TMEM63B

Chr 6

transmembrane protein 63B

Also known as: C6orf110, DEE118, LBDD, hTMEM63B

NCBI Gene: 55362 ENSG00000137216 UniProt: Q5T3F8

The TMEM63B protein functions as a mechanosensitive and osmosensitive cation channel that is essential for respiratory function, hearing, and cellular volume regulation, and also acts as a phospholipid scramblase in response to membrane structural changes. Mutations cause developmental and epileptic encephalopathy 118 with autosomal dominant inheritance. The gene is highly constrained against loss-of-function variants (pLI 1.0, LOEUF 0.168), reflecting its critical role in early development and essential physiological processes.

ResearchSummary from RefSeq, OMIM, UniProt

Enables calcium-activated cation channel activity; mechanosensitive monoatomic cation channel activity; and phospholipid scramblase activity. Predicted to be involved in several processes, including drinking behavior; intestinal stem cell homeostasis; and surfactant secretion. Located in actin cytoskeleton and bounding membrane of organelle. Is active in plasma membrane. Implicated in developmental and epileptic encephalopathy and developmental and epileptic encephalopathy 118. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtDevelopmental and epileptic encephalopathy 118

Clinical highlights

Interpreting a novel variant

Gain of function is the curated mechanism (Gene2Phenotype), so a variant that simply removes the protein may not be the pathogenic class here — missense variants in functional domains often carry more weight.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.17

LOEUF· LoF intol.

GOF*

Mechanism· G2P

Some data sources returned errors (1)

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