JAKMIP2

Chr 5

janus kinase and microtubule interacting protein 2

Also known as: JAMIP2, NECC1

NCBI Gene: 9832ENSG00000176049UniProt: Q96AA8

The protein encoded by this gene is reported to be a component of the Golgi matrix. It may act as a golgin protein by negatively regulating transit of secretory cargo and by acting as a structural scaffold of the Golgi. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

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.
0
Active trials
5
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.18
LOEUF· LoF intol.
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Dual constrained — LoF & missense intolerant
LoF Constraint?
0.18LOEUF
pLI 1.000
Z-score 6.16
OE 0.08 (0.04–0.18)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
3.36Z-score
OE missense 0.55 (0.49–0.61)
236 obs / 432.8 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios?
LoF OE?0.08 (0.04–0.18)
0≤0.351.4
Missense OE?0.55 (0.49–0.61)
0≤0.61.4
Synonymous OE?1.03
0≤1.21.6
LoF obs/exp: 4 / 51.9Missense obs/exp: 236 / 432.8Syn Z: -0.26

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

JAKMIP2 · 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