FGFBP1
gene geneOn this page
Also known as HBP17FGFBP
Summary
FGFBP1 (fibroblast growth factor binding protein 1, HGNC:19695) is a protein-coding gene on chromosome 4p15.32, encoding Fibroblast growth factor-binding protein 1 (Q14512). Acts as a carrier protein that release fibroblast-binding factors (FGFs) from the extracellular matrix (EM) storage and thus enhance the mitogenic activity of FGFs.
This gene encodes a secreted fibroblast growth factor carrier protein. The encoded protein plays a critical role in cell proliferation, differentiation and migration by binding to fibroblast growth factors and potentiating their biological effects on target cells. The encoded protein may also play a role in tumor growth as an angiogenic switch molecule, and expression of this gene has been associated with several types of cancer including pancreatic and colorectal adenocarcinoma. A pseudogene of this gene is also located on the short arm of chromosome 4.
Source: NCBI Gene 9982 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 42 total
- MANE Select transcript:
NM_005130
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:19695 |
| Approved symbol | FGFBP1 |
| Name | fibroblast growth factor binding protein 1 |
| Location | 4p15.32 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | HBP17, FGFBP |
| Ensembl gene | ENSG00000137440 |
| Ensembl biotype | protein_coding |
| OMIM | 607737 |
| Entrez | 9982 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 4 protein_coding
ENST00000382333, ENST00000888688, ENST00000888689, ENST00000955057
RefSeq mRNA: 1 — MANE Select: NM_005130
NM_005130
CCDS: CCDS3418
Canonical transcript exons
ENST00000382333 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001491748 | 15935577 | 15936652 |
| ENSE00001491752 | 15938251 | 15938471 |
| ENSE00001491754 | 15938687 | 15938740 |
Expression profiles
Bgee: expression breadth ubiquitous, 171 present calls, max score 98.66.
FANTOM5 (CAGE): breadth broad, TPM avg 18.0681 / max 2528.5457, expressed in 241 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 51470 | 16.6681 | 221 |
| 51471 | 1.4000 | 138 |
Top tissues by expression
282 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| pharyngeal mucosa | UBERON:0000355 | 98.66 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 98.57 | gold quality |
| gingiva | UBERON:0001828 | 98.48 | gold quality |
| gingival epithelium | UBERON:0001949 | 98.37 | gold quality |
| esophagus mucosa | UBERON:0002469 | 98.14 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 98.10 | gold quality |
| oral cavity | UBERON:0000167 | 98.02 | gold quality |
| cervix epithelium | UBERON:0004801 | 97.47 | gold quality |
| squamous epithelium | UBERON:0006914 | 97.28 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 96.76 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 96.36 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 95.97 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 95.41 | gold quality |
| penis | UBERON:0000989 | 95.37 | gold quality |
| mammalian vulva | UBERON:0000997 | 93.32 | gold quality |
| skin of abdomen | UBERON:0001416 | 92.26 | gold quality |
| zone of skin | UBERON:0000014 | 89.90 | gold quality |
| skin of leg | UBERON:0001511 | 89.76 | gold quality |
| body of tongue | UBERON:0011876 | 89.65 | gold quality |
| upper leg skin | UBERON:0004262 | 88.23 | gold quality |
| ileal mucosa | UBERON:0000331 | 88.05 | gold quality |
| vagina | UBERON:0000996 | 87.22 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 84.57 | gold quality |
| islet of Langerhans | UBERON:0000006 | 84.47 | gold quality |
| rectum | UBERON:0001052 | 83.55 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 82.86 | gold quality |
| colonic mucosa | UBERON:0000317 | 82.73 | gold quality |
| skin of hip | UBERON:0001554 | 80.86 | gold quality |
| tongue | UBERON:0001723 | 80.72 | gold quality |
| trachea | UBERON:0003126 | 80.35 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-1 | yes | 243.31 |
| E-MTAB-8142 | yes | 116.76 |
| E-MTAB-10596 | no | 1737.90 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): AP1, CEBPB, CEBPG, CREB3L1, ETS1, FOS, HIC1, JUN, JUND, KLF5, MYC, RARA, SP1, USF1
miRNA regulators (miRDB)
16 targeting FGFBP1, 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-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-10527-5P | 99.91 | 72.28 | 3754 |
| HSA-MIR-556-3P | 99.74 | 68.75 | 1203 |
| HSA-MIR-6832-5P | 99.58 | 64.82 | 1132 |
| HSA-MIR-4762-3P | 99.43 | 69.72 | 2363 |
| HSA-MIR-149-5P | 99.25 | 67.16 | 1315 |
| HSA-MIR-4291 | 99.20 | 68.88 | 2969 |
| HSA-MIR-7109-5P | 99.18 | 66.13 | 1057 |
| HSA-MIR-548L | 99.06 | 70.90 | 2560 |
| HSA-MIR-922 | 99.02 | 67.23 | 1838 |
| HSA-MIR-6512-5P | 98.76 | 69.29 | 1195 |
| HSA-MIR-6887-5P | 98.56 | 68.49 | 1295 |
| HSA-MIR-6795-5P | 98.52 | 68.51 | 1277 |
| HSA-MIR-7703 | 97.64 | 67.00 | 965 |
| HSA-MIR-6736-3P | 96.98 | 65.22 | 1342 |
| HSA-MIR-500B-3P | 96.49 | 65.40 | 1087 |
Literature-anchored findings (GeneRIF, showing 16)
- Upregulation of FGF-BP expression after injury stimulates FGF activity at the wound site, thus enhancing the process of epithelial repair. (PMID:15806171)
- the FGF interaction domain is contained in the C terminus of FGF-BP1 (PMID:16257968)
- FGF-BP can be rate-limiting for tumor growth and serves as an angiogenic switch molecule, and that it represents an increasingly promising target molecule in anti-tumor therapy[review] (PMID:16324873)
- The upregulation of FGF-BP by regenerating renal tubular epithelial cells may provide a mechanism by which the regenerative and angiogenic activity of FGF-2 in renal capillaries can be modulated in children with HIV-HUS and other renal disease. (PMID:16352855)
- KLF5 promotes breast cell survival partially through fibroblast growth factor-binding protein 1-pERK-mediated dual specificity MKP-1 protein phosphorylation and stabilization. (PMID:19411256)
- KLF5 may promote breast cancer cell proliferation at least partially through directly activating the FGF-BP mRNA transcription. (PMID:19668233)
- Sequence variation in FGFBP1 may contribute to variation in bone mineral density, possibly influencing osteoporosis risk. (PMID:20450993)
- FGFBP1 associates with hypertension and that systematic analysis of signaling pathways can identify previously undescribed genetic associations. (PMID:21436287)
- overexpression of FGFBP1 or loss of WISP-2 expression is closely related to the metastasis, invasion and poor prognosis of gallbladder cancer. (PMID:23592278)
- Up-regulated Sox12 induced by FoxQ1 promotes hepatocellular carcinoma invasion and metastasis by transactivating Twist1 and FGFBP1 expression. (PMID:25704764)
- These findings indicate that the miR-146a-CREB3L1-FGFBP1 signaling axis plays an important role in the regulation of angiogenesis in human umbilical vein endothelial cells. (PMID:27121396)
- Genetic polymorphism in the human FGFBP1 gene was associated with higher gene expression and an increased risk of familial Hypertension. (PMID:29158353)
- The Expression and Prognostic Value of FGF2, FGFR3, and FGFBP1 in Esophageal Squamous Cell Carcinoma. (PMID:33381388)
- FGFBP1-mediated crosstalk between fibroblasts and pancreatic cancer cells via FGF22/FGFR2 promotes invasion and metastasis of pancreatic cancer. (PMID:34117747)
- Poly-L-arginine promotes asthma angiogenesis through induction of FGFBP1 in airway epithelial cells via activation of the mTORC1-STAT3 pathway. (PMID:34341336)
- HAI-1 is required for the novel role of FGFBP1 in maintenance of cell morphology and F-actin rearrangement in human keratinocytes. (PMID:37076641)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Fgfbp1 | ENSMUSG00000048373 |
| rattus_norvegicus | Fgfbp1 | ENSRNOG00000003095 |
Paralogs (2): FGFBP2 (ENSG00000137441), FGFBP3 (ENSG00000174721)
Protein
Protein identifiers
Fibroblast growth factor-binding protein 1 — Q14512 (reviewed: Q14512)
Alternative names: 17 kDa heparin-binding growth factor-binding protein
All UniProt accessions (1): Q14512
UniProt curated annotations — full annotation on UniProt →
Function. Acts as a carrier protein that release fibroblast-binding factors (FGFs) from the extracellular matrix (EM) storage and thus enhance the mitogenic activity of FGFs. Enhances FGF2 signaling during tissue repair, angiogenesis and in tumor growth.
Subunit / interactions. Found in a complex with FGFBP1, FGF1 and FGF2. Interacts with FGF1, FGF2, FGF7, FGF10, FGF22 and HSPG2.
Subcellular location. Secreted. Extracellular space. Cell membrane.
Tissue specificity. Expressed in the suprabasal region of the epidermis, in hair follicles, the basement membrane at the dermo-epidermal junction (occasionally extending into the basement membrane of dermal blood vessels), wounded skin and several invasive squamous cell carcinomas (at protein level). Expressed in normal and wounded skin and various squamous cell carcinomas.
Induction. Up-regulated in epithelial cells after skin injury. Keratinocyte mitogens.
Miscellaneous. Expression is significantly up-regulated in carcinogen-induced skin tumors, various squamous cell carcinomas, some colon cancer cell lines and tumors.
Similarity. Belongs to the fibroblast growth factor-binding protein family.
RefSeq proteins (1): NP_005121* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR010510 | FGF1-bd | Family |
Pfam: PF06473
UniProt features (12 total): disulfide bond 5, region of interest 2, signal peptide 1, chain 1, mutagenesis site 1, compositionally biased region 1, glycosylation site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q14512-F1 | 74.06 | 0.44 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Disulfide bonds (5): 214–222, 68–85, 94–127, 103–139, 197–234
Glycosylation sites (1): 169
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 214 | strongly reduces interaction with fgf2. |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-190377 | FGFR2b ligand binding and activation |
MSigDB gene sets: 165 (showing top):
GSE45365_NK_CELL_VS_CD8_TCELL_UP, MODULE_92, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, JAEGER_METASTASIS_DN, REACTOME_SIGNALING_BY_FGFR, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GOBP_CELL_MIGRATION_INVOLVED_IN_SPROUTING_ANGIOGENESIS, GOCC_CELL_SURFACE, SARRIO_EPITHELIAL_MESENCHYMAL_TRANSITION_DN, GOBP_CELL_CELL_SIGNALING, GOBP_POSITIVE_REGULATION_OF_ENDOTHELIAL_CELL_MIGRATION, BILD_HRAS_ONCOGENIC_SIGNATURE, MARTINEZ_RB1_TARGETS_UP, GOBP_BLOOD_VESSEL_ENDOTHELIAL_CELL_MIGRATION
GO Biological Process (9): signal transduction (GO:0007165), cell-cell signaling (GO:0007267), negative regulation of cell population proliferation (GO:0008285), fibroblast growth factor receptor signaling pathway (GO:0008543), positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743), myoblast proliferation (GO:0051450), positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050), positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:1903589), positive regulation of myoblast proliferation (GO:2000288)
GO Molecular Function (4): heparin binding (GO:0008201), fibroblast growth factor binding (GO:0017134), growth factor binding (GO:0019838), protein binding (GO:0005515)
GO Cellular Component (5): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), plasma membrane (GO:0005886), cell surface (GO:0009986), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| FGFR2 ligand binding and activation | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| cell communication | 2 |
| signaling | 2 |
| cell population proliferation | 2 |
| cellular process | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| regulation of cell population proliferation | 1 |
| negative regulation of cellular process | 1 |
| cell surface receptor protein tyrosine kinase signaling pathway | 1 |
| cellular response to fibroblast growth factor stimulus | 1 |
| fibroblast growth factor receptor signaling pathway | 1 |
| positive regulation of signal transduction | 1 |
| regulation of fibroblast growth factor receptor signaling pathway | 1 |
| cell migration involved in sprouting angiogenesis | 1 |
| positive regulation of blood vessel endothelial cell migration | 1 |
| regulation of cell migration involved in sprouting angiogenesis | 1 |
| positive regulation of endothelial cell proliferation | 1 |
| blood vessel endothelial cell proliferation involved in sprouting angiogenesis | 1 |
| regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis | 1 |
| positive regulation of cell population proliferation | 1 |
| myoblast proliferation | 1 |
| regulation of myoblast proliferation | 1 |
| glycosaminoglycan binding | 1 |
| sulfur compound binding | 1 |
| growth factor binding | 1 |
| protein binding | 1 |
| binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
Protein interactions and networks
STRING
912 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| FGFBP1 | FGF1 | P05230 | 991 |
| FGFBP1 | FGF7 | P21781 | 980 |
| FGFBP1 | FGF2 | P09038 | 977 |
| FGFBP1 | FGF22 | Q9HCT0 | 976 |
| FGFBP1 | FGF10 | O15520 | 974 |
| FGFBP1 | FGF13 | Q92913 | 952 |
| FGFBP1 | FGF18 | O76093 | 946 |
| FGFBP1 | FGF20 | Q9NP95 | 945 |
| FGFBP1 | FGF5 | P12034 | 945 |
| FGFBP1 | FGF16 | O43320 | 944 |
| FGFBP1 | FGF6 | P10767 | 942 |
| FGFBP1 | FGF17 | O60258 | 942 |
| FGFBP1 | FGF9 | P31371 | 941 |
| FGFBP1 | FGF3 | P11487 | 940 |
| FGFBP1 | FGF4 | P08620 | 938 |
IntAct
42 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| FGFBP1 | FGF2 | psi-mi:“MI:0407”(direct interaction) | 0.620 |
| ASPH | FGFBP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| AKT1 | FGFBP1 | psi-mi:“MI:2364”(proximity) | 0.470 |
| FGFBP1 | AKT1 | psi-mi:“MI:0915”(physical association) | 0.470 |
| FGFBP1 | H1-0 | psi-mi:“MI:0915”(physical association) | 0.400 |
| POLR3A | psi-mi:“MI:0914”(association) | 0.350 | |
| ENO1 | psi-mi:“MI:0914”(association) | 0.350 | |
| DDX3X | psi-mi:“MI:0914”(association) | 0.350 | |
| PES1 | psi-mi:“MI:0914”(association) | 0.350 | |
| HNRNPDL | psi-mi:“MI:0914”(association) | 0.350 | |
| IGF2BP3 | psi-mi:“MI:0914”(association) | 0.350 | |
| GTPBP10 | psi-mi:“MI:0914”(association) | 0.350 | |
| FGFBP1 | ZNF724 | psi-mi:“MI:0914”(association) | 0.350 |
| ESYT2 | psi-mi:“MI:0914”(association) | 0.350 | |
| FGFBP1 | psi-mi:“MI:0914”(association) | 0.350 | |
| EIF3F | psi-mi:“MI:0914”(association) | 0.350 | |
| SULF2 | IGLL5 | psi-mi:“MI:0914”(association) | 0.350 |
| FBXW7 | FGFBP1 | psi-mi:“MI:2364”(proximity) | 0.270 |
BioGRID (257): FGFBP1 (Affinity Capture-MS), ASPH (Two-hybrid), FGFBP1 (Affinity Capture-Western), FGFBP1 (Proximity Label-MS), HSPG2 (Two-hybrid), HSPG2 (Affinity Capture-Western), YTHDC2 (Affinity Capture-MS), NOC3L (Affinity Capture-MS), NOL8 (Affinity Capture-MS), PRPF4B (Affinity Capture-MS), URB1 (Affinity Capture-MS), NOC4L (Affinity Capture-MS), KNOP1 (Affinity Capture-MS), UTP3 (Affinity Capture-MS), RRP8 (Affinity Capture-MS)
ESM2 similar proteins: A0A2R8QHQ6, A0A8M9PDM1, A6PWV3, A6QL94, D3Z690, F5HC71, O02699, O12980, O77515, P04401, P05402, P0DJF3, P0DP43, P12401, P17150, P18917, P19159, P20826, P21583, P21702, P33579, P33580, P46685, P52173, P79169, Q08125, Q14512, Q28586, Q29030, Q4R6V5, Q5VZ72, Q60440, Q62575, Q6AY06, Q6P7N7, Q920I0, Q95J76, Q95MD2, Q95N18, Q9CQ58
Diamond homologs: O70514, Q14512, Q9MZ06, Q9QY10
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
42 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 34 |
| Likely benign | 7 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
409 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 4:15936649:TCAC:T | acceptor_gain | 1.0000 |
| 4:15936650:CAC:C | acceptor_gain | 1.0000 |
| 4:15936650:CACC:C | acceptor_gain | 1.0000 |
| 4:15936652:CCTGT:C | acceptor_loss | 1.0000 |
| 4:15936653:C:CC | acceptor_gain | 1.0000 |
| 4:15936653:C:CG | acceptor_loss | 1.0000 |
| 4:15936654:T:A | acceptor_loss | 1.0000 |
| 4:15936657:T:C | acceptor_gain | 1.0000 |
| 4:15936648:TTCAC:T | acceptor_gain | 0.9900 |
| 4:15936651:AC:A | acceptor_gain | 0.9900 |
| 4:15936652:CC:C | acceptor_gain | 0.9900 |
| 4:15936656:T:TC | acceptor_gain | 0.9900 |
| 4:15936661:C:CT | acceptor_gain | 0.9900 |
| 4:15936656:T:C | acceptor_gain | 0.9800 |
| 4:15936662:A:T | acceptor_gain | 0.9800 |
| 4:15936657:T:TC | acceptor_gain | 0.9700 |
| 4:15936655:G:GC | acceptor_gain | 0.9600 |
| 4:15936592:A:T | acceptor_gain | 0.9500 |
| 4:15936591:CAG:C | acceptor_gain | 0.9100 |
| 4:15938245:TCTTA:T | donor_loss | 0.8800 |
| 4:15938246:CTTAC:C | donor_loss | 0.8800 |
| 4:15938247:TTA:T | donor_loss | 0.8800 |
| 4:15938248:TA:T | donor_loss | 0.8800 |
| 4:15938249:ACCT:A | donor_loss | 0.8800 |
| 4:15938250:C:A | donor_loss | 0.8800 |
| 4:15938681:TTTTA:T | donor_loss | 0.8600 |
| 4:15938682:TTTAC:T | donor_loss | 0.8600 |
| 4:15938683:TTACC:T | donor_loss | 0.8600 |
| 4:15938684:TA:T | donor_loss | 0.8600 |
| 4:15938685:ACC:A | donor_loss | 0.8600 |
AlphaMissense
1540 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 4:15936294:C:A | W113C | 0.997 |
| 4:15936294:C:G | W113C | 0.997 |
| 4:15936346:A:C | F96C | 0.996 |
| 4:15936423:C:A | W70C | 0.996 |
| 4:15936423:C:G | W70C | 0.996 |
| 4:15936430:C:G | C68S | 0.995 |
| 4:15936431:A:T | C68S | 0.995 |
| 4:15936217:C:G | C139S | 0.994 |
| 4:15936218:A:T | C139S | 0.994 |
| 4:15936253:C:G | C127S | 0.994 |
| 4:15936254:A:T | C127S | 0.994 |
| 4:15936379:C:G | C85S | 0.994 |
| 4:15936380:A:T | C85S | 0.994 |
| 4:15936341:C:A | G98C | 0.992 |
| 4:15936325:C:G | C103S | 0.991 |
| 4:15936326:A:T | C103S | 0.991 |
| 4:15936352:C:G | C94S | 0.991 |
| 4:15936353:A:T | C94S | 0.991 |
| 4:15936454:A:C | F60C | 0.991 |
| 4:15936345:A:C | F96L | 0.989 |
| 4:15936345:A:T | F96L | 0.989 |
| 4:15936346:A:G | F96S | 0.989 |
| 4:15936347:A:G | F96L | 0.989 |
| 4:15936429:G:C | C68W | 0.989 |
| 4:15936380:A:G | C85R | 0.988 |
| 4:15936218:A:G | C139R | 0.987 |
| 4:15936352:C:T | C94Y | 0.987 |
| 4:15936425:A:G | W70R | 0.987 |
| 4:15936425:A:T | W70R | 0.987 |
| 4:15936254:A:G | C127R | 0.986 |
dbSNP variants (sampled 300 via entrez): RS1000377112 (4:15939363 T>G), RS1000895275 (4:15937499 G>A), RS1000968673 (4:15937260 G>A,C), RS1001447723 (4:15935277 C>T), RS1001663628 (4:15940377 G>A), RS1002356079 (4:15937222 A>G), RS1002431269 (4:15936920 C>T), RS1002746902 (4:15935815 C>G,T), RS1003211312 (4:15937713 A>C), RS1003796482 (4:15940518 C>T), RS1004100744 (4:15940695 C>A), RS1004446997 (4:15935258 G>A,T), RS1004908788 (4:15938689 G>A,C), RS1004972729 (4:15935490 T>G), RS1005501553 (4:15940079 G>T)
Disease associations
OMIM: gene MIM:607737 | 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 |
|---|---|---|
| GCST90026413_11 | Severe insulin-deficient type 2 diabetes | 7.000000e-07 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
2 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs2245964 | FGFBP1 | 0.00 | 0 | ||
| rs16892645 | FGFBP1 | 0.00 | 0 |
CTD chemical–gene interactions
49 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, increases expression | 4 |
| Tobacco Smoke Pollution | affects expression, decreases expression, increases expression | 3 |
| Cadmium Chloride | increases expression, decreases expression | 3 |
| bisphenol A | decreases expression | 2 |
| perfluorooctanoic acid | decreases expression, increases expression | 2 |
| chloropicrin | decreases expression | 2 |
| dimethylarsinous acid | decreases expression | 2 |
| Air Pollutants | increases expression, decreases expression, increases abundance | 2 |
| bisphenol F | decreases expression | 1 |
| propionaldehyde | increases expression | 1 |
| lead acetate | decreases expression | 1 |
| ethyl-p-hydroxybenzoate | increases expression | 1 |
| methylparaben | decreases expression | 1 |
| sulforaphane | decreases expression | 1 |
| butyraldehyde | increases expression | 1 |
| cupric chloride | decreases expression | 1 |
| perfluorodecanoic acid | decreases expression | 1 |
| epigallocatechin gallate | increases expression | 1 |
| pentanal | increases expression | 1 |
| seocalcitol | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| monomethylarsonous acid | decreases expression | 1 |
| abrine | decreases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | increases expression | 1 |
| bisphenol S | decreases expression | 1 |
| fatostatin | decreases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Zoledronic Acid | increases expression | 1 |
| Aldehydes | increases expression | 1 |
| Arsenic | affects methylation | 1 |
Cellosaurus cell lines
3 cell lines: 3 embryonic stem cell
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_A1T8 | SEES3-1V human FGFBP1, clone1 | Embryonic stem cell | Male |
| CVCL_A1T9 | SEES3-1V human FGFBP1, clone2 | Embryonic stem cell | Male |
| CVCL_A1U0 | SEES3-1V human FGFBP1, clone3 | Embryonic stem cell | Male |
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.