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, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein was isolated as a secreted factor that exhibi... See more...

Aliases for FGF9 Gene

Aliases for FGF9 Gene

  • Fibroblast Growth Factor 9 2 3 4 5
  • Fibroblast Growth Factor 9 (Glia-Activating Factor) 2 3
  • Heparin-Binding Growth Factor 9 3 4
  • Glia-Activating Factor 2 4
  • HBGF-9 3 4
  • FGF-9 3 4
  • GAF 3 4
  • HBFG-9 3
  • SYNS3 3
  • FGF9 5

External Ids for FGF9 Gene

Previous GeneCards Identifiers for FGF9 Gene

  • GC13P020225
  • GC13P016225
  • GC13P021175
  • GC13P020044
  • GC13P020045
  • GC13P021144
  • GC13P022245
  • GC13P003046

Summaries for FGF9 Gene

Entrez Gene Summary for FGF9 Gene

  • 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, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein was isolated as a secreted factor that exhibits a growth-stimulating effect on cultured glial cells. In nervous system, this protein is produced mainly by neurons and may be important for glial cell development. Expression of the mouse homolog of this gene was found to be dependent on Sonic hedgehog (Shh) signaling. Mice lacking the homolog gene displayed a male-to-female sex reversal phenotype, which suggested a role in testicular embryogenesis. [provided by RefSeq, Jul 2008]

GeneCards Summary for FGF9 Gene

FGF9 (Fibroblast Growth Factor 9) is a Protein Coding gene. Diseases associated with FGF9 include Multiple Synostoses Syndrome 3 and Multiple Synostoses Syndrome. Among its related pathways are RET signaling and Signaling by FGFR2 in disease. Gene Ontology (GO) annotations related to this gene include growth factor activity and fibroblast growth factor receptor binding. An important paralog of this gene is FGF20.

UniProtKB/Swiss-Prot Summary for FGF9 Gene

  • 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.

Gene Wiki entry for FGF9 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FGF9 Gene

Genomics for FGF9 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FGF9 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH13J021668 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 603.3 +2.0 2045 8.9 SP1 CTCF PRDM10 ZNF629 KDM1A ZNF692 BACH1 LARP7 PRDM1 ZNF143 FGF9 SKA3 lnc-MICU2-1 HSALNG0095624
GH13J021635 Enhancer 0.9 Ensembl ENCODE 11.5 -33.6 -33605 3.6 CTCF PRDM10 JUND REST RAD21 TRIM22 ZNF600 SCRT2 ZBTB20 UBTF FGF9 MICU2 piR-32214-130 lnc-MICU2-1
GH13J021701 Enhancer 0.3 Ensembl 11.6 +30.5 30528 0.4 ZSCAN4 MAFK FGF9 lnc-FGF9-4 HSALNG0095624
GH13J021630 Enhancer 0.2 Ensembl 11.5 -40.2 -40172 0.2 RPS7P10 FGF9 piR-32214-130 MICU2
GH13J021682 Enhancer 0.7 Ensembl ENCODE 0.4 +12.2 12235 1.3 PRDM10 ZNF629 ZIC2 FOS BHLHE40 ZNF366 ZNF660 SP7 HSALNG0095624 FGF9 lnc-FGF9-4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FGF9 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FGF9

Top Transcription factor binding sites by QIAGEN in the FGF9 gene promoter:
  • c-Myc
  • E47
  • HNF-4alpha1
  • Max1
  • Nkx2-5
  • Pax-5
  • POU2F1
  • POU2F1a
  • Tal-1

Genomic Locations for FGF9 Gene

Genomic Locations for FGF9 Gene
chr13:21,671,073-21,704,501
(GRCh38/hg38)
Size:
33,429 bases
Orientation:
Plus strand
chr13:22,245,215-22,278,640
(GRCh37/hg19)
Size:
33,426 bases
Orientation:
Plus strand

Genomic View for FGF9 Gene

Genes around FGF9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FGF9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FGF9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FGF9 Gene

Proteins for FGF9 Gene

  • Protein details for FGF9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P31371-FGF9_HUMAN
    Recommended name:
    Fibroblast growth factor 9
    Protein Accession:
    P31371
    Secondary Accessions:
    • A8K427
    • Q3SY32

    Protein attributes for FGF9 Gene

    Size:
    208 amino acids
    Molecular mass:
    23441 Da
    Quaternary structure:
    • Monomer. Homodimer. Interacts with FGFR1, FGFR2, FGFR3 and FGFR4. Affinity between fibroblast growth factors (FGFs) and their receptors is increased by heparan sulfate glycosaminoglycans that function as coreceptors.
    Miscellaneous:
    • Biochemical analysis of the Asn-99 mutation reveals a significantly impaired FGF signaling, as evidenced by diminished activity of the MAPK1/MAPK2 pathway and decreases CTNNB1 and MYC expression when compared with wild-type protein. Binding of mutant protein to the receptor FGFR3 is severely impaired, although homodimerization of mutant to itself or wild-type is not detectably affected, providing a basis for the observed defective FGF9 signaling.

    Three dimensional structures from OCA and Proteopedia for FGF9 Gene

neXtProt entry for FGF9 Gene

Post-translational modifications for FGF9 Gene

  • Three molecular species were found (30 kDa, 29 kDa and 25 kDa), cleaved at Leu-4, Val-13 and Ser-34 respectively. The smaller ones might be products of proteolytic digestion. Furthermore, there may be a functional signal sequence in the 30 kDa species which is uncleavable in the secretion step.
  • N-glycosylated.
  • Glycosylation at Asn79
  • Modification sites at PhosphoSitePlus

Other Protein References for FGF9 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for FGF9

No data available for DME Specific Peptides for FGF9 Gene

Domains & Families for FGF9 Gene

Gene Families for FGF9 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for FGF9 Gene

InterPro:
Blocks:
  • Heparin binding growth factor family signature
  • IL1/HBGF family signature
ProtoNet:

Suggested Antigen Peptide Sequences for FGF9 Gene

GenScript: Design optimal peptide antigens:
  • Heparin-binding growth factor 9 (FGF9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P31371

UniProtKB/Swiss-Prot:

FGF9_HUMAN :
  • Belongs to the heparin-binding growth factors family.
Family:
  • Belongs to the heparin-binding growth factors family.
genes like me logo Genes that share domains with FGF9: view

Function for FGF9 Gene

Molecular function for FGF9 Gene

UniProtKB/Swiss-Prot 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 of brain tissue after damage, differentiation and survival of neuronal cells, and growth stimulation of glial tumors.
GENATLAS Biochemistry:
fibroblast growth factor 9

LifeMap Function Summary for FGF9 Gene

Phenotypes From GWAS Catalog for FGF9 Gene

Gene Ontology (GO) - Molecular Function for FGF9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005104 fibroblast growth factor receptor binding IEA --
GO:0008083 growth factor activity TAS,IEA --
GO:0008201 heparin binding IEA --
genes like me logo Genes that share ontologies with FGF9: view
genes like me logo Genes that share phenotypes with FGF9: view

Human Phenotype Ontology for FGF9 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FGF9 Gene

MGI Knock Outs for FGF9:
  • Fgf9 Fgf9<tm1.2Fwan>
  • Fgf9 Fgf9<tm1Dor>
  • Fgf9 Fgf9<tm1b(KOMP)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FGF9

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for FGF9 Gene

Localization for FGF9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FGF9 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FGF9 gene
Compartment Confidence
extracellular 5
plasma membrane 2
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for FGF9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005604 basement membrane IEA --
GO:0005615 extracellular space IDA 8321227
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with FGF9: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FGF9 Gene

Pathways & Interactions for FGF9 Gene

PathCards logo

SuperPathways for FGF9 Gene

SuperPathway Contained pathways
1 RET signaling
2 Downstream signaling of activated FGFR2
3 Negative regulation of FGFR3 signaling
4 GAB1 signalosome
5 Signaling by activated point mutants of FGFR3
genes like me logo Genes that share pathways with FGF9: view

Pathways by source for FGF9 Gene

1 GeneGo (Thomson Reuters) pathway for FGF9 Gene
  • Development FGF-family signaling
5 Qiagen pathways for FGF9 Gene
  • FGF Pathway
  • P2Y Receptor Signaling
  • Regulation of eIF4 and p70S6K
  • RhoGDI Pathway
  • SOCS Pathway

SIGNOR curated interactions for FGF9 Gene

Activates:

Gene Ontology (GO) - Biological Process for FGF9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA --
GO:0000165 MAPK cascade TAS --
GO:0001525 angiogenesis IEA --
GO:0001649 osteoblast differentiation IEA --
GO:0001654 eye development IEA --
genes like me logo Genes that share ontologies with FGF9: view

Drugs & Compounds for FGF9 Gene

(5) Drugs for FGF9 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for FGF9 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with FGF9: view

Transcripts for FGF9 Gene

mRNA/cDNA for FGF9 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FGF9

Alternative Splicing Database (ASD) splice patterns (SP) for FGF9 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b
SP1: -
SP2:

Relevant External Links for FGF9 Gene

GeneLoc Exon Structure for
FGF9

Expression for FGF9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FGF9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FGF9 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x7.8) and Brain - Cerebellum (x6.7).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FGF9

SOURCE GeneReport for Unigene cluster for FGF9 Gene:

Hs.111

mRNA Expression by UniProt/SwissProt for FGF9 Gene:

P31371-FGF9_HUMAN
Tissue specificity: Glial cells.

Evidence on tissue expression from TISSUES for FGF9 Gene

  • Kidney(4.5)
  • Nervous system(2.8)
  • Lung(2.5)
  • Intestine(2.4)
  • Heart(2.3)
  • Muscle(2.3)
  • Liver(2.3)
  • Skin(2.1)
  • Adrenal gland(2.1)
  • Thyroid gland(2.1)
  • Pancreas(2.1)
  • Stomach(2.1)
  • Lymph node(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FGF9 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cheek
  • cranial nerve
  • ear
  • eye
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • nose
  • outer ear
  • skull
Thorax:
  • chest wall
  • clavicle
  • rib
  • rib cage
  • sternum
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with FGF9: view

No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for FGF9 Gene

Orthologs for FGF9 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FGF9 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FGF9 30 31
  • 100 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia FGF9 30 31
  • 97.12 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia FGF9 31
  • 96 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia FGF9 31
  • 94 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Fgf9 30
  • 93.75 (n)
Mouse
(Mus musculus)
Mammalia Fgf9 30 17 31
  • 92.47 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FGF9 30 31
  • 90.22 (n)
OneToOne
Chicken
(Gallus gallus)
Aves FGF9 30 31
  • 89.1 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia FGF9 31
  • 93 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia fgf9 30
  • 84.78 (n)
African clawed frog
(Xenopus laevis)
Amphibia fgf9-A 30
Sea Squirt
(Ciona savignyi)
Ascidiacea CS-FGF9/16/20 31
  • 25 (a)
OneToMany
Species where no ortholog for FGF9 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for FGF9 Gene

ENSEMBL:
Gene Tree for FGF9 (if available)
TreeFam:
Gene Tree for FGF9 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FGF9: view image

Paralogs for FGF9 Gene

(15) SIMAP similar genes for FGF9 Gene using alignment to 1 proteins:

  • FGF9_HUMAN
genes like me logo Genes that share paralogs with FGF9: view

Variants for FGF9 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FGF9 Gene

SNP ID Clinical significance and condition Chr 13 pos Variation AA Info Type
746291 Benign: not provided 21,671,954(+) G/C MISSENSE_VARIANT
778450 Likely Benign: not provided 21,681,044(+) A/G MISSENSE_VARIANT
881303 Uncertain Significance: Multiple synostoses syndrome 3 21,701,472(+) A/T THREE_PRIME_UTR_VARIANT
881304 Uncertain Significance: Multiple synostoses syndrome 3 21,701,556(+) A/C THREE_PRIME_UTR_VARIANT
881305 Uncertain Significance: Multiple synostoses syndrome 3 21,701,709(+) A/G THREE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for FGF9 Gene

Structural Variations from Database of Genomic Variants (DGV) for FGF9 Gene

Variant ID Type Subtype PubMed ID
esv3396861 CNV duplication 20981092
nsv1071085 CNV deletion 25765185
nsv1078303 OTHER inversion 25765185
nsv1140246 OTHER inversion 24896259
nsv1151909 OTHER inversion 26484159
nsv509497 CNV insertion 20534489
nsv832560 CNV loss 17160897

Variation tolerance for FGF9 Gene

Residual Variation Intolerance Score: 39.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.80; 16.89% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FGF9 Gene

Human Gene Mutation Database (HGMD)
FGF9
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FGF9

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FGF9 Gene

Disorders for FGF9 Gene

MalaCards: The human disease database

(25) MalaCards diseases for FGF9 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
multiple synostoses syndrome 3
  • syns3
multiple synostoses syndrome
  • symphalangism-brachydactyly syndrome
pleuropulmonary blastoma
  • ppb
apert syndrome
  • acrocephalosyndactyly, type i; acs1
craniosynostosis
  • craniostenosis
- elite association - COSMIC cancer census association via MalaCards
Search FGF9 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FGF9_HUMAN
  • Multiple synostoses syndrome 3 (SYNS3) [MIM:612961]: A bone disease characterized by multiple progressive joint fusions that commonly involve proximal interphalangeal, tarsal-carpal, humeroradial and cervical spine joints. Additional features can include progressive conductive deafness and facial dysmorphism. {ECO:0000269 PubMed:19589401}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for FGF9

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with FGF9: view

No data available for Genatlas for FGF9 Gene

Publications for FGF9 Gene

  1. Molecular cloning of a novel cytokine cDNA encoding the ninth member of the fibroblast growth factor family, which has a unique secretion property. (PMID: 8321227) Miyamoto M … Kurokawa T (Molecular and cellular biology 1993) 2 3 4 23
  2. Multiple synostoses syndrome is due to a missense mutation in exon 2 of FGF9 gene. (PMID: 19589401) Wu XL … Wang ZG (American journal of human genetics 2009) 3 4 23
  3. Structure of fibroblast growth factor 9 shows a symmetric dimer with unique receptor- and heparin-binding interfaces. (PMID: 11223514) Hecht HJ … Yayon A (Acta crystallographica. Section D, Biological crystallography 2001) 3 4 23
  4. Crystal structure of fibroblast growth factor 9 reveals regions implicated in dimerization and autoinhibition. (PMID: 11060292) Plotnikov AN … Mohammadi M (The Journal of biological chemistry 2001) 3 4 23
  5. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PMID: 20634891) Jugessur A … Murray JC (PloS one 2010) 3 41

Products for FGF9 Gene

Sources for FGF9 Gene