA complex group 4 pseudogene 8

HCG4P9 Gene

HLA complex group 4 pseudogene 9

HCG24 Gene

HLA complex group 24 (non-protein coding)

HCG26 Gene

HLA complex group 26 (non-protein coding)

ERVS71-1 Gene

endogenous retrovirus group S71, member 1

GPRC5B Gene

G protein-coupled receptor, class C, group 5, member B

This gene encodes a member of the type 3 G protein-coupled receptor family. Members of this superfamily are characterized by a signature 7-transmembrane domain motif. The encoded protein may modulate insulin secretion and increased protein expression is associated with type 2 diabetes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]

NR2F6 Gene

nuclear receptor subfamily 2, group F, member 6

NR2F1 Gene

nuclear receptor subfamily 2, group F, member 1

The protein encoded by this gene is a nuclear hormone receptor and transcriptional regulator. The encoded protein acts as a homodimer and binds to 5'-AGGTCA-3' repeats. Defects in this gene are a cause of Bosch-Boonstra optic atrophy syndrome (BBOAS). [provided by RefSeq, Apr 2014]

NR2F2 Gene

nuclear receptor subfamily 2, group F, member 2

This gene encodes a member of the steroid thyroid hormone superfamily of nuclear receptors. The encoded protein is a ligand inducible transcription factor that is involved in the regulation of many different genes. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]

HMGB1P41 Gene

high mobility group box 1 pseudogene 41

HMGB1P40 Gene

high mobility group box 1 pseudogene 40

HMGB1P44 Gene

high mobility group box 1 pseudogene 44

HMGB1P47 Gene

high mobility group box 1 pseudogene 47

HMGB1P49 Gene

high mobility group box 1 pseudogene 49

HMGB1P48 Gene

high mobility group box 1 pseudogene 48

ERVH-7 Gene

endogenous retrovirus group H, member 7

PLA2G15 Gene

phospholipase A2, group XV

Lysophospholipases are enzymes that act on biological membranes to regulate the multifunctional lysophospholipids. The protein encoded by this gene hydrolyzes lysophosphatidylcholine to glycerophosphorylcholine and a free fatty acid. This enzyme is present in the plasma and thought to be associated with high-density lipoprotein. A later paper contradicts the function of this gene. It demonstrates that this gene encodes a lysosomal enzyme instead of a lysophospholipase and has both calcium-independent phospholipase A2 and transacylase activities. [provided by RefSeq, Jul 2008]

PLA2G10 Gene

phospholipase A2, group X

NR4A2 Gene

nuclear receptor subfamily 4, group A, member 2

This gene encodes a member of the steroid-thyroid hormone-retinoid receptor superfamily. The encoded protein may act as a transcription factor. Mutations in this gene have been associated with disorders related to dopaminergic dysfunction, including Parkinson disease, schizophernia, and manic depression. Misregulation of this gene may be associated with rheumatoid arthritis. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

NR4A3 Gene

nuclear receptor subfamily 4, group A, member 3

This gene encodes a member of the steroid-thyroid hormone-retinoid receptor superfamily. The encoded protein may act as a transcriptional activator. The protein can efficiently bind the NGFI-B Response Element (NBRE). Three different versions of extraskeletal myxoid chondrosarcomas (EMCs) are the result of reciprocal translocations between this gene and other genes. The translocation breakpoints are associated with Nuclear Receptor Subfamily 4, Group A, Member 3 (on chromosome 9) and either Ewing Sarcome Breakpoint Region 1 (on chromosome 22), RNA Polymerase II, TATA Box-Binding Protein-Associated Factor, 68-KD (on chromosome 17), or Transcription factor 12 (on chromosome 15). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]

NR4A1 Gene

nuclear receptor subfamily 4, group A, member 1

This gene encodes a member of the steroid-thyroid hormone-retinoid receptor superfamily. Expression is induced by phytohemagglutinin in human lymphocytes and by serum stimulation of arrested fibroblasts. The encoded protein acts as a nuclear transcription factor. Translocation of the protein from the nucleus to mitochondria induces apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]

ERVK-20 Gene

endogenous retrovirus group K, member 20

ERVK-21 Gene

endogenous retrovirus group K, member 21

ERVK-22 Gene

endogenous retrovirus group K, member 22

ERVK-23 Gene

endogenous retrovirus group K, member 23

ERVK-24 Gene

endogenous retrovirus group K, member 24

ERVK-26 Gene

endogenous retrovirus group K, member 26

ERVE-2 Gene

endogenous retrovirus group E, member 2

HMGN1P23 Gene

high mobility group nucleosome binding domain 1 pseudogene 23

HMGN1P22 Gene

high mobility group nucleosome binding domain 1 pseudogene 22

HMGN1P21 Gene

high mobility group nucleosome binding domain 1 pseudogene 21

HMGN1P27 Gene

high mobility group nucleosome binding domain 1 pseudogene 27

HMGN1P26 Gene

high mobility group nucleosome binding domain 1 pseudogene 26

HMGN1P25 Gene

high mobility group nucleosome binding domain 1 pseudogene 25

HMGN1P24 Gene

high mobility group nucleosome binding domain 1 pseudogene 24

HMGN1P29 Gene

high mobility group nucleosome binding domain 1 pseudogene 29

HMGN1P28 Gene

high mobility group nucleosome binding domain 1 pseudogene 28

PLA2G16 Gene

phospholipase A2, group XVI

LOC101929766 Gene

endogenous retrovirus group V member 2 Env polyprotein-like

HMGB3P2 Gene

high mobility group box 3 pseudogene 2

HMGB3P3 Gene

high mobility group box 3 pseudogene 3

HMGB3P1 Gene

high mobility group box 3 pseudogene 1

HMGB3P6 Gene

high mobility group box 3 pseudogene 6

HMGB3P7 Gene

high mobility group box 3 pseudogene 7

HMGB3P4 Gene

high mobility group box 3 pseudogene 4

HMGB3P8 Gene

high mobility group box 3 pseudogene 8

HMGB3P9 Gene

high mobility group box 3 pseudogene 9

XPA Gene

xeroderma pigmentosum, complementation group A

This gene encodes a zinc finger protein involved in DNA excision repair. The encoded protein is part of the NER (nucleotide excision repair) complext which is responsible for repair of UV radiation-induced photoproducts and DNA adducts induced by chemical carcinogens. Mutations in this gene are associated with xeroderma pigmentosum complementation group A. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]

