FABP2

Summary

FABP2 (fatty acid binding protein 2, HGNC:3556) is a protein-coding gene on chromosome 4q26, encoding Fatty acid-binding protein, intestinal (P12104). FABPs are thought to play a role in the intracellular transport of long-chain fatty acids and their acyl-CoA esters.

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.

Source: NCBI Gene 2169 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 45 total
• Druggable target: yes — 5 molecules with ChEMBL bioactivity
• MANE Select transcript: NM_000134

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:3556
Approved symbol	FABP2
Name	fatty acid binding protein 2
Location	4q26
Locus type	gene with protein product
Status	Approved
Aliases	I-FABP
Ensembl gene	ENSG00000145384
Ensembl biotype	protein_coding
OMIM	134640
Entrez	2169

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000274024

RefSeq mRNA: 1 — MANE Select: NM_000134 NM_000134

CCDS: CCDS3712

Canonical transcript exons

ENST00000274024 — 4 exons

Exon	Start	End
ENSE00000970308	119322036	119322138
ENSE00000970309	119320670	119320842
ENSE00000970310	119319536	119319643
ENSE00000996901	119317250	119319091

Expression profiles

Bgee: expression breadth broad, 72 present calls, max score 92.79.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 3.7648 / max 3842.7183, expressed in 24 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
53755	3.4262	22
53754	0.3117	11
53758	0.0107	5
53756	0.0105	3
53757	0.0057	4

Top tissues by expression

243 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
mucosa of transverse colon	UBERON:0004991	92.79	gold quality
rectum	UBERON:0001052	91.71	gold quality
small intestine Peyer’s patch	UBERON:0003454	90.28	gold quality
jejunal mucosa	UBERON:0000399	89.62	gold quality
duodenum	UBERON:0002114	89.15	gold quality
small intestine	UBERON:0002108	88.89	gold quality
buccal mucosa cell	CL:0002336	87.66	gold quality
colonic mucosa	UBERON:0000317	79.65	gold quality
mucosa of sigmoid colon	UBERON:0004993	78.52	silver quality
transverse colon	UBERON:0001157	77.35	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	76.39	gold quality
parotid gland	UBERON:0001831	75.13	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	72.94	gold quality
intestine	UBERON:0000160	72.30	gold quality
adrenal tissue	UBERON:0018303	71.00	gold quality
jejunum	UBERON:0002115	70.60	gold quality
gluteal muscle	UBERON:0002000	67.93	silver quality
sperm	CL:0000019	67.86	gold quality
colonic epithelium	UBERON:0000397	67.84	gold quality
vermiform appendix	UBERON:0001154	67.44	gold quality
male germ cell	CL:0000015	67.01	gold quality
triceps brachii	UBERON:0001509	66.84	gold quality
large intestine	UBERON:0000059	66.61	gold quality
caecum	UBERON:0001153	66.42	gold quality
endothelial cell	CL:0000115	66.34	gold quality
epithelium of esophagus	UBERON:0001976	66.27	gold quality
heart right ventricle	UBERON:0002080	66.26	gold quality
myocardium	UBERON:0002349	66.01	gold quality
colon	UBERON:0001155	65.86	gold quality
oocyte	CL:0000023	65.45	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-GEOD-125970	yes	4417.72
E-MTAB-9906	yes	2752.70
E-ANND-3	yes	14.43
E-MTAB-8410	yes	10.75

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): EAF2, FOXO1, GATA4, HNF1A, HNF4A, IRF6, JUN, NR1H3, PIAS1, POU2F1, PPARG, RXRA, SMAD2, SMAD3, SMAD4, TFAP2A, TFAP2B

miRNA regulators (miRDB)

