JPT2

Chr 16

Jupiter microtubule associated homolog 2

Also known as: C16orf34, HN1L, L11

NCBI Gene: 90861 ENSG00000206053 UniProt: Q9H910

The protein binds nicotinic acid adenine dinucleotide phosphate (NAADP) and enables NAADP-evoked intracellular calcium release by conferring NAADP sensitivity to two pore channels and activating calcium release from the endoplasmic reticulum through ryanodine receptors. Mutations in JPT2 cause autosomal recessive developmental and epileptic encephalopathy with movement abnormalities, characterized by early-onset seizures, developmental delay, and movement disorders affecting the central nervous system.

ResearchSummary from RefSeq, UniProt

Involved in endocytosis involved in viral entry into host cell and regulation of calcium-mediated signaling. Located in cytosol and nucleus. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

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

0.86

LOEUF

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Mechanism

Some data sources returned errors (1)

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