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Aliases for OCA2 Gene

Aliases for OCA2 Gene

  • Oculocutaneous Albinism II 2 3
  • Melanocyte-Specific Transporter Protein 2 3 4
  • D15S12 3 4 6
  • P 3 4 6
  • Oculocutaneous Albinism II (Pink-Eye Dilution Homolog, Mouse) 2 3
  • Pink-Eyed Dilution Protein Homolog 3 4
  • Eye Color 2 (Central Brown) 2 3
  • Eye Color 3 (Brown) 2 3
  • P-Protein 2 3
  • SHEP1 3 6
  • EYCL3 3 6
  • BOCA 3 6
  • HCL3 3 6
  • PED 3 6
  • Oculocutaneous Albinism II (Pink-Eye Dilution (Murine) Homolog) 2
  • Total Brown Iris Pigmentation 3
  • Hair Color 3 (Brown) 3
  • P Protein 3
  • EYCL2 3
  • BEY1 3
  • BEY2 3
  • EYCL 3
  • BEY 3

External Ids for OCA2 Gene

Previous Symbols for OCA2 Gene

  • D15S12
  • P
  • EYCL3
  • EYCL2

Summaries for OCA2 Gene

Entrez Gene Summary for OCA2 Gene

  • This gene encodes the human homolog of the mouse p (pink-eyed dilution) gene. The encoded protein is believed to be an integral membrane protein involved in small molecule transport, specifically tyrosine, which is a precursor to melanin synthesis. It is involved in mammalian pigmentation, where it may control skin color variation and act as a determinant of brown or blue eye color. Mutations in this gene result in type 2 oculocutaneous albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

GeneCards Summary for OCA2 Gene

OCA2 (Oculocutaneous Albinism II) is a Protein Coding gene. Diseases associated with OCA2 include acute conjunctivitis and oculocutaneous albinism. GO annotations related to this gene include transporter activity and L-tyrosine transmembrane transporter activity.

UniProtKB/Swiss-Prot for OCA2 Gene

  • Could be involved in the transport of tyrosine, the precursor to melanin synthesis, within the melanocyte. Regulates the pH of melanosome and the melanosome maturation. One of the components of the mammalian pigmentary system. Seems to regulate the post-translational processing of tyrosinase, which catalyzes the limiting reaction in melanin synthesis. May serve as a key control point at which ethnic skin color variation is determined. Major determinant of brown and/or blue eye color.

Gene Wiki entry for OCA2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for OCA2 Gene

Genomics for OCA2 Gene

Genomic Location for OCA2 Gene

Start:
27,754,875 bp from pter
End:
28,099,358 bp from pter
Size:
344,484 bases
Orientation:
Minus strand

Genomic View for OCA2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for OCA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OCA2 Gene

Regulatory Elements for OCA2 Gene

Proteins for OCA2 Gene

  • Protein details for OCA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q04671-P_HUMAN
    Recommended name:
    P protein
    Protein Accession:
    Q04671
    Secondary Accessions:
    • Q15211
    • Q15212
    • Q96EN1
    • Q9UMI5

    Protein attributes for OCA2 Gene

    Size:
    838 amino acids
    Molecular mass:
    92850 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for OCA2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for OCA2 Gene

Proteomics data for OCA2 Gene at MOPED

Post-translational modifications for OCA2 Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn214, Asn218, Asn273, Asn442, and Asn781

Other Protein References for OCA2 Gene

No data available for DME Specific Peptides for OCA2 Gene

Domains for OCA2 Gene

Protein Domains for OCA2 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

P_HUMAN
Family:
  • Belongs to the CitM (TC 2.A.11) transporter family.:
    • Q04671
genes like me logo Genes that share domains with OCA2: view

No data available for Gene Families for OCA2 Gene

Function for OCA2 Gene

Molecular function for OCA2 Gene

UniProtKB/Swiss-Prot Function: Could be involved in the transport of tyrosine, the precursor to melanin synthesis, within the melanocyte. Regulates the pH of melanosome and the melanosome maturation. One of the components of the mammalian pigmentary system. Seems to regulate the post-translational processing of tyrosinase, which catalyzes the limiting reaction in melanin synthesis. May serve as a key control point at which ethnic skin color variation is determined. Major determinant of brown and/or blue eye color.
UniProtKB/Swiss-Prot Induction: Expression is under the control of an enhancer element that is encoded in an intron of the close-by HERC2 gene. The enhancer element containing the T-allele of the polymorphism rs12913832 mediates binding of the transcription factors HLTF, LEF1 and MITF and increases OCA2 expression. In contrast, transcription factor binding and OCA2 expression are reduced in carriers of the C-allele of polymorphism rs12913832. Thus, people homozygous for the C-allele have light-colored eyes, while people homozygous for the T-allele of polymorphism rs12913832 most often have brown eyes.

