TMEM138 wt Allele

Preferred Label : TMEM138 wt Allele;

NCIt synonyms : HSPC196; Transmembrane Protein 138 wt Allele; HSPC198; JBTS16;

NCIt definition : Human TMEM138 wild-type allele is located in the vicinity of 11q12.2 and is approximately 8 kb in length. This allele, which encodes transmembrane protein 138, is involved in ciliogenesis.;

NCIt note : Mutation of the TMEM138 gene may be associated with Joubert syndrome type 2. (Science. 2012; 335:966-969.);

GenBank Accession Number : AF151030;

Details

Origin ID

C101659;

UMLS CUI

C3542423;

Automatic exact mappings (from CISMeF team)
- Joubert syndrome 16 [OMIM Phenotype]
- transmembrane protein 138 [ORDO Gene]
OMIM relation
- Transmembrane protein 138 [OMIM gene]
See also inter- (CISMeF)
- Joubert syndrome 16 [DO Concept]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 11q12.2 [NCIt concept]
gene_plays_role_in_process
- Cell Surface Extension [NCIt concept]

Keyword's position in hierarchy(ies) :

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