FABP2
Chr 4fatty acid binding protein 2
Also known as: FABPI, I-FABP
The protein encoded by FABP2 is an intracellular fatty acid-binding protein that transports long-chain fatty acids and their acyl-CoA esters within cells, participates in triglyceride-rich lipoprotein synthesis, and functions as a lipid sensor for energy homeostasis. This gene is not well-established as a cause of pediatric neurogenetic disease, as it shows tolerance to loss-of-function variants (pLI = 0.005, LOEUF = 1.5) and primarily functions in intestinal fatty acid metabolism rather than neurological pathways.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
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
73 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 20 | 0 | 20 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 17 | 4 | 0 | 21 |
Likely Benign | 0 | 2 | 2 | 1 | 5 |
Benign | 0 | 1 | 21 | 2 | 24 |
| Total | 0 | 20 | 49 | 3 | 72 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in 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
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Tributyrin Treatment in Mild Alzheimer Disease: Assessment of Butyrate Effects Via the Gut-Brain
NOT YET RECRUITINGEffect of Synbiotic Supplementation on the Prevention of Mucositis in Cancer Patients Undergoing Chemotherapy
RECRUITINGButyric Acid Supplementation for Gut Improvement After Cardiac Surgery in Kids
NOT YET RECRUITINGTherapeutic Potential of a Synbiotic to Improve Mental Health in Subjects With Obesity.
RECRUITINGExternal Resources
Links to major genomics databases and tools