HMG20A Gene

high mobility group 20A

HMG20B Gene

high mobility group 20B

LOC105374013 Gene

endogenous retrovirus group K member 5 Gag polyprotein

HMGA1P4 Gene

high mobility group AT-hook 1 pseudogene 4

HMGA1P6 Gene

high mobility group AT-hook 1 pseudogene 6

ERVFC1-1 Gene

endogenous retrovirus group FC1, member 1

RHD Gene

Rh blood group, D antigen

The Rh blood group system is the second most clinically significant of the blood groups, second only to ABO. It is also the most polymorphic of the blood groups, with variations due to deletions, gene conversions, and missense mutations. The Rh blood group includes this gene, which encodes the RhD protein, and a second gene that encodes both the RhC and RhE antigens on a single polypeptide. The two genes, and a third unrelated gene, are found in a cluster on chromosome 1. The classification of Rh-positive and Rh-negative individuals is determined by the presence or absence of the highly immunogenic RhD protein on the surface of erythrocytes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

HMGB1P34 Gene

high mobility group box 1 pseudogene 34

HMGB1P37 Gene

high mobility group box 1 pseudogene 37

HMGB1P30 Gene

high mobility group box 1 pseudogene 30

HMGB1P38 Gene

high mobility group box 1 pseudogene 38

HMGB1P39 Gene

high mobility group box 1 pseudogene 39

HMGN1P35 Gene

high mobility group nucleosome binding domain 1 pseudogene 35

PCGF1 Gene

polycomb group ring finger 1

PCGF1 is a mammalian homolog of the Drosophila polycomb group genes, which act as transcriptional repressors to regulate anterior-posterior patterning in early embryonic development (Nunes et al., 2001 [PubMed 11287196]). See also PCGF2 (MIM 600346).[supplied by OMIM, Aug 2008]

PCGF3 Gene

polycomb group ring finger 3

The protein encoded by this gene contains a C3HC4 type RING finger, which is a motif known to be involved in protein-protein interactions. The specific function of this protein has not yet been determined. [provided by RefSeq, Jul 2008]

PCGF2 Gene

polycomb group ring finger 2

The protein encoded by this gene contains a RING finger motif and is similar to the polycomb group (PcG) gene products. PcG gene products form complexes via protein-protein interaction and maintain the transcription repression of genes involved in embryogenesis, cell cycles, and tumorigenesis. This protein was shown to act as a negative regulator of transcription and has tumor suppressor activity. The expression of this gene was detected in various tumor cells, but is limited in neural organs in normal tissues. Knockout studies in mice suggested that this protein may negatively regulate the expression of different cytokines, chemokines, and chemokine receptors, and thus plays an important role in lymphocyte differentiation and migration, as well as in immune responses. [provided by RefSeq, Jul 2008]

PCGF5 Gene

polycomb group ring finger 5

PCGF6 Gene

polycomb group ring finger 6

The protein encoded by this gene contains a RING finger motif, which is most closely related to those of polycomb group (PcG) proteins RNF110/MEL-18 and BMI1. PcG proteins are known to form protein complexes and function as transcription repressors. This protein has been shown to interact with some PcG proteins and act as a transcription repressor. The activity of this protein is found to be regulated by cell cycle dependent phosphorylation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

HMGB1P35 Gene

high mobility group box 1 pseudogene 35

HMGB1P31 Gene

high mobility group box 1 pseudogene 31

HMGB1P32 Gene

high mobility group box 1 pseudogene 32

HMGN5 Gene

high mobility group nucleosome binding domain 5

This gene encodes a nuclear protein with similarities to the high mobility group proteins, HMG14 and HMG17, which suggests that this protein may function as a nucleosomal binding and transcriptional activating protein. [provided by RefSeq, Sep 2009]

HMGN4 Gene

high mobility group nucleosomal binding domain 4

The protein encoded by this gene, a member of the HMGN protein family, is thought to reduce the compactness of the chromatin fiber in nucleosomes, thereby enhancing transcription from chromatin templates. [provided by RefSeq, Mar 2013]

HMGN3 Gene

high mobility group nucleosomal binding domain 3

Thyroid hormone receptors are hormone-dependent transcription factors that regulate expression of a variety of specific target genes. The protein encoded by this gene binds thyroid hormone receptor beta, but only in the presence of thyroid hormone. The encoded protein, a member of the HMGN protein family, is thought to reduce the compactness of the chromatin fiber in nucleosomes, thereby enhancing transcription from chromatin templates. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]

HMGN2 Gene

high mobility group nucleosomal binding domain 2

The protein encoded by this gene binds nucleosomal DNA and is associated with transcriptionally active chromatin. Along with a similar protein, HMGN1, the encoded protein may help maintain an open chromatin configuration around transcribable genes. The protein has also been found to have antimicrobial activity against bacteria, viruses and fungi. [provided by RefSeq, Oct 2014]

