TSPAN6

Chr X

tetraspanin 6

Also known as: T245, TM4SF6, TSPAN-6

NCBI Gene: 7105 ENSG00000000003 UniProt: O43657 OMIM: 300191

TSPAN6 encodes a tetraspanin cell surface glycoprotein that negatively regulates immune signaling through retinoic acid-inducible gene I-like receptors by interacting with mitochondrial antiviral signaling complexes. Mutations cause X-linked intellectual disability with seizures and spasticity. The gene shows low constraint against loss-of-function variants.

OMIM ResearchSummary from RefSeq

The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. The protein encoded by this gene is a cell surface glycoprotein and is highly similar in sequence to the transmembrane 4 superfamily member 2 protein. It functions as a negative regulator of retinoic acid-inducible gene I-like receptor-mediated immune signaling via its interaction with the mitochondrial antiviral signaling-centered signalosome. This gene uses alternative polyadenylation sites, and multiple transcript variants result from alternative splicing. [provided by RefSeq, Jul 2013]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.98

LOEUF

Multiple*

Mechanism· predicted