About   Help   FAQ
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 western clawed frog; 1 zebrafish

HCOP human homology predictions: OCA2
Gene Tree: Oca2

Human
homologs
OCA2, oculocutaneous albinism II
Orthology source: HomoloGene, HGNC

IDs:
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; chr15:27754873-28099340 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human OCA2

Mutations,
alleles, and
phenotypes
All mutations/alleles(89) : Chemically and radiation induced(3) Chemically induced (ENU)(12) Chemically induced (other)(1) Gene trapped(1) Radiation induced(48) Spontaneous(20) Targeted(3) Transgenic(1)
Genomic Mutations involving Oca2 (2)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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.
 
Human Diseases Modeled in Mice Using Oca2 (1)    Mutations Annotated to Human Diseases (3)    Phenotype Images(6)
Interactions
Oca2 interacts with 276 markers (Mir9-1, Mir9-2, Mir9-3, ...)
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)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 44
RT-PCR 2
cDNA source data(12)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase oca2    NEW 
Molecular
reagents
All nucleic(29) Genomic(10) cDNA(16) Primer pair(3)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000025863 (Evidence)
Ensembl Gene Model ENSMUSG00000030450 (Evidence)
Entrez Gene 18431 (Evidence)
UniGene 137052
DFCI TC1584133
DoTS DT.60103690, DT.97355682
NIA Mouse Gene Index U008156
Consensus CDS Project CCDS21319.1
International Mouse Phenotyping Consortium Status Oca2
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(44) RefSeq(9) 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:211024 Durham FM, Further experiments on the inheritance of coat colour in mice. J Genet. 1911;1:159-178
(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(246)
Disease annotation references (1)
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
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
06/23/2015
MGI 5.22
The Jackson Laboratory