HMGN1 Gene

high mobility group nucleosome binding domain 1

The protein encoded by this gene binds nucleosomal DNA and is associated with transcriptionally active chromatin. Along with a similar protein, HMG17, the encoded protein may help maintain an open chromatin configuration around transcribable genes. [provided by RefSeq, Aug 2011]

HCG15 Gene

HLA complex group 15 (non-protein coding)

HCG11 Gene

HLA complex group 11 (non-protein coding)

CR1 Gene

complement component (3b/4b) receptor 1 (Knops blood group)

This gene is a member of the receptors of complement activation (RCA) family and is located in the 'cluster RCA' region of chromosome 1. The gene encodes a monomeric single-pass type I membrane glycoprotein found on erythrocytes, leukocytes, glomerular podocytes, and splenic follicular dendritic cells. The Knops blood group system is a system of antigens located on this protein. The protein mediates cellular binding to particles and immune complexes that have activated complement. Decreases in expression of this protein and/or mutations in its gene have been associated with gallbladder carcinomas, mesangiocapillary glomerulonephritis, systemic lupus erythematosus and sarcoidosis. Mutations in this gene have also been associated with a reduction in Plasmodium falciparum rosetting, conferring protection against severe malaria. Alternate allele-specific splice variants, encoding different isoforms, have been characterized. Additional allele specific isoforms, including a secreted form, have been described but have not been fully characterized. [provided by RefSeq, Jul 2008]

HCG19P Gene

HLA complex group 19 pseudogene

CD151 Gene

CD151 molecule (Raph blood group)

The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins and other transmembrane 4 superfamily proteins. It is involved in cellular processes including cell adhesion and may regulate integrin trafficking and/or function. This protein enhances cell motility, invasion and metastasis of cancer cells. Multiple alternatively spliced transcript variants that encode the same protein have been described for this gene. [provided by RefSeq, Jul 2008]

B3GALNT1 Gene

beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)

This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). The encoded protein of this gene does not use N-acetylglucosamine as an acceptor sugar at all. Multiple transcript variants that are alternatively spliced in the 5' UTR have been described; they all encode the same protein. [provided by RefSeq, Jul 2008]

BSG Gene

basigin (Ok blood group)

The protein encoded by this gene is a plasma membrane protein that is important in spermatogenesis, embryo implantation, neural network formation, and tumor progression. The encoded protein is also a member of the immunoglobulin superfamily. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

HMGA1P8 Gene

high mobility group AT-hook 1 pseudogene 8 (functional)

HMGA1P5 Gene

high mobility group AT-hook 1 pseudogene 5

HMGA1P7 Gene

high mobility group AT-hook 1 pseudogene 7

HMGA1P1 Gene

high mobility group AT-hook 1 pseudogene 1

HMGA1P3 Gene

high mobility group AT-hook 1 pseudogene 3

HMGA1P2 Gene

high mobility group AT-hook 1 pseudogene 2

HMGB1P33 Gene

high mobility group box 1 pseudogene 33

NR2C2 Gene

nuclear receptor subfamily 2, group C, member 2

This gene encodes a protein that belongs to the nuclear hormone receptor family. Members of this family act as ligand-activated transcription factors and function in many biological processes such as development, cellular differentiation and homeostasis. The activated receptor/ligand complex is translocated to the nucleus where it binds to hormone response elements of target genes. The protein encoded by this gene plays a role in protecting cells from oxidative stress and damage induced by ionizing radiation. The lack of a similar gene in mouse results in growth retardation, severe spinal curvature, subfertility, premature aging, and prostatic intraepithelial neoplasia (PIN) development. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2014]

NR2C1 Gene

nuclear receptor subfamily 2, group C, member 1

This gene encodes a nuclear hormone receptor characterized by a highly conserved DNA binding domain (DBD), a variable hinge region, and a carboxy-terminal ligand binding domain (LBD) that is typical for all members of the steroid/thyroid hormone receptor superfamily. This protein also belongs to a large family of ligand-inducible transcription factors that regulate gene expression by binding to specific DNA sequences within promoters of target genes. Multiple alternatively spliced transcript variants have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]

SEC1P Gene

secretory blood group 1, pseudogene

GYPA Gene

glycophorin A (MNS blood group)

Glycophorins A (GYPA) and B (GYPB) are major sialoglycoproteins of the human erythrocyte membrane which bear the antigenic determinants for the MN and Ss blood groups. In addition to the M or N and S or s antigens that commonly occur in all populations, about 40 related variant phenotypes have been identified. These variants include all the variants of the Miltenberger complex and several isoforms of Sta, as well as Dantu, Sat, He, Mg, and deletion variants Ena, S-s-U- and Mk. Most of the variants are the result of gene recombinations between GYPA and GYPB. [provided by RefSeq, Jul 2008]

GYPB Gene

glycophorin B (MNS blood group)

Glycophorins A (GYPA) and B (GYPB) are major sialoglycoproteins of the human erythrocyte membrane which bear the antigenic determinants for the MN and Ss blood groups. GYPB gene consists of 5 exons and has 97% sequence homology with GYPA from the 5' UTR to the coding sequence encoding the first 45 amino acids. In addition to the M or N and S or s antigens, that commonly occur in all populations, about 40 related variant phenotypes have been identified. These variants include all the variants of the Miltenberger complex and several isoforms of Sta; also, Dantu, Sat, He, Mg, and deletion variants Ena, S-s-U- and Mk. Most of the variants are the result of gene recombinations between GYPA and GYPB. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]

GYPC Gene

glycophorin C (Gerbich blood group)