85 targeting FABP2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-3682-5P	99.93	67.97	1163
HSA-MIR-338-5P	99.92	72.34	2951
HSA-MIR-8063	99.91	69.76	3146
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-3529-3P	99.90	73.55	3045
HSA-MIR-374B-5P	99.90	69.98	2734
HSA-MIR-4302	99.89	67.94	1187
HSA-MIR-380-3P	99.89	70.18	1978
HSA-MIR-4495	99.82	72.08	3080
HSA-MIR-6875-3P	99.82	70.26	2983
HSA-MIR-4517	99.76	69.19	1867
HSA-MIR-7856-5P	99.75	69.99	2901
HSA-MIR-132-3P	99.73	70.56	1424
HSA-MIR-212-3P	99.73	70.65	1424

Literature-anchored findings (GeneRIF, showing 40)

• The A54T polymorphism at the intestinal fatty acid binding protein 2 is associated with insulin resistance in glucose tolerant Caucasians. (PMID:11299043)
• lack of association between the Ala54Thr polymorphism of FABP2 gene and obesity and obesity with dyslipidemia in Japanese schoolchildren (PMID:11866034)
• Unlike type 2 diabetes, type 1 does not interact with the codon 54 polymorphism of the fatty acid binding protein 2 gene. (PMID:12161503)
• genetic variants in the gene appear not to have a major role as modifier genes in familial combined hyperlipidemia (PMID:12370850)
• concluded that there is a unique distribution of the FABP2 Ala54Thr polymorphism in the Tongan population which is associated with decreased total and LDL cholesterol (PMID:12855223)
• besides I-FABP, also L-FABP is a useful plasma marker for the detection of intestinal injury, especially in patients undergoing intestinal surgery (PMID:14563446)
• fatty acid binding protein 2 polymorphism Ala54Thr is not associated with diabetic retinopathy (PMID:14605999)
• FABP2 polymorphism plays little if any role for lipid or glucose metabolism. (PMID:15177133)
• the effects of FABP2 allelic variations may play roles in cardiovascular pathogenesis in the presence of insulin resistance or hypertriglyceridemia (PMID:15547295)
• Association between the Ala(54)Thr variant in the FABP2 gene and levels of visceral (VAT) and sc (SAAT) abdominal fat in a group of 223 premenopausal African-American (n = 103) and Caucasian (n = 120) women. (PMID:15572430)
• This study evaluates in Asian-Indians the association between these polymorphisms with metabolic syndrome and dyslipidemia (PMID:15598690)
• Thr54 allele of FABP2 has associations with lower adjusted resting metabolic rate and early onset of obesity in Japanese obese women. (PMID:15620432)
• Evidence that FABP2 confers susceptibility to renal disease in type 2 diabetic patients is presented. (PMID:16249461)
• a blood marker of chemotherapy-induced enterocyte toxocity in rhabdomyosarcoma. (PMID:16679929)
• findings suggest that the functional Fatty acid-binding protein 2 (FABP2) promoter haplotype may contribute to type 2 diabetes in a sex-specific manner (PMID:16718625)
• concluded that the T54 allele of fatty acid binding protein 2(FABP2) A54T is associated both with higher body mass index and reduced risk of type 2 diabetes in women (PMID:16718632)
• FABP 2 may have a role in reducing delta 6 desaturase activity and plasma arachidonic acid in obese children (PMID:16908951)
• The odds ratio (adjusted for age and sex) for metabolic syndrome for the individuals carrying the Ala54Thr genotype was 1.240 whereas for those carrying the Thr54Thr genotype, it was 1.812 (PMID:16919542)
• Thr-54 polymorphism of the FABP2 gene is associated with a 2-3.5-fold increase in cardiovascular risk in dyslipidemic men with diabetes compared to their non-diabetic counterparts (PMID:16945373)
• It is unlikely that Ala54Thr polymorphism of the FABP2 gene plays a relevant role in obesity and insulin resistance in Chilean ethnic groups. (PMID:17211557)
