RAB27A wt Allele

Preferred Label : RAB27A wt Allele;

NCIt synonyms : RAS-Related Gene From Megakaryocyte Gene; RAB27; RAM; RAB27A, Member RAS Oncogene Family wt Allele; HsT18676; GS2;

NCIt definition : Human RAB27A wild-type allele is located within 15q15-q21.1 and is approximately 116 kb in length. This allele, which encodes ras-related protein Rab-27A, is involved in the maturation and release of lymphocytic granules. Mutation of the gene is associated with Griscelli syndrome 2.;

GenBank Accession Number : U38654;

Details

Origin ID

C119635;

UMLS CUI

C3890009;

Automatic exact mappings (from CISMeF team)
- Ccdc26 long noncoding rna [OMIM gene]
- Family with sequence similarity 103, member a1 [OMIM gene]
- Griscelli syndrome type 2 [DO Concept]
- Griscelli syndrome type 2 [ICD-11 More detail]
- Griscelli syndrome, type 2 [OMIM Phenotype]
- Patatin-like phospholipase domain-containing protein 4 [OMIM gene]
- RAB27A, member RAS oncogene family [ORDO Gene]
- Ras-associated protein rab27a [OMIM gene]
OMIM relation
- Ras-associated protein rab27a [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 15q15-q21.1 [NCIt concept]
gene_plays_role_in_process
- Exocytosis [NCIt concept]
- GTP Binding [NCIt concept]
- Hydrolysis [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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