Details for: OCA2

Gene ID: 4948

Symbol: OCA2

Ensembl ID: ENSG00000104044

Description: OCA2 melanosomal transmembrane protein

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 1.6847
    Cell Significance Index: 103.2900
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 1.6068
    Cell Significance Index: 38.9200
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 1.2519
    Cell Significance Index: -2.7400
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.9017
    Cell Significance Index: 323.4200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.8458
    Cell Significance Index: 37.4100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.8094
    Cell Significance Index: 1524.0000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.7640
    Cell Significance Index: 153.2600
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 0.7330
    Cell Significance Index: 4.5400
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.6886
    Cell Significance Index: 476.2900
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.6341
    Cell Significance Index: 17.7200
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.5263
    Cell Significance Index: 19.9300
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.4849
    Cell Significance Index: 92.2800
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.4707
    Cell Significance Index: 298.9700
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.3758
    Cell Significance Index: 21.0900
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.3555
    Cell Significance Index: 4.8500
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.3284
    Cell Significance Index: 8.1900
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.2569
    Cell Significance Index: 231.9900
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 0.2495
    Cell Significance Index: 25.9800
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.2244
    Cell Significance Index: 22.2000
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.1986
    Cell Significance Index: 90.1300
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1637
    Cell Significance Index: 72.3900
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.1203
    Cell Significance Index: 221.8800
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.1130
    Cell Significance Index: 173.9800
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.1121
    Cell Significance Index: 18.2300
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.0635
    Cell Significance Index: 6.9100
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0521
    Cell Significance Index: 1.5000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0266
    Cell Significance Index: 36.1500
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0202
    Cell Significance Index: 0.7100
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.0077
    Cell Significance Index: 0.1100
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.0037
    Cell Significance Index: 0.5400
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0081
    Cell Significance Index: -1.0400
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0167
    Cell Significance Index: -12.2700
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0167
    Cell Significance Index: -0.7200
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0176
    Cell Significance Index: -13.0600
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0246
    Cell Significance Index: -18.6100
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0259
    Cell Significance Index: -14.1200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0275
    Cell Significance Index: -15.5300
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0285
    Cell Significance Index: -17.8200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0301
    Cell Significance Index: -5.9700
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0304
    Cell Significance Index: -0.6300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0388
    Cell Significance Index: -1.7600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0444
    Cell Significance Index: -12.7700
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0544
    Cell Significance Index: -1.7800
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0552
    Cell Significance Index: -1.3800
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.0601
    Cell Significance Index: -4.1600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0653
    Cell Significance Index: -11.7800
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0669
    Cell Significance Index: -2.1300
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -0.0670
    Cell Significance Index: -4.0200
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0811
    Cell Significance Index: -17.0800
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0818
    Cell Significance Index: -13.9700
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.1011
    Cell Significance Index: -12.4300
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: -0.1025
    Cell Significance Index: -1.5600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.1136
    Cell Significance Index: -15.6000
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1203
    Cell Significance Index: -8.5100
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1216
    Cell Significance Index: -15.7200
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1305
    Cell Significance Index: -13.3400
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.1319
    Cell Significance Index: -3.2900
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.1320
    Cell Significance Index: -2.8600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1441
    Cell Significance Index: -16.5100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.1518
    Cell Significance Index: -11.6500
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.1548
    Cell Significance Index: -3.9800
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1709
    Cell Significance Index: -8.9800
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.2107
    Cell Significance Index: -14.1700
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.2174
    Cell Significance Index: -16.2100
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.2237
    Cell Significance Index: -14.4400
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.2292
    Cell Significance Index: -7.3400
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.2314
    Cell Significance Index: -5.0000
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.2352
    Cell Significance Index: -8.2400
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.2495
    Cell Significance Index: -15.3400
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.2499
    Cell Significance Index: -7.1300
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.2598
    Cell Significance Index: -2.8300
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.2660
    Cell Significance Index: -5.3400
  • Cell Name: epidermal cell (CL0000362)
    Fold Change: -0.2684
    Cell Significance Index: -0.6100
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.2745
    Cell Significance Index: -14.3000
  • Cell Name: melanocyte (CL0000148)
    Fold Change: -0.2935
    Cell Significance Index: -2.7500
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.2991
    Cell Significance Index: -5.9200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.3024
    Cell Significance Index: -14.1000
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.3049
    Cell Significance Index: -8.3000
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.3062
    Cell Significance Index: -11.2400
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.3149
    Cell Significance Index: -16.3600
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.3245
    Cell Significance Index: -15.2500
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.3277
    Cell Significance Index: -6.9800
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.3284
    Cell Significance Index: -6.9700
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.3304
    Cell Significance Index: -2.2400
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.3326
    Cell Significance Index: -3.8800
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.3367
    Cell Significance Index: -5.7700
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.3408
    Cell Significance Index: -7.2900
  • Cell Name: helper T cell (CL0000912)
    Fold Change: -0.3653
    Cell Significance Index: -5.1900
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.3679
    Cell Significance Index: -10.8400
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: -0.3736
    Cell Significance Index: -2.4800
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.3741
    Cell Significance Index: -7.8300
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.3807
    Cell Significance Index: -13.2300
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.3869
    Cell Significance Index: -5.8300
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: -0.3933
    Cell Significance Index: -7.7400
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.3935
    Cell Significance Index: -3.7300
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.4072
    Cell Significance Index: -6.8200
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.4322
    Cell Significance Index: -4.9100
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: -0.4340
    Cell Significance Index: -5.7900
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.4600
    Cell Significance Index: -9.6000
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.4611
    Cell Significance Index: -14.5900