• Association between the Ala54Thr polymorphism of FABP2 with diabetes, reveals a genetic dosage effect regarding its association with diabetes in Chilean elders. (PMID:17292994)
• 163G>A (Ala54Thr) polymorphism exerts an influence on effective dose of the valproic acid but not of topiramate. (PMID:17310796)
• Binding element at position -336/-324 essentially determines the transcriptional activity of promoter and may be important in control of hFABP2 expression by dietary lipids and differentiation. (PMID:17343826)
• There were not significant difference I-FABP expression between ductal infiltrating carcinoma and benign tissue in human breast cancer. (PMID:17428383)
• findings show a significant increase in postprandial triglyceride levels and a decrease in insulin sensitivity due to T54T only in the presence of the homozygous B genotype at the promoter polymorphism (PMID:17512303)
• no association between the Thr54 allele of FABP2 and any of the five selected markers of cardiovascular disease (PMID:17594477)
• Intestinal L-FABP expression was investigated by immuno-histochemistry, western blot, ELISA and Northern blot analysis (PMID:17605029)
• A54T polymorphism of the FABP2 gene is associated with cardiovascular disease risk in obese subjects. (PMID:17907115)
• We detected an interaction between the Ala54Thr polymorphism and the type of oil consumed that accounted for the variance in insulin resistance (PMID:17921407)
• the molecular basis for the variant specific transcriptional regulation of the diabetes type 2-associated FABP2 gene. (PMID:17960769)
• Analysis of the three groups (ALA54/THR54, THR54/THR54 and ALA54/ALA54) shows a higher levels of fat mass in Thr54/Thr54 group than Ala54/Ala54). CRP, IL-6, and lipoprotein-a were higher in mutant groupa (ALA54/THR54, THR54/THR54) than in ALA54/ALA54. (PMID:17992640)
• Men and women homozygous for FABP2 Thr54 presented a significant opposite profile for plasma oleic acid (18:1), triacylglycerol-rich lipoprotein (TRL) cholesterol, and TRL phospholipids. All Thr/Thr men presented higher 18:1 values than did women. (PMID:18065580)
• The elevated serum I-FABP concentration in patients with ulcerative colitis may indicate ileitis. (PMID:18201778)
• Polymorphism Ala54Thr of fatty acid-binding protein did not have an effect on weight loss or clinical outcomes after bariatric surgery. (PMID:18280114)
• Ala54 Thr polymorphism of the FABP2 gene is associated with insulin sensitivity in pubertal girls born small for gestational age (PMID:18422024)
• our data suggest a major role of HNF-1alpha in control of FABP2 expression in intestine via a functional HNF-1alpha recognition element within FABP2 promoter region -185 to -165. (PMID:18440731)
• Data show that genotypes for the 2445G–>A (Ala54Thr) polymorphism of FABP2 was associated (P<0.05) with the prevalence of atherothrombotic cerebral infarction. (PMID:18506375)
• A functional role of PPARgamma/RXRalpha and Oct-1 in the regulation of the FABP2 gene. (PMID:18634911)
• Data show that similar weight loss is associated with different changes, depending on the fatty acid-binding protein 2 genotype with both diets. (PMID:18701184)
• investigation of a Canadian multiethnic population demonstrated that FABP2 T54 carriers had significantly higher triglyceride concentrations than noncarriers; no evidence that the T54 variant was associated with insulin resistance or dietary interactions (PMID:18824579)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	fabp2	ENSDARG00000006427
mus_musculus	Fabp2	ENSMUSG00000023057
rattus_norvegicus	Fabp2	ENSRNOG00000024947
caenorhabditis_elegans		WBGENE00002259
caenorhabditis_elegans		WBGENE00002260

