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Oca2 OCA2 melanosomal transmembrane protein [ Nannospalax galili (Upper Galilee mountains blind mole rat) ]

Gene ID: 103734604, updated on 11-Mar-2024

Summary

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Gene symbol
Oca2
Gene description
OCA2 melanosomal transmembrane protein
See related
Ensembl:ENSNGAG00000006386
Gene type
protein coding
RefSeq status
MODEL
Organism
Nannospalax galili
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Spalacidae; Spalacinae; Nannospalax
Orthologs
human mouse all
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Genomic context

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Location:
chromosome: Un
Exon count:
24
Annotation release Status Assembly Chr Location
102 current S.galili_v1.0 (GCF_000622305.1) Unplaced Scaffold NW_008338998.1 (3163289..3541692, complement)

NW_008338998.1Genomic Context describing neighboring genes Neighboring gene gamma-aminobutyric acid type A receptor subunit gamma3 Neighboring gene alpha-enolase pseudogene Neighboring gene protein SET-like Neighboring gene U6 spliceosomal RNA Neighboring gene HECT and RLD domain containing E3 ubiquitin protein ligase 2 Neighboring gene U6 spliceosomal RNA

Genomic regions, transcripts, and products

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Genomic Sequence:
NW_008338998 Unplaced Scaffold Reference S.galili_v1.0 Primary Assembly

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

General gene information

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Homology

Gene Ontology Provided by RefSeq

Process Evidence Code Pubs
involved_in melanin biosynthetic process IEA
Inferred from Electronic Annotation
more info
 PubMed 
involved_in melanocyte differentiation IEA
Inferred from Electronic Annotation
more info
 PubMed 
involved_in transmembrane transport IEA
Inferred from Electronic Annotation
more info
 PubMed 
Component Evidence Code Pubs
located_in melanosome membrane IEA
Inferred from Electronic Annotation
more info
 PubMed 

General protein information

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Preferred Names
P protein

NCBI Reference Sequences (RefSeq)

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RefSeqs of Annotated Genomes: Nannospalax galili Annotation Release 102 details...Open this link in a new tab

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

Reference S.galili_v1.0 Primary Assembly

Genomic

  1. NW_008338998.1 Reference S.galili_v1.0 Primary Assembly

    Range
    3163289..3541692 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_008833639.2 → XP_008831861.1  P protein isoform X2

    UniProtKB/TrEMBL
    A0A8C6QIX4, A0A8C6QIX6
    Related
    ENSNGAP00000004722.1, ENSNGAT00000007808.1
    Conserved Domains (1) summary
    cd01116
    Location:333 → 824
    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 ...

  2. XM_008833638.2 → XP_008831860.1  P protein isoform X1

    UniProtKB/TrEMBL
    A0A8C6QIX6
    Conserved Domains (1) summary
    cd01116
    Location:342 → 833
    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 ...
Nucleotide Protein
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