LPIN2

Chr 18

lipin 2

Also known as: CRMO1, MJDS

NCBI Gene: 9663ENSG00000101577UniProt: Q92539

Mouse studies suggest that this gene functions during normal adipose tissue development and may play a role in human triglyceride metabolism. This gene represents a candidate gene for human lipodystrophy, characterized by loss of body fat, fatty liver, hypertriglyceridemia, and insulin resistance. [provided by RefSeq, Jul 2008]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMajeed syndrome

Clinical highlights

Gene-disease validity (ClinGen)
Majeed syndrome · ARDefinitivesufficient evidence for diagnostic panels
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
12
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.51
LOEUF
—
Mechanism
📖
GeneReview available — LPIN2
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.51LOEUF
pLI 0.000
Z-score 4.33
OE 0.34 (0.23–0.51)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
0.98Z-score
OE missense 0.88 (0.81–0.95)
431 obs / 492.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.34 (0.23–0.51)
0≤0.351.4
Missense OE?0.88 (0.81–0.95)
0≤0.61.4
Synonymous OE?1.10
0≤1.21.6
LoF obs/exp: 17 / 50.0Missense obs/exp: 431 / 492.4Syn Z: -1.14

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

LPIN2 · 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