Paralogs (15): RBP2 (ENSG00000114113), RBP1 (ENSG00000114115), FABP3 (ENSG00000121769), RBP5 (ENSG00000139194), CRABP2 (ENSG00000143320), PMP2 (ENSG00000147588), RBP7 (ENSG00000162444), FABP1 (ENSG00000163586), FABP7 (ENSG00000164434), FABP5 (ENSG00000164687), CRABP1 (ENSG00000166426), FABP6 (ENSG00000170231), FABP4 (ENSG00000170323), FABP12 (ENSG00000197416), FABP9 (ENSG00000205186)

Protein

Protein identifiers

Fatty acid-binding protein, intestinal — P12104 (reviewed: P12104)

Alternative names: Fatty acid-binding protein 2, Intestinal-type fatty acid-binding protein

All UniProt accessions (1): P12104

UniProt curated annotations — full annotation on UniProt →

Function. FABPs are thought to play a role in the intracellular transport of long-chain fatty acids and their acyl-CoA esters. FABP2 is probably involved in triglyceride-rich lipoprotein synthesis. Binds saturated long-chain fatty acids with a high affinity, but binds with a lower affinity to unsaturated long-chain fatty acids. FABP2 may also help maintain energy homeostasis by functioning as a lipid sensor.

Subcellular location. Cytoplasm.

Tissue specificity. Expressed in the small intestine and at much lower levels in the large intestine. Highest expression levels in the jejunum.

Domain organisation. Forms a beta-barrel structure that accommodates the hydrophobic ligand in its interior.

Induction. By EGF.

Similarity. Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family.

RefSeq proteins (1): NP_000125* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000463	Fatty_acid-bd	Domain
IPR000566	Lipocln_cytosolic_FA-bd_dom	Domain
IPR012674	Calycin	Homologous_superfamily
IPR031259	ILBP	Family
IPR031272	FABP2	Family

Pfam: PF00061

UniProt features (30 total): strand 11, mutagenesis site 7, binding site 4, helix 2, turn 2, initiator methionine 1, chain 1, modified residue 1, sequence variant 1

Structure

Experimental structures (PDB)

7 structures.

PDB	Method	Resolution (Å)
3AKM	X-RAY DIFFRACTION	1.9
1KZW	SOLUTION NMR
1KZX	SOLUTION NMR
2MJI	SOLUTION NMR
2MO5	SOLUTION NMR
3IFB	SOLUTION NMR
6L7K	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P12104-F1	91.26	0.74

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (4): 83; 83; 107; 107

Post-translational modifications (1): 2

Mutagenesis-validated functional residues (7):

Position	Phenotype
65	reduced stability.
67	localized reduction in stability.
90	reduced stability.
123	reduced stability.
39	reduced stability.
64	localized reduction in stability.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-163560	Triglyceride catabolism

MSigDB gene sets: 158 (showing top): REACTOME_TRIGLYCERIDE_CATABOLISM, GOBP_DIGESTION, MODULE_92, MODULE_255, MODULE_317, GOBP_RESPONSE_TO_FOOD, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_TRANSPORT, COUP_01, EVI1_05, GOBP_GLYCEROLIPID_METABOLIC_PROCESS, GATA6_01, KEGG_PPAR_SIGNALING_PATHWAY, GOBP_ORGANIC_ANION_TRANSPORT, HNF4_01

GO Biological Process (5): fatty acid metabolic process (GO:0006631), fatty acid transport (GO:0015908), intestinal lipid absorption (GO:0098856), long-chain fatty acid transport (GO:0015909), intestinal absorption (GO:0050892)

GO Molecular Function (5): long-chain fatty acid transmembrane transporter activity (GO:0005324), fatty acid binding (GO:0005504), long-chain fatty acid binding (GO:0036041), protein binding (GO:0005515), lipid binding (GO:0008289)

GO Cellular Component (5): nucleus (GO:0005634), cytosol (GO:0005829), microvillus (GO:0005902), apical cortex (GO:0045179), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Triglyceride metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	2
cellular anatomical structure	2
lipid metabolic process	1
monocarboxylic acid metabolic process	1
lipid transport	1
monocarboxylic acid transport	1
intestinal absorption	1
fatty acid transport	1
digestive system process	1
fatty acid transmembrane transporter activity	1
long-chain fatty acid transport	1
lipid binding	1
monocarboxylic acid binding	1
fatty acid binding	1
intracellular membrane-bounded organelle	1
cytoplasm	1
actin filament bundle	1
actin-based cell projection	1
cell cortex region	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1194 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FABP2	GOT2	P00505	955
FABP2	FABP1	P07148	950
FABP2	FABP6	P51161	809
FABP2	MANBA	O00462	761
FABP2	INSIG2	Q9Y5U4	725
FABP2	LBP	P18428	671
FABP2	GATA5	Q9BWX5	671
FABP2	MLXIPL	Q9NP71	649
FABP2	PPARG	P37231	626
FABP2	GATA6	P78327	625
FABP2	APOB	P04114	619
FABP2	HP	P00737	608
FABP2	APOA1	P02647	607
FABP2	INSIG1	O15503	598
FABP2	DGAT1	O75907	587

