FABP2

Chr 4

fatty acid binding protein 2

Also known as: FABPI, I-FABP

NCBI Gene: 2169ENSG00000145384UniProt: P12104

The protein encoded by this gene is an intracellular fatty acid-binding protein that participates in the uptake, intracellular metabolism, and transport of long-chain fatty acids. The encoded protein is also involved in the modulation of cell growth and proliferation. This protein binds saturated long-chain fatty acids with high affinity, and may act as a lipid sensor to maintain energy homeostasis. [provided by RefSeq, Aug 2017]

ResearchGenerating clinical summary…
4
Active trials
65
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.50
LOEUF
DN
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
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.50LOEUF
pLI 0.005
Z-score 0.73
OE 0.68 (0.33–1.50)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.71Z-score
OE missense 0.76 (0.61–0.95)
52 obs / 68.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.68 (0.33–1.50)
0≤0.351.4
Missense OE?0.76 (0.61–0.95)
0≤0.61.4
Synonymous OE?0.97
0≤1.21.6
LoF obs/exp: 4 / 5.9Missense obs/exp: 52 / 68.6Syn Z: 0.13

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

FABP2 · protein map & ClinVar variants

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

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