Homo sapiens Gene: TMC8
Summary
InnateDB Gene IDBG-70424.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TMC8
Gene Name transmembrane channel-like 8
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000167895
Encoded Proteins
transmembrane channel-like 8
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary Epidermodysplasia verruciformis (EV) is an autosomal recessive dermatosis characterized by abnormal susceptibility to human papillomaviruses (HPVs) and a high rate of progression to squamous cell carcinoma on sun-exposed skin. EV is caused by mutations in either of two adjacent genes located on chromosome 17q25.3. Both of these genes encode integral membrane proteins that localize to the endoplasmic reticulum and are predicted to form transmembrane channels. This gene encodes a transmembrane channel-like protein with 8 predicted transmembrane domains and 3 leucine zipper motifs. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 17:78130770-78142968
Strand Forward strand
Band q25.3
Transcripts
ENST00000318430 ENSP00000325561
ENST00000590184
ENST00000591144
ENST00000591003
ENST00000592399
ENST00000591983
ENST00000590426 ENSP00000467460
ENST00000589691 ENSP00000467482
ENST00000590799 ENSP00000465049
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
GO:0005102 receptor binding
GO:0005515 protein binding
Biological Process
GO:0001558 regulation of cell growth
GO:0006811 ion transport
GO:0032091 negative regulation of protein binding
GO:0032460 negative regulation of protein oligomerization
GO:0055069 zinc ion homeostasis
GO:1902041 regulation of extrinsic apoptotic signaling pathway via death domain receptors
Cellular Component
GO:0005615 extracellular space
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005794 Golgi apparatus
GO:0016021 integral component of membrane
GO:0031965 nuclear membrane
GO:0070062 extracellular vesicular exosome
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.592102
RefSeq NM_152468 XM_006721725
HUGO
OMIM
CCDS CCDS32749
HPRD 08387
IMGT
EMBL
GenPept
RNA Seq Atlas