1. Gene
  2. Tmem216 - transmembrane protein 216 Gene

Tmem216 - transmembrane protein 216 Gene

Mus musculus

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

Gene ID: 68642 | Gene type: protein coding

About Tmem216

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 Reference Source
involved in cilium assembly IMP
IMP: Inferred from mutant phenotype
21725307 MGI
Cellular Component GO Annotation Evidence Reference 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

Orthologs Information

Species Symbol Source ID
Homo sapiens Tmem216 NCBI NCBI:51259