IntAct

9 interactions, top by confidence:

A	B	Type	Score
FABP2	AGR2	psi-mi:“MI:0915”(physical association)	0.670
AGR2	FABP2	psi-mi:“MI:0915”(physical association)	0.670
TERF2IP	FABP2	psi-mi:“MI:0915”(physical association)	0.510
ALDH1B1	FABP2	psi-mi:“MI:0915”(physical association)	0.370
CFTR	FABP2	psi-mi:“MI:0915”(physical association)	0.370
TERF2IP	FABP2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (5): AGR2 (Two-hybrid), AGR2 (Two-hybrid), FABP2 (PCA), FABP2 (Two-hybrid), FABP2 (Two-hybrid)

ESM2 similar proteins: A6NFH5, B7SUM8, O01812, O01814, O02323, O02324, O02772, O08716, O15540, O45035, P02689, P02690, P02691, P02693, P05413, P0C6G6, P12104, P24526, P29498, P41496, P41509, P48035, P51880, P55050, P55051, P55054, P80049, P80856, P81653, P82289, P83409, Q02970, Q0Z7S8, Q17284, Q1AMT3, Q45KW7, Q56JX9, Q7M4G0, Q7M4G1, Q865F7

Diamond homologs: A0A0K0MJ13, A0A0K0MJN3, A6NFH5, A6YLM6, A8MUU1, B7SUM8, C4N147, O01812, O01814, O02323, O02324, O02772, O08716, O13008, O15540, O42386, O45035, O76821, O97788, P02689, P02690, P02691, P02693, P02694, P02696, P04117, P05413, P06768, P07483, P09455, P0C241, P0C6G6, P0DM59, P10790, P11404, P12104, P15090, P22935, P24526, P29373

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
FABP2	“up-regulates quantity”	“Fatty acid”	relocalization

Disease & clinical

Clinical variants and AI predictions

ClinVar

45 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	17
Likely benign	3
Benign	24

Top pathogenic / likely-pathogenic (0)

SpliceAI

510 predictions. Top by Δscore:

Variant	Effect	Δscore
4:119319641:CCC:C	acceptor_gain	1.0000
4:119319642:CC:C	acceptor_gain	1.0000
4:119319642:CCC:C	acceptor_gain	1.0000
4:119319643:CC:C	acceptor_gain	1.0000
4:119319644:C:CC	acceptor_gain	1.0000
4:119320664:TCTTA:T	donor_loss	1.0000
4:119320665:CTTA:C	donor_loss	1.0000
4:119320666:TTA:T	donor_loss	1.0000
4:119320667:TACC:T	donor_loss	1.0000
4:119320668:A:AC	donor_gain	1.0000
4:119320668:AC:A	donor_gain	1.0000
4:119320668:ACC:A	donor_gain	1.0000
4:119320668:ACCCT:A	donor_loss	1.0000
4:119320669:C:A	donor_gain	1.0000
4:119320669:C:CG	donor_gain	1.0000
4:119320669:CCC:C	donor_gain	1.0000
4:119320669:CCCT:C	donor_gain	1.0000
4:119320669:CCCTG:C	donor_gain	1.0000
4:119320838:AACAC:A	acceptor_gain	1.0000
4:119320839:ACAC:A	acceptor_gain	1.0000
4:119320840:CAC:C	acceptor_gain	1.0000
4:119320840:CACC:C	acceptor_gain	1.0000
4:119320841:AC:A	acceptor_gain	1.0000
4:119320842:CCTG:C	acceptor_gain	1.0000
4:119320843:C:CC	acceptor_gain	1.0000
4:119320844:T:A	acceptor_loss	1.0000
4:119320845:G:C	acceptor_gain	1.0000
4:119320845:G:GC	acceptor_gain	1.0000
4:119320852:G:C	acceptor_gain	1.0000
4:119320852:G:GC	acceptor_gain	1.0000

