FIBP
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Also known as FGFIBP
Summary
FIBP (FGF1 intracellular binding protein, HGNC:3705) is a protein-coding gene on chromosome 11q13.1, encoding Acidic fibroblast growth factor intracellular-binding protein (O43427). May be involved in mitogenic function of FGF1.
Acidic fibroblast growth factor is mitogenic for a variety of different cell types and acts by stimulating mitogenesis or inducing morphological changes and differentiation. The FIBP protein is an intracellular protein that binds selectively to acidic fibroblast growth factor (aFGF). It is postulated that FIBP may be involved in the mitogenic action of aFGF. Two transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 9158 — RefSeq curated summary.
At a glance
- Gene–disease (curated): tall stature-intellectual disability-renal anomalies syndrome (Strong, GenCC)
- GWAS associations: 4
- Clinical variants (ClinVar): 104 total — 1 pathogenic, 4 likely-pathogenic
- Phenotypes (HPO): 58
- Druggable target: yes
- MANE Select transcript:
NM_004214
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:3705 |
| Approved symbol | FIBP |
| Name | FGF1 intracellular binding protein |
| Location | 11q13.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FGFIBP |
| Ensembl gene | ENSG00000172500 |
| Ensembl biotype | protein_coding |
| OMIM | 608296 |
| Entrez | 9158 |
Gene structure
Transcript identifiers
Ensembl transcripts: 19 — 9 protein_coding, 6 retained_intron, 3 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000338369, ENST00000357519, ENST00000426652, ENST00000442885, ENST00000525765, ENST00000528937, ENST00000531115, ENST00000532229, ENST00000532679, ENST00000532934, ENST00000533037, ENST00000533045, ENST00000534032, ENST00000873727, ENST00000926949, ENST00000926950, ENST00000926951, ENST00000967693, ENST00000967694
RefSeq mRNA: 2 — MANE Select: NM_004214
NM_004214, NM_198897
CCDS: CCDS8118, CCDS8119
Canonical transcript exons
ENST00000357519 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000000132 | 65883740 | 65884043 |
| ENSE00001380550 | 65888334 | 65888471 |
| ENSE00003491324 | 65884935 | 65884998 |
| ENSE00003520177 | 65885530 | 65885663 |
| ENSE00003543689 | 65887934 | 65888132 |
| ENSE00003545875 | 65885078 | 65885186 |
| ENSE00003570357 | 65886322 | 65886422 |
| ENSE00003618983 | 65884570 | 65884656 |
| ENSE00003662533 | 65887600 | 65887726 |
| ENSE00003690488 | 65884392 | 65884489 |
Expression profiles
Bgee: expression breadth ubiquitous, 290 present calls, max score 98.05.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 56.8476 / max 222.6898, expressed in 1822 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 120722 | 56.8476 | 1822 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| stromal cell of endometrium | CL:0002255 | 98.05 | gold quality |
| right frontal lobe | UBERON:0002810 | 97.38 | gold quality |
| prefrontal cortex | UBERON:0000451 | 97.21 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 97.12 | gold quality |
| apex of heart | UBERON:0002098 | 96.97 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 96.95 | gold quality |
| cerebellar cortex | UBERON:0002129 | 96.90 | gold quality |
| ganglionic eminence | UBERON:0004023 | 96.89 | gold quality |
| cortical plate | UBERON:0005343 | 96.80 | gold quality |
| left testis | UBERON:0004533 | 96.72 | gold quality |
| right testis | UBERON:0004534 | 96.62 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 96.38 | gold quality |
| cingulate cortex | UBERON:0003027 | 96.31 | gold quality |
| embryo | UBERON:0000922 | 96.28 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 96.24 | gold quality |
| cerebellum | UBERON:0002037 | 96.10 | gold quality |
| amygdala | UBERON:0001876 | 96.01 | gold quality |
| frontal cortex | UBERON:0001870 | 95.95 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 95.93 | gold quality |
| neocortex | UBERON:0001950 | 95.86 | gold quality |
| granulocyte | CL:0000094 | 95.84 | gold quality |
| ventricular zone | UBERON:0003053 | 95.72 | gold quality |
| right adrenal gland | UBERON:0001233 | 95.66 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 95.60 | gold quality |
| pons | UBERON:0000988 | 95.42 | gold quality |
| endometrium epithelium | UBERON:0004811 | 95.35 | gold quality |
| hypothalamus | UBERON:0001898 | 95.28 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 95.26 | gold quality |
| left adrenal gland | UBERON:0001234 | 95.24 | gold quality |
| testis | UBERON:0000473 | 95.23 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-13 | yes | 26.01 |
| E-ANND-3 | yes | 8.33 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
9 targeting FIBP, 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-519E-5P | 99.92 | 69.62 | 2358 |
| HSA-MIR-4319 | 99.76 | 69.83 | 2586 |
| HSA-MIR-670-5P | 99.67 | 69.94 | 1565 |
| HSA-MIR-125A-5P | 99.36 | 70.59 | 1640 |
| HSA-MIR-125B-5P | 99.36 | 70.36 | 1662 |
| HSA-MIR-5701 | 98.97 | 69.54 | 1502 |
| HSA-MIR-4656 | 98.79 | 66.22 | 1306 |
| HSA-MIR-6501-3P | 98.71 | 67.45 | 1480 |
| HSA-MIR-4456 | 97.50 | 64.88 | 1678 |
Literature-anchored findings (GeneRIF, showing 4)
- Data Show aFGF was expressed in regenerative hepatocytes, but not in fibroblasts, suggesting its role in promoting oxidative stress produced by hepatocytes may contribute to the development of fibrous bands in hepatic cirrhosis. (PMID:17497037)
- these findings provide convincing evidence implicating FIBP aberrations in the newly recognized overgrowth syndrome and expand the associated phenotypes to include possible Wilms tumor predisposition. (PMID:27183861)
- FIBP interacts with transcription factor STAT3 to induce EME1 expression and drive radioresistance in lung adenocarcinoma. (PMID:37564211)
- New cases of recently described Thauvin-Robinet-Faivre syndrome with a novel homozygous FIBP gene variant. (PMID:37876348)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | fibpa | ENSDARG00000016058 |
| danio_rerio | fibpb | ENSDARG00000087666 |
| mus_musculus | Fibp | ENSMUSG00000024911 |
| rattus_norvegicus | Fibp | ENSRNOG00000020567 |
| drosophila_melanogaster | Fibp | FBGN0036911 |
Protein
Protein identifiers
Acidic fibroblast growth factor intracellular-binding protein — O43427 (reviewed: O43427)
Alternative names: FGF-1 intracellular-binding protein
All UniProt accessions (4): E9PJW6, E9PSD3, O43427, H0YCE7
UniProt curated annotations — full annotation on UniProt →
Function. May be involved in mitogenic function of FGF1. May mediate with IER2 FGF-signaling in the establishment of laterality in the embryo.
Subunit / interactions. Binds to internalized FGF1; this interaction is increased in the presence of CSNKB, suggesting a possible cooperative interaction between CSNKB and FIBP in binding to FGF1.
Subcellular location. Nucleus. Endomembrane system.
Tissue specificity. Highly expressed in heart, skeletal muscle and pancreas. Expressed at lower levels in brain. Also found in placenta, liver and kidney.
Disease relevance. Thauvin-Robinet-Faivre syndrome (TROFAS) [MIM:617107] A rare autosomal recessive syndrome characterized by generalized overgrowth, developmental delay, learning disabilities, and variable congenital abnormalities including congenital heart defects, renal dysplasia, and skeletal defects. The disease is caused by variants affecting the gene represented in this entry.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O43427-1 | Long | yes |
| O43427-2 | Short |
RefSeq proteins (2): NP_004205, NP_942600 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR008614 | FIBP | Family |
Pfam: PF05427
UniProt features (8 total): sequence variant 4, initiator methionine 1, chain 1, modified residue 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O43427-F1 | 92.33 | 0.85 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (1): 2
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 272 (showing top):
MORF_MTA1, GOBP_PLATELET_ACTIVATION, MORF_HDAC2, chr11q13, GOBP_WOUND_HEALING, GOBP_CELL_CELL_ADHESION, GATA3_01, GOBP_RESPONSE_TO_FIBROBLAST_GROWTH_FACTOR, MORF_BUB3, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_13, GOBP_RESPONSE_TO_GROWTH_FACTOR, RYTTCCTG_ETS2_B, GOBP_FIBROBLAST_GROWTH_FACTOR_RECEPTOR_SIGNALING_PATHWAY, GOBP_HOMOTYPIC_CELL_CELL_ADHESION, GOBP_HEMOSTASIS
GO Biological Process (2): fibroblast growth factor receptor signaling pathway (GO:0008543), platelet aggregation (GO:0070527)
GO Molecular Function (1): fibroblast growth factor binding (GO:0017134)
GO Cellular Component (5): nucleus (GO:0005634), mitochondrion (GO:0005739), endomembrane system (GO:0012505), membrane (GO:0016020), nuclear speck (GO:0016607)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| intracellular membrane-bounded organelle | 2 |
| cellular anatomical structure | 2 |
| cell surface receptor protein tyrosine kinase signaling pathway | 1 |
| cellular response to fibroblast growth factor stimulus | 1 |
| platelet activation | 1 |
| homotypic cell-cell adhesion | 1 |
| growth factor binding | 1 |
| cytoplasm | 1 |
| vacuole | 1 |
| plasma membrane | 1 |
| nuclear ribonucleoprotein granule | 1 |
Protein interactions and networks
STRING
1326 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| FIBP | FGF1 | P05230 | 934 |
| FIBP | C2CD5 | Q86YS7 | 544 |
| FIBP | IER2 | Q9BTL4 | 418 |
| FIBP | SIPA1 | Q96FS4 | 364 |
| FIBP | RFX2 | P48378 | 351 |
| FIBP | TBC1D25 | Q3MII6 | 335 |
| FIBP | CTSW | P56202 | 332 |
| FIBP | IMP3 | Q9NV31 | 328 |
| FIBP | EIF1AD | Q8N9N8 | 293 |
| FIBP | FGF11 | Q92914 | 283 |
| FIBP | KLK9 | Q9UKQ9 | 280 |
| FIBP | WDR3 | Q9UNX4 | 276 |
| FIBP | GNPDA1 | P46926 | 271 |
| FIBP | R3HCC1 | Q9Y3T6 | 270 |
| FIBP | ARFGAP2 | Q8N6H7 | 267 |
IntAct
43 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CDK5 | FIBP | psi-mi:“MI:0914”(association) | 0.840 |
| FIBP | CDK5 | psi-mi:“MI:0914”(association) | 0.840 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| DLK1 | TCAF2 | psi-mi:“MI:0914”(association) | 0.530 |
| CD44 | PDPK1 | psi-mi:“MI:0914”(association) | 0.530 |
| FIBP | DAPK1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| GSK3B | FIBP | psi-mi:“MI:0915”(physical association) | 0.370 |
| K8.1 | EXOC5 | psi-mi:“MI:0914”(association) | 0.350 |
| MAPT | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
| SYT2 | ARHGAP10 | psi-mi:“MI:0914”(association) | 0.350 |
| ZCCHC10 | C1orf226 | psi-mi:“MI:0914”(association) | 0.350 |
| IL13 | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| CD6 | CIBAR1 | psi-mi:“MI:0914”(association) | 0.350 |
| AVPR1B | KLRG2 | psi-mi:“MI:0914”(association) | 0.350 |
| EFNB1 | KRBA1 | psi-mi:“MI:0914”(association) | 0.350 |
| KCNE3 | PIK3R2 | psi-mi:“MI:0914”(association) | 0.350 |
| WDFY2 | U2SURP | psi-mi:“MI:0914”(association) | 0.350 |
| DLL1 | GNPAT | psi-mi:“MI:0914”(association) | 0.350 |
| SLC5A6 | SLC31A1 | psi-mi:“MI:0914”(association) | 0.350 |
| FIBP | DNM1L | psi-mi:“MI:0914”(association) | 0.350 |
| DLK1 | PLPP3 | psi-mi:“MI:0914”(association) | 0.350 |
| FIBP | AGRN | psi-mi:“MI:0914”(association) | 0.350 |
| LGALS3 | SDCBP | psi-mi:“MI:0914”(association) | 0.350 |
| CFTR | UBA6 | psi-mi:“MI:2364”(proximity) | 0.270 |
BioGRID (93): FIBP (Affinity Capture-MS), C2CD5 (Affinity Capture-MS), KIAA0195 (Affinity Capture-MS), CABLES2 (Affinity Capture-MS), CABLES1 (Affinity Capture-MS), CDK5 (Affinity Capture-MS), GRAMD1C (Affinity Capture-MS), FIBP (Affinity Capture-MS), FIBP (Affinity Capture-MS), FIBP (Affinity Capture-MS), CDK5 (Affinity Capture-MS), C2CD5 (Affinity Capture-MS), CABLES2 (Affinity Capture-MS), CABLES1 (Affinity Capture-MS), KIAA0195 (Affinity Capture-MS)
ESM2 similar proteins: A0A084B9Z7, A0A084B9Z8, A0A0A2JP58, A0A142C7A3, A0A179G9G5, A0A3G9HCC8, A0A455M2Z1, A0A481WNL0, A1Z8X3, A3EXH2, A8BQJ3, A9US33, C9K7F3, F4J8D3, L7WMF9, M1WCE9, O36385, O43427, P0A3V2, P0A3V3, P12798, P13157, P25203, P34335, P34596, P46018, P9WF00, Q0D1P5, Q28PE4, Q2U639, Q4IB89, Q4WVM7, Q5BHE2, Q6C229, Q6UDH7, Q70PP2, Q751J3, Q751N0, Q759Y1, Q75CM2
Diamond homologs: O43427, O46431, Q6T938, Q9JI19
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
104 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 4 |
| Uncertain significance | 64 |
| Likely benign | 11 |
| Benign | 5 |
Top pathogenic / likely-pathogenic (5)
| Variant ID | HGVS | Classification |
|---|---|---|
| 3572869 | FIBP, 7-BP DUP, NT412-3 | Pathogenic |
| 254242 | NM_004214.5(FIBP):c.175_176insTAA (p.His59delinsLeuAsn) | Likely pathogenic |
| 3064770 | NM_004214.5(FIBP):c.558_559del (p.Gly187fs) | Likely pathogenic |
| 3065901 | NM_004214.5(FIBP):c.747del (p.His250fs) | Likely pathogenic |
| 3347904 | NM_004214.5(FIBP):c.513-1G>C | Likely pathogenic |
SpliceAI
1745 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:65884386:GCTCA:G | donor_loss | 1.0000 |
| 11:65884387:CTCAC:C | donor_loss | 1.0000 |
| 11:65884388:TCA:T | donor_loss | 1.0000 |
| 11:65884389:CAC:C | donor_loss | 1.0000 |
| 11:65884486:CAAA:C | acceptor_gain | 1.0000 |
| 11:65884488:AA:A | acceptor_gain | 1.0000 |
| 11:65884490:C:CC | acceptor_gain | 1.0000 |
| 11:65884491:T:C | acceptor_loss | 1.0000 |
| 11:65884994:CCAGG:C | acceptor_gain | 1.0000 |
| 11:65884995:CAGG:C | acceptor_gain | 1.0000 |
| 11:65884995:CAGGC:C | acceptor_gain | 1.0000 |
| 11:65884999:C:CC | acceptor_gain | 1.0000 |
| 11:65885073:GTCAC:G | donor_loss | 1.0000 |
| 11:65885077:CCT:C | donor_gain | 1.0000 |
| 11:65885079:T:TA | donor_gain | 1.0000 |
| 11:65885185:GT:G | acceptor_gain | 1.0000 |
| 11:65885187:C:CC | acceptor_gain | 1.0000 |
| 11:65885196:CA:C | acceptor_gain | 1.0000 |
| 11:65885197:A:AC | acceptor_gain | 1.0000 |
| 11:65885197:A:C | acceptor_gain | 1.0000 |
| 11:65885662:CC:C | acceptor_gain | 1.0000 |
| 11:65885663:CC:C | acceptor_gain | 1.0000 |
| 11:65886317:CTCA:C | donor_loss | 1.0000 |
| 11:65886318:TCA:T | donor_loss | 1.0000 |
| 11:65886320:A:AG | donor_loss | 1.0000 |
| 11:65886321:CCT:C | donor_loss | 1.0000 |
| 11:65886418:TCAAA:T | acceptor_gain | 1.0000 |
| 11:65886419:CAAA:C | acceptor_gain | 1.0000 |
| 11:65886419:CAAAC:C | acceptor_gain | 1.0000 |
| 11:65886420:AAA:A | acceptor_gain | 1.0000 |
AlphaMissense
2361 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:65886408:T:A | K142N | 1.000 |
| 11:65886408:T:G | K142N | 1.000 |
| 11:65885548:A:G | W210R | 0.999 |
| 11:65885548:A:T | W210R | 0.999 |
| 11:65885629:G:T | R183S | 0.999 |
| 11:65885646:A:T | V177D | 0.999 |
| 11:65886403:A:T | V144D | 0.999 |
| 11:65886410:T:C | K142E | 0.999 |
| 11:65886414:G:C | N140K | 0.999 |
| 11:65886414:G:T | N140K | 0.999 |
| 11:65887603:T:A | R136S | 0.999 |
| 11:65887603:T:G | R136S | 0.999 |
| 11:65887604:C:G | R136T | 0.999 |
| 11:65887680:T:C | K111E | 0.999 |
| 11:65887685:C:T | G109D | 0.999 |
| 11:65887686:C:G | G109R | 0.999 |
| 11:65888352:A:G | W23R | 0.999 |
| 11:65888352:A:T | W23R | 0.999 |
| 11:65884628:G:T | A290D | 0.998 |
| 11:65885568:G:T | A203D | 0.998 |
| 11:65885628:C:G | R183P | 0.998 |
| 11:65886398:T:C | K146E | 0.998 |
| 11:65886406:C:G | R143P | 0.998 |
| 11:65886409:T:A | K142I | 0.998 |
| 11:65887607:C:G | R135P | 0.998 |
| 11:65887652:A:G | L120P | 0.998 |
| 11:65887660:C:A | K117N | 0.998 |
| 11:65887660:C:G | K117N | 0.998 |
| 11:65887667:C:T | G115D | 0.998 |
| 11:65887671:T:C | K114E | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000326802 (11:65888271 G>C), RS1000765021 (11:65884006 G>A), RS1001384988 (11:65888785 T>A), RS1001548379 (11:65885930 A>G), RS1001833034 (11:65888550 G>T), RS1002178705 (11:65886798 T>C), RS1002794877 (11:65889576 A>C,T), RS1002893945 (11:65884536 A>G,T), RS1003017807 (11:65883785 C>G), RS1003077274 (11:65889913 T>C), RS1003462978 (11:65890158 TC>T,TCC), RS1005188812 (11:65888678 C>A,T), RS1005734384 (11:65888538 A>G), RS1006899644 (11:65886615 C>A,T), RS1007226644 (11:65888248 A>C,G,T)
Disease associations
OMIM: gene MIM:608296 | disease phenotypes: MIM:617107
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| tall stature-intellectual disability-renal anomalies syndrome | Strong | Autosomal recessive |
Mondo (3): tall stature-intellectual disability-renal anomalies syndrome (MONDO:0014918), coloboma (MONDO:0001476), learning disability (MONDO:0004681)
Orphanet (2): Tall stature-intellectual disability-renal anomalies syndrome (Orphanet:500095), OBSOLETE: Ocular coloboma (Orphanet:194)
HPO phenotypes
58 total (30 of 58 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000003 | Multicystic kidney dysplasia |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000023 | Inguinal hernia |
| HP:0000098 | Tall stature |
| HP:0000105 | Enlarged kidney |
| HP:0000107 | Renal cyst |
| HP:0000110 | Renal dysplasia |
| HP:0000158 | Macroglossia |
| HP:0000256 | Macrocephaly |
| HP:0000286 | Epicanthus |
| HP:0000311 | Round face |
| HP:0000316 | Hypertelorism |
| HP:0000400 | Macrotia |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000411 | Protruding ear |
| HP:0000480 | Retinal coloboma |
| HP:0000483 | Astigmatism |
| HP:0000486 | Strabismus |
| HP:0000490 | Deeply set eye |
| HP:0000494 | Downslanted palpebral fissures |
| HP:0000518 | Cataract |
| HP:0000589 | Coloboma |
| HP:0000637 | Long palpebral fissure |
| HP:0000750 | Delayed speech and language development |
| HP:0001172 | Abnormal thumb morphology |
| HP:0001176 | Large hands |
| HP:0001249 | Intellectual disability |
| HP:0001256 | Mild intellectual disability |
| HP:0001263 | Global developmental delay |
| HP:0001328 | Specific learning disability |
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002481_8 | Acne (severe) | 3.000000e-11 |
| GCST004346_52 | Psoriasis | 7.000000e-09 |
| GCST005537_77 | Chronic inflammatory diseases (ankylosing spondylitis, Crohn’s disease, psoriasis, primary sclerosing cholangitis, ulcerative colitis) (pleiotropy) | 4.000000e-08 |
| GCST009798_25 | Asthma | 2.000000e-09 |
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D003103 | Coloboma | C11.250.110; C11.270.147; C16.131.384.282 |
| D007859 | Learning Disabilities | C10.597.606.150.550; C23.888.592.604.150.550; F03.625.374.188; F03.625.562 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6066519 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
4 potent at pChembl≥5 of 4 total, top 4 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 7.77 | Kd | 17.15 | nM | CHEMBL5653589 |
| 7.52 | ED50 | 30.07 | nM | CHEMBL5653589 |
| 5.75 | Kd | 1790 | nM | CHEMBL3752910 |
| 5.50 | ED50 | 3140 | nM | CHEMBL3752910 |
PubChem BioAssay actives
2 with measured affinity, of 4 total; 2 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-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2148386: Binding affinity to human FIBP incubated for 45 mins by Kinobead based pull down assay | kd | 0.0171 | uM |
| 4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2148386: Binding affinity to human FIBP incubated for 45 mins by Kinobead based pull down assay | kd | 1.7904 | uM |
CTD chemical–gene interactions
32 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, increases expression, increases methylation | 3 |
| sodium arsenite | increases abundance, decreases expression, affects cotreatment | 2 |
| cobaltous chloride | decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| bisphenol A | affects expression | 1 |
| manganese chloride | increases abundance, affects cotreatment, decreases expression | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 14-deoxy-11,12-didehydroandrographolide | decreases expression | 1 |
| jinfukang | increases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arsenic | decreases expression, increases abundance, affects cotreatment | 1 |
| Atrazine | decreases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Coumestrol | affects cotreatment, increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | affects expression | 1 |
| Hydrogen Peroxide | affects cotreatment, decreases expression | 1 |
| Manganese | affects cotreatment, decreases expression, increases abundance | 1 |
| Methapyrilene | decreases methylation | 1 |
| Smoke | increases expression | 1 |
| Theophylline | affects cotreatment, decreases expression | 1 |
| Thiram | decreases expression | 1 |
| Tunicamycin | increases expression | 1 |
| Vitamin E | increases expression | 1 |
| Cadmium Chloride | decreases expression | 1 |
| tert-Butylhydroperoxide | decreases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5651428 | Binding | Binding affinity to human FIBP incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
Cellosaurus cell lines
2 cell lines: 1 cancer cell line, 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B1S6 | Abcam HeLa FIBP KO | Cancer cell line | Female |
| CVCL_D9EX | Ubigene HEK293 FIBP KO | Transformed cell line | Female |
Clinical trials (associated diseases)
51 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00254930 | PHASE3 | COMPLETED | A Prospective Study of Risperdal (Risperidone) for the Treatment of Behavioral Disorder Following Psychological Therapy for Challenging Behavior in Learning Disabled Children |
| NCT02964884 | PHASE2 | ACTIVE_NOT_RECRUITING | Interventions for Reading Disabilities in NF1 |
| NCT00368004 | Not specified | TERMINATED | Family Studies of Uveal Coloboma |
| NCT01778543 | Not specified | RECRUITING | Pathogenesis and Genetics of Microphthalmia, Anophthalmia and Uveal Coloboma (MAC) |
| NCT04833361 | Not specified | COMPLETED | Potential Environmental Causes of Uveal Coloboma |
| NCT06293560 | Not specified | RECRUITING | Microphthalmia, Anophthalmia, and Coloboma Genetic Epidemiology in Children |
| NCT00246792 | PHASE2/PHASE3 | UNKNOWN | Enhancing Self-Understanding and Social Integration of Middle School Students With Learning Disabilities |
| NCT01337232 | PHASE1/PHASE2 | COMPLETED | Building Complex Language |
| NCT00061412 | Not specified | COMPLETED | Comprehensive Program to Improve Reading and Writing Skills in At-Risk and Dyslexic Children |
| NCT00240760 | Not specified | UNKNOWN | Memantine and Down’s Syndrome |
| NCT00930449 | Not specified | COMPLETED | Effects Of A Computerized Working Memory Training Program On Attention, Working Memory, And Academics, In Adolescents With Severe ADHD/LD |
| NCT01032369 | Not specified | UNKNOWN | The Additive Effect of Cognitive Behavioral Treatment (CBT) to Conventional Weight Loss Intervention Program for Young Adults With Intellectual Disabilities |
| NCT01426451 | Not specified | COMPLETED | Assessment of a Drama Workshop Program for Immigrant and Refugee Adolescents |
| NCT01652651 | Not specified | UNKNOWN | Risk and Resilience Factors in Learning Disabilities Population |
| NCT01818778 | Not specified | COMPLETED | The Efficacy of Using Volunteers to Implement a Cognitive Stimulation Program in Two Long-Term Care Homes |
| NCT02160886 | Not specified | COMPLETED | Effects of a Task Oriented Intervention With Two Goal-setting Approaches |
| NCT02227381 | Not specified | COMPLETED | Action Medical Research |
| NCT02345512 | Not specified | COMPLETED | Investigating the Clinical and Cost Effectiveness of Lycra Splinting |
| NCT02797301 | Not specified | COMPLETED | A Computerised Test for Assessing the Early Reading Skills |
| NCT02827396 | Not specified | COMPLETED | Effectiveness of a Training Intervention on Mental Health of Parents for Intellectually Disabled Children in Malawi |
| NCT02919215 | Not specified | TERMINATED | Teacher Help for Children and Youth With Mental Health Disorders |
| NCT02970825 | Not specified | UNKNOWN | Move and Feel Good : Effects of Intensive Physical Training on Brain Plasticity, Cognition and Psychological Well-being. |
| NCT03255499 | Not specified | UNKNOWN | Efficacy of the MovinCog Intervention in Children |
| NCT03522337 | Not specified | COMPLETED | Oral Health Promotion Among Preschool Children With Special Needs |
| NCT03626272 | Not specified | UNKNOWN | Effects of the in Situ Simulation to Competencies in Cardiopulmonary Resuscitation in the Nursing Team. |
| NCT03695068 | Not specified | UNKNOWN | Efficacy of a Two-Year Intensive Reading Intervention for Middle School English Learners With Reading Difficulties |
| NCT03717922 | Not specified | COMPLETED | Low Intensity Focused Ultrasound for Learning and Memory and Emotion Regulation |
| NCT03846271 | Not specified | UNKNOWN | Effects of Oxytocin on Reinforcement Learning |
| NCT04048213 | Not specified | UNKNOWN | The Becoming of Children With Doose Syndrome |
| NCT04178421 | Not specified | COMPLETED | Computerized Eye-tracking Attention Training for Children With Special Needs |
| NCT04280367 | Not specified | COMPLETED | Learning and Executive Function Disorders in Children and Psychosis Risk at Adult-age |
| NCT04325282 | Not specified | COMPLETED | Transcranial Magnetic Stimulation for BECTS |
| NCT04365894 | Not specified | COMPLETED | Affective Learning in Disabled Health Training |
| NCT04583332 | Not specified | COMPLETED | Efficacy of AAC for Functional Communication |
| NCT05154721 | Not specified | COMPLETED | Rhythm Training of a Serious Game on the Reading Skills of Children w/ a Specific Learning Disorder Impacting Reading |
| NCT05201534 | Not specified | RECRUITING | Interventions in Mathematics and Cognitive Skills |
| NCT05476133 | Not specified | COMPLETED | Application of a Training Program for Executive Functions in a Sample of Egyptian Children With Learning Disorder |
| NCT05686473 | Not specified | RECRUITING | Psychoeducation of Parents to Children With FASD |
| NCT05767242 | Not specified | RECRUITING | Early Neurophysiological Markers of Language Impairments |
| NCT05803278 | Not specified | COMPLETED | Online Screening and Empowerment Program for Children With SLD |
Related Atlas pages
- Associated diseases: tall stature-intellectual disability-renal anomalies syndrome
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): coloboma, learning disability, tall stature-intellectual disability-renal anomalies syndrome