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Melanosomal transmembrane protein**: The OCA2 gene encodes for a transmembrane protein that is integral to the melanosome membrane, a organelle responsible for melanin storage and transport. 2. **Significant expression in various cell types**: OCA2 is expressed in pigmented epithelial cells, non-pigmented ciliary epithelial cells, interneurons, and other neural cells, highlighting its diverse roles in the body. 3. **Implicated in melanin biosynthesis**: The OCA2 gene is crucial for the production of melanin, a pigment responsible for skin, hair, and eye color. 4. **Regulation of chloride transport**: The OCA2 protein is also involved in chloride transport across cell membranes, a process essential for maintaining cellular homeostasis. **Pathways and Functions:** 1. **Melanin biosynthesis**: The OCA2 gene is a key player in the biosynthesis of melanin, which is produced through the tyrosinase pathway. Mutations in the OCA2 gene can lead to albinism, a condition characterized by the absence of melanin production. 2. **Chloride transport**: The OCA2 protein facilitates chloride transport across cell membranes, which is crucial for maintaining cellular homeostasis and regulating various cellular processes. 3. **Cell proliferation and differentiation**: The OCA2 gene is also implicated in cell proliferation and differentiation, particularly in melanocytes and other neural cells. 4. **Metabolism and amino acid derivatives**: The OCA2 gene is involved in metabolic pathways, including the metabolism of amino acids and derivatives. **Clinical Significance:** 1. **Albinism**: Mutations in the OCA2 gene can lead to albinism, a condition characterized by the absence of melanin production, resulting in pale skin, hair, and eyes. 2. **Melanoma**: The OCA2 gene has been linked to an increased risk of melanoma, a type of skin cancer. 3. **Neurological disorders**: Variations in the OCA2 gene have been associated with neurological disorders, including Parkinson's disease and schizophrenia. 4. **Spermatogenesis**: The OCA2 gene plays a role in spermatogenesis, the process of sperm production. In conclusion, the OCA2 gene is a complex and multifunctional gene that plays a critical role in melanin biosynthesis, chloride transport, and various other physiological processes. Its significance extends beyond melanin production, with implications for neurological disorders, cancer, and other diseases. Further research is necessary to fully elucidate the functions and clinical significance of the OCA2 gene.

Genular Protein ID: 2695178549

Symbol: P_HUMAN

Name: P protein

UniProtKB Accession Codes:

Q04671 Q15211 Q15212 Q96EN1 Q9UMI5

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CTD 1 ChEBI 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 43 Ensembl 2 ExpressionAtlas 1 GO 11 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 4 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 5 OrthoDB 1 PANTHER 2 PIR 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 RNAct 1 Reactome 1 RefSeq 2 Rhea 1 SIGNOR 1 STRING 1 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 8421497

Title: A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism.

PubMed ID: 8421497

DOI: 10.1038/361072a0

PubMed ID: 7601462

Title: Organization and sequence of the human P gene and identification of a new family of transport proteins.

PubMed ID: 7601462

DOI: 10.1016/0888-7543(95)80220-g

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 1509264

Title: The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes.

PubMed ID: 1509264

DOI: 10.1126/science.257.5073.1121

PubMed ID: 11310796

Title: The mouse p (pink-eyed dilution) and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pH.

PubMed ID: 11310796

DOI: 10.1034/j.1600-0749.2001.140203.x

PubMed ID: 11601658

Title: Inverse correlation between pink-eyed dilution protein expression and induction of melanogenesis by bafilomycin A1.

PubMed ID: 11601658

DOI: 10.1034/j.1600-0749.2001.140508.x

PubMed ID: 15262401

Title: Eye colour: portals into pigmentation genes and ancestry.

PubMed ID: 15262401

DOI: 10.1016/j.tig.2004.06.010

PubMed ID: 10094567

Title: Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism.

PubMed ID: 10094567

DOI: 10.1002/(sici)1098-1004(1999)13:2<99::aid-humu2>3.0.co;2-c

PubMed ID: 22234890

Title: HERC2 rs12913832 modulates human pigmentation by attenuating chromatin-loop formation between a long-range enhancer and the OCA2 promoter.

PubMed ID: 22234890

DOI: 10.1101/gr.128652.111

PubMed ID: 32966160

Title: SLC45A2 protein stability and regulation of melanosome pH determine melanocyte pigmentation.

PubMed ID: 32966160

DOI: 10.1091/mbc.e20-03-0200

PubMed ID: 7874125

Title: Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2).

PubMed ID: 7874125

PubMed ID: 7762554

Title: Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2).

