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 homologue 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 - a precursor of melanin. Mutations in this gene result in type 2 oculocutaneous albinism. [provided by RefSeq, Jul 2008]

Chromosome

15 (Chromosome progress)

Cytoband

q12

Chromosome location (bp)

28000021 - 28344504

Ensembl

ENSG00000104044 (version 73.37)

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
 
OCA2-201
 
 
 
 
 

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 » Show » 264 28.8 No 1
OCA2-004 ENSP00000414425
ENST00000445578
C9JLG9
Show all »
Show » 218 24.1 No 1
OCA2-201 ENSP00000372457
ENST00000382996
Q04671
Show all »
Show » Show » 668 74.3 No 7