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Aliases for OCA2 Gene

Aliases for OCA2 Gene

  • OCA2 Melanosomal Transmembrane Protein 2 3
  • Melanocyte-Specific Transporter Protein 2 3 4
  • 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
  • D15S12 3 4
  • P 3 4
  • Total Brown Iris Pigmentation 3
  • Oculocutaneous Albinism II 5
  • Hair Color 3 (Brown) 3
  • SHEP1 3
  • EYCL2 3
  • EYCL3 3
  • BOCA 3
  • BEY1 3
  • BEY2 3
  • EYCL 3
  • HCL3 3
  • BEY 3
  • PED 3

External Ids for OCA2 Gene

Previous HGNC Symbols for OCA2 Gene

  • D15S12
  • P
  • EYCL3
  • EYCL2

Previous GeneCards Identifiers for OCA2 Gene

  • GC15M024087
  • GC15M020867
  • GC15M025396
  • GC15M025602
  • GC15M025673
  • GC15M028000
  • GC15M006126

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 (OCA2 Melanosomal Transmembrane Protein) is a Protein Coding gene. Diseases associated with OCA2 include Albinism, Oculocutaneous, Type Ii and Epilepsy, Idiopathic Generalized, Suscpetibility To, 12. 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

Regulatory Elements for OCA2 Gene

Enhancers for OCA2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around OCA2 on UCSC Golden Path with GeneCards custom track

Genomic Location for OCA2 Gene

Chromosome:
15
Start:
27,754,873 bp from pter
End:
28,099,358 bp from pter
Size:
344,486 bases
Orientation:
Minus strand

Genomic View for OCA2 Gene

Genes around OCA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OCA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OCA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

  • Glycosylation at Asn 214, Asn 218, Asn 273, Asn 442, and Asn 781
  • Modification sites at PhosphoSitePlus

Other Protein References for OCA2 Gene

No data available for DME Specific Peptides for OCA2 Gene

Domains & Families for OCA2 Gene

Protein Domains for OCA2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for OCA2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q04671

UniProtKB/Swiss-Prot:

P_HUMAN :
  • Belongs to the CitM (TC 2.A.11) transporter family.
Family:
  • Belongs to the CitM (TC 2.A.11) transporter family.
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:0005515 protein binding IPI 19116314
genes like me logo Genes that share ontologies with OCA2: view
genes like me logo Genes that share phenotypes with OCA2: view

Human Phenotype Ontology for OCA2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets 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
extracellular 1
mitochondrion 1
nucleus 1
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
genes like me logo Genes that share ontologies with OCA2: view

Pathways & Interactions 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:0042438 melanin biosynthetic process IEA --
GO:0055085 transmembrane transport IEA --
genes like me logo Genes that share ontologies with OCA2: view

No data available for Pathways by source and SIGNOR curated interactions for OCA2 Gene

Drugs & Compounds for OCA2 Gene

(3) Drugs for OCA2 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adefovir Dipivoxil Approved, Investigational Pharma Target, other 131
Lamivudine Approved, Investigational Pharma Target, inhibitor Nucleoside analog reverse transcriptase inhibitor 601
Telbivudine Approved, Investigational Pharma Target 85

(1) Additional Compounds for OCA2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs 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 (x4.8).

Protein differential expression in normal tissues from HIPED for OCA2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (38.9) and Urine (30.1).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with OCA2: view

Protein tissue co-expression partners for OCA2 Gene

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for OCA2 Gene

Orthologs for OCA2 Gene

This gene was present in the common ancestor of animals.

Orthologs for OCA2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LOC524289 35
  • 82.77 (n)
  • 80.83 (a)
OCA2 36
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LOC488683 35
  • 86.09 (n)
  • 86.75 (a)
OCA2 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Oca2 35
  • 79.69 (n)
  • 79.69 (a)
Oca2 16
Oca2 36
  • 79 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia OCA2 35
  • 99.05 (n)
  • 98.81 (a)
OCA2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100365773 35
  • 79.7 (n)
  • 80.14 (a)
oppossum
(Monodelphis domestica)
Mammalia OCA2 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 89 (a)
OneToMany
-- 36
  • 47 (a)
OneToMany
-- 36
  • 61 (a)
OneToMany
-- 36
  • 87 (a)
OneToMany
chicken
(Gallus gallus)
Aves OCA2 35
  • 70.32 (n)
  • 70.49 (a)
OCA2 36
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia OCA2 36
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia oca2 35
  • 68.31 (n)
  • 70.45 (a)
zebrafish
(Danio rerio)
Actinopterygii oca2 35
  • 64.9 (n)
  • 65.99 (a)
oca2 36
  • 63 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG11262 37
  • 37 (a)
CG13801 37
  • 32 (a)
hoe2 37
  • 40 (a)
CG11262 36
  • 35 (a)
OneToMany
CG13801 36
  • 28 (a)
OneToMany
CG31693 36
  • 31 (a)
OneToMany
hoe1 36
  • 36 (a)
OneToMany
hoe2 36
  • 30 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009283 35
  • 51.21 (n)
  • 43.8 (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

P_HUMAN-Q04671
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
rs61738394 Albinism, oculocutaneous, 2 (OCA2) 28,081,796(+) GAGTC(C/G/T)GCTGG nc-transcript-variant, reference, missense
VAR_006118 Albinism, oculocutaneous, 2 (OCA2)
VAR_006119 Albinism, oculocutaneous, 2 (OCA2)
rs1050968 - 28,018,434(-) CCAGG(A/C)TGACG nc-transcript-variant, reference, missense
rs1800401 - 28,014,907(-) GCATC(C/T)GGGCC nc-transcript-variant, reference, missense

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

Variation tolerance for OCA2 Gene

Residual Variation Intolerance Score: 97.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.56; 88.95% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for OCA2 Gene

Human Gene Mutation Database (HGMD)
OCA2

Disorders for OCA2 Gene

MalaCards: The human disease database

(18) MalaCards diseases for OCA2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
albinism, oculocutaneous, type ii
  • albinism, brown oculocutaneous
epilepsy, idiopathic generalized, suscpetibility to, 12
  • epilepsy, idiopathic generalized 12
glut1 deficiency syndrome 1
  • glut-1 deficiency syndrome
glut1 deficiency syndrome 2
  • dystonia 18
dystonia 9
  • choreoathetosis/spasticity, episodic
- elite association - COSMIC cancer census association via MalaCards
Search OCA2 in MalaCards View complete list of genes associated with diseases

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.

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

Genetic Association Database (GAD)
OCA2
Human Genome Epidemiology (HuGE) Navigator
OCA2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
OCA2
genes like me logo Genes that share disorders with OCA2: view

Publications for OCA2 Gene

  1. 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 48 67
  2. Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma. (PMID: 19710684) Duffy D.L. … Montgomery G.W. (J. Invest. Dermatol. 2010) 3 23
  3. A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism. (PMID: 19865097) Wei A. … Li W. (J. Invest. Dermatol. 2010) 3 23
  4. Inheritance of a novel mutated allele of the OCA2 gene associated with high incidence of oculocutaneous albinism in a Polynesian community. (PMID: 20019752) Johanson H.C. … Sturm R.A. (J. Hum. Genet. 2010) 3 23
  5. Analysis of cultured human melanocytes based on polymorphisms within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P loci. (PMID: 18650849) Cook A.L. … Sturm R.A. (J. Invest. Dermatol. 2009) 3 23

Products for OCA2 Gene

Sources for OCA2 Gene

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