GJB2 wt Allele

Preferred Label : GJB2 wt Allele;

NCIt synonyms : CX26; DFNB1; Gap Junction Protein, Beta 2, 26kDa Gene; Gap Junction Protein Beta 2 wt Allele; Gap Junction Protein, 26kD Gene; PPK; Gap Junction Protein, Beta-2 Gene; NSRD1; Gap Junction Protein, Beta 2, 26kD (Connexin 26) Gene; DFNA3; DFNA3A; HID; DFNB1A; KID; Gap Junction Protein, Beta 2, 26kDa (Connexin 26) Gene;

NCIt definition : Human GJB2 wild-type allele is located within 13q11-q12 and is approximately 6 kb in length. This allele, which encodes gap junction beta-2 protein, is involved in the assembly and function of gap junctions. Mutation in the gene is associated with syndromic deafness.;

NCIt note : Mutations in the GJB2 gene are associated with the following syndromes: Bart-Pumphrey syndrome; autosomal dominant deafness types 1A and 3A; hystrix-like ichthyosis with deafness; keratitis-ichthyosis-deafness syndrome; keratoderma, palmoplantar, with deafness; and Vohwinkel syndrome. (OMIM);

NCI Metathesaurus CUI : CL507987;

GenBank Accession Number : M86849;

Details

Origin ID

C127000;

UMLS CUI

C4283800;

Automatic exact mappings (from CISMeF team)
- Gap junction protein, beta-2 [OMIM gene]
- Hip [LOINC System]
- Hip [LOINC System]
- Kinesin family member 22 [OMIM gene]
- autosomal dominant nonsyndromic deafness 3A [DO Concept]
- autosomal recessive nonsyndromic deafness 1A [DO Concept]
- deafness, autosomal dominant 3A [MeSH Supplementary Concept]
- deafness, autosomal recessive 1A [MeSH Supplementary Concept]
- gap junction protein beta 2 [ORDO Gene]
- gap junction protein beta 6 [ORDO Gene]
- hip [MeSH Descriptor]
- keratoderma, palmoplantar [MeSH Descriptor]
- kinesin family member 22 [ORDO Gene]
OMIM relation
- Gap junction protein, beta-2 [OMIM gene]
See also inter- (CISMeF)
- Deafness, autosomal dominant 3a [OMIM Phenotype]
- Deafness, autosomal recessive 1a [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_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 13q11-q12 [NCIt concept]
gene_plays_role_in_process
- Hearing [NCIt concept]
- Intercellular Communication Process [NCIt concept]
- Intercellular Transport Process [NCIt concept]
- Ion Transport Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Restricted Diffusion [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]

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