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Gene Ontology Classifications
Symbol
Name
ID
Oca2
oculocutaneous albinism II
MGI:97454

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 Thursday, July 24, 2014.)
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]
Summary text based on GO annotations supported by experimental evidence in mouse
Summary text based on GO annotations supported by experimental evidence in other organisms
Summary text based on GO annotations supported by structural data
Summary text for additional MGI annotations
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)



Go Annotations in Tabular Form (Text View) (GO Graph)

 
 


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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
10/08/2014
MGI 5.20
The Jackson Laboratory