OCA2 wt Allele

Preferred Label : OCA2 wt Allele;

NCIt synonyms : PED; SHEP1; Eye Color 3 (Brown) Gene; EYCL2; EYCL3; BEY; BEY1; BEY2; Pink-Eyed Dilution Gene; P Gene; Eye Color 2 (Central Brown) Gene; Oculocutaneous Albinism II Gene; D15S12; Oculocutaneous Albinism II (Pink-Eye Dilution Homolog, Mouse) Gene; P; OCA2 Melanosomal Transmembrane Protein wt Allele; EYCL; HCL3; Hair Color 3 (Brown) Gene; Total Brown Iris Pigmentation Gene; BOCA;

NCIt definition : Human OCA2 wild-type allele is located within 15q12-q13.1 and is approximately 344 kb in length. This allele, which encodes P protein, is involved in eye and skin color. Mutations in this gene are associated with type 2 oculocutaneous albinism.;

NCIt note : Ensembl reports the location as in the vicinity of 15q13.1.;

NCI Metathesaurus CUI : CL514361;

GenBank Accession Number : NM_000275;

Details

Origin ID

C131354;

UMLS CUI

C4321235;

Automatic exact mappings (from CISMeF team)
- Albinism, oculocutaneous, type II [OMIM Phenotype]
- Complement factor P [LOINC component]
- Lower case Roman letter p (qualifier value) [SNOMED CT concept]
- Mesoderm development lrp chaperone [OMIM gene]
- OCA2 melanosomal transmembrane protein [ORDO Gene]
- Oca2 melanosomal transmembrane protein [OMIM gene]
- P NOS Ag [LOINC component]
- PED [EDAM format]
- Paroxysmal exertion-induced dyskinesia [ORDO Disease]
- Proliferation and apoptosis adaptor protein 15 [OMIM gene]
- Properdin (substance) [SNOMED CT concept]
- Pupil [LOINC System]
- Sh2 domain-containing protein 3c [OMIM gene]
- Skin/hair/eye pigmentation, variation in, 1 [OMIM Phenotype]
- Tumor staging descriptor p (tumor staging) [SNOMED CT concept]
- Upper case Roman letter P (qualifier value) [SNOMED CT concept]
- mesoderm development LRP chaperone [ORDO Gene]
- ophthalmic solutions [MeSH Descriptor]
- phosphorus [Radlex concept]
- probability [MeSH Descriptor]
- pupil [MeSH Descriptor]
OMIM relation
- Oca2 melanosomal transmembrane protein [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Ion Transport Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Melanogenesis [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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