MARVELD2 wt Allele

Preferred Label : MARVELD2 wt Allele;

NCIt synonyms : Deafness, Autosomal Recessive 49 Gene; FLJ30532; MRVLDC2; MARVEL (Membrane-Associating) Domain Containing 2 Gene; Tric; MARVEL Domain Containing 2 wt Allele; DFNB49; MARVD2;

NCIt definition : Human MARVELD2 wild-type allele is located in the vicinity of 5q13.2 and is approximately 29 kb in length. This allele, which encodes MARVEL domain-containing protein 2, is involved in tricellular tight junction formation. Mutation of the gene is associated with autosomal recessive deafness 49.;

NCI Metathesaurus CUI : CL1798792;

GenBank Accession Number : AK055094;

Details

Origin ID

C190133;

UMLS CUI

C5780749;

Automatic exact mappings (from CISMeF team)
- chaperonin-containing T-complex [GO term]
OMIM relation
- Marvel domain-containing protein 2 [OMIM gene]
See also inter- (CISMeF)
- Deafness, autosomal recessive 49 [OMIM Phenotype]
- autosomal recessive nonsyndromic deafness 49 [DO Concept]
- deafness, autosomal recessive 49 [MeSH Supplementary Concept]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
Validated automatic mappings to NTBT
- MARVEL domain containing 2 [ORDO Gene]
- Marvel domain-containing protein 2 [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Tight Junction Assembly Pathway [NCIt concept]
gene_plays_role_in_process
- Cell-Cell Adhesion Process [NCIt concept]
- Hearing [NCIt concept]

Keyword's position in hierarchy(ies) :

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