Homo sapiens Gene: TMEM216

Summary
InnateDB Gene IDBG-50132.5
Last Modified 2012-02-14   [Report errors or provide feedback]
Gene Symbol TMEM216
Gene Name transmembrane protein 216
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000187049
Encoded Proteins
IDBP-50134 transmembrane protein 216
IDBP-231789 transmembrane protein 216
IDBP-587618 transmembrane protein 216
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: 61159159-61166335
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 4 experimentally validated interaction(s) in this database.
Experimentally validated
Total 4 [view]
Protein‑Protein  2
[view]
Protein‑DNA 1
[view]
Protein‑RNA 1
[view]
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
 
Gene Ontology
Accession GO Term
Molecular Function
Biological Process
GO:0042384 cilium assembly
GO:0060271 cilium morphogenesis
Cellular Component
GO:0005929 cilium
GO:0005932 microtubule basal body
GO:0016021 integral to membrane
GO:0035869 ciliary transition zone
GO:0036038 TCTN-B9D complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID Gene Order Method Confidence Comments
ENSMUSG00000024667 Ortholuge SSD Ortholog Ortholog supports species divergence
ENSBTAG00000021517 Not yet available Ortholuge SSD Ortholog Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q9P0N5 
TrEMBL J3QT25
UniProt Splice Variant
Entrez Gene 51259 
UniGene Hs.26745
RefSeq NM_001173990  NM_001173991  NM_016499 
HUGO 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