Gene: FGF2

Basic information

Tag Content
Uniprot ID P09038; A4LBB8; O00527; P78443; Q16443; Q5PY50; Q7KZ11; Q7KZ72; Q9UC54; Q9UCS5; Q9UCS6;
Entrez ID 2247
Genbank protein ID CAA28029.1; AAB21432.2; AAD13853.1; CAA28028.1; CAA73868.1; AAA52448.1; EAX05222.1; AAA52534.1; AAA52532.1; AAA52533.1; CAA28027.1; BAG70135.1; BAG70264.1; AAV70487.1; AAA52531.1; ABO43041.1;
Genbank nucleotide ID NM_002006.4
Ensembl protein ID ENSP00000494222; ENSP00000477134; ENSP00000478620;
Ensembl nucleotide ID ENSG00000138685
Gene name Fibroblast growth factor 2
Gene symbol FGF2
Organism Homo sapiens
NCBI taxa ID 9606
Cleft type
Developmental stage
Data sources Manually collected
Reference 14755461
Functional description Acts as a ligand for FGFR1, FGFR2, FGFR3 and FGFR4 (PubMed:8663044). Also acts as an integrin ligand which is required for FGF2 signaling (PubMed:28302677). Binds to integrin ITGAV:ITGB3 (PubMed:28302677). Plays an important role in the regulation of cell survival, cell division, cell differentiation and cell migration (PubMed:8663044, PubMed:28302677). Functions as a potent mitogen in vitro (PubMed:1721615, PubMed:3964259, PubMed:3732516). Can induce angiogenesis (PubMed:23469107, PubMed:28302677). Mediates phosphorylation of ERK1/2 and thereby promotes retinal lens fiber differentiation (PubMed:29501879).
Sequence
MVGVGGGDVE DVTPRPGGCQ ISGRGARGCN GIPGAAAWEA ALPRRRPRRH PSVNPRSRAA 60
GSPRTRGRRT EERPSGSRLG DRGRGRALPG GRLGGRGRGR APERVGGRGR GRGTAAPRAA 120
PAARGSRPGP AGTMAAGSIT TLPALPEDGG SGAFPPGHFK DPKRLYCKNG GFFLRIHPDG 180
RVDGVREKSD PHIKLQLQAE ERGVVSIKGV CANRYLAMKE DGRLLASKCV TDECFFFERL 240
ESNNYNTYRS RKYTSWYVAL KRTGQYKLGS KTGPGQKAIL FLPMSAKS 288

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

  

Gene expression in different tissues (ENCODE)

  

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

There is no orthologous record for this gene !

Identified variants/mutations related to cleft phenotype

Gene symbol Significant Variants/SNPS Methods PubMed ID
FGF2rs11737764C>TGenotyping 21462296
FGF2rs308434C>TGenotyping 21462296
FGF2rs308441C>TGenotyping 21462296

Other genetic variants/mutations

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Disease or phenotype associated information

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0005104 fibroblast growth factor receptor bindingIPI
GO:0005125 cytokine activityIDA
GO:0005178 integrin bindingIDA
GO:0005515 protein bindingIPI
GO:0008083 growth factor activityIDA
GO:0008201 heparin bindingIEA
GO:0019956 chemokine bindingIPI
GO:0030374 nuclear receptor transcription coactivator activityIDA
GO:0042056 chemoattractant activityIDA
GO:0042802 identical protein bindingIPI
GO:0090722 receptor-receptor interactionIDA

GO:Biological Process

GO ID GO Term Evidence
GO:0000165 MAPK cascadeTAS
GO:0000187 activation of MAPK activityTAS
GO:0001658 branching involved in ureteric bud morphogenesisIDA
GO:0001938 positive regulation of endothelial cell proliferationIDA
GO:0001938 positive regulation of endothelial cell proliferationIMP
GO:0002042 cell migration involved in sprouting angiogenesisIDA
GO:0002042 cell migration involved in sprouting angiogenesisIGI
GO:0006661 phosphatidylinositol biosynthetic processIDA
GO:0006935 chemotaxisTAS
GO:0007165 signal transductionNAS
GO:0007265 Ras protein signal transductionTAS
GO:0007399 nervous system developmentTAS
GO:0008284 positive regulation of cell population proliferationIDA
GO:0008284 positive regulation of cell population proliferationIGI
GO:0008543 fibroblast growth factor receptor signaling pathwayIPI
GO:0008543 fibroblast growth factor receptor signaling pathwayIDA
GO:0008543 fibroblast growth factor receptor signaling pathwayIGI
GO:0008543 fibroblast growth factor receptor signaling pathwayTAS
GO:0009887 animal organ morphogenesisTAS
GO:0010764 negative regulation of fibroblast migrationIDA
GO:0010863 positive regulation of phospholipase C activityIDA
GO:0014843 growth factor dependent regulation of skeletal muscle satellite cell proliferationIMP
GO:0019221 cytokine-mediated signaling pathwayTAS
GO:0030198 extracellular matrix organizationTAS
GO:0030214 hyaluronan catabolic processIDA
GO:0032958 inositol phosphate biosynthetic processIDA
GO:0035019 somatic stem cell population maintenanceTAS
GO:0038001 paracrine signalingISS
GO:0042060 wound healingIDA
GO:0042060 wound healingTAS
GO:0042660 positive regulation of cell fate specificationIDA
GO:0043406 positive regulation of MAP kinase activityIDA
GO:0043536 positive regulation of blood vessel endothelial cell migrationIDA
GO:0043536 positive regulation of blood vessel endothelial cell migrationIGI
GO:0043537 negative regulation of blood vessel endothelial cell migrationIDA
GO:0043552 positive regulation of phosphatidylinositol 3-kinase activityIDA
GO:0045765 regulation of angiogenesisTAS
GO:0045766 positive regulation of angiogenesisIDA
GO:0045766 positive regulation of angiogenesisIGI
GO:0045893 positive regulation of transcription, DNA-templatedIDA
GO:0045944 positive regulation of transcription by RNA polymerase IIIDA
GO:0048598 embryonic morphogenesisTAS
GO:0050918 positive chemotaxisIEA
GO:0051209 release of sequestered calcium ion into cytosolIDA
GO:0051781 positive regulation of cell divisionIEA
GO:0051897 positive regulation of protein kinase B signalingTAS
GO:0060045 positive regulation of cardiac muscle cell proliferationIDA
GO:0060548 negative regulation of cell deathIDA
GO:0060591 chondroblast differentiationIDA
GO:0061045 negative regulation of wound healingIDA
GO:0070374 positive regulation of ERK1 and ERK2 cascadeIDA
GO:0072089 stem cell proliferationNAS
GO:0090050 positive regulation of cell migration involved in sprouting angiogenesisIDA
GO:1903672 positive regulation of sprouting angiogenesisIDA
GO:1903672 positive regulation of sprouting angiogenesisIMP
GO:1904707 positive regulation of vascular smooth muscle cell proliferationIGI
GO:1905564 positive regulation of vascular endothelial cell proliferationIGI
GO:2000544 regulation of endothelial cell chemotaxis to fibroblast growth factorIDA
GO:2000546 positive regulation of endothelial cell chemotaxis to fibroblast growth factorIDA
GO:2000573 positive regulation of DNA biosynthetic processIDA
GO:2000573 positive regulation of DNA biosynthetic processIGI
GO:2001028 positive regulation of endothelial cell chemotaxisIGI

GO:Cellular Component

GO ID GO Term Evidence
GO:0005576 extracellular regionTAS
GO:0005615 extracellular spaceIDA
GO:0005623 cellIEA
GO:0005634 nucleusIEA

