FABP7

Chr 6

fatty acid binding protein 7

Also known as: B-FABP, BLBP, FABPB, MRG

NCBI Gene: 2173ENSG00000164434UniProt: O15540

The gene encodes a small, highly conserved cytoplasmic protein that bind long-chain fatty acids and other hydrophobic ligands. The encoded protein is important in the establishment of the radial glial fiber in the developing brain. Alternative splicing and promoter usage results in multiple transcript variants encoding different isoforms. Pseudogenes of this gene are found on multiple chromosomes. [provided by RefSeq, Jan 2016]

42
ClinVar variants
21
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— FABP7
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
21 Pathogenic / Likely Pathogenic· 19 VUS of 42 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.65LOEUF
pLI 0.001
Z-score 0.40
OE 0.83 (0.43–1.65)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.65Z-score
OE missense 0.78 (0.63–0.98)
54 obs / 69.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.83 (0.43–1.65)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.78 (0.63–0.98)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.68
0≤1.21.6
LoF obs/exp: 5 / 6.1Missense obs/exp: 54 / 69.1Syn Z: 1.21

ClinVar Variant Classifications

42 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic17
Likely Pathogenic4
VUS19
Benign2
17
Pathogenic
4
Likely Pathogenic
19
VUS
2
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
17
0
17
Likely Pathogenic
0
0
4
0
4
VUS
0
15
4
0
19
Likely Benign
0
0
0
0
0
Benign
0
0
0
2
2
Total01525242

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

FABP7 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Copper metabolism in cell death and autophagy.
Xue Q et al.·Autophagy
2023Review
Cancer cells avoid ferroptosis induced by immune cells via fatty acid binding proteins.
Freitas-Cortez MA et al.·Mol Cancer
2025
Deficiency of FABP7 Triggers Premature Neural Differentiation in Idiopathic Normocephalic Autism Organoids.
Han X et al.·Adv Sci (Weinh)
2025
FABP7 is increased in progressive multiple sclerosis and induces a pro-inflammatory phenotype in monocytes through a glycolytic switch.
Patel R et al.·Nat Commun
2025
Fatty acid-binding proteins in cancers.
Wu L et al.·Int J Surg
2025Review
Autoantibodies in patients with fibromyalgia syndrome.
Seefried S et al.·Pain
2025Cohort
Integrated Transcriptome Profiling and Pan-Cancer Analyses Reveal Oncogenic Networks and Tumor-Immune Modulatory Roles for FABP7 in Brain Cancers.
Lee Y et al.·Int J Mol Sci
2024
Potential safety implications of fatty acid-binding protein inhibition.
Warren WG et al.·Toxicol Appl Pharmacol
2024Review
APOEε4 alters ApoE and Fabp7 in frontal cortex white matter in prodromal Alzheimer's disease.
Moreno-Rodriguez M et al.·J Neuroinflammation
2025
FABP7 Expression Modulates the Response of Astrocytes to Induced Endotoxemia.
Bresque M et al.·Glia
2025
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Comprehensive epigenomic and transcriptomic analysis identifies FABP7 and CLIC6 as methylation-driven prognostic biomarker for a novel breast cancer subtype.
Fahima K et al.·Comput Biol Med
2026
FABP7 Enhances Endometrial Cancer Cell Migration and Stemness by Activating the Wnt/β-catenin Pathway.
Xu Y et al.·Biochem Genet
2025
A Neural-Glial Model of the ApoE-SORT1-FABP7 Axis Tied to Sleep Disruption and Alzheimer's Disease Pathophysiology.
Flores CC et al.·Biomolecules
2025🔓 Open AccessFunctional
Perfluorooctanoic acid (PFOA) exposure induced ferroptosis through the PPARα/FABP7 signaling pathway in the liver of spotted sea bass (Lateolabrax maculatus).
Guo J et al.·Fish Shellfish Immunol
2026
Astrocyte FABP7 Modulates Seizure Activity-Dependent Protein Expression in Mouse Brain.
Berg AP et al.·Neuroglia
2025🔓 Open AccessFunctional
Top 5 resultsSearch Europe PMC ↗

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