Glycophorin C (GYPC) is an integral membrane glycoprotein. It is a minor species carried by human erythrocytes, but plays an important role in regulating the mechanical stability of red cells. A number of glycophorin C mutations have been described. The Gerbich and Yus phenotypes are due to deletion of exon 3 and 2, respectively. The Webb and Duch antigens, also known as glycophorin D, result from single point mutations of the glycophorin C gene. The glycophorin C protein has very little homology with glycophorins A and B. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]

GYPE Gene

glycophorin E (MNS blood group)

The protein encoded by this gene is a sialoglycoprotein and a type I membrane protein. It is a member of a gene family with GPA and GPB genes. This encoded protein might carry the M blood group antigen. GYPA, GYPB, and GYPE are organized in tandem on chromosome 4. This gene might have derived from an ancestral gene common to the GPB gene by gene duplication. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2008]

FANCD2 Gene

Fanconi anemia, complementation group D2

The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group D2. This protein is monoubiquinated in response to DNA damage, resulting in its localization to nuclear foci with other proteins (BRCA1 AND BRCA2) involved in homology-directed DNA repair. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

HMGA1 Gene

high mobility group AT-hook 1

This gene encodes a non-histone protein involved in many cellular processes, including regulation of inducible gene transcription, integration of retroviruses into chromosomes, and the metastatic progression of cancer cells. The encoded protein preferentially binds to the minor groove of A+T-rich regions in double-stranded DNA. It has little secondary structure in solution but assumes distinct conformations when bound to substrates such as DNA or other proteins. The encoded protein is frequently acetylated and is found in the nucleus. At least seven transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

XKR9 Gene

XK, Kell blood group complex subunit-related family, member 9

XKR8 Gene

XK, Kell blood group complex subunit-related family, member 8

LOC100422434 Gene

complement component (3b/4b) receptor 1 (Knops blood group) pseudogene

HMGN2P30 Gene

high mobility group nucleosomal binding domain 2 pseudogene 30

ERVK-9 Gene

endogenous retrovirus group K, member 9

ERVK-8 Gene

endogenous retrovirus group K, member 8

ERVK-1 Gene

endogenous retrovirus group K, member 1

ERVK-3 Gene

endogenous retrovirus group K, member 3

ERVK-5 Gene

endogenous retrovirus group K, member 5

ERVK-4 Gene

endogenous retrovirus group K, member 4

ERVK-7 Gene

endogenous retrovirus group K, member 7

ERVK-6 Gene

endogenous retrovirus group K, member 6

ERVFH21-1 Gene

endogenous retrovirus group FH21, member 1

HMGN2P26 Gene

high mobility group nucleosomal binding domain 2 pseudogene 26

HMGN2P27 Gene

high mobility group nucleosomal binding domain 2 pseudogene 27

HMGN2P22 Gene

high mobility group nucleosomal binding domain 2 pseudogene 22

HMGN2P23 Gene

high mobility group nucleosomal binding domain 2 pseudogene 23

HMGN2P20 Gene

high mobility group nucleosomal binding domain 2 pseudogene 20

HMGN2P21 Gene

high mobility group nucleosomal binding domain 2 pseudogene 21

ERVK3-3 Gene

endogenous retrovirus group K3, member 3

ERVK3-2 Gene

endogenous retrovirus group K3, member 2

ERVK3-1 Gene

endogenous retrovirus group K3, member 1

ERVK3-6 Gene

endogenous retrovirus group K3, member 6

ERVK3-8 Gene

endogenous retrovirus group K3, member 8

HMGN2P7 Gene

high mobility group nucleosomal binding domain 2 pseudogene 7

HMGN2P6 Gene

high mobility group nucleosomal binding domain 2 pseudogene 6

HMGN2P5 Gene

high mobility group nucleosomal binding domain 2 pseudogene 5

HMGN2P3 Gene

high mobility group nucleosomal binding domain 2 pseudogene 3

HMGN2P2 Gene

high mobility group nucleosomal binding domain 2 pseudogene 2

HMGN2P1 Gene

high mobility group nucleosomal binding domain 2 pseudogene 1

HMGN2P9 Gene

high mobility group nucleosomal binding domain 2 pseudogene 9

HCG9P1 Gene

HLA complex group 9 pseudogene 1

C4B_2 Gene

complement component 4B (Chido blood group), copy 2

This gene encodes the basic form of complement factor 4, part of the classical activation pathway. The protein is expressed as a single chain precursor which is proteolytically cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. The trimer provides a surface for interaction between the antigen-antibody complex and other complement components. The alpha chain may be cleaved to release C4 anaphylatoxin, a mediator of local inflammation. Deficiency of this protein is associated with systemic lupus erythematosus. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. Varying haplotypes of this gene cluster exist, such that individuals may have 1, 2, or 3 copies of this gene. In addition, this gene exists as a long form and a short form due to the presence or absence of a 6.4 kb endogenous HERV-K retrovirus in intron 9. This GeneID and its associated RefSeq record represent a second copy of C4B found on ALT_REF_LOCI_7. [provided by RefSeq, Jul 2011]

HMGB1P26 Gene

high mobility group box 1 pseudogene 26

HMGB1P23 Gene

high mobility group box 1 pseudogene 23

ERVK-15 Gene

endogenous retrovirus group K, member 15

HMGB1P28 Gene

high mobility group box 1 pseudogene 28

C4A Gene

complement component 4A (Rodgers blood group)

This gene encodes the acidic form of complement factor 4, part of the classical activation pathway. The protein is expressed as a single chain precursor which is proteolytically cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. The trimer provides a surface for interaction between the antigen-antibody complex and other complement components. The alpha chain is cleaved to release C4 anaphylatoxin, an antimicrobial peptide and a mediator of local inflammation. Deficiency of this protein is associated with systemic lupus erythematosus and type I diabetes mellitus. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. Varying haplotypes of this gene cluster exist, such that individuals may have 1, 2, or 3 copies of this gene. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]

