OCA2 (Gene)

Organism:

Homo sapiens

Synonyms:BEY, BEY1, BEY2, BOCA, D15S12, ENTREZ:4948, EYCL, EYCL2, EYCL3, HCL3, HGNC:8101, MIM:611409, NM_000275, NM_001300984, NP_000266, NP_001287913, OCA2 melanosomal transmembrane protein, OCA2, P, PED, SHEP1, XM_011521640, XM_017022255, XM_017022256, XM_017022257, XM_017022258, XM_017022259, XM_017022260, XM_017022261, XM_017022262, XM_017022263, XM_017022264, XM_017022265, XP_011519942, XP_016877744, XP_016877745, XP_016877746, XP_016877747, XP_016877748, XP_016877749, XP_016877750, XP_016877751, XP_016877752, XP_016877753, XP_016877754, XR_001751294

Id:ENSG00000277361

Description:OCA2 melanosomal transmembrane protein [Source:HGNC Symbol;Acc:HGNC:8101]

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]

Analyze

CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View OCA2's neighborhood in the knowledge graph.

Submit

Playbook Workflow Builder: Gene-Centric Workflow

View Gene-Centric information about the gene from a pre-built PWB workflow. View the workflow with OCA2.

CFDE Gene-Centric Appyter

The CFDE Gene Centric Appyter Resolves and Displays Gene-Centric information from CFDE APIs. Execute the Appyter using OCA2.

Submit

GDLPA Landing Pages Links

The Gene and Drug Landing Page Aggregator (GDLPA) finds links to primary and secondary source information from CFDE and other resources. Discover landing pages for OCA2.

Submit

Playbook Workflow Builder

The Playbook Workflow Builder helps you interactively construct workflows leveraging CFDE APIs without code. Start a new workflow with OCA2.

Results found

Linked to

	Label	Description
	Infertility Phenotype (Entity type)	A Phenotype
	Autism Phenotype (Entity type)	Autism is a neurodevelopmental disorder characterized by impaired social interaction and communicati...
	Sleep apnea Phenotype (Entity type)	An intermittent cessation of airflow at the mouth and nose during sleep is known as sleep apnea. Apn...
	Osteoporosis Phenotype (Entity type)	Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural...
	Obesity Phenotype (Entity type)	Accumulation of substantial excess body fat.
	Small for gestational age Phenotype (Entity type)	Smaller than normal size according to sex and gestational age related norms, defined as a weight bel...

Infertility

Phenotype (Entity type)

A Phenotype

Autism

Phenotype (Entity type)

Autism is a neurodevelopmental disorder characterized by impaired social interaction and communicati...

Sleep apnea

Phenotype (Entity type)

An intermittent cessation of airflow at the mouth and nose during sleep is known as sleep apnea. Apn...

Osteoporosis

Phenotype (Entity type)

Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural...

Obesity

Phenotype (Entity type)

Accumulation of substantial excess body fat.

Small for gestational age

Phenotype (Entity type)

Smaller than normal size according to sex and gestational age related norms, defined as a weight bel...

DISPLAY PER PAGE

CFDE Workbench

Consortium

Community

Resources

@CFDE Workbench 2026

The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.

Consortium

Community

Resources

CFDE Workbench

The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.

@CFDE Workbench 2026

This repository is under review for potential modification in compliance with Administration directives.