FABP7
gene geneOn this page
Also known as B-FABPBLBP
Summary
FABP7 (fatty acid binding protein 7, HGNC:3562) is a protein-coding gene on chromosome 6q22.31, encoding Fatty acid-binding protein, brain (O15540). B-FABP could be involved in the transport of a so far unknown hydrophobic ligand with potential morphogenic activity during CNS development.
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.
Source: NCBI Gene 2173 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 19 total
- Druggable target: yes
- MANE Select transcript:
NM_001446
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:3562 |
| Approved symbol | FABP7 |
| Name | fatty acid binding protein 7 |
| Location | 6q22.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | B-FABP, BLBP |
| Ensembl gene | ENSG00000164434 |
| Ensembl biotype | protein_coding |
| OMIM | 602965 |
| Entrez | 2173 |
Gene structure
Transcript identifiers
Ensembl transcripts: 2 — 2 protein_coding
ENST00000356535, ENST00000368444
RefSeq mRNA: 3 — MANE Select: NM_001446
NM_001319039, NM_001319041, NM_001446
CCDS: CCDS5127, CCDS83121
Canonical transcript exons
ENST00000368444 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001084348 | 122780291 | 122780463 |
| ENSE00001357868 | 122781093 | 122781194 |
| ENSE00001447146 | 122783717 | 122784074 |
| ENSE00001447148 | 122779716 | 122779867 |
Expression profiles
Bgee: expression breadth ubiquitous, 211 present calls, max score 99.97.
FANTOM5 (CAGE): breadth broad, TPM avg 28.6750 / max 4689.1821, expressed in 344 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 69537 | 24.8656 | 322 |
| 69535 | 2.5862 | 289 |
| 69536 | 1.0876 | 198 |
| 69538 | 0.1355 | 48 |
Top tissues by expression
285 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ventricular zone | UBERON:0003053 | 99.97 | gold quality |
| ganglionic eminence | UBERON:0004023 | 99.87 | gold quality |
| cortical plate | UBERON:0005343 | 99.58 | gold quality |
| cerebellar vermis | UBERON:0004720 | 99.21 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 99.20 | gold quality |
| upper leg skin | UBERON:0004262 | 99.16 | gold quality |
| cerebellar cortex | UBERON:0002129 | 99.02 | gold quality |
| cerebellum | UBERON:0002037 | 99.01 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 99.01 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 98.87 | gold quality |
| paraflocculus | UBERON:0005351 | 98.81 | gold quality |
| amygdala | UBERON:0001876 | 98.16 | gold quality |
| mammalian vulva | UBERON:0000997 | 97.67 | gold quality |
| temporal lobe | UBERON:0001871 | 97.57 | gold quality |
| diaphragm | UBERON:0001103 | 97.47 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 97.40 | gold quality |
| cingulate cortex | UBERON:0003027 | 97.20 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 97.19 | gold quality |
| entorhinal cortex | UBERON:0002728 | 97.06 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 96.91 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 96.73 | gold quality |
| right frontal lobe | UBERON:0002810 | 96.62 | gold quality |
| Ammon’s horn | UBERON:0001954 | 96.41 | gold quality |
| cerebral cortex | UBERON:0000956 | 96.22 | gold quality |
| pons | UBERON:0000988 | 96.14 | gold quality |
| frontal pole | UBERON:0002795 | 95.93 | gold quality |
| hypothalamus | UBERON:0001898 | 95.86 | gold quality |
| neocortex | UBERON:0001950 | 95.81 | gold quality |
| frontal cortex | UBERON:0001870 | 95.64 | gold quality |
| nucleus accumbens | UBERON:0001882 | 95.49 | gold quality |
Single-cell (SCXA)
Detected in 13 experiment(s), a significant marker in 12.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-10485 | yes | 5700.30 |
| E-HCAD-5 | yes | 4733.43 |
| E-MTAB-9435 | yes | 4461.20 |
| E-HCAD-56 | yes | 4007.02 |
| E-MTAB-8894 | yes | 3696.28 |
| E-MTAB-11121 | yes | 3619.36 |
| E-GEOD-93593 | yes | 2471.02 |
| E-MTAB-7316 | yes | 2078.69 |
| E-GEOD-75140 | yes | 1183.31 |
| E-GEOD-75688 | yes | 715.00 |
| E-GEOD-137537 | yes | 41.29 |
| E-GEOD-84465 | yes | 23.53 |
| E-ANND-3 | no | 2.26 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): KLF7, NFIB, NFIC, NOTCH1, NR2E1, NR2F1, PAX3, PAX6, PKNOX1, POU3F1, POU3F2, RBPJ, SOX2
miRNA regulators (miRDB)
11 targeting FABP7, 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-3671 | 99.90 | 73.04 | 3897 |
| HSA-MIR-3942-3P | 99.57 | 69.03 | 2854 |
| HSA-MIR-3915 | 99.45 | 68.49 | 1905 |
| HSA-MIR-3614-5P | 99.30 | 65.25 | 837 |
| HSA-MIR-2054 | 99.20 | 68.89 | 1699 |
| HSA-MIR-4329 | 97.68 | 66.26 | 1003 |
| HSA-MIR-6500-3P | 97.42 | 67.20 | 867 |
Literature-anchored findings (GeneRIF, showing 40)
- overall structure exhibits the typical backbone conformation described for other members of the FABP family, consisting of antiparallel beta-strands that form two almost orthogonal beta-sheets, a helix-turn-helix motif and a short N-terminal helical loop (PMID:12479569)
- BLBP, stimulated by Ras-independent pathways, regulates Schwann cell-axon interactions in normal peripheral nerve and peripheral nerve tumors. (PMID:12612091)
- Overexpression of FABP7 in Down syndrome fetal brains. (PMID:12771203)
- Functional analysis in mice. (PMID:12975368)
- data indicate that MRG is a mediator of the differentiating effects of pregnancy on breast epithelium (PMID:12975368)
- Increases tumor cell motility in vitro and over-expression is associated with poor prognosis in glioblastoma patients (PMID:15827123)
- A possible mechanism for the association of nuclear FABP7 & poor prognosis of glioblastoma multiforme is that nuclear FABP7 may be induced by EGFR activation to promote migration of GBM tumor cells. (PMID:16623952)
- relation between FABP7, astrocytic features, invasion and poor prognosis and suggests that EGFR amplification is associated with nuclear translocation of FABP7. (PMID:17415524)
- There were not significant difference in B-FABP expression between ductal infiltrating carcinoma and benign tissue in human breast cancer. (PMID:17428383)
- Upregulation of FABP7 in renal cell carcinoma was confirmed by quantitative RT-PCR. (PMID:17646957)
- B-FABP expression in malignant glioma cells is accompanied by the appearance of radial glial-like properties, as well as reduced transformation. B-FABP depletion results in decreased migration, reduction in cell processes, & a more transformed phenotype. (PMID:17898869)
- Decreased expression of FABP-7 in fetal cystic adenomatoid malformation (CCAM) suggests FABP-7 may have a role in pulmonary development and in the pathogenesis of CCAM. (PMID:18391847)
- Both in vitro Reelin treatment and overexpression of Notch-1 intracellular domain induced BLBP expression and a radial glial phenotype in an immortalized human neural progenitor cell line, isolated from the cortex of 14 weeks old fetus (PMID:18593473)
- High expression of FABP7 is associated with melanoma (PMID:18826602)
- NFI family of transcription factors plays a key role in the regulation of both the B-FABP and GFAP genes in malignant glioma cells. (PMID:19540848)
- brain-expressed fatty-acid binding protein (FABP) genes 3, 5 and 7 may have roles in schizophrenia and bipolar disorder (PMID:19554614)
- FABP7 may function as a tumor progression gene in melanoma (PMID:19587692)
- We have identified a novel subgroup of basal phenotype (BP) class of breast cancers showing FABP7 expression that have significantly better clinical outcome. (PMID:19590950)
- this study is the first to demonstrate overexpression of FABP-7 in triple-negative breast cancers (PMID:19608352)
- While B-FABP is over expressed in renal cell carcinoma in comparison to normal renal tissues L-FABP appears to be reduced in tumor tissue (PMID:19622156)
- Studies indicate that three of the ten mammalian FABPs identified to date (FABP3, FABP5, FABP7) are expressed in the brain. (PMID:20563994)
- High FABP7 is associated with malignant glioma. (PMID:20834042)
- In contrast to heart-type FABP, serum levels of brain-type FABP are elevated in a significant proportion of patients with various neurodegenerative diseases. (PMID:21143341)
- BFABP is involved in cell proliferation and migration of human renal carcinoma cells. (PMID:21399875)
- expression of BLBP in activated astrocytes negatively correlates with disease duration and in parallel with remyelination failure (PMID:21620951)
- Data show that three putative FABP7 promoter regions drive reporter gene expression in renal cell carcinoma cell lines, but not in the HEK293 cell line. (PMID:21771320)
- A fatty acid-binding protein 7/RXRbeta pathway enhances survival and proliferation in triple-negative breast cancer. (PMID:22322885)
- Considerable heterogeneity in expression patterns of FABP7 within breast cancer elates to differences in biological behaviour especially in basal-like breast cancer. (PMID:22562177)
- These data provide the first evidence of direct transactivation of the FABP7 proximal promoter by PAX6 and suggest a synergistic mechanism for PAX6 and other co-factor(s) in regulating FABP7 expression in malignant glioma. (PMID:22583899)
- identified its binding target by proteomic analysis as fatty acid binding protein 7 (FABP7), also known as brain lipid binding protein) which is highly expressed in neural stem cells and localized in the cytoplasm (PMID:22689954)
- Report feasibility of detecting B-FABP as biomarker for ischemic brain damage during extrcorporeal circulation in coronary artery bypass grafting patients. (PMID:23020859)
- FABP7 is almost exclusively expressed in neurospheres and not in the adherent cells, derived from the same glioblastoma tumor. (PMID:23284888)
- FABP7 and FABP5 are differentially expressed in oligodendrocyte lineage cells and regulate their proliferation and/or differentiation. (PMID:24114376)
- Our data introduces FABP7 as a marker for glioma stem cells and further highlights its possible significance for glioma diagnosis and treatment. (PMID:24274717)
- These results suggest an important role of Rev-erbalpha and Fabp7 in adult neurogenesis. (PMID:24932636)
- The mRNA/protein expressions of FABP7 was lower in the stenotic colon segment tissue than in the normal colon segment tissue of Hirschsrung disease patients. (PMID:24966941)
- The frameshift and missense mutations in FABP3, FABP5, and FABP7 genes have been identified in schizophrenia and autism spectrum disorder in humans and in mouse behavioral studies. (PMID:25027319)
- identified 98 transposable element-FABP7 gene chimeric transcripts that were exclusively expressed in primary diffuse large B-cell lymphoma (DLBCL) cases and confirmed several in DLBCL-derived cell lines (PMID:25114248)
- FABP7 is overexpressed in clear cell renal cell carcinoma and promotes cell growth by the activation of ERK and Stat3 signaling pathways (PMID:25192834)
- FABP7 and HMGCS2 may have roles in apocrine differentiation categorizing apocrine carcinoma of the breast (PMID:25389781)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | fabp7a | ENSDARG00000007697 |
| danio_rerio | fabp7b | ENSDARG00000034650 |
| mus_musculus | Fabp7 | ENSMUSG00000019874 |
| rattus_norvegicus | Fabp7 | ENSRNOG00000000814 |
| caenorhabditis_elegans | WBGENE00002259 | |
| caenorhabditis_elegans | WBGENE00002260 |
Paralogs (15): RBP2 (ENSG00000114113), RBP1 (ENSG00000114115), FABP3 (ENSG00000121769), RBP5 (ENSG00000139194), CRABP2 (ENSG00000143320), FABP2 (ENSG00000145384), PMP2 (ENSG00000147588), RBP7 (ENSG00000162444), FABP1 (ENSG00000163586), FABP5 (ENSG00000164687), CRABP1 (ENSG00000166426), FABP6 (ENSG00000170231), FABP4 (ENSG00000170323), FABP12 (ENSG00000197416), FABP9 (ENSG00000205186)
Protein
Protein identifiers
Fatty acid-binding protein, brain — O15540 (reviewed: O15540)
Alternative names: Brain lipid-binding protein, Brain-type fatty acid-binding protein, Fatty acid-binding protein 7, Mammary-derived growth inhibitor related
All UniProt accessions (1): O15540
UniProt curated annotations — full annotation on UniProt →
Function. B-FABP could be involved in the transport of a so far unknown hydrophobic ligand with potential morphogenic activity during CNS development. It is required for the establishment of the radial glial fiber system in developing brain, a system that is necessary for the migration of immature neurons to establish cortical layers.
Subcellular location. Cytoplasm.
Tissue specificity. Expressed in brain and other neural tissues.
Domain organisation. Forms a beta-barrel structure that accommodates the hydrophobic ligand in its interior.
Similarity. Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O15540-1 | 1 | yes |
| O15540-2 | 2 |
RefSeq proteins (3): NP_001305968, NP_001305970, NP_001437* (*=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 |
Pfam: PF00061
UniProt features (22 total): strand 10, helix 3, sequence conflict 2, initiator methionine 1, chain 1, turn 1, binding site 1, modified residue 1, splice variant 1, sequence variant 1
Structure
Experimental structures (PDB)
9 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6L9O | X-RAY DIFFRACTION | 1.42 |
| 7E25 | X-RAY DIFFRACTION | 1.6 |
| 5URA | X-RAY DIFFRACTION | 1.85 |
| 9NIU | X-RAY DIFFRACTION | 1.9 |
| 1FDQ | X-RAY DIFFRACTION | 2.1 |
| 8IVF | X-RAY DIFFRACTION | 2.6 |
| 8IVL | X-RAY DIFFRACTION | 2.7 |
| 1FE3 | X-RAY DIFFRACTION | 2.8 |
| 1JJX | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O15540-F1 | 96.41 | 0.97 |
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 (1): 127–129
Post-translational modifications (1): 2
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-163560 | Triglyceride catabolism |
| R-HSA-9013508 | NOTCH3 Intracellular Domain Regulates Transcription |
MSigDB gene sets: 175 (showing top):
REACTOME_TRIGLYCERIDE_CATABOLISM, REACTOME_SIGNALING_BY_NOTCH, LEE_NEURAL_CREST_STEM_CELL_DN, SHEPARD_BMYB_MORPHOLINO_DN, GOBP_ORGANIC_ACID_TRANSPORT, MODULE_66, MARTORIATI_MDM4_TARGETS_NEUROEPITHELIUM_DN, MODULE_205, FOSTER_TOLERANT_MACROPHAGE_DN, KEGG_PPAR_SIGNALING_PATHWAY, GOBP_ORGANIC_ANION_TRANSPORT, SANSOM_APC_TARGETS_DN, GOBP_MONOCARBOXYLIC_ACID_TRANSPORT, KIM_GASTRIC_CANCER_CHEMOSENSITIVITY, VANTVEER_BREAST_CANCER_ESR1_DN
GO Biological Process (4): nervous system development (GO:0007399), negative regulation of cell population proliferation (GO:0008285), fatty acid transport (GO:0015908), epithelial cell proliferation (GO:0050673)
GO Molecular Function (3): fatty acid binding (GO:0005504), lipid binding (GO:0008289), protein binding (GO:0005515)
GO Cellular Component (3): nucleus (GO:0005634), cytosol (GO:0005829), cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Triglyceride metabolism | 1 |
| Signaling by NOTCH3 | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cell population proliferation | 2 |
| binding | 2 |
| cellular anatomical structure | 2 |
| system development | 1 |
| regulation of cell population proliferation | 1 |
| negative regulation of cellular process | 1 |
| lipid transport | 1 |
| monocarboxylic acid transport | 1 |
| lipid binding | 1 |
| monocarboxylic acid binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| cytoplasm | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
1892 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| FABP7 | FAAH | O00519 | 839 |
| FABP7 | SLC1A3 | P43003 | 715 |
| FABP7 | NES | P48681 | 715 |
| FABP7 | GFAP | P14136 | 697 |
| FABP7 | HES5 | Q5TA89 | 680 |
| FABP7 | NEUROG2 | Q9H2A3 | 667 |
| FABP7 | GOT2 | P00505 | 666 |
| FABP7 | PAX6 | P26367 | 659 |
| FABP7 | S100B | P04271 | 657 |
| FABP7 | PROM1 | O43490 | 638 |
| FABP7 | ELAVL3 | Q14576 | 630 |
| FABP7 | OLIG2 | Q13516 | 613 |
| FABP7 | SOX2 | P48431 | 604 |
| FABP7 | RBFOX3 | A6NFN3 | 599 |
| FABP7 | DCX | O43602 | 585 |
IntAct
37 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| FABP7 | DMWD | psi-mi:“MI:0915”(physical association) | 0.560 |
| FABP7 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| GPR37 | FABP7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GRN | FABP7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FABP7 | GRN | psi-mi:“MI:0915”(physical association) | 0.560 |
| FABP7 | PMP22 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FABP7 | WFS1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FABP7 | KIF1B | psi-mi:“MI:0915”(physical association) | 0.560 |
| FABP7 | RNF11 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FABP7 | SPRED1 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (17): AKR1B1 (Co-fractionation), FABP7 (Co-fractionation), FABP7 (Co-fractionation), FABP7 (Co-fractionation), FABP7 (Co-fractionation), FABP7 (Co-fractionation), FABP7 (Co-fractionation), FABP7 (Co-fractionation), PPIL3 (Co-fractionation), FABP7 (Two-hybrid), FABP7 (Affinity Capture-MS), FABP7 (Affinity Capture-MS), FABP7 (Affinity Capture-MS), FABP7 (Affinity Capture-MS), FABP7 (Affinity Capture-MS)
ESM2 similar proteins: A0A0K0MJ13, A0A0K0MJN3, A6YLM6, C4N147, O01812, O01814, O02772, O08716, O13008, O15540, O45035, O97788, P02689, P02690, P02691, P04117, P05413, P06768, P07483, P0C6G6, P10790, P11404, P15090, P24526, P29498, P41496, P41509, P48035, P50120, P50121, P51880, P55051, P55052, P55053, P70623, P80049, P86412, Q01469, Q02970, Q05423
Diamond homologs: A0A0K0MJ13, A0A0K0MJN3, A6NFH5, A6YLM6, A8MUU1, B7SUM8, C4N147, O01812, O01814, O02323, O02324, O02772, O08716, O13008, O15540, O42386, O45035, O76821, O97788, P02689, P02690, P02691, P02694, P02696, P04117, P05413, P06768, P07148, P07483, P09455, P0C6G6, P10790, P11404, P12710, P15090, P22935, P24526, P29373, P29498, P29762
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| NOTCH1 | “up-regulates quantity by expression” | FABP7 | “transcriptional regulation” |
| FABP7 | “up-regulates quantity” | “Fatty acid” | relocalization |
Disease & clinical
Clinical variants and AI predictions
ClinVar
19 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 16 |
| Likely benign | 0 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
483 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:122780459:GTAAG:G | donor_gain | 1.0000 |
| 6:122780463:GGTGA:G | donor_loss | 1.0000 |
| 6:122780464:G:C | donor_loss | 1.0000 |
| 6:122781092:GTCT:G | acceptor_gain | 1.0000 |
| 6:122780464:G:GG | donor_gain | 0.9900 |
| 6:122781074:A:AG | acceptor_gain | 0.9900 |
| 6:122781074:ATTTT:A | acceptor_gain | 0.9900 |
| 6:122781075:T:G | acceptor_gain | 0.9900 |
| 6:122781081:T:A | acceptor_gain | 0.9900 |
| 6:122781084:T:TA | acceptor_gain | 0.9900 |
| 6:122781091:A:AG | acceptor_gain | 0.9900 |
| 6:122781092:G:GG | acceptor_gain | 0.9900 |
| 6:122781191:TATGG:T | donor_loss | 0.9900 |
| 6:122781192:ATGG:A | donor_loss | 0.9900 |
| 6:122781193:TGGTA:T | donor_loss | 0.9900 |
| 6:122781194:GGT:G | donor_loss | 0.9900 |
| 6:122781195:G:T | donor_loss | 0.9900 |
| 6:122781196:T:A | donor_loss | 0.9900 |
| 6:122781197:AA:A | donor_loss | 0.9900 |
| 6:122781078:T:TA | acceptor_gain | 0.9800 |
| 6:122781091:AGTCT:A | acceptor_gain | 0.9800 |
| 6:122781092:GT:G | acceptor_gain | 0.9800 |
| 6:122781092:GTCTG:G | acceptor_gain | 0.9800 |
| 6:122781198:AGT:A | donor_loss | 0.9800 |
| 6:122783715:A:AG | acceptor_gain | 0.9800 |
| 6:122783716:G:GG | acceptor_gain | 0.9800 |
| 6:122781085:G:A | acceptor_gain | 0.9700 |
| 6:122781092:GTC:G | acceptor_gain | 0.9700 |
| 6:122781066:T:G | acceptor_gain | 0.9600 |
| 6:122781088:CTCA:C | acceptor_loss | 0.9600 |
AlphaMissense
888 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:122780318:G:A | G34E | 0.994 |
| 6:122780454:A:C | R79S | 0.994 |
| 6:122780454:A:T | R79S | 0.994 |
| 6:122783741:G:C | A125P | 0.994 |
| 6:122780310:G:C | R31S | 0.992 |
| 6:122780310:G:T | R31S | 0.992 |
| 6:122780383:A:C | S56R | 0.992 |
| 6:122780385:C:A | S56R | 0.992 |
| 6:122780385:C:G | S56R | 0.992 |
| 6:122780428:T:C | F71L | 0.992 |
| 6:122780430:T:A | F71L | 0.992 |
| 6:122780430:T:G | F71L | 0.992 |
| 6:122779819:T:A | W9R | 0.991 |
| 6:122779819:T:C | W9R | 0.991 |
| 6:122779843:T:C | F17L | 0.991 |
| 6:122779845:T:A | F17L | 0.991 |
| 6:122779845:T:G | F17L | 0.991 |
| 6:122783742:C:A | A125D | 0.990 |
| 6:122779821:G:C | W9C | 0.989 |
| 6:122779821:G:T | W9C | 0.989 |
| 6:122780309:G:C | R31T | 0.989 |
| 6:122779857:G:A | M21I | 0.988 |
| 6:122779857:G:C | M21I | 0.988 |
| 6:122779857:G:T | M21I | 0.988 |
| 6:122780453:G:C | R79T | 0.988 |
| 6:122781093:T:C | S83P | 0.988 |
| 6:122781100:T:A | V85D | 0.988 |
| 6:122783748:G:C | R127P | 0.988 |
| 6:122780303:C:A | A29D | 0.986 |
| 6:122780309:G:T | R31M | 0.986 |
dbSNP variants (sampled 300 via entrez): RS1000071668 (6:122780449 G>GATAGAA), RS1000123603 (6:122774503 T>G), RS1000308461 (6:122749176 A>T), RS1000322593 (6:122755473 T>C), RS1000412186 (6:122774845 T>C), RS1000445236 (6:122751500 T>C), RS1000555682 (6:122756793 A>G,T), RS1000686929 (6:122778754 C>T), RS1000725497 (6:122773291 T>C), RS1000786660 (6:122763149 G>A,C), RS1000839342 (6:122761530 G>A), RS1001030626 (6:122761201 T>C), RS1001064165 (6:122750412 T>C), RS1001175666 (6:122762520 C>A,T), RS1001313328 (6:122783989 C>A,T)
Disease associations
OMIM: gene MIM:602965 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004162_26 | Carotid plaque burden | 2.000000e-06 |
| GCST008246_2 | Airway obstruction (FEV1/FVC<lower limit of normal) in never smokers | 4.000000e-06 |
| GCST008247_2 | Airway obstruction (FEV1/FVC<70%) in never smokers | 3.000000e-07 |
| GCST010725_10 | Malaria | 3.000000e-07 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006501 | carotid plaque build |
| EFO:0003892 | pulmonary function measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL3826863 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: other protein — Fatty acid-binding proteins
ChEMBL bioactivities
48 potent at pChembl≥5 of 52 total, top 48 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
PubChem BioAssay actives
48 with measured affinity, of 72 total; 44 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 |
|---|---|---|---|---|
| 4-[2-[5-(2-chlorophenyl)-1-(4-propan-2-ylphenyl)pyrazol-3-yl]-4-fluorophenoxy]butanoic acid | 2082688: Binding affinity to human FABP7 assessed as dissociation constant | ic50 | 0.0200 | uM |
| trans-(2S,4S)-2,4-diphenyl-3-[(1S,2R)-2-phenylcyclohexyl]oxycarbonylcyclobutane-1-carboxylic acid | 1404707: Displacement of ANS from recombinant human N-terminal His-tagged FABP7 expressed in Escherichia coli BL21(DE3) after 20 mins by fluorescence assay | ki | 0.1500 | uM |
| trans-(2S,4S)-2,4-diphenyl-3-[(1R,2S)-2-phenylcyclohexyl]oxycarbonylcyclobutane-1-carboxylic acid | 1404707: Displacement of ANS from recombinant human N-terminal His-tagged FABP7 expressed in Escherichia coli BL21(DE3) after 20 mins by fluorescence assay | ki | 0.3300 | uM |
| trans-(2S,4S)-2,4-diphenyl-3-(2-phenylphenoxy)carbonylcyclobutane-1-carboxylic acid | 1404707: Displacement of ANS from recombinant human N-terminal His-tagged FABP7 expressed in Escherichia coli BL21(DE3) after 20 mins by fluorescence assay | ki | 0.3500 | uM |
| trans-(2R,4R)-3-naphthalen-1-yloxycarbonyl-2,4-diphenylcyclobutane-1-carboxylic acid | 2082690: Binding affinity to human FABP7 assessed as inhibition constant | ki | 0.4000 | uM |
| trans-(2S,4S)-2,4-bis(2-methoxyphenyl)-3-[(1R,2S)-2-phenylcyclohexyl]oxycarbonylcyclobutane-1-carboxylic acid | 1404707: Displacement of ANS from recombinant human N-terminal His-tagged FABP7 expressed in Escherichia coli BL21(DE3) after 20 mins by fluorescence assay | ki | 0.4000 | uM |
| 3-naphthalen-1-yloxycarbonyl-2,4-diphenylcyclobutane-1-carboxylic acid | 1404713: Displacement of NBD-stearate from recombinant human N-terminal His-tagged FABP7 expressed in Escherichia coli BL21(DE3) by fluorescence assay | ki | 0.4000 | uM |
| trans-(2S,4S)-3-naphthalen-1-yloxycarbonyl-2,4-diphenylcyclobutane-1-carboxylic acid | 1404707: Displacement of ANS from recombinant human N-terminal His-tagged FABP7 expressed in Escherichia coli BL21(DE3) after 20 mins by fluorescence assay | ki | 0.4500 | uM |
| trans-(2S,4S)-3-cyclohexyloxycarbonyl-2,4-diphenylcyclobutane-1-carboxylic acid | 1404707: Displacement of ANS from recombinant human N-terminal His-tagged FABP7 expressed in Escherichia coli BL21(DE3) after 20 mins by fluorescence assay | ki | 0.5000 | uM |
| trans-(2S,4S)-2,4-diphenyl-3-phenylmethoxycarbonylcyclobutane-1-carboxylic acid | 1404707: Displacement of ANS from recombinant human N-terminal His-tagged FABP7 expressed in Escherichia coli BL21(DE3) after 20 mins by fluorescence assay | ki | 0.5300 | uM |
| trans-(2S,4S)-3-[2-(2-hydroxyphenyl)phenoxy]carbonyl-2,4-diphenylcyclobutane-1-carboxylic acid | 1404707: Displacement of ANS from recombinant human N-terminal His-tagged FABP7 expressed in Escherichia coli BL21(DE3) after 20 mins by fluorescence assay | ki | 0.5400 | uM |
| trans-(2S,4S)-2,4-diphenyl-3-(2,4,5-trichlorophenoxy)carbonylcyclobutane-1-carboxylic acid | 1404707: Displacement of ANS from recombinant human N-terminal His-tagged FABP7 expressed in Escherichia coli BL21(DE3) after 20 mins by fluorescence assay | ki | 0.5400 | uM |
| trans-(2S,4S)-3-[3-(2-oxo-1,3-dihydroindol-6-yl)phenoxy]carbonyl-2,4-diphenylcyclobutane-1-carboxylic acid | 2014899: Displacement of fluorescent probe ANS from FABP7 (unknown origin) assessed as inhibition constant by fluorescence based microplate reader analysis | ki | 0.5400 | uM |
| trans-(2S,4S)-3-[3-(1,3-benzodioxol-5-yl)phenoxy]carbonyl-2,4-diphenylcyclobutane-1-carboxylic acid | 2014899: Displacement of fluorescent probe ANS from FABP7 (unknown origin) assessed as inhibition constant by fluorescence based microplate reader analysis | ki | 0.5700 | uM |
| trans-(2S,4S)-3-(2-cyano-5-phenylphenoxy)carbonyl-2,4-diphenylcyclobutane-1-carboxylic acid | 2014899: Displacement of fluorescent probe ANS from FABP7 (unknown origin) assessed as inhibition constant by fluorescence based microplate reader analysis | ki | 0.6300 | uM |
| trans-(2S,4S)-2,4-bis(2-methoxyphenyl)-3-naphthalen-1-yloxycarbonylcyclobutane-1-carboxylic acid | 1404707: Displacement of ANS from recombinant human N-terminal His-tagged FABP7 expressed in Escherichia coli BL21(DE3) after 20 mins by fluorescence assay | ki | 0.6700 | uM |
| trans-(2S,4S)-2,4-diphenyl-3-(3-phenylphenoxy)carbonylcyclobutane-1-carboxylic acid | 1404707: Displacement of ANS from recombinant human N-terminal His-tagged FABP7 expressed in Escherichia coli BL21(DE3) after 20 mins by fluorescence assay | ki | 0.7400 | uM |
| trans-(2S,4S)-3-(3-ethynylphenoxy)carbonyl-2,4-diphenylcyclobutane-1-carboxylic acid | 1404707: Displacement of ANS from recombinant human N-terminal His-tagged FABP7 expressed in Escherichia coli BL21(DE3) after 20 mins by fluorescence assay | ki | 0.7800 | uM |
| trans-(2S,4S)-3-[3-(3,6-dihydro-2H-pyran-4-yl)phenoxy]carbonyl-2,4-diphenylcyclobutane-1-carboxylic acid | 2082690: Binding affinity to human FABP7 assessed as inhibition constant | ki | 0.8300 | uM |
| trans-(2S,4S)-3-(2-iodophenoxy)carbonyl-2,4-diphenylcyclobutane-1-carboxylic acid | 1404707: Displacement of ANS from recombinant human N-terminal His-tagged FABP7 expressed in Escherichia coli BL21(DE3) after 20 mins by fluorescence assay | ki | 0.9400 | uM |
| trans-(2S,4S)-3-(2-cyano-5-phenylphenoxy)carbonyl-2,4-bis(2-methoxyphenyl)cyclobutane-1-carboxylic acid | 2014899: Displacement of fluorescent probe ANS from FABP7 (unknown origin) assessed as inhibition constant by fluorescence based microplate reader analysis | ki | 0.9600 | uM |
| trans-(2S,4S)-3-(5-ethynylnaphthalen-1-yl)oxycarbonyl-2,4-diphenylcyclobutane-1-carboxylic acid | 1404707: Displacement of ANS from recombinant human N-terminal His-tagged FABP7 expressed in Escherichia coli BL21(DE3) after 20 mins by fluorescence assay | ki | 1.0300 | uM |
| trans-(2S,4S)-3-[3-(1,3-benzodioxol-5-yl)phenoxy]carbonyl-2,4-bis(2-methoxyphenyl)cyclobutane-1-carboxylic acid | 2014899: Displacement of fluorescent probe ANS from FABP7 (unknown origin) assessed as inhibition constant by fluorescence based microplate reader analysis | ki | 1.0400 | uM |
| trans-(2S,4S)-3-[3-[1-[2-[2-(2-ethoxyethoxy)ethoxy]ethyl]triazol-4-yl]phenoxy]carbonyl-2,4-diphenylcyclobutane-1-carboxylic acid | 1404707: Displacement of ANS from recombinant human N-terminal His-tagged FABP7 expressed in Escherichia coli BL21(DE3) after 20 mins by fluorescence assay | ki | 1.0600 | uM |
| trans-(2S,4S)-2,4-bis(4-hydroxyphenyl)-3-naphthalen-1-yloxycarbonylcyclobutane-1-carboxylic acid | 1404707: Displacement of ANS from recombinant human N-terminal His-tagged FABP7 expressed in Escherichia coli BL21(DE3) after 20 mins by fluorescence assay | ki | 1.0600 | uM |
| trans-(2R,4R)-3-[[3-(1,3-benzodioxol-5-yl)phenyl]carbamoyl]-2,4-diphenylcyclobutane-1-carboxylic acid | 2014899: Displacement of fluorescent probe ANS from FABP7 (unknown origin) assessed as inhibition constant by fluorescence based microplate reader analysis | ki | 1.0800 | uM |
| trans-(2S,4S)-3-(6-acetamidonaphthalen-1-yl)oxycarbonyl-2,4-diphenylcyclobutane-1-carboxylic acid | 1404707: Displacement of ANS from recombinant human N-terminal His-tagged FABP7 expressed in Escherichia coli BL21(DE3) after 20 mins by fluorescence assay | ki | 1.1200 | uM |
| trans-(2S,4S)-3-[(4-methoxyphenyl)methoxycarbonyl]-2,4-diphenylcyclobutane-1-carboxylic acid | 1404707: Displacement of ANS from recombinant human N-terminal His-tagged FABP7 expressed in Escherichia coli BL21(DE3) after 20 mins by fluorescence assay | ki | 1.1400 | uM |
| trans-(2S,4S)-3-[(4-bromophenyl)methoxycarbonyl]-2,4-diphenylcyclobutane-1-carboxylic acid | 1404707: Displacement of ANS from recombinant human N-terminal His-tagged FABP7 expressed in Escherichia coli BL21(DE3) after 20 mins by fluorescence assay | ki | 1.2500 | uM |
| trans-(2R,4R)-3-naphthalen-2-yloxycarbonyl-2,4-diphenylcyclobutane-1-carboxylic acid | 2082685: Displacement of fluorescent probe ANS from FABP7 (unknown origin) assessed as inhibition constant by fluorescence based analysis | ki | 1.3000 | uM |
| trans-(2S,4S)-3-(naphthalen-1-ylcarbamoyl)-2,4-diphenylcyclobutane-1-carboxylic acid | 2082685: Displacement of fluorescent probe ANS from FABP7 (unknown origin) assessed as inhibition constant by fluorescence based analysis | ki | 1.5000 | uM |
| trans-(2R,4R)-3-[[3-(2-oxo-1,3-dihydroindol-6-yl)phenyl]carbamoyl]-2,4-diphenylcyclobutane-1-carboxylic acid | 2014899: Displacement of fluorescent probe ANS from FABP7 (unknown origin) assessed as inhibition constant by fluorescence based microplate reader analysis | ki | 1.5500 | uM |
| trans-(2S,4S)-2,4-diphenyl-3-(2,2,2-trifluoroethoxycarbonyl)cyclobutane-1-carboxylic acid | 1404707: Displacement of ANS from recombinant human N-terminal His-tagged FABP7 expressed in Escherichia coli BL21(DE3) after 20 mins by fluorescence assay | ki | 1.5900 | uM |
| trans-(2S,4S)-3-[(4-fluorophenyl)methoxycarbonyl]-2,4-diphenylcyclobutane-1-carboxylic acid | 1404707: Displacement of ANS from recombinant human N-terminal His-tagged FABP7 expressed in Escherichia coli BL21(DE3) after 20 mins by fluorescence assay | ki | 1.6500 | uM |
| trans-(2R,4R)-3-[(2-cyano-5-phenylphenyl)carbamoyl]-2,4-diphenylcyclobutane-1-carboxylic acid | 2014899: Displacement of fluorescent probe ANS from FABP7 (unknown origin) assessed as inhibition constant by fluorescence based microplate reader analysis | ki | 1.6900 | uM |
| trans-(2S,4S)-3-[2-cyano-5-(3,6-dihydro-2H-pyran-4-yl)phenoxy]carbonyl-2,4-diphenylcyclobutane-1-carboxylic acid | 2014899: Displacement of fluorescent probe ANS from FABP7 (unknown origin) assessed as inhibition constant by fluorescence based microplate reader analysis | ki | 1.7500 | uM |
| trans-(2S,4S)-2,4-bis(4-hydroxy-3-methoxyphenyl)-3-naphthalen-1-yloxycarbonylcyclobutane-1-carboxylic acid | 1404707: Displacement of ANS from recombinant human N-terminal His-tagged FABP7 expressed in Escherichia coli BL21(DE3) after 20 mins by fluorescence assay | ki | 2.1200 | uM |
| trans-(2S,4S)-2,4-diphenyl-3-(4-phenylphenoxy)carbonylcyclobutane-1-carboxylic acid | 1404707: Displacement of ANS from recombinant human N-terminal His-tagged FABP7 expressed in Escherichia coli BL21(DE3) after 20 mins by fluorescence assay | ki | 2.2700 | uM |
| trans-(2S,4S)-3-(2,3-dihydro-1H-inden-2-yloxycarbonyl)-2,4-diphenylcyclobutane-1-carboxylic acid | 1404707: Displacement of ANS from recombinant human N-terminal His-tagged FABP7 expressed in Escherichia coli BL21(DE3) after 20 mins by fluorescence assay | ki | 2.4100 | uM |
| trans-(2S,4S)-3-(9H-fluoren-9-ylmethoxycarbonyl)-2,4-diphenylcyclobutane-1-carboxylic acid | 1404707: Displacement of ANS from recombinant human N-terminal His-tagged FABP7 expressed in Escherichia coli BL21(DE3) after 20 mins by fluorescence assay | ki | 2.7000 | uM |
| 1-N,3-N-dinaphthalen-1-yl-2,4-diphenylcyclobutane-1,3-dicarboxamide | 2082685: Displacement of fluorescent probe ANS from FABP7 (unknown origin) assessed as inhibition constant by fluorescence based analysis | ki | 3.3000 | uM |
| trans-(2S,4S)-2,4-bis(2-methoxyphenyl)-3-[(2-phenylphenyl)methoxycarbonyl]cyclobutane-1-carboxylic acid | 2014899: Displacement of fluorescent probe ANS from FABP7 (unknown origin) assessed as inhibition constant by fluorescence based microplate reader analysis | ki | 3.3400 | uM |
| trans-(2S,4S)-2,4-bis(2-chlorophenyl)-3-(9H-fluoren-9-ylmethoxycarbonyl)cyclobutane-1-carboxylic acid | 1404707: Displacement of ANS from recombinant human N-terminal His-tagged FABP7 expressed in Escherichia coli BL21(DE3) after 20 mins by fluorescence assay | ki | 3.5400 | uM |
| trans-(2S,4S)-2,4-bis(2,6-dichlorophenyl)-3-[(1R,2S)-2-phenylcyclohexyl]oxycarbonylcyclobutane-1-carboxylic acid | 1404707: Displacement of ANS from recombinant human N-terminal His-tagged FABP7 expressed in Escherichia coli BL21(DE3) after 20 mins by fluorescence assay | ki | 6.3200 | uM |
CTD chemical–gene interactions
37 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression, decreases expression | 7 |
| methylmercuric chloride | decreases expression, affects cotreatment | 5 |
| trichostatin A | affects cotreatment, increases expression | 3 |
| Tretinoin | increases expression, decreases expression | 3 |
| bisphenol A | decreases expression, increases expression | 2 |
| sodium arsenite | affects methylation, decreases expression | 2 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | increases expression, decreases expression, affects cotreatment | 2 |
| Resveratrol | increases expression, affects cotreatment, decreases expression | 2 |
| Vorinostat | affects cotreatment, increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| glycidyl methacrylate | decreases expression | 1 |
| terbufos | increases methylation | 1 |
| 2-palmitoylglycerol | decreases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression, increases expression | 1 |
| LDN 193189 | affects cotreatment, increases expression | 1 |
| FV-429 compound | affects cotreatment, decreases reaction, increases expression | 1 |
| Temozolomide | increases expression | 1 |
| Arsenic Trioxide | decreases expression | 1 |
| Alitretinoin | decreases expression | 1 |
| Benzo(a)pyrene | affects methylation, increases methylation | 1 |
| Carbamazepine | affects expression | 1 |
| Chenodeoxycholic Acid | decreases expression | 1 |
| Cytarabine | increases expression | 1 |
| Docosahexaenoic Acids | decreases response to substance | 1 |
| Fonofos | increases methylation | 1 |
| Fluorouracil | decreases expression | 1 |
| Mercury | increases expression | 1 |
| Nickel | decreases expression | 1 |
| Oxygen | decreases reaction, increases expression, affects cotreatment | 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 |
|---|---|---|---|
| CHEMBL3828898 | Binding | Displacement of 1,8-ANS from His6-tagged FABP7 (unknown origin) expressed in Escherichia coli BL21(DE3) cells at 25 uM by fluorescence assay relative to control | The discovery of novel and selective fatty acid binding protein 4 inhibitors by virtual screening and biological evaluation. — Bioorg Med Chem |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.