JPH3

Chr 16

junctophilin 3

Also known as: CAGL237, HDL2, JP-3, JP3, TNRC22

NCBI Gene: 57338 ENSG00000154118 UniProt: Q8WXH2

The protein forms junctional membrane complexes that link the plasma membrane with the endoplasmic reticulum in brain neurons, providing structural foundation for cross-talk between cell surface and intracellular calcium release channels. CAG/CTG repeat expansions (40-59 repeats) in the 3' UTR cause Huntington disease-like 2 through a loss-of-function mechanism, inherited in an autosomal dominant pattern. The protein is brain-specific and functions in neurons involved in motor coordination and memory.

ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. CAG/CTG repeat expansion from normally 6-28 repeats to 40-59 repeats in the 3' UTR of this gene have been associated with Huntington disease-like 2 (HDL2). This gene is a member of the junctophilin gene family. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2016]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtHuntington disease-like 2

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.20

LOEUF· LoF intol.

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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