COL5A2 wt Allele

Preferred Label : COL5A2 wt Allele;

NCIt synonyms : EDSC; EDSCL2; Collagen, Type V, Alpha 2 Gene; Collagen, Type V, Alpha-2 Gene; Collagen, Fetal Membrane, A Polypeptide Gene; Collagen Type V Alpha 2 Chain wt Allele;

NCIt definition : Human COL5A2 wild-type allele is located in the vicinity of 2q32.2 and is approximately 193 kb in length. This allele, which encodes collagen alpha-2(V) chain protein, plays a role in the formation of fibrillar collagen and the extracellular matrix. Mutation in the gene are associated with Ehlers-Danlos syndrome classic type 2.;

NCI Metathesaurus CUI : CL1643230;

GenBank Accession Number : Y14690;

Details

Origin ID

C177529;

UMLS CUI

C5443969;

Automatic exact mappings (from CISMeF team)
- Classical Ehlers-Danlos syndrome [ORDO Disease]
- Ehlers-danlos syndrome, classic type, 2 [OMIM Phenotype]
OMIM relation
- Collagen, type V, alpha-2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 2q32.2 [NCIt concept]
gene_is_element_in_pathway
- Integrin Angiogenesis Pathway [NCIt concept]
- Syndecan-1-Mediated Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Adhesion Process [NCIt concept]
- Cell Growth [NCIt concept]
- Cell Movement [NCIt concept]
- Cell-Matrix Adhesion Process [NCIt concept]
- Eye Development [NCIt concept]
- Morphogenesis [NCIt concept]
- Organogenesis [NCIt concept]
- Wound Repair [NCIt concept]

Keyword's position in hierarchy(ies) :

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