Homo sapiens Gene: TMEM231
Summary
InnateDB Gene IDBG-42616.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TMEM231
Gene Name transmembrane protein 231
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000205084
Encoded Proteins
transmembrane protein 231
transmembrane protein 231
transmembrane protein 231
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a transmembrane protein, which is a component of the B9 complex involved in the formation of the diffusion barrier between the cilia and plasma membrane. Mutations in this gene cause Joubert syndrome (JBTS). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013]
Gene Information
Type Protein coding
Genomic Location Chromosome 16:75536744-75556286
Strand Reverse strand
Band q23.1
Transcripts
ENST00000258173 ENSP00000258173
ENST00000565067 ENSP00000457254
ENST00000568377 ENSP00000476267
ENST00000564576
ENST00000562410 ENSP00000454582
ENST00000570006 ENSP00000455520
ENST00000561809
ENST00000569294
ENST00000564318
ENST00000615437 ENSP00000479977
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 5 [view]
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
GO:0007224 smoothened signaling pathway
GO:0042384 cilium assembly
Cellular Component
GO:0016021 integral component of membrane
GO:0035869 ciliary transition zone
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
UniProt Splice Variant
Entrez Gene
UniGene Hs.156784
RefSeq NM_001077416 NM_001077418
HUGO
OMIM
CCDS CCDS45530
HPRD
IMGT
EMBL
GenPept
RNA Seq Atlas