Tmem216 - transmembrane protein 216 Gene

Also Known as 1110017C22Rik; 2810441K11Rik; 4921533J23Rik; A930021F15Rik

Species: Mus musculus

Gene Type: protein coding
Gene ID: 68642

Summary

This gene encodes a transmembrane protein which is involved in regulation of signaling and trafficking of associated proteins. In humans, mutations in this gene are associated with ciliopathies including Joubert, Meckel and related syndromes. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2013]

Tmem216 Products (3)

mRNA Protein Name
NM_001277860.1 NP_001264789.1 transmembrane protein 216 isoform 1
NM_001277861.1 NP_001264790.1 transmembrane protein 216 isoform 2
NM_026798.3 NP_081074.1 transmembrane protein 216 isoform 2

Gene Ontology

  • Biological Process
  • Cellular Component
Biological Process GO Annotation Evidence References Source
involved in cilium assembly IMP
IMP: Inferred from mutant phenotype
21725307 MGI
Cellular Component GO Annotation Evidence References Source
part of MKS complex IDA
IDA: Inferred from direct assay
21725307 MGI
located in ciliary transition zone IMP
IMP: Inferred from mutant phenotype
21725307 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

transmembrane protein 216

  • thymus atrophy-related protein

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS14699 TMEM216 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Homo sapiens Tmem216 NCBI NCBI:51259