InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: TMC8

Summary

InnateDB Protein

IDBP-70428.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

TMC8

Protein Name

transmembrane channel-like 8

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000325561

InnateDB Gene

IDBG-70424 (TMC8)

Protein Structure

UniProt Annotation

Function

Probable ion channel. {ECO:0000250}.

Subcellular Localization

Endoplasmic reticulum membrane {ECO:0000269PubMed:12426567}; Multi-pass membrane protein {ECO:0000269PubMed:12426567}.

Disease Associations

Epidermodysplasia verruciformis (EV) [MIM:226400]: 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. {ECO:0000269PubMed:12426567}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in placenta, prostate and testis. {ECO:0000269PubMed:12906855}.

Comments

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