COL1A2 wt Allele

Preferred Label : COL1A2 wt Allele;

NCIt synonyms : OI4; Collagen Type I Alpha 2 Chain wt Allele; COL1A2; Osteogenesis Imperfecta Type IV Gene; Collagen, Type I, Alpha 2 Gene;

NCIt definition : Human COL1A2 wild-type allele is located in the vicinity of 7q22.1 and is approximately 37 kb in length. This allele, which encodes collagen alpha-2 (I) chain protein, plays a role in the structural integrity of tendons, ligaments and bones. Mutations in the gene are associated with atypical Marfan syndrome, Ehlers-Danlos syndrome types and osteogenesis imperfecta types.;

GenBank Accession Number : NM_000089;

Details

Origin ID

C52480;

UMLS CUI

C1704811;

OMIM relation
- Collagen, type I, alpha-2 [OMIM gene]
See also inter- (CISMeF)
- Osteogenesis imperfecta, type iv [OMIM Phenotype]
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_associated_with_disease
- Osteogenesis Imperfecta [NCIt concept]
- Osteoporosis [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- 7: 93668858-93705195 [NCIt concept]
gene_in_chromosomal_location
- 7q22.1 [NCIt concept]
gene_is_element_in_pathway
- Amoebiasis Pathway [NCIt concept]
- ECM-Receptor Interaction Signaling Pathway [NCIt concept]
- Focal Adhesion 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]
- Morphogenesis [NCIt concept]
- Organogenesis [NCIt concept]
- Wound Repair [NCIt concept]

Keyword's position in hierarchy(ies) :

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