ERVK-16 Gene

endogenous retrovirus group K, member 16

NR1H5P Gene

nuclear receptor subfamily 1, group H, member 5, pseudogene

ERVK13-1 Gene

endogenous retrovirus group K13, member 1

PCGF7P Gene

polycomb group ring finger 7 pseudogene

ERVK11-1 Gene

endogenous retrovirus group K11, member 1

ERV3-1 Gene

endogenous retrovirus group 3, member 1

The human genome includes many retroelements including the human endogenous retroviruses (HERVs). ERV3, one of the most studied HERVs, is thought to have integrated 30 to 40 million years ago and is present in higher primates with the exception of gorillas. Taken together, the observation of genome conservation, the detection of transcript expression, and the presence of conserved ORFs is circumstantial evidence for a functional role. A functional role is also suggested by the observation that downregulation of ERV3 is reported in choriocarcinoma. [provided by RefSeq, Jul 2008]

ERV3-2 Gene

endogenous retrovirus group 3, member 2

HMGB1P8 Gene

high mobility group box 1 pseudogene 8

HMGB1P9 Gene

high mobility group box 1 pseudogene 9

ERVS71-2 Gene

endogenous retrovirus group S71, member 2

HMGN1P14 Gene

high mobility group nucleosome binding domain 1 pseudogene 14

HMGN1P15 Gene

high mobility group nucleosome binding domain 1 pseudogene 15

HMGN1P19 Gene

high mobility group nucleosome binding domain 1 pseudogene 19

LOC105376387 Gene

endogenous retrovirus group K member 7 Env polyprotein-like

HMGB1P25 Gene

high mobility group box 1 pseudogene 25

HMGB1P21 Gene

high mobility group box 1 pseudogene 21

HMGB1P20 Gene

high mobility group box 1 pseudogene 20

XKRY2 Gene

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

This gene is located in the nonrecombining portion of the Y chromosome, and is expressed specifically in testis. It encodes a protein which is similar to XK (X-linked Kell blood group precursor), a putative membrane transport protein. This gene is present as two identical copies within a palindromic region; this record represents the more telomeric copy. [provided by RefSeq, Jul 2008]

NR1H4 Gene

nuclear receptor subfamily 1, group H, member 4

This gene encodes a ligand-activated transcription factor, which shares structural features in common with nuclear hormone receptor family, such as a DNA-binding domain that targets the receptor to specific DNA sequences, and a ligand-binding domain, which interacts directly with the ligand and contains a ligand-dependent transcriptional activation domain. This protein functions as a receptor for bile acids, and when bound to bile acids, regulates the expression of genes involved in bile acid synthesis and transport. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]

NR1H2 Gene

nuclear receptor subfamily 1, group H, member 2

The liver X receptors, LXRA (NR1H3; MIM 602423) and LXRB, form a subfamily of the nuclear receptor superfamily and are key regulators of macrophage function, controlling transcriptional programs involved in lipid homeostasis and inflammation. The inducible LXRA is highly expressed in liver, adrenal gland, intestine, adipose tissue, macrophages, lung, and kidney, whereas LXRB is ubiquitously expressed. Ligand-activated LXRs form obligate heterodimers with retinoid X receptors (RXRs; see MIM 180245) and regulate expression of target genes containing LXR response elements (summary by Korf et al., 2009 [PubMed 19436111]).[supplied by OMIM, Jan 2010]

ERVK-2 Gene

endogenous retrovirus group K, member 2

NR3C2 Gene

nuclear receptor subfamily 3, group C, member 2

This gene encodes the mineralocorticoid receptor, which mediates aldosterone actions on salt and water balance within restricted target cells. The protein functions as a ligand-dependent transcription factor that binds to mineralocorticoid response elements in order to transactivate target genes. Mutations in this gene cause autosomal dominant pseudohypoaldosteronism type I, a disorder characterized by urinary salt wasting. Defects in this gene are also associated with early onset hypertension with severe exacerbation in pregnancy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

NR3C1 Gene

nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)

This gene encodes glucocorticoid receptor, which can function both as a transcription factor that binds to glucocorticoid response elements in the promoters of glucocorticoid responsive genes to activate their transcription, and as a regulator of other transcription factors. This receptor is typically found in the cytoplasm, but upon ligand binding, is transported into the nucleus. It is involved in inflammatory responses, cellular proliferation, and differentiation in target tissues. Mutations in this gene are associated with generalized glucocorticoid resistance. Alternative splicing of this gene results in transcript variants encoding either the same or different isoforms. Additional isoforms resulting from the use of alternate in-frame translation initiation sites have also been described, and shown to be functional, displaying diverse cytoplasm-to-nucleus trafficking patterns and distinct transcriptional activities (PMID:15866175). [provided by RefSeq, Feb 2011]

LOC105369153 Gene

endogenous retrovirus group K member 25 Env polyprotein-like

HMGB1P43 Gene

high mobility group box 1 pseudogene 43

HMGB1P42 Gene

high mobility group box 1 pseudogene 42

HMGB1P46 Gene

high mobility group box 1 pseudogene 46

NR1H3 Gene

nuclear receptor subfamily 1, group H, member 3

The protein encoded by this gene belongs to the NR1 subfamily of the nuclear receptor superfamily. The NR1 family members are key regulators of macrophage function, controlling transcriptional programs involved in lipid homeostasis and inflammation. This protein is highly expressed in visceral organs, including liver, kidney and intestine. It forms a heterodimer with retinoid X receptor (RXR), and regulates expression of target genes containing retinoid response elements. Studies in mice lacking this gene suggest that it may play an important role in the regulation of cholesterol homeostasis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

