Gene: FGF9

Basic information

Tag Content
Uniprot ID P31371; A8K427; Q3SY32;
Entrez ID 2254
Genbank protein ID AAI03979.1; BAA03572.1; AAI03980.1; AAT74624.1; EAX08316.1; BAF83481.1; AAH69692.1;
Genbank nucleotide ID NM_002010.2
Ensembl protein ID ENSP00000371790
Ensembl nucleotide ID ENSG00000102678
Gene name Fibroblast growth factor 9
Gene symbol FGF9
Organism Homo sapiens
NCBI taxa ID 9606
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description Plays an important role in the regulation of embryonic development, cell proliferation, cell differentiation and cell migration. May have a role in glial cell growth and differentiation during development, gliosis during repair and regeneration of brain tissue after damage, differentiation and survival of neuronal cells, and growth stimulation of glial tumors.
Sequence
MAPLGEVGNY FGVQDAVPFG NVPVLPVDSP VLLSDHLGQS EAGGLPRGPA VTDLDHLKGI 60
LRRRQLYCRT GFHLEIFPNG TIQGTRKDHS RFGILEFISI AVGLVSIRGV DSGLYLGMNE 120
KGELYGSEKL TQECVFREQF EENWYNTYSS NLYKHVDTGR RYYVALNKDG TPREGTRTKR 180
HQKFTHFLPR PVDPDKVPEL YKDILSQS 208

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

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologFGF9477340J9P0B3Canis lupus familiarisPredictionMore>>
1:1 orthologFGF9102169602A0A452FF06Capra hircusPredictionMore>>
1:1 orthologFGF9100050353F7B6A2Equus caballusPredictionMore>>
1:1 orthologFGF92254P31371Homo sapiensPredictionMore>>
1:1 orthologFgf914180P54130CPOE14.5, E16.5Mus musculusPublicationMore>>
1:1 orthologFGF9744731H2Q7A1Pan troglodytesPredictionMore>>
1:1 orthologFGF9396717Q95L12Sus scrofaPredictionMore>>
1:1 orthologFGF9100355861G1SDY3Oryctolagus cuniculusPredictionMore>>
1:1 orthologFgf925444P36364Rattus norvegicusPredictionMore>>
1:1 orthologfgf20b564770Q2LJ24Danio rerioPredictionMore>>

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 bindingIEA
GO:0008083 growth factor activityIEA
GO:0008201 heparin bindingIEA

GO:Biological Process

GO ID GO Term Evidence
GO:0000122 negative regulation of transcription by RNA polymerase IIIEA
GO:0000165 MAPK cascadeTAS
GO:0001525 angiogenesisIEA
GO:0001649 osteoblast differentiationIEA
GO:0001654 eye developmentIEA
GO:0002053 positive regulation of mesenchymal cell proliferationIEA
GO:0002062 chondrocyte differentiationIEA
GO:0006606 protein import into nucleusIEA
GO:0007165 signal transductionTAS
GO:0007267 cell-cell signalingIEA
GO:0008284 positive regulation of cell population proliferationIDA
GO:0008543 fibroblast growth factor receptor signaling pathwayIGI
GO:0008543 fibroblast growth factor receptor signaling pathwayTAS
GO:0008584 male gonad developmentIEP
GO:0010628 positive regulation of gene expressionIEA
GO:0021762 substantia nigra developmentHEP
GO:0030178 negative regulation of Wnt signaling pathwayIEA
GO:0030238 male sex determinationIEA
GO:0030326 embryonic limb morphogenesisIEA
GO:0030949 positive regulation of vascular endothelial growth factor receptor signaling pathwayIEA
GO:0032927 positive regulation of activin receptor signaling pathwayIEA
GO:0042472 inner ear morphogenesisIEA
GO:0043410 positive regulation of MAPK cascadeIEA
GO:0045880 positive regulation of smoothened signaling pathwayIEA
GO:0048505 regulation of timing of cell differentiationIEA
GO:0048566 embryonic digestive tract developmentIEA
GO:0048706 embryonic skeletal system developmentIEA
GO:0050679 positive regulation of epithelial cell proliferationIEA
GO:0051781 positive regulation of cell divisionIEA
GO:0051897 positive regulation of protein kinase B signalingTAS
GO:0060045 positive regulation of cardiac muscle cell proliferationIEA
GO:0060484 lung-associated mesenchyme developmentIEA
GO:0090263 positive regulation of canonical Wnt signaling pathwayIEA
GO:1904707 positive regulation of vascular smooth muscle cell proliferationISS
GO:1904707 positive regulation of vascular smooth muscle cell proliferationIGI
GO:1904754 positive regulation of vascular associated smooth muscle cell migrationISS
GO:1905931 negative regulation of vascular smooth muscle cell differentiation involved in phenotypic switchingISS

GO:Cellular Component

GO ID GO Term Evidence
GO:0005576 extracellular regionTAS
GO:0005604 basement membraneIEA
GO:0005615 extracellular spaceIDA
GO:0005737 cytoplasmIEA

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-1257604 PIP3 activates AKT signalingTAS
R-HSA-1280215 Cytokine Signaling in Immune systemTAS
R-HSA-162582 Signal TransductionTAS
R-HSA-1643685 DiseaseTAS
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-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-190371 FGFR3b 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-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-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-5655302 Signaling by FGFR1 in diseaseTAS
R-HSA-5655332 Signaling by FGFR3 in diseaseTAS
R-HSA-5663202 Diseases of signal transductionTAS
R-HSA-5673001 RAF/MAP kinase cascadeTAS
R-HSA-5683057 MAPK family signaling cascadesTAS
R-HSA-5684996 MAPK1/MAPK3 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-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-0209 Deafness
KW-0217 Developmental protein
KW-0221 Differentiation
KW-0903 Direct protein sequencing
KW-0225 Disease mutation
KW-0325 Glycoprotein
KW-0339 Growth factor
KW-0358 Heparin-binding
KW-0497 Mitogen
KW-0621 Polymorphism
KW-1185 Reference proteome
KW-0964 Secreted

Interpro

InterPro ID InterPro Term
IPR028251 FGF9
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