Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Oca2. (This text reflects annotations as of Wednesday, January 23, 2013.)

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the human homologue 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 - a precursor of melanin. Mutations in this gene result in type 2 oculocutaneous albinism. [provided by RefSeq, Jul 2008]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Oca2
  • participates in the following biological processes:
    • cell proliferation ^[2]
    • developmental pigmentation ^[3]
    • melanin biosynthetic process ^{[2, 6]}
    • melanocyte differentiation ^[5]
    • pigmentation ^{[2, 4, 5, 7]}
    • spermatid development ^[1]

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Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Oca2:
  • is located in the following cellular components:
    • endoplasmic reticulum membrane
    • endosome membrane
    • lysosomal membrane
    • melanosome membrane

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Summary text based on GO annotations supported by structural data

• Oca2 encodes a protein or proteins that contain the following InterPro domains: Arsenical pump membrane protein, ArsB, Citrate transporter-like domain, indicating that the gene product:
  • participates in the following biological processes:
    • arsenite transport
    • transmembrane transport
  • performs the following molecular functions:
    • arsenite transmembrane transporter activity
  • is located in the following cellular components:
    • integral to membrane

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Oca2 indicates that it:
  • participates in the following biological processes:
    • transport
  • is located in the following cellular components:
    • integral to membrane
    • membrane

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References

1. Bryan JH. (1981) Spermatogenesis revisited. V. Spermiogenesis in mice homozygous for two different male-sterile mutations (ps and hpy). Cell Tissue Res, 221:169-80. (PubMed:7317942)
2. Hirobe T et al. (1998) Effects of genic substitution at the agouti, brown, albino, dilute, and pink-eyed dilution loci on the proliferation and differentiation of mouse epidermal melanocytes in serum-free culture. Eur J Cell Biol, 75:184-91. (PubMed:9548375)
3. Lebel M. (2002) Increased frequency of DNA deletions in pink-eyed unstable mice carrying a mutation in the Werner syndrome gene homologue. Carcinogenesis, 23:213-6. (PubMed:11756244)
4. Markert CL et al. (1956) The Effects of Genotype and Cell Environment on Melanoblast Differentiation in the House Mouse. Genetics, 41:429-50. (PubMed:17247639)
5. Moore KJ et al. (1990) Interaction of the murine dilute suppressor gene (dsu) with fourteen coat color mutations [published erratum appears in Genetics 1990 Sep;126(1):285] Genetics, 125:421-30. (PubMed:2379821)
6. Ozeki H et al. (1995) Chemical characterization of hair melanins in various coat-color mutants of mice. J Invest Dermatol, 105:361-6. (PubMed:7665913)
7. PIERRO LJ et al. (1963) Slate--a new coat color mutant in the mouse. J Hered, 54:47-50. (PubMed:13943454)

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Gene Ontology Evidence Code Abbreviations:

EXP Inferred from experiment

IC Inferred by curator

IDA Inferred from direct assay

IEA Inferred from electronic annotation

IGI Inferred from genetic interaction

IMP Inferred from mutant phenotype

IPI Inferred from physical interaction

ISS Inferred from sequence or structural similarity

ISO Inferred from sequence orthology

ISA Inferred from sequence alignment

ISM Inferred from sequence model

NAS Non-traceable author statement

ND No biological data available

RCA Reviewed computational analysis

TAS Traceable author statement

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