Reactome Pathway

Reactome ID Reactome Term Evidence
R-HSA-109704 PI3K CascadeTAS
R-HSA-112399 IRS-mediated signallingTAS
R-HSA-1226099 Signaling by FGFR in diseaseTAS
R-HSA-1226099 Signaling by FGFR in diseaseIEA
R-HSA-1257604 PIP3 activates AKT signalingTAS
R-HSA-1266738 Developmental BiologyTAS
R-HSA-1280215 Cytokine Signaling in Immune systemTAS
R-HSA-1474244 Extracellular matrix organizationTAS
R-HSA-162582 Signal TransductionTAS
R-HSA-1643685 DiseaseTAS
R-HSA-1643685 DiseaseIEA
R-HSA-168256 Immune SystemTAS
R-HSA-1839122 Signaling by activated point mutants of FGFR1TAS
R-HSA-1839124 FGFR1 mutant receptor activationTAS
R-HSA-1839126 FGFR2 mutant receptor activationTAS
R-HSA-1839126 FGFR2 mutant receptor activationIEA
R-HSA-1839130 Signaling by activated point mutants of FGFR3TAS
R-HSA-190236 Signaling by FGFRTAS
R-HSA-190239 FGFR3 ligand binding and activationTAS
R-HSA-190241 FGFR2 ligand binding and activationTAS
R-HSA-190242 FGFR1 ligand binding and activationTAS
R-HSA-190322 FGFR4 ligand binding and activationTAS
R-HSA-190370 FGFR1b ligand binding and activationTAS
R-HSA-190372 FGFR3c ligand binding and activationTAS
R-HSA-190373 FGFR1c ligand binding and activationTAS
R-HSA-190375 FGFR2c ligand binding and activationTAS
R-HSA-190377 FGFR2b ligand binding and activationTAS
R-HSA-199418 Negative regulation of the PI3K/AKT networkTAS
R-HSA-2033514 FGFR3 mutant receptor activationTAS
R-HSA-2033519 Activated point mutants of FGFR2TAS
R-HSA-2219528 PI3K/AKT Signaling in CancerTAS
R-HSA-2219530 Constitutive Signaling by Aberrant PI3K in CancerTAS
R-HSA-2404192 Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)TAS
R-HSA-2428924 IGF1R signaling cascadeTAS
R-HSA-2428928 IRS-related events triggered by IGF1RTAS
R-HSA-2892247 POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferationTAS
R-HSA-3000170 Syndecan interactionsTAS
R-HSA-3000171 Non-integrin membrane-ECM interactionsTAS
R-HSA-449147 Signaling by InterleukinsTAS
R-HSA-452723 Transcriptional regulation of pluripotent stem cellsTAS
R-HSA-5654219 Phospholipase C-mediated cascade: FGFR1TAS
R-HSA-5654221 Phospholipase C-mediated cascade; FGFR2TAS
R-HSA-5654227 Phospholipase C-mediated cascade; FGFR3TAS
R-HSA-5654228 Phospholipase C-mediated cascade; FGFR4TAS
R-HSA-5654687 Downstream signaling of activated FGFR1TAS
R-HSA-5654688 SHC-mediated cascade:FGFR1TAS
R-HSA-5654689 PI-3K cascade:FGFR1TAS
R-HSA-5654693 FRS-mediated FGFR1 signalingTAS
R-HSA-5654695 PI-3K cascade:FGFR2TAS
R-HSA-5654696 Downstream signaling of activated FGFR2TAS
R-HSA-5654699 SHC-mediated cascade:FGFR2TAS
R-HSA-5654700 FRS-mediated FGFR2 signalingTAS
R-HSA-5654704 SHC-mediated cascade:FGFR3TAS
R-HSA-5654706 FRS-mediated FGFR3 signalingTAS
R-HSA-5654708 Downstream signaling of activated FGFR3TAS
R-HSA-5654710 PI-3K cascade:FGFR3TAS
R-HSA-5654712 FRS-mediated FGFR4 signalingTAS
R-HSA-5654716 Downstream signaling of activated FGFR4TAS
R-HSA-5654719 SHC-mediated cascade:FGFR4TAS
R-HSA-5654720 PI-3K cascade:FGFR4TAS
R-HSA-5654726 Negative regulation of FGFR1 signalingTAS
R-HSA-5654727 Negative regulation of FGFR2 signalingTAS
R-HSA-5654732 Negative regulation of FGFR3 signalingTAS
R-HSA-5654733 Negative regulation of FGFR4 signalingTAS
R-HSA-5654736 Signaling by FGFR1TAS
R-HSA-5654738 Signaling by FGFR2TAS
R-HSA-5654741 Signaling by FGFR3TAS
R-HSA-5654743 Signaling by FGFR4TAS
R-HSA-5655253 Signaling by FGFR2 in diseaseTAS
R-HSA-5655253 Signaling by FGFR2 in diseaseIEA
R-HSA-5655302 Signaling by FGFR1 in diseaseTAS
R-HSA-5655332 Signaling by FGFR3 in diseaseTAS
R-HSA-5658623 FGFRL1 modulation of FGFR1 signalingTAS
R-HSA-5663202 Diseases of signal transductionTAS
R-HSA-5663202 Diseases of signal transductionIEA
R-HSA-5673001 RAF/MAP kinase cascadeTAS
R-HSA-5683057 MAPK family signaling cascadesTAS
R-HSA-5684996 MAPK1/MAPK3 signalingTAS
R-HSA-6785807 Interleukin-4 and Interleukin-13 signalingTAS
R-HSA-6811558 PI5P, PP2A and IER3 Regulate PI3K/AKT SignalingTAS
R-HSA-74751 Insulin receptor signalling cascadeTAS
R-HSA-74752 Signaling by Insulin receptorTAS
R-HSA-8851708 Signaling by FGFR2 IIIa TMIEA
R-HSA-8853338 Signaling by FGFR3 point mutants in cancerTAS
R-HSA-9006925 Intracellular signaling by second messengersTAS
R-HSA-9006934 Signaling by Receptor Tyrosine KinasesTAS
R-HSA-9607240 FLT3 SignalingTAS

Drugs and compounds information

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Functional annotations

Keywords

Keyword ID Keyword Term
KW-0002 3D-structure
KW-0024 Alternative initiation
KW-0037 Angiogenesis
KW-0217 Developmental protein
KW-0221 Differentiation
KW-0903 Direct protein sequencing
KW-0339 Growth factor
KW-0358 Heparin-binding
KW-1017 Isopeptide bond
KW-0488 Methylation
KW-0497 Mitogen
KW-0539 Nucleus
KW-0597 Phosphoprotein
KW-1185 Reference proteome
KW-0964 Secreted
KW-0832 Ubl conjugation

Interpro

InterPro ID InterPro Term
IPR028223 FGF2
IPR002209 Fibroblast_GF_fam
IPR008996 IL1/FGF

PROSITE

PROSITE ID PROSITE Term
PS00247 HBGF_FGF

Pfam

Pfam ID Pfam Term
PF00167 FGF

Protein-protein interaction

Protein-miRNA interaction