Gene Ontology (GO) - Molecular Function for OCA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity TAS 8302318
GO:0005302 L-tyrosine transmembrane transporter activity TAS 7601462
GO:0005515 protein binding IPI 19116314
GO:0015105 arsenite transmembrane transporter activity --
genes like me logo Genes that share ontologies with OCA2: view
genes like me logo Genes that share phenotypes with OCA2: view

miRNA for OCA2 Gene

miRTarBase miRNAs that target OCA2

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for OCA2 Gene

Localization for OCA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for OCA2 Gene

Melanosome membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for OCA2 Gene COMPARTMENTS Subcellular localization image for OCA2 gene
Compartment Confidence
endoplasmic reticulum 5
endosome 5
lysosome 5
vacuole 5
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for OCA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm TAS 7601462
GO:0005765 lysosomal membrane IDA 19116314
GO:0005789 endoplasmic reticulum membrane IDA 19116314
GO:0010008 endosome membrane IDA 19116314
GO:0016020 membrane --
genes like me logo Genes that share ontologies with OCA2: view

Pathways for OCA2 Gene

SuperPathways for OCA2 Gene

No Data Available

Interacting Proteins for OCA2 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000346659%0d%0a9606.ENSP00000327214%0d%0a9606.ENSP00000295824%0d%0a
Selected Interacting proteins: ENSP00000346659 for OCA2 Gene via STRING

Gene Ontology (GO) - Biological Process for OCA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006726 eye pigment biosynthetic process TAS 8421497
GO:0006814 sodium ion transport --
GO:0007286 spermatid development IEA --
GO:0008283 cell proliferation IEA --
GO:0015700 arsenite transport --
genes like me logo Genes that share ontologies with OCA2: view

No data available for Pathways by source for OCA2 Gene

Compounds for OCA2 Gene

(1) HMDB Compounds for OCA2 Gene

Compound Synonyms Cas Number PubMed IDs
Melanin
8049-97-6
genes like me logo Genes that share compounds with OCA2: view

Transcripts for OCA2 Gene

Unigene Clusters for OCA2 Gene

Oculocutaneous albinism II:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for OCA2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24
SP1: -
SP2: -

Relevant External Links for OCA2 Gene

GeneLoc Exon Structure for
OCA2
ECgene alternative splicing isoforms for
OCA2

Expression for OCA2 Gene

mRNA expression in normal human tissues for OCA2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for OCA2 Gene

This gene is overexpressed in Artery - Tibial (4.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for OCA2 Gene

SOURCE GeneReport for Unigene cluster for OCA2 Gene Hs.654411

genes like me logo Genes that share expressions with OCA2: view

Orthologs for OCA2 Gene

This gene was present in the common ancestor of animals.

Orthologs for OCA2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia OCA2 36
  • 99.05 (n)
  • 98.81 (a)
OCA2 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LOC524289 36
  • 82.77 (n)
  • 80.83 (a)
OCA2 37
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LOC488683 36
  • 86.09 (n)
  • 86.75 (a)
OCA2 37
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Oca2 36
  • 79.69 (n)
  • 79.69 (a)
Oca2 16
Oca2 37
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia OCA2 37
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 89 (a)
OneToMany
-- 37
  • 47 (a)
OneToMany
-- 37
  • 61 (a)
OneToMany
-- 37
  • 87 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia LOC100365773 36
  • 79.7 (n)
  • 80.14 (a)
chicken
(Gallus gallus)
Aves OCA2 36
  • 70.32 (n)
  • 70.49 (a)
OCA2 37
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia OCA2 37
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia oca2 36
  • 68.31 (n)
  • 70.45 (a)
zebrafish
(Danio rerio)
Actinopterygii oca2 36
  • 64.9 (n)
  • 65.99 (a)
oca2 37
  • 63 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009283 36
  • 51.21 (n)
  • 43.8 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG11262 37
  • 35 (a)
OneToMany
CG13801 37
  • 28 (a)
OneToMany
CG31693 37
  • 31 (a)
OneToMany
hoe1 37
  • 36 (a)
OneToMany
hoe2 37
  • 30 (a)
OneToMany
hoe2 38
  • 40 (a)
CG11262 38
  • 37 (a)
CG13801 38
  • 32 (a)
Species with no ortholog for OCA2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for OCA2 Gene

ENSEMBL:
Gene Tree for OCA2 (if available)
TreeFam:
Gene Tree for OCA2 (if available)

Paralogs for OCA2 Gene

No data available for Paralogs for OCA2 Gene

Variants for OCA2 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for OCA2 Gene

Q04671-P_HUMAN
Genetic variants in OCA2 define the skin/hair/eye pigmentation variation locus 1 (SHEP1) [MIM:227220]; also known as skin/hair/eye pigmentation type 1, blue/nonblue eyes or skin/hair/eye pigmentation type 1, blue/brown eyes or skin/hair/eye pigmentation type 1, blond/brown hair or eye color, brown/blue or eye color, blue/nonblue or eye color type 3 (EYCL3) or brown eye color type 2 (BEY2) or hair color type 3 (HCL3). Hair, eye and skin pigmentation are among the most visible examples of human phenotypic variation, with a broad normal range that is subject to substantial geographic stratification. In the case of skin, individuals tend to have lighter pigmentation with increasing distance from the equator. By contrast, the majority of variation in human eye and hair color is found among individuals of European ancestry, with most other human populations fixed for brown eyes and black hair. OCA2 polymorphisms may act as a penetrance modifier of the risk of malignant melanoma

