P protein

OCA2
Identifiers
AliasesOCA2, BEY, BEY1, BEY2, BOCA, D15S12, EYCL, EYCL2, EYCL3, HCL3, PED, SHEP1, OCA2 melanosomal transmembrane protein, P
External IDsOMIM: 611409; MGI: 97454; HomoloGene: 37281; GeneCards: OCA2; OMA:OCA2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000275
NM_001300984

NM_021879

RefSeq (protein)

NP_000266
NP_001287913

NP_068679

Location (UCSC)Chr 15: 27.75 – 28.1 MbChr 7: 55.89 – 56.19 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

P protein, also known as melanocyte-specific transporter protein or pink-eyed dilution protein homolog, is a protein that in humans is encoded by the oculocutaneous albinism II (OCA2) gene.[5] The P protein is believed to be an integral membrane protein involved in small molecule transport, specifically of tyrosine—a precursor of melanin. Certain mutations in OCA2 result in type 2 oculocutaneous albinism.[5] OCA2 encodes the human homologue of the mouse p (pink-eyed dilution) gene.

In human, the OCA2 gene is located on the long (q) arm of chromosome 15 between positions 12 and 13.1

The human OCA2 gene is located on the long arm (q) of chromosome 15, specifically from base pair 28,000,020 to base pair 28,344,457 on chromosome 15.

  1. ^ a b c ENSG00000277361 GRCh38: Ensembl release 89: ENSG00000104044, ENSG00000277361Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000030450Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b "Entrez Gene: OCA2 oculocutaneous albinism II (pink-eye dilution homolog, mouse)". Retrieved 2015-03-12.