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(144)

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 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; chr15:28000021-28344458 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human OCA2

Alleles and phenotypes

All alleles(85) : Targeted(2) Gene trapped(1) Spontaneous(20) Chemically induced(14) Radiation induced(51)
 

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: (17 annotations)

Process	arsenite transport, cell proliferation, ...
Component	endoplasmic reticulum membrane, endosome membrane, ...
Function	arsenite transmembrane transporter activity

External Resources: FuncBase

Expression

Literature Summary: (4 records)
Data Summary: Results (46)    Tissues (4)    Images (18)
Theiler Stages: 23, 28

Assay Type	Results
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 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 Knockout Project Status	Oca2

Sequences

Length	Strain/Species
genomic	OTTMUSG00000025863	VEGA Gene Model | MGI Sequence Detail	296758	C57BL/6J
transcript	OTTMUST00000063731	VEGA | MGI Sequence Detail	3131	Not Applicable
polypeptide	OTTMUSP00000031557	VEGA | MGI Sequence Detail	833	Not Applicable

All sequences(37) RefSeq(2) UniProt(4)

Polymorphisms

All PCR and RFLP(15) : PCR(2) RFLP(13) SNPs(1814 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR000802	Arsenical pump membrane protein, ArsB
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:190469 Clement Y, et al., Gabra5-gene haplotype block associated with behavioral properties of the full agonist benzodiazepine chlordiazepoxide. Behav Brain Res. 2012 Aug 1;233(2):474-82
All references(244)

Other accession IDs

MGD-MRK-13097, MGD-MRK-7793, MGD-MRK-7817, MGD-MRK-8115