Homo sapiens Gene: TMEM67
Summary
InnateDB Gene IDBG-28665.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TMEM67
Gene Name transmembrane protein 67
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000164953
Encoded Proteins
transmembrane protein 67
transmembrane protein 67
transmembrane protein 67
transmembrane protein 67
transmembrane protein 67
transmembrane protein 67
transmembrane protein 67
transmembrane protein 67
transmembrane protein 67
transmembrane protein 67
transmembrane protein 67
transmembrane protein 67
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The protein encoded by this gene localizes to the primary cilium and to the plasma membrane. The gene functions in centriole migration to the apical membrane and formation of the primary cilium. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Meckel syndrome type 3 (MKS3) and Joubert syndrome type 6 (JBTS6). [provided by RefSeq, Nov 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 8:93754844-93819234
Strand Forward strand
Band q22.1
Transcripts
ENST00000323130 ENSP00000314488
ENST00000409623 ENSP00000386966
ENST00000453321 ENSP00000389998
ENST00000452276 ENSP00000388671
ENST00000453906 ENSP00000403035
ENST00000455946 ENSP00000416339
ENST00000425545
ENST00000498673 ENSP00000430232
ENST00000518319 ENSP00000430289
ENST00000474944
ENST00000475305
ENST00000521222 ENSP00000429925
ENST00000481620
ENST00000521065 ENSP00000427947
ENST00000521517 ENSP00000430740
ENST00000496213
ENST00000520634
ENST00000520680 ENSP00000428785
ENST00000523230
ENST00000519845
ENST00000518896
ENST00000463467
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 3 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 1 [view]
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0031005 filamin binding
GO:0051082 unfolded protein binding
Biological Process
GO:0010826 negative regulation of centrosome duplication
GO:0030433 ER-associated ubiquitin-dependent protein catabolic process
GO:0042384 cilium assembly
GO:0060271 cilium morphogenesis
Cellular Component
GO:0005789 endoplasmic reticulum membrane
GO:0005813 centrosome
GO:0016021 integral component of membrane
GO:0030659 cytoplasmic vesicle membrane
GO:0036038 TCTN-B9D complex
GO:0060170 ciliary membrane
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
TrEMBL C9JRQ8 E5RG10
UniProt Splice Variant
Entrez Gene 91147
UniGene Hs.116240
RefSeq NM_153704 NM_001142301 XM_006716687 XM_006716686
HUGO HGNC:28396
OMIM 609884
CCDS CCDS6258 CCDS47893
HPRD 11324
IMGT
EMBL AC010834
GenPept
RNA Seq Atlas 91147