LIPE

Chr 19AR

lipase E, hormone sensitive type

Also known as: AOMS4, FPLD6, HSL, LHS, REH

NCBI Gene: 3991ENSG00000079435UniProt: Q05469OMIM: 151750

This gene encodes hormone-sensitive lipase, which hydrolyzes triglycerides to free fatty acids in adipose tissue and converts cholesteryl esters to free cholesterol for steroid hormone production in steroidogenic tissues. Mutations cause familial partial lipodystrophy type 6, inherited in an autosomal recessive pattern. The gene is not highly constrained against loss-of-function variants.

OMIMResearchSummary from RefSeq, OMIM, UniProt
DNmechanismARLOEUF 0.851 OMIM phenotype
Clinical Summary— LIPE
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Gene-Disease Validity (ClinGen)
LIPE-related familial partial lipodystrophy · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

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Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available
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
0.85LOEUF
pLI 0.000
Z-score 2.30
OE 0.61 (0.44–0.85)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
0.95Z-score
OE missense 0.89 (0.83–0.96)
582 obs / 650.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.61 (0.44–0.85)
0≤0.351.4
Missense OE0.89 (0.83–0.96)
0≤0.61.4
Synonymous OE0.99
0≤1.21.6
LoF obs/exp: 24 / 39.7Missense obs/exp: 582 / 650.3Syn Z: 0.12
DN
0.6357th %ile
GOF
0.6051th %ile
LOF
0.3648th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

LIPE · protein map & ClinVar variants

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

3D Protein StructureAlphaFold
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
PBK-Loaded secretory autophagosomes drive radiotherapy-induced systemic adipose depletion via MAPK/ERK-PRKA/PKA-LIPE/HSL signaling: a therapeutic target for esophageal cancer cachexia.
Li Z et al.·Autophagy
2026
Determinants of insect repellent use to prevent dengue infection among travelers visiting Lipe island, Thailand: A cross-sectional survey.
Sabookaew P et al.·Travel Med Infect Dis
2026
Exosome-Derived lncRNA LIPE-AS1 Enhances Oocytes Maturation and Ameliorates Diminished Ovarian Reserve via the miR-330-5p/HDAC3 Axis.
Li J et al.·J Biochem Mol Toxicol
2025
Interesting Case of Familial Partial Lipodystrophy Syndrome (Type 6) with LIPE Gene Defect: A Case Report.
Mohan V et al.·J Assoc Physicians India
2025Case report
TMEM132C and LIPE protein molecules drive synovial hyperplasia via the PPARγ signaling axis: Mechanistic insights into core pathogenic proteins in rheumatoid arthritis.
Cheng F et al.·Int J Biol Macromol
2025
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