OCA2

GENE INFORMATION

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Gene name

OCA2 (HGNC Symbol)

Synonyms

BEY, BEY1, BEY2, D15S12, EYCL, EYCL2, EYCL3, P

Description

Oculocutaneous albinism II (HGNC Symbol)

Entrez gene summary

This gene encodes the human homolog of the mouse p (pink-eyed dilution) gene. The encoded protein is believed to be an integral membrane protein involved in small molecule transport, specifically tyrosine, which is a precursor to melanin synthesis. It is involved in mammalian pigmentation, where it may control skin color variation and act as a determinant of brown or blue eye color. Mutations in this gene result in type 2 oculocutaneous albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

Chromosome

15

Cytoband

Chromosome location (bp)

27754875 - 28099358

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000104044 (version 78.38)

Entrez gene

4948

UniProt

Q04671 (UniProt - Evidence at protein level)

neXtProt

NX_Q04671

Antibodypedia

OCA2 antibodies
 

PROTEIN VIEW

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OCA2-001
 
OCA2-002
 
OCA2-003
 
OCA2-004
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

OCA2-001 ENSP00000346659
ENST00000354638
Q04671
Show all »
Show » Show » 838 92.8 No >9
OCA2-002 ENSP00000261276
ENST00000353809
Q04671
Show all »
Show » Show » 814 90.5 No >9
OCA2-003 ENSP00000415431
ENST00000431101
C9JDV3
Show all »
Show » 264 28.8 No 1
OCA2-004 ENSP00000414425
ENST00000445578
C9JLG9
Show all »
Show » 218 24.1 No 1