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oca2 oculocutaneous albinism II [ Haplochromis burtoni (Burton's mouthbrooder) ]

Gene ID: 102313523, updated on 10-Mar-2024

Summary

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Gene symbol
oca2
Gene description
oculocutaneous albinism II
See related
Ensembl:ENSHBUG00000015094
Gene type
protein coding
RefSeq status
MODEL
Organism
Haplochromis burtoni
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Neoteleostei; Acanthomorphata; Ovalentaria; Cichlomorphae; Cichliformes; Cichlidae; African cichlids; Pseudocrenilabrinae; Haplochromini; Haplochromis
Orthologs
human zebrafish 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 NCSU_Asbu1 (GCF_018398535.1) Unplaced Scaffold NW_024582374.1 (2931151..2986605, complement)
101 previous assembly AstBur1.0 (GCF_000239415.1) Unplaced Scaffold NW_005179432.1 (113692..168131)

NW_024582374.1Genomic Context describing neighboring genes Neighboring gene gamma-aminobutyric acid type A receptor subunit beta3 Neighboring gene gamma-aminobutyric acid type A receptor subunit alpha5 Neighboring gene gamma-aminobutyric acid type A receptor subunit gamma3 Neighboring gene HECT and RLD domain containing E3 ubiquitin protein ligase 2 Neighboring gene NIPA magnesium transporter 1

Genomic regions, transcripts, and products

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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
Names
OCA2 melanosomal transmembrane protein

NCBI Reference Sequences (RefSeq)

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RefSeqs of Annotated Genomes: Haplochromis burtoni 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 NCSU_Asbu1 Primary Assembly

Genomic

  1. NW_024582374.1 Reference NCSU_Asbu1 Primary Assembly

    Range
    2931151..2986605 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005919698.2 → XP_005919760.1  P protein

    UniProtKB/TrEMBL
    A0A3Q2WTS1
    Related
    ENSHBUP00000030224.1
    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 ...

  2. XM_042216686.1 → XP_042072620.1  P protein

    UniProtKB/TrEMBL
    A0A3Q2WTS1
    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
Heading Accession and Version

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