AlphaMissense

879 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:119319564:C:G	R107P	0.979
4:119319602:G:C	F94L	0.967
4:119319602:G:T	F94L	0.967
4:119319604:A:G	F94L	0.967
4:119320721:A:C	F63L	0.966
4:119320721:A:T	F63L	0.966
4:119320723:A:G	F63L	0.966
4:119320748:G:C	S54R	0.964
4:119320748:G:T	S54R	0.964
4:119320750:T:G	S54R	0.964
4:119319053:A:C	F129L	0.963
4:119319053:A:T	F129L	0.963
4:119319055:A:G	F129L	0.963
4:119319067:C:G	A125P	0.960
4:119319537:T:G	Q116P	0.959
4:119319637:A:G	W83R	0.958
4:119319637:A:T	W83R	0.958
4:119319059:C:A	R127S	0.957
4:119319059:C:G	R127S	0.957
4:119320794:A:G	L39P	0.955
4:119322084:A:G	W7R	0.952
4:119322084:A:T	W7R	0.952
4:119319615:A:G	L90P	0.951
4:119319643:C:A	G81W	0.948
4:119320761:A:T	V50D	0.946
4:119322071:C:G	R11P	0.946
4:119320740:C:G	R57P	0.942
4:119319543:A:G	L114P	0.939
4:119319643:C:G	G81R	0.938
4:119319643:C:T	G81R	0.938

dbSNP variants (sampled 300 via entrez): RS1000171132 (4:119322499 C>A), RS10003567 (4:119320519 C>A,T), RS10006259 (4:119320990 C>A,T), RS10006877 (4:119321638 C>T), RS1001148356 (4:119321546 C>A), RS10013042 (4:119323327 C>T), RS1001663459 (4:119317868 C>T), RS1001914831 (4:119318224 T>TA), RS1001970193 (4:119316854 A>G), RS1002150816 (4:119323822 G>A), RS1003338048 (4:119320180 A>G), RS10034579 (4:119322874 A>C,G,T), RS10034661 (4:119322930 A>C,G,T), RS1004279867 (4:119319397 A>C,G), RS1004810105 (4:119321427 A>C)

Disease associations

OMIM: gene MIM:134640 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST010002_14	Refractive error	5.000000e-18

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4879 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

5 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 307,934 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL103	PROGESTERONE	4	162,141
CHEMBL509	MECLOFENAMIC ACID	4	45,809
CHEMBL563	FLURBIPROFEN	4	71,809
CHEMBL981	FENOFIBRIC ACID	4	6,353
CHEMBL264374	BEZAFIBRATE	3	21,822

PharmGKB: 1 entry (VIP=true, CPIC=false)

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs1799883	FABP2		0.00	0

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: other protein — Fatty acid-binding proteins

Binding affinities (BindingDB)

2 measured of 13 human assays (14 total across all organisms); most potent 2 below. Values come from heterogeneous assays and are not directly comparable.

Ligand	Measure	Value	Patent
2-{[3-(trifluoromethyl)phenyl]amino}benzoic acid	IC50	980 nM	US-9271961: Bifunctional AKR1C3 inhibitors/androgen receptor modulators and methods of use thereof
Tolfenamic acid	IC50	57900 nM

ChEMBL bioactivities

5 potent at pChembl≥5 of 9 total, top 5 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
6.00	Ki	1000	nM	FENOFIBRIC ACID
5.77	IC50	1700	nM	PALMITIC ACID
5.41	IC50	3900	nM	CHEMBL427320
5.18	Ki	6570	nM	CHEMBL1077990
5.05	Ki	8900	nM	MECLOFENAMIC ACID

