JPT2

Chr 16

Jupiter microtubule associated homolog 2

Also known as: C16orf34, HN1L, L11

NCBI Gene: 90861ENSG00000206053UniProt: Q9H910OMIM: 619241

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.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.86
Clinical Summary— JPT2
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.27) despite low pLI — interpret in context.
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.86LOEUF
pLI 0.233
Z-score 1.82
OE 0.27 (0.11–0.86)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
0.45Z-score
OE missense 0.88 (0.75–1.04)
98 obs / 111.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.27 (0.11–0.86)
0≤0.351.4
Missense OE0.88 (0.75–1.04)
0≤0.61.4
Synonymous OE0.83
0≤1.21.6
LoF obs/exp: 2 / 7.3Missense obs/exp: 98 / 111.3Syn Z: 0.85

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

JPT2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Systematic identification of microtubule lumen proteins reveals a taxane-sensitive luminal resident JPT2 regulating MEC17 accessibility.
Shao J et al.·Proc Natl Acad Sci U S A
2026
JPT2 in subclinical hypothyroidism-related miscarriage as a transcription co-factor: involvement of LEPR/STAT3 activation.
Zhou YY et al.·J Endocrinol Invest
2024
JPT2 Affects Trophoblast Functions and Macrophage Polarization and Metabolism, and Acts as a Potential Therapeutic Target for Recurrent Spontaneous Abortion.
Chen X et al.·Adv Sci (Weinh)
2024Open Access
Oxalate regulates crystal-cell adhesion and macrophage metabolism via JPT2/PI3K/AKT signaling to promote the progression of kidney stones.
Song Q et al.·J Pharm Anal
2024Open Access
Convergent activation of two-pore channels mediated by the NAADP-binding proteins JPT2 and LSM12.
Gunaratne GS et al.·Sci Signal
2023
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients