TMEM216 wt Allele

Preferred Label : TMEM216 wt Allele;

NCIt synonyms : HSPC244; MKS2; Cerebello-Oculo-Renal Syndrome 2 Gene; Transmembrane Protein 216 wt Allele; MGC13379; Meckel Syndrome, Type 2 Gene; JBTS2;

NCIt definition : Human TMEM216 wild-type allele is located in the vicinity of 11q13.1 and is approximately 7 kb in length. This allele, which encodes transmembrane protein 216, plays a role in the formation of cilium. Mutation of the gene is associated with Joubert syndrome type 2 and Meckel syndrome type 2.;

GenBank Accession Number : NM_001173991;

Details

Origin ID

C101662;

UMLS CUI

C3538789;

Automatic exact mappings (from CISMeF team)
- Joubert syndrome 2 [OMIM Phenotype]
- Joubert syndrome 2 [DO Concept]
- Meckel syndrome 2 [DO Concept]
- Meckel syndrome, type 2 [OMIM Phenotype]
- transmembrane protein 216 [ORDO Gene]
OMIM relation
- Transmembrane protein 216 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 11q13.1 [NCIt concept]
gene_plays_role_in_process
- Cell Surface Extension [NCIt concept]

Keyword's position in hierarchy(ies) :

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