Sequence variations from dbSNP and Humsavar for OCA2 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type MAF
rs909 -- 27,755,008(-) GTTTT(C/T)CTTGT utr-variant-3-prime
rs985 -- 27,755,013(-) AGTTT(C/G/T)TTTTT utr-variant-3-prime
rs722299 -- 28,046,665(+) CATGC(A/T)CTGAC intron-variant
rs728404 -- 27,954,896(-) CCTCT(A/G)AGCGG intron-variant
rs728405 -- 27,954,707(-) GTTTT(G/T)TTTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for OCA2 Gene

Variant ID Type Subtype PubMed ID
esv34176 CNV Loss 18971310
nsv903731 CNV Gain 21882294
nsv1471 CNV Loss 18451855
esv2126699 CNV Deletion 18987734
nsv94457 CNV Insertion 16902084
esv2749501 CNV Deletion 23290073
nsv456735 CNV Loss 19166990
nsv903732 CNV Gain 21882294
nsv903733 CNV Loss 21882294
esv2749502 CNV Deletion 23290073
esv2749503 CNV Deletion 23290073
nsv1472 CNV Insertion 18451855
esv269728 CNV Insertion 20981092
esv273744 CNV Insertion 20981092
esv1746753 CNV Insertion 17803354
esv267642 CNV Insertion 20981092
nsv903734 CNV Gain 21882294
esv2663244 CNV Deletion 23128226
nsv428299 CNV Loss 18775914
dgv2287n71 CNV Loss 21882294

Relevant External Links for OCA2 Gene

HapMap Linkage Disequilibrium report
OCA2
Human Gene Mutation Database (HGMD)
OCA2
Locus Specific Mutation Databases (LSDB)
OCA2

Disorders for OCA2 Gene

(2) OMIM Diseases for OCA2 Gene (611409)

UniProtKB/Swiss-Prot

P_HUMAN
  • Albinism, oculocutaneous, 2 (OCA2) [MIM:203200]: An autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in skin, hair, and eyes. Although affected infants may appear at birth to have complete absence of melanin pigment, most patients acquire small amounts of pigment with age. Visual anomalies include decreased acuity and nystagmus. The phenotype is highly variable. The hair of affected individuals may turn darker with age, and pigmented nevi or freckles may be seen. African and African American individuals may have yellow hair and blue-gray or hazel irides. One phenotypic variant, brown OCA, has been described in African and African American populations and is characterized by light brown hair and skin color and gray to tan irides. {ECO:0000269 PubMed:10649493, ECO:0000269 PubMed:10671067, ECO:0000269 PubMed:10987646, ECO:0000269 PubMed:12713581, ECO:0000269 PubMed:12727022, ECO:0000269 PubMed:12876664, ECO:0000269 PubMed:17385796, ECO:0000269 PubMed:23504663, ECO:0000269 PubMed:7762554, ECO:0000269 PubMed:7874125, ECO:0000269 PubMed:9259203}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(5) Novoseek inferred disease relationships for OCA2 Gene

Disease -log(P) Hits PubMed IDs
albinism oculocutaneous 95.2 15
albinism 85.8 3
chagas disease 30.5 1
melanoma 29.7 4
influenza 0 1

Genatlas disease for OCA2 Gene

albinism,oculocutaneous 2,tyrosinase positive,most common,autosomal recessive disorder among southern African Blacks also including a milder hypopigmentation phenotype known as the brown oculocutaneous albinism

Relevant External Links for OCA2

GeneTests
OCA2
GeneReviews
OCA2
Genetic Association Database (GAD)
OCA2
Human Genome Epidemiology (HuGE) Navigator
OCA2
genes like me logo Genes that share disorders with OCA2: view

Publications for OCA2 Gene

  1. Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma. (PMID: 15889046) Jannot A.-S. … Soufir N. (Eur. J. Hum. Genet. 2005) 3 4 23 49
  2. A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation. (PMID: 17236130) Duffy D.L. … Sturm R.A. (Am. J. Hum. Genet. 2007) 3 4 23 49
  3. OCA2 481Thr, a hypofunctional allele in pigmentation, is characteristic of northeastern Asian populations. (PMID: 17568986) Yuasa I. … Henke J. (J. Hum. Genet. 2007) 3 23 49
  4. Distribution of two Asian-related coding SNPs in the MC1R and OCA2 genes. (PMID: 17570052) Yuasa I. … Henke J. (Biochem. Genet. 2007) 3 23 49
  5. Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type. (PMID: 18463683) Hutton S.M. … Spritz R.A. (J. Invest. Dermatol. 2008) 3 23 49

Products for OCA2 Gene

Sources for OCA2 Gene

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