JKAMP

Chr 14

JNK1/MAPK8 associated membrane protein

Also known as: C14orf100, C24orf100, CDA06, HSPC213, HSPC327, JAMP, NEDSIL

NCBI Gene: 51528ENSG00000050130UniProt: Q9P055

Enables ubiquitin protein ligase binding activity. Involved in ERAD pathway. Predicted to be located in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtNeurodevelopmental disorder with seizures and impaired intellectual and language development

Clinical highlights

Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
4
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.62
LOEUF
LOF
Mechanism· G2P
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.62LOEUF
pLI 0.077
Z-score 2.69
OE 0.30 (0.15–0.62)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.55Z-score
OE missense 0.66 (0.56–0.77)
108 obs / 163.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.30 (0.15–0.62)
0≤0.351.4
Missense OE?0.66 (0.56–0.77)
0≤0.61.4
Synonymous OE?0.91
0≤1.21.6
LoF obs/exp: 5 / 16.9Missense obs/exp: 108 / 163.6Syn Z: 0.54

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

JKAMP · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

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