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Oca2 oculocutaneous albinism II [ Mus musculus (house mouse) ]

Gene ID: 18431, updated on 26-Aug-2014
Official Symbol
Oca2provided by MGI
Official Full Name
oculocutaneous albinism IIprovided by MGI
Primary source
MGI:97454
See related
Ensembl:ENSMUSG00000030450; Vega:OTTMUSG00000025863
Gene type
protein coding
RefSeq status
PROVISIONAL
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Sciurognathi; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
p; D7Nic1; D7H15S12; D7Icr28RN
See Oca2 in Epigenomics, MapViewer
Location:
7 B5-C; 7 33.44 cM
Exon count:
25
Annotation release Status Assembly Chr Location
104 current GRCm38.p2 (GCF_000001635.22) 7 NC_000073.6 (56239593..56536517)

Chromosome 7 - NC_000073.6Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102637256 Neighboring gene hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 2 Neighboring gene solute carrier family 1 (neutral amino acid transporter), member 5 pseudogene Neighboring gene gamma-aminobutyric acid (GABA) A receptor, subunit gamma 3 Neighboring gene ribosomal protein L6 pseudogene Neighboring gene carbonic anhydrase 8 pseudogene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Spontaneous (20)  1 citation
  • Chemically induced (other) (1) 
  • Chemically and radiation induced (3) 
  • Chemically induced (ENU) (11) 
  • Radiation induced (48)  1 citation

Markers

Homology

Gene Ontology Provided by MGI

Process Evidence Code Pubs
cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
developmental pigmentation IMP
Inferred from Mutant Phenotype
more info
PubMed 
melanin biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
melanocyte differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
pigmentation IMP
Inferred from Mutant Phenotype
more info
PubMed 
spermatid development IMP
Inferred from Mutant Phenotype
more info
PubMed 
transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
endoplasmic reticulum membrane ISO
Inferred from Sequence Orthology
more info
 
endosome membrane ISO
Inferred from Sequence Orthology
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
lysosomal membrane ISO
Inferred from Sequence Orthology
more info
 
melanosome membrane ISO
Inferred from Sequence Orthology
more info
 
membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
P protein
Names
P protein
pink-eyed dilution protein
melanocyte-specific transporter protein

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_021879.2NP_068679.1  P protein

    See proteins identical to NP_068679.1

    Status: PROVISIONAL

    Source sequence(s)
    AC102150, AC102220, AC102299, AC121900
    Consensus CDS
    CCDS21319.1
    UniProtKB/Swiss-Prot
    Q62052
    Related
    ENSMUSP00000032633, OTTMUSP00000031557, ENSMUST00000032633, OTTMUST00000063731
    Conserved Domains (2) summary
    cd01116
    Location:333824
    Blast Score: 1187
    P_permease; Permease P (pink-eyed dilution). Mutations in the human melanosomal P gene were responsible for classic phenotype of oculocutaneous albinism type 2 (OCA2). Although the precise function of the P protein is unknown, it was predicted to regulate the ...
    pfam03600
    Location:333771
    Blast Score: 458
    CitMHS; Citrate transporter

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 104

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm38.p2 C57BL/6J

Genomic

  1. NC_000073.6 

    Range
    56239593..56536517
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006540700.1XP_006540763.1  

    Conserved Domains (2) summary
    cd01116
    Location:333814
    Blast Score: 1124
    P_permease; Permease P (pink-eyed dilution). Mutations in the human melanosomal P gene were responsible for classic phenotype of oculocutaneous albinism type 2 (OCA2). Although the precise function of the P protein is unknown, it was predicted to regulate the ...
    pfam03600
    Location:333771
    Blast Score: 458
    CitMHS; Citrate transporter
  2. XM_006540699.1XP_006540762.1  

    See proteins identical to XP_006540762.1

    UniProtKB/Swiss-Prot
    Q62052
    Conserved Domains (2) summary
    cd01116
    Location:333824
    Blast Score: 1187
    P_permease; Permease P (pink-eyed dilution). Mutations in the human melanosomal P gene were responsible for classic phenotype of oculocutaneous albinism type 2 (OCA2). Although the precise function of the P protein is unknown, it was predicted to regulate the ...
    pfam03600
    Location:333771
    Blast Score: 458
    CitMHS; Citrate transporter
  3. XM_006540701.1XP_006540764.1  

    Conserved Domains (2) summary
    cd01116
    Location:18473
    Blast Score: 1073
    P_permease; Permease P (pink-eyed dilution). Mutations in the human melanosomal P gene were responsible for classic phenotype of oculocutaneous albinism type 2 (OCA2). Although the precise function of the P protein is unknown, it was predicted to regulate the ...
    pfam03600
    Location:17420
    Blast Score: 405
    CitMHS; Citrate transporter

Alternate Mm_Celera

Genomic

  1. AC_000029.1 

    Range
    53578935..53870549
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)