TECTA wt Allele

Preferred Label : TECTA wt Allele;

NCIt synonyms : Tectorin, Alpha Gene; DFNB21; DFNA12; DFNA8; Tectorin Alpha wt Allele;

NCIt definition : Human TECTA wild-type allele is located within 11q22-q24 and is approximately 90 kb in length. This allele, which encodes alpha-tectorin protein, is involved in the structure of the tectorial membrane. Mutation of the gene is associated with autosomal dominant deafness 8/12 and autosomal recessive deafness 21.;

NCIt note : There is a report of a chromosomal aberration involving the TECTA gene and the TBCEL gene, which is associated with breast cancer. (COSMIC);

GenBank Accession Number : AF055136;

Details

Origin ID

C114417;

UMLS CUI

C3813718;

Automatic exact mappings (from CISMeF team)
- Deafness, autosomal dominant 12 [OMIM Phenotype]
- Deafness, autosomal recessive 21 [OMIM Phenotype]
- autosomal dominant nonsyndromic deafness 12 [DO Concept]
- autosomal recessive nonsyndromic deafness 21 [DO Concept]
- deafness, autosomal dominant 12 [MeSH Supplementary Concept]
- deafness, autosomal recessive 21 [MeSH Supplementary Concept]
- tectorin alpha [ORDO Gene]
OMIM relation
- Tectorin, alpha [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_plays_role_in_process
- Cell Adhesion Process [NCIt concept]
- Cell Growth [NCIt concept]
- Cell Movement [NCIt concept]
- Hearing [NCIt concept]
- Morphogenesis [NCIt concept]
- Organogenesis [NCIt concept]
- Wound Repair [NCIt concept]

Keyword's position in hierarchy(ies) :

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