PubMed ID: 7762554

PubMed ID: 9259203

Title: Novel mutations of the P gene in type II oculocutaneous albinism (OCA2).

PubMed ID: 9259203

DOI: 10.1002/(sici)1098-1004(1997)10:2<175::aid-humu12>3.0.co;2-x

PubMed ID: 10671067

Title: Mutations of the human P gene associated with type II oculocutaneous albinism (OCA2).

PubMed ID: 10671067

DOI: 10.1002/(sici)1098-1004(1998)12:6<434::aid-humu16>3.0.co;2-7

PubMed ID: 10987646

Title: Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population.

PubMed ID: 10987646

DOI: 10.1007/s004390051090

PubMed ID: 10649493

Title: Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa.

PubMed ID: 10649493

DOI: 10.1002/(sici)1098-1004(200002)15:2<166::aid-humu5>3.0.co;2-z

PubMed ID: 12163334

Title: P gene as an inherited biomarker of human eye color.

PubMed ID: 12163334

PubMed ID: 12876664

Title: MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2).

PubMed ID: 12876664

DOI: 10.1086/377569

PubMed ID: 12727022

Title: A novel P gene missense mutation in a Japanese patient with oculocutaneous albinism type II (OCA2).

PubMed ID: 12727022

DOI: 10.1016/s0923-1811(03)00005-7

PubMed ID: 12713581

Title: Six novel P gene mutations and oculocutaneous albinism type 2 frequency in Japanese albino patients.

PubMed ID: 12713581

DOI: 10.1046/j.1523-1747.2003.12127.x

PubMed ID: 15889046

Title: Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma.

PubMed ID: 15889046

DOI: 10.1038/sj.ejhg.5201415

PubMed ID: 17236130

Title: A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation.

PubMed ID: 17236130

DOI: 10.1086/510885

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

PubMed ID: 17952075

Title: Genetic determinants of hair, eye and skin pigmentation in Europeans.

PubMed ID: 17952075

DOI: 10.1038/ng.2007.13

PubMed ID: 17385796

Title: Prenatal diagnosis of oculocutaneous albinism type II and novel mutations in two Chinese families.

PubMed ID: 17385796

DOI: 10.1002/pd.1713

PubMed ID: 18252221

Title: Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene.

PubMed ID: 18252221

DOI: 10.1016/j.ajhg.2007.10.003

PubMed ID: 18252222

Title: A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color.

PubMed ID: 18252222

DOI: 10.1016/j.ajhg.2007.11.005

PubMed ID: 18172690

Title: Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression.

PubMed ID: 18172690

DOI: 10.1007/s00439-007-0460-x

PubMed ID: 23504663

Title: DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.

PubMed ID: 23504663

DOI: 10.1002/humu.22315

PubMed ID: 25513726

Title: An intracellular anion channel critical for pigmentation.

PubMed ID: 25513726

DOI: 10.7554/elife.04543

Sequence Information:

  • Length: 838
  • Mass: 92850
  • Checksum: A6158B9E55BD7199
  • Sequence:
    • MHLEGRDGRR YPGAPAVELL QTSVPSGLAE LVAGKRRLPR GAGGADPSHS CPRGAAGQSS 
WAPAGQEFAS FLTKGRSHSS LPQMSSSRSK DSCFTENTPL LRNSLQEKGS RCIPVYHPEF 
ITAEESWEDS SADWERRYLL SREVSGLSAS ASSEKGDLLD SPHIRLRLSK LRRCVQWLKV 
MGLFAFVVLC SILFSLYPDQ GKLWQLLALS PLENYSVNLS SHVDSTLLQV DLAGALVASG 
PSRPGREEHI VVELTQADAL GSRWRRPQQV THNWTVYLNP RRSEHSVMSR TFEVLTRETV 
SISIRASLQQ TQAVPLLMAH QYLRGSVETQ VTIATAILAG VYALIIFEIV HRTLAAMLGS 
LAALAALAVI GDRPSLTHVV EWIDFETLAL LFGMMILVAI FSETGFFDYC AVKAYRLSRG 
RVWAMIIMLC LIAAVLSAFL DNVTTMLLFT PVTIRLCEVL NLDPRQVLIA EVIFTNIGGA 
ATAIGDPPNV IIVSNQELRK MGLDFAGFTA HMFIGICLVL LVCFPLLRLL YWNRKLYNKE 
PSEIVELKHE IHVWRLTAQR ISPASREETA VRRLLLGKVL ALEHLLARRL HTFHRQISQE 
DKNWETNIQE LQKKHRISDG ILLAKCLTVL GFVIFMFFLN SFVPGIHLDL GWIAILGAIW 
LLILADIHDF EIILHRVEWA TLLFFAALFV LMEALAHLHL IEYVGEQTAL LIKMVPEEQR 
LIAAIVLVVW VSALASSLID NIPFTATMIP VLLNLSHDPE VGLPAPPLMY ALAFGACLGG 
NGTLIGASAN VVCAGIAEQH GYGFSFMEFF RLGFPMMVVS CTVGMCYLLV AHVVVGWN

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.