Version 5.4
Homo sapiens Protein: TMEM216
Summary
InnateDB Protein IDBP-50134.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TMEM216
Protein Name transmembrane protein 216
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000334844
InnateDB Gene IDBG-50132 (TMEM216)
Protein Structure
UniProt Annotation
Function Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition. {ECO:0000269PubMed:22282472}.
Subcellular Localization Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269PubMed:22282472}. Note=Localizes at the transition zone, a region between the basal body and the ciliary axoneme.
Disease Associations Joubert syndrome 2 (JBTS2) [MIM:608091]: A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. {ECO:0000269PubMed:20036350, ECO:0000269PubMed:20512146, ECO:0000269PubMed:22282472, ECO:0000269PubMed:22425360}. Note=The disease is caused by mutations affecting the gene represented in this entry.Meckel syndrome 2 (MKS2) [MIM:603194]: A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. {ECO:0000269PubMed:20512146}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 1 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
GO:0042384 cilium assembly
GO:0060271 cilium morphogenesis
Cellular Component
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0005929 cilium
GO:0016021 integral component of membrane
GO:0036038 TCTN-B9D complex
Protein Structure and Domains
PDB ID
InterPro IPR019184 Uncharacterised protein family, transmembrane-17
PFAM PF09799
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9P0N5
PhosphoSite PhosphoSite-
TrEMBL
UniProt Splice Variant
Entrez Gene 51259
UniGene Hs.26745
RefSeq NP_001167462
HUGO HGNC:25018
OMIM 613277
CCDS
HPRD 14439
IMGT
EMBL AF151078 AK303687 AP003108 BC011010 CR457166
GenPept AAF36164 AAH11010 BAH14017 CAG33447

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca