Homo sapiens Gene: TMEM216
Summary
InnateDB Gene IDBG-50132.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TMEM216
Gene Name transmembrane protein 216
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000187049
Encoded Proteins
transmembrane protein 216
transmembrane protein 216
transmembrane protein 216
Protein Structure
Entrez Gene
Summary This locus encodes a transmembrane domain-containing protein. Mutations at this locus have been associated with Meckel-Gruber Syndrome Type 2, and Joubert Syndrome 2, also known as Cerebello-oculorenal Syndrome 2. [provided by RefSeq, Aug 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:61391687-61398863
Strand Forward strand
Band q12.2
Transcripts
ENST00000334888 ENSP00000334844
ENST00000398979 ENSP00000381950
ENST00000515837 ENSP00000440638
ENST00000544795
ENST00000541473
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:0035869 ciliary transition zone
GO:0036038 TCTN-B9D complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Cross-References
SwissProt Q9P0N5
TrEMBL J3QT25
UniProt Splice Variant
Entrez Gene 51259
UniGene Hs.26745
RefSeq NM_001173990 NM_001173991 NM_016499 XM_005274039
HUGO HGNC:25018
OMIM 613277
CCDS CCDS53640
HPRD 14439
IMGT
EMBL AF151078 AK303687 AP003108 BC011010 CR457166
GenPept AAF36164 AAH11010 BAH14017 CAG33447
ImmGen TMEM216 (murine)
RNA Seq Atlas 51259