FGF9 fibroblast growth factor 9 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FGF9provided by HGNC
Official Full Name: fibroblast growth factor 9provided by HGNC
Primary source: HGNC:HGNC:3687
See related: Ensembl:ENSG00000102678 MIM:600921; AllianceGenome:HGNC:3687
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GAF; FGF-9; SYNS3; HBFG-9; HBGF-9
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, 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]
Expression: Biased expression in kidney (RPKM 6.4), adrenal (RPKM 2.1) and 10 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 13q12.11

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (21671073..21704498)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (20865413..20898835)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (22245212..22278637)

Chromosome 13 - NC_000013.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

FGF9 Promotes Expression of HAS2 in Palatal Elevation via the Wnt/beta-Catenin/TCF7L2 Pathway.
Title: FGF9 Promotes Expression of HAS2 in Palatal Elevation via the Wnt/β-Catenin/TCF7L2 Pathway.
Fibroblast growth factor-9 expression in airway epithelial cells amplifies the type I interferon response and alters influenza A virus pathogenesