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Gene Gene information from NCBI Gene database.
Entrez ID 2254
Gene name Fibroblast growth factor 9
Gene symbol FGF9
Synonyms (NCBI Gene)
FGF-9GAFHBFG-9HBGF-9SYNS3
Chromosome 13
Chromosome location 13q12.11
Summary The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cel
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs121918322 G>A Pathogenic Missense variant, coding sequence variant
rs1555223925 A>G Pathogenic Genic upstream transcript variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
451 Show/Hide all (451)
miRTarBase ID miRNA Experiments Reference
MIRT006823 hsa-miR-182-5p Luciferase reporter assayWestern blot 22917588
MIRT006823 hsa-miR-182-5p Luciferase reporter assayWestern blot 22917588
MIRT007378 hsa-miR-140-5p Luciferase reporter assay 23401231
MIRT029384 hsa-miR-26b-5p Microarray 19088304
MIRT053574 hsa-miR-26a-5p ImmunohistochemistryIn situ hybridizationLuciferase reporter assayqRT-PCRWestern blot 24015269
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
FUBP3 Unknown 21252297
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
67 Show/Hide all (67)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0001525 Process Angiogenesis IEA
GO:0001649 Process Osteoblast differentiation IEA
GO:0001654 Process Eye development IEA
GO:0002053 Process Positive regulation of mesenchymal cell proliferation IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600921 3687 ENSG00000102678
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P31371
Protein name Fibroblast growth factor 9 (FGF-9) (Glia-activating factor) (GAF) (Heparin-binding growth factor 9) (HBGF-9)
Protein function 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
PDB 1G82 , 1IHK , 5W59
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00167 FGF 62 → 188 Fibroblast growth factor Domain
Tissue specificity TISSUE SPECIFICITY: Glial cells.
Sequence
Sequence length 208
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
MAPK signaling pathway PI3K Cascade
Ras signaling pathway PIP3 activates AKT signaling
Rap1 signaling pathway Signaling by activated point mutants of FGFR1
Calcium signaling pathway Signaling by activated point mutants of FGFR3
PI3K-Akt signaling pathway FGFR4 ligand binding and activation
Regulation of actin cytoskeleton FGFR3b ligand binding and activation
Pathways in cancer FGFR3c ligand binding and activation
Chemical carcinogenesis - receptor activation FGFR1c ligand binding and activation
Melanoma FGFR2c ligand binding and activation
Breast cancer FGFR3 mutant receptor activation
Gastric cancer Activated point mutants of FGFR2
  Constitutive Signaling by Aberrant PI3K in Cancer
  Phospholipase C-mediated cascade: FGFR1
  Phospholipase C-mediated cascade; FGFR2
  Phospholipase C-mediated cascade; FGFR3
  Phospholipase C-mediated cascade; FGFR4
  Downstream signaling of activated FGFR1
  SHC-mediated cascade:FGFR1
  PI-3K cascade:FGFR1
  FRS-mediated FGFR1 signaling
  PI-3K cascade:FGFR2
  SHC-mediated cascade:FGFR2
  FRS-mediated FGFR2 signaling
  SHC-mediated cascade:FGFR3
  FRS-mediated FGFR3 signaling
  PI-3K cascade:FGFR3
  FRS-mediated FGFR4 signaling
  SHC-mediated cascade:FGFR4
  PI-3K cascade:FGFR4
  Negative regulation of FGFR1 signaling
  Negative regulation of FGFR2 signaling
  Negative regulation of FGFR3 signaling
  Negative regulation of FGFR4 signaling
  Signaling by FGFR2 in disease
  Signaling by FGFR1 in disease
  RAF/MAP kinase cascade
  PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
  Signaling by FGFR3 point mutants in cancer
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
20
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Multiple synostoses syndrome 3 Likely pathogenic; Pathogenic rs2542485459, rs121918322, rs2542511852, rs1555223925 RCV002471381
RCV000009242
RCV003223356
RCV000513493
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (19)
Phenotype Name Clinical Significance Source Reference Evidence Score
CARCINOMA, NON-SMALL-CELL LUNG — CTD 19358281
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE — GWAS catalog 30595370
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CLEFT LIP — CTD 17963255
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CLEFT PALATE — CTD, Disgenet
CTD, Disgenet
17963255
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CLEFT UPPER LIP — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (145)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acquired cubitus valgus Cubitus valgus HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 19358281, 29656749, 31090071
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma CTD_human_DG 20464547
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 16002475, 19358281, 23867472, 29656749, 31090071
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Basal Cell Adenocarcinoma CTD_human_DG 20464547
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Endometrioid Endometrial Cancer BEFREE 16452189
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Oxyphilic Adenocarcinoma CTD_human_DG 20464547
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Tubular Adenocarcinoma CTD_human_DG 20464547
★★★★★
★☆☆☆☆
Found in Text Mining only
Anaplasia Anaplasia BEFREE 28259995, 31220553
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder BEFREE 26351673
★★★★★
★☆☆☆☆
Found in Text Mining only