PubChem BioAssay actives

14 with measured affinity, of 46 total; 12 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
(Z)-octadec-9-enoate	1801103: Fluorophore Displacement Assay from Article 10.1021/cb5005178: “Characterization of two distinct modes of drug binding to human intestinal fatty acid binding protein.”	ki	0.0100	uM
11-[[5-(dimethylamino)naphthalen-1-yl]sulfonylamino]undecanoic acid	1801103: Fluorophore Displacement Assay from Article 10.1021/cb5005178: “Characterization of two distinct modes of drug binding to human intestinal fatty acid binding protein.”	ki	0.3000	uM
Fenofibric Acid	407368: Displacement of 1-anilinonaphthalene-8-sulphonic acid from I-FABP	ki	1.0000	uM
2-[4-[2-[4-cyclohexylbutyl(cyclohexylcarbamoyl)amino]ethyl]phenyl]sulfanyl-2-methylpropanoic acid	1801104: ITC Titration from Article 10.1021/cb5005178: “Characterization of two distinct modes of drug binding to human intestinal fatty acid binding protein.”	kd	1.3000	uM
Palmitic Acid	241835: In vitro inhibitory concentration against intestinal fatty acid binding protein(I-FABP)	ic50	1.7000	uM
3-(5-bromoindol-1-yl)sulfonylthiophene-2-carboxylic acid	241835: In vitro inhibitory concentration against intestinal fatty acid binding protein(I-FABP)	ic50	3.9000	uM
Fenofibrate	1801104: ITC Titration from Article 10.1021/cb5005178: “Characterization of two distinct modes of drug binding to human intestinal fatty acid binding protein.”	kd	4.4100	uM
2-(3-chloro-2-methylanilino)benzoic acid	1801103: Fluorophore Displacement Assay from Article 10.1021/cb5005178: “Characterization of two distinct modes of drug binding to human intestinal fatty acid binding protein.”	ki	6.1000	uM
(E)-4-[(2-methoxycarbonyl-5-thiophen-2-ylthiophen-3-yl)amino]-4-oxobut-2-enoic acid	468321: Displacement of radiolabeled 1-anilinonaphthalene 8-sulfonic acid from IFABP expressed in Escherichia coli BL21 (DE3) by fluorescence spectrophotometry	ki	6.5700	uM
2-[4-[3-(4-acetyl-3-hydroxy-2-propylphenoxy)propoxy]phenoxy]acetic acid	1801104: ITC Titration from Article 10.1021/cb5005178: “Characterization of two distinct modes of drug binding to human intestinal fatty acid binding protein.”	kd	7.2000	uM
Meclofenamic Acid	407368: Displacement of 1-anilinonaphthalene-8-sulphonic acid from I-FABP	ki	8.9000	uM
Ketorolac	1801103: Fluorophore Displacement Assay from Article 10.1021/cb5005178: “Characterization of two distinct modes of drug binding to human intestinal fatty acid binding protein.”	ki	9.4000	uM

CTD chemical–gene interactions

13 total (human), top 13 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects cotreatment, decreases expression, increases methylation	2
Valproic Acid	affects response to substance, decreases methylation	2
aminomethylphosphonic acid (AMPA)	decreases expression	1
benzo(b)fluoranthene	decreases expression, affects cotreatment	1
benz(a)anthracene	affects cotreatment, decreases expression	1
chrysene	affects cotreatment, decreases expression	1
2-palmitoylglycerol	increases expression	1
(+)-JQ1 compound	decreases expression	1
Rifaximin	increases expression, increases response to substance	1
Glyphosate	decreases expression	1
1-Methyl-4-phenylpyridinium	increases expression	1
Aflatoxin M1	decreases expression	1
Copper Sulfate	decreases expression	1

ChEMBL screening assays

7 unique, capped per target: 7 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1102422	Binding	Displacement of radiolabeled 1-anilinonaphthalene 8-sulfonic acid from IFABP expressed in Escherichia coli BL21 (DE3) by fluorescence spectrophotometry	Identification and characterization of a small molecule inhibitor of Fatty Acid binding proteins. — J Med Chem

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.