LOC100652777 Gene

group 10 secretory phospholipase A2-like

ERVK3-4 Gene

endogenous retrovirus group K3, member 4

HMGB2P1 Gene

high mobility group box 2 pseudogene 1

HMGN1P18 Gene

high mobility group nucleosome binding domain 1 pseudogene 18

ERVMER34-1 Gene

endogenous retrovirus group MER34, member 1

HCG16 Gene

HLA complex group 16 (non-protein coding)

HMGB1P13 Gene

high mobility group box 1 pseudogene 13

ACHE Gene

acetylcholinesterase (Yt blood group)

Acetylcholinesterase hydrolyzes the neurotransmitter, acetylcholine at neuromuscular junctions and brain cholinergic synapses, and thus terminates signal transmission. It is also found on the red blood cell membranes, where it constitutes the Yt blood group antigen. Acetylcholinesterase exists in multiple molecular forms which possess similar catalytic properties, but differ in their oligomeric assembly and mode of cell attachment to the cell surface. It is encoded by the single ACHE gene, and the structural diversity in the gene products arises from alternative mRNA splicing, and post-translational associations of catalytic and structural subunits. The major form of acetylcholinesterase found in brain, muscle and other tissues is the hydrophilic species, which forms disulfide-linked oligomers with collagenous, or lipid-containing structural subunits. The other, alternatively spliced form, expressed primarily in the erythroid tissues, differs at the C-terminal end, and contains a cleavable hydrophobic peptide with a GPI-anchor site. It associates with the membranes through the phosphoinositide (PI) moieties added post-translationally. [provided by RefSeq, Jul 2008]

ERVFRD-1 Gene

endogenous retrovirus group FRD, member 1

Many different human endogenous retrovirus (HERV) families are expressed in normal placental tissue at high levels, suggesting that HERVs are functionally important in reproduction. This gene is part of a human endogenous retrovirus provirus on chromosome 6 that has inactivating mutations in the gag and pol genes. This gene is the envelope glycoprotein gene which appears to have been selectively preserved. The gene's protein product plays a major role in placental development and trophoblast fusion. The protein has the characteristics of a typical retroviral envelope protein, including a cleavage site that separates the surface (SU) and transmembrane (TM) proteins which form a heterodimer. [provided by RefSeq, Jun 2012]

ERVFRD-2 Gene

endogenous retrovirus group FRD, member 2

ERVFRD-3 Gene

endogenous retrovirus group FRD, member 3

HCG14 Gene

HLA complex group 14 (non-protein coding)

HCG17 Gene

HLA complex group 17 (non-protein coding)

CD44 Gene

CD44 molecule (Indian blood group)

The protein encoded by this gene is a cell-surface glycoprotein involved in cell-cell interactions, cell adhesion and migration. It is a receptor for hyaluronic acid (HA) and can also interact with other ligands, such as osteopontin, collagens, and matrix metalloproteinases (MMPs). This protein participates in a wide variety of cellular functions including lymphocyte activation, recirculation and homing, hematopoiesis, and tumor metastasis. Transcripts for this gene undergo complex alternative splicing that results in many functionally distinct isoforms, however, the full length nature of some of these variants has not been determined. Alternative splicing is the basis for the structural and functional diversity of this protein, and may be related to tumor metastasis. [provided by RefSeq, Jul 2008]

NR1I3 Gene

nuclear receptor subfamily 1, group I, member 3

This gene encodes a member of the nuclear receptor superfamily, and is a key regulator of xenobiotic and endobiotic metabolism. The protein binds to DNA as a monomer or a heterodimer with the retinoid X receptor and regulates the transcription of target genes involved in drug metabolism and bilirubin clearance, such as cytochrome P450 family members. Unlike most nuclear receptors, this transcriptional regulator is constitutively active in the absence of ligand but is regulated by both agonists and inverse agonists. Ligand binding results in translocation of this protein to the nucleus, where it activates or represses target gene transcription. These ligands include bilirubin, a variety of foreign compounds, steroid hormones, and prescription drugs. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

NR1I2 Gene

nuclear receptor subfamily 1, group I, member 2

This gene product belongs to the nuclear receptor superfamily, members of which are transcription factors characterized by a ligand-binding domain and a DNA-binding domain. The encoded protein is a transcriptional regulator of the cytochrome P450 gene CYP3A4, binding to the response element of the CYP3A4 promoter as a heterodimer with the 9-cis retinoic acid receptor RXR. It is activated by a range of compounds that induce CYP3A4, including dexamethasone and rifampicin. Several alternatively spliced transcripts encoding different isoforms, some of which use non-AUG (CUG) translation initiation codon, have been described for this gene. Additional transcript variants exist, however, they have not been fully characterized. [provided by RefSeq, Jul 2008]

HMGB3P25 Gene

high mobility group box 3 pseudogene 25

HMGB3P24 Gene

high mobility group box 3 pseudogene 24

HMGB3P27 Gene

high mobility group box 3 pseudogene 27

HMGB3P26 Gene

high mobility group box 3 pseudogene 26

HMGB3P20 Gene

high mobility group box 3 pseudogene 20

FANCF Gene

Fanconi anemia, complementation group F

The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group F. [provided by RefSeq, Jul 2008]

HMGN2P28 Gene

high mobility group nucleosomal binding domain 2 pseudogene 28

HMGN2P29 Gene

high mobility group nucleosomal binding domain 2 pseudogene 29

HMGN2P25 Gene

high mobility group nucleosomal binding domain 2 pseudogene 25

HMGN2P24 Gene

high mobility group nucleosomal binding domain 2 pseudogene 24

AN Gene

blood group Ahonen

HMGN1P30 Gene

high mobility group nucleosome binding domain 1 pseudogene 30

HMGN1P31 Gene

high mobility group nucleosome binding domain 1 pseudogene 31

HMGN1P32 Gene

high mobility group nucleosome binding domain 1 pseudogene 32

HMGN1P36 Gene

high mobility group nucleosome binding domain 1 pseudogene 36

HMGN1P37 Gene

high mobility group nucleosome binding domain 1 pseudogene 37

HMGN1P38 Gene

high mobility group nucleosome binding domain 1 pseudogene 38

TOX Gene

thymocyte selection-associated high mobility group box

The protein encoded by this gene contains a HMG box DNA binding domain. HMG boxes are found in many eukaryotic proteins involved in chromatin assembly, transcription and replication. This protein may function to regulate T-cell development.[provided by RefSeq, Apr 2009]

ERVH48-1 Gene

endogenous retrovirus group 48, member 1

Many different endogenous retrovirus families are expressed in normal placental tissue at high levels, suggesting that endogenous retroviruses are functionally important in reproduction. This gene is part of an endogenous retrovirus provirus that has placenta specific expression. The protein encoded has the characteristics of a retroviral envelope protein but is truncated and lacks the transmembrane domain. The protein inhibits cell fusion by competing with syncytin-1 for binding to a cell receptor. [provided by RefSeq, May 2015]

HCG13P Gene

HLA complex group 13 pseudogene

NR0B2 Gene

nuclear receptor subfamily 0, group B, member 2

The protein encoded by this gene is an unusual orphan receptor that contains a putative ligand-binding domain but lacks a conventional DNA-binding domain. The gene product is a member of the nuclear hormone receptor family, a group of transcription factors regulated by small hydrophobic hormones, a subset of which do not have known ligands and are referred to as orphan nuclear receptors. The protein has been shown to interact with retinoid and thyroid hormone receptors, inhibiting their ligand-dependent transcriptional activation. In addition, interaction with estrogen receptors has been demonstrated, leading to inhibition of function. Studies suggest that the protein represses nuclear hormone receptor-mediated transactivation via two separate steps: competition with coactivators and the direct effects of its transcriptional repressor function. [provided by RefSeq, Jul 2008]

NR0B1 Gene

nuclear receptor subfamily 0, group B, member 1

This gene encodes a protein that contains a DNA-binding domain. The encoded protein acts as a dominant-negative regulator of transcription which is mediated by the retinoic acid receptor. This protein also functions as an anti-testis gene by acting antagonistically to Sry. Mutations in this gene result in both X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism. [provided by RefSeq, Jul 2008]

LOC105373297 Gene

endogenous retrovirus group FC1 Env polyprotein

ERVK-10 Gene

endogenous retrovirus group K, member 10

HMGB1P6 Gene

high mobility group box 1 pseudogene 6

HMGB1P7 Gene

high mobility group box 1 pseudogene 7

PGA3 Gene

pepsinogen 3, group I (pepsinogen A)

PGA4 Gene

pepsinogen 4, group I (pepsinogen A)

PGA5 Gene

pepsinogen 5, group I (pepsinogen A)

ERCC6L2 Gene

excision repair cross-complementation group 6-like 2

This gene encodes a member of the Snf2 family of helicase-like proteins. The encoded protein may play a role in DNA repair and mitochondrial function. Mutations in this gene have been associated with bone marrow failure syndrome 2. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Apr 2014]

ERVK-25 Gene

endogenous retrovirus group K, member 25

HMGN2P44 Gene

high mobility group nucleosomal binding domain 2 pseudogene 44

HMGN2P45 Gene

high mobility group nucleosomal binding domain 2 pseudogene 45

HMGN2P46 Gene

high mobility group nucleosomal binding domain 2 pseudogene 46

HMGN2P40 Gene

high mobility group nucleosomal binding domain 2 pseudogene 40

HMGN2P41 Gene

high mobility group nucleosomal binding domain 2 pseudogene 41

HMGN2P42 Gene

high mobility group nucleosomal binding domain 2 pseudogene 42

HMGN2P43 Gene

high mobility group nucleosomal binding domain 2 pseudogene 43

TOX4 Gene

TOX high mobility group box family member 4

TOX3 Gene

TOX high mobility group box family member 3

The protein encoded by this gene contains an HMG-box, indicating that it may be involved in bending and unwinding of DNA and alteration of chromatin structure. The C-terminus of the encoded protein is glutamine-rich due to CAG repeats in the coding sequence. A minor allele of this gene has been implicated in an elevated risk of breast cancer. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2009]

TOX2 Gene

TOX high mobility group box family member 2

LOC100421207 Gene

Fanconi anemia, complementation group L pseudogene

FANCD2P1 Gene

Fanconi anemia, complementation group D2 pseudogene 1

ABO Gene

ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)

This gene encodes proteins related to the first discovered blood group system, ABO. Which allele is present in an individual determines the blood group. The 'O' blood group is caused by a deletion of guanine-258 near the N-terminus of the protein which results in a frameshift and translation of an almost entirely different protein. Individuals with the A, B, and AB alleles express glycosyltransferase activities that convert the H antigen into the A or B antigen. Other minor alleles have been found for this gene. [provided by RefSeq, Jul 2008]

HMGN1P20 Gene

high mobility group nucleosome binding domain 1 pseudogene 20

XKRY Gene

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

This gene is located in the nonrecombining portion of the Y chromosome, and is expressed specifically in testis. It encodes a protein which is similar to XK (X-linked Kell blood group precursor), a putative membrane transport protein. This gene is present as two identical copies within a palindromic region; this record represents the more centromeric copy. [provided by RefSeq, Jul 2008]

XKRX Gene

XK, Kell blood group complex subunit-related, X-linked

This gene encodes a protein that is related to a component of the XK/Kell complex of the Kell blood group system. The encoded protein includes several transmembrane domains, is known to be exposed to the cell surface, and may function as a membrane transporter. [provided by RefSeq, May 2010]

HMGB3P14 Gene

high mobility group box 3 pseudogene 14

HMGB3P15 Gene

high mobility group box 3 pseudogene 15

HMGB3P16 Gene

high mobility group box 3 pseudogene 16

HMGB3P17 Gene

high mobility group box 3 pseudogene 17

HMGB3P10 Gene

high mobility group box 3 pseudogene 10

HMGB3P11 Gene

high mobility group box 3 pseudogene 11

HMGB3P12 Gene

high mobility group box 3 pseudogene 12

HMGB3P13 Gene

high mobility group box 3 pseudogene 13

HMGB3P18 Gene

high mobility group box 3 pseudogene 18

HMGB3P19 Gene

high mobility group box 3 pseudogene 19

XKR5 Gene

XK, Kell blood group complex subunit-related family, member 5

XKR4 Gene

XK, Kell blood group complex subunit-related family, member 4

XKR7 Gene

XK, Kell blood group complex subunit-related family, member 7

XKR6 Gene

XK, Kell blood group complex subunit-related family, member 6

XKR3 Gene

XK, Kell blood group complex subunit-related family, member 3

XKRX (MIM 300684) and XKR3 are homologs of the Kell blood group precursor XK (MIM 314850), which is a putative membrane transporter and a component of the XK/Kell complex of the Kell blood group system (Calenda et al., 2006 [PubMed 16431037]).[supplied by OMIM, Mar 2008]

GC Gene

group-specific component (vitamin D binding protein)

The protein encoded by this gene belongs to the albumin gene family. It is a multifunctional protein found in plasma, ascitic fluid, cerebrospinal fluid and on the surface of many cell types. It binds to vitamin D and its plasma metabolites and transports them to target tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011]

LOC100422564 Gene

glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) pseudogene

ERVK3-7 Gene

endogenous retrovirus group K3, member 7

ERVK3-5 Gene

endogenous retrovirus group K3, member 5

HMGB3P29 Gene

high mobility group box 3 pseudogene 29

HMGB3P28 Gene

high mobility group box 3 pseudogene 28

NR1I4 Gene

nuclear receptor subfamily 1, group I, member 4

HMGB3P21 Gene

high mobility group box 3 pseudogene 21

HMGB3P23 Gene

high mobility group box 3 pseudogene 23

HMGN2P4 Gene

high mobility group nucleosomal binding domain 2 pseudogene 4

HMGN2P8 Gene

high mobility group nucleosomal binding domain 2 pseudogene 8

3.8-1.3 Gene

HLA complex group 26 (non-protein coding) pseudogene

BCAM Gene

basal cell adhesion molecule (Lutheran blood group)

This gene encodes Lutheran blood group glycoprotein, a member of the immunoglobulin superfamily and a receptor for the extracellular matrix protein, laminin. The protein contains five extracellular immunoglobulin domains, a single transmembrane domain, and a short C-terminal cytoplasmic tail. This protein may play a role in epithelial cell cancer and in vaso-occlusion of red blood cells in sickle cell disease. Polymorphisms in this gene define some of the antigens in the Lutheran system and also the Auberger system. Inactivating variants of this gene result in the recessive Lutheran null phenotype, Lu(a-b-), of the Lutheran blood group. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]

RHCE Gene

Rh blood group, CcEe antigens

The Rh blood group system is the second most clinically significant of the blood groups, second only to ABO. It is also the most polymorphic of the blood groups, with variations due to deletions, gene conversions, and missense mutations. The Rh blood group includes this gene which encodes both the RhC and RhE antigens on a single polypeptide and a second gene which encodes the RhD protein. The classification of Rh-positive and Rh-negative individuals is determined by the presence or absence of the highly immunogenic RhD protein on the surface of erythrocytes. A mutation in this gene results in amorph-type Rh-null disease. Alternative splicing of this gene results in four transcript variants encoding four different isoforms. [provided by RefSeq, Jul 2008]

TOX4P1 Gene

TOX high mobility group box family member 4 pseudogene 1

LOC105369972 Gene

endogenous retrovirus group K member 8 Pol protein-like

HCG4B Gene

HLA complex group 4B (non-protein coding)

HCG8 Gene

HLA complex group 8

ERVW-4 Gene

endogenous retrovirus group W, member 4

ERVW-5 Gene

endogenous retrovirus group W, member 5

ERVW-6 Gene

endogenous retrovirus group W, member 6

ERVW-1 Gene

endogenous retrovirus group W, member 1

Many different human endogenous retrovirus (HERV) families are expressed in normal placental tissue at high levels, suggesting that HERVs are functionally important in reproduction. This gene is part of an HERV provirus on chromosome 7 that has inactivating mutations in the gag and pol genes. This gene is the envelope glycoprotein gene which appears to have been selectively preserved. The gene's protein product is expressed in the placental syncytiotrophoblast and is involved in fusion of the cytotrophoblast cells to form the syncytial layer of the placenta. The protein has the characteristics of a typical retroviral envelope protein, including a furin cleavage site that separates the surface (SU) and transmembrane (TM) proteins which form a heterodimer. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Mar 2010]

ERVW-3 Gene

endogenous retrovirus group W, member 3

ERVW-2 Gene

endogenous retrovirus group W, member 2