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Oca2
Gene Detail
 Symbol
Name
ID
Oca2
oculocutaneous albinism II
MGI:97454
Synonyms D7H15S12, D7H15S12, p
Feature Type protein coding gene
Genetic Map
Chromosome 7
33.44 cM
Detailed Genetic Map ± 1 cM


Mapping data(145)
Sequence Map
Chr7:56239760-56536517 bp, + strand
From VEGA annotation of GRCm38

  296758 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:37281  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Oca2

Human
homologs
Human Homolog OCA2, oculocutaneous albinism II
NCBI Gene ID 4948
neXtProt AC  NX_Q04671
Human Synonyms  BEY, BEY1, BEY2, BOCA, D15S12, EYCL, EYCL2, EYCL3, HCL3, P, PED, SHEP1
Human Chr (Location)  15q; chr15:27754875-28099337 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human OCA2
Alleles
and
phenotypes
All alleles(85) : Chemically and radiation induced(3) Chemically induced (ENU)(10) Chemically induced (other)(1) Gene trapped(1) Radiation induced(48) Spontaneous(20) Targeted(2)
Incidental mutations (data from Mutagenetix , APF )
 
Mutations generally result in varying degrees of coat and eye pigment dilution. Specific alleles produce cleft palate, reproductive, endocrine or neurological disorders, and/or lethality.
 
Phenotype Images(6)
Gene Ontology
(GO)
classifications
All GO classifications: (15 annotations)
Process cell proliferation, developmental pigmentation, ...
Component endoplasmic reticulum membrane, endosome membrane, ...
External Resources: FuncBase
Expression
Literature Summary: (4 records)
Data Summary: Results (46)    Tissues (4)    Images (18)
Theiler Stages: 23, 28
Assay TypeResults
RNA in situ 44
RT-PCR 2
cDNA source data(12)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(29) Genomic(10) cDNA(16) Primer pair(3)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000025863 (Evidence)
Ensembl Gene ModelENSMUSG00000030450 (Evidence)
Entrez Gene18431 (Evidence)
UniGene137052
DFCITC1584133
DoTSDT.60103690, DT.97355682
NIA Mouse Gene IndexU008156
Consensus CDS ProjectCCDS21319.1
International Mouse Knockout Project StatusOca2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000025863 VEGA Gene Model | MGI Sequence Detail 296758 C57BL/6J ±  kb
transcript OTTMUST00000063731 VEGA | MGI Sequence Detail 3131 Not Applicable 
polypeptide OTTMUSP00000031557 VEGA | MGI Sequence Detail 833 Not Applicable 

For the selected sequences
All sequences(43) RefSeq(8) UniProt(4)
Polymorphisms All PCR and RFLP(15) : PCR(2) RFLP(13) SNPs within 2kb(2903 from dbSNP Build 137)    SNPs within 2kb including multiple locations(2909)
Protein-related
information
ResourceIDDescription
InterPro IPR004680 Citrate transporter-like domain
Protein Ontology PR:000011590 P protein
References (Earliest) J:100 Haldane JBS, et al., Reduplication in mice. J Genet. 1915;5:133-135
(Latest) J:198496 Resnick JL, et al., Recommendations for the investigation of animal models of Prader-Willi syndrome. Mamm Genome. 2013 Jun;24(5-6):165-78
All references(248)
Other
accession IDs
MGD-MRK-13097, MGD-MRK-7793, MGD-MRK-7817, MGD-MRK-8115

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/15/2014
MGI 5.18
The Jackson Laboratory