EXPH5

Chr 11

exophilin 5

Also known as: EBS4, SLAC2-B, SLAC2B

NCBI Gene: 23086 ENSG00000110723 UniProt: Q8NEV8

The protein is a Rab-27B effector involved in exosome secretion and intracellular vesicle trafficking. Mutations cause epidermolysis bullosa simplex 4, a skin fragility disorder with localized or generalized intermediate severity, inherited in an autosomal recessive pattern. The gene is not highly constrained against loss-of-function variants.

ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is a member of the synaptotagmin-like protein (Slp) family lacking a C2 domain. It contains an N-terminal synaptotagmin-like homology domain (SHD), and is a ras-related protein Rab-27B effector protein. This protein is thought to be involved in exosome secretion and intracellular vesicle trafficking. Reduced expression of this gene results in keratin filament defects. Mutations in this gene have been associated with some cases of epidermolysis bullosa, an inherited skin fragility disorder. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtEpidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.94

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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