OCA2

GENERAL INFORMATION

? »

Gene name

OCA2

Gene description

Oculocutaneous albinism II

Protein class

Disease related genes
Potential drug targets
Predicted membrane proteins
Transporters

Predicted localization

Membrane

Number of transcripts

4
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

? »

RNA tissue category

HPA:Tissue enhanced (skin, thyroid gland)
GTEx:Tissue enhanced (thyroid gland)

Protein evidence

Evidence at protein level

Protein localization

The gastric mucosa, muscle and a subset of neuronal cells in CNS showed strong cytoplasmic immunoreactivity. Parts of the intestine, endocrine glands, renal tubuli and bladder displayed moderate positivity. Remaining normal tissues were weakly stained or negative.

ANTIBODY RELIABILITY

? »

Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
HPA036403
SHOW MORE

RNA AND PROTEIN EXPRESSION SUMMARY

? »
RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Skeletal muscle

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

? »

Organ

Expression



RNA EXPRESSION OVERVIEW

? »
HPA dataset
RNA tissue category:  Tissue enhanced (skin, thyroid gland)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enhanced (thyroid gland)

Organ

Expression



GENE INFORMATION

? »

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 BROWSER

? »
 
 
 
ENST00000353809
 
ENST00000354638
 
ENST00000431101
 
ENST00000445578
 
 
 
 


PROTEIN INFORMATION

? »

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