Human Gene TMC8 (ENST00000318430.10) from GENCODE V44
Description: Homo sapiens transmembrane channel like 8 (TMC8), mRNA. (from RefSeq NM_152468) RefSeq Summary (NM_152468): 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]. Gencode Transcript: ENST00000318430.10 Gencode Gene: ENSG00000167895.16 Transcript (Including UTRs) Position: hg38 chr17:78,130,771-78,142,968 Size: 12,198 Total Exon Count: 16 Strand: + Coding Region Position: hg38 chr17:78,131,589-78,141,112 Size: 9,524 Coding Exon Count: 15
ID:TMC8_HUMAN DESCRIPTION: RecName: Full=Transmembrane channel-like protein 8; AltName: Full=Epidermodysplasia verruciformis protein 2; SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein. TISSUE SPECIFICITY: Expressed in placenta, prostate and testis. DISEASE: Defects in TMC8 are a cause of epidermodysplasia verruciformis (EV) [MIM:226400]. It is a rare autosomal recessive genodermatosis associated with a high risk of skin carcinoma that results from an abnormal susceptibility to infection by specific human papillomaviruses. Infection leads to persistent wart-like or macular lesions. SIMILARITY: Belongs to the TMC family. SEQUENCE CAUTION: Sequence=BAC03459.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BC028076; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Aberrant splice sites; WEB RESOURCE: Name=TMC8base; Note=TMC8 mutation db; URL="http://bioinf.uta.fi/TMC8base/";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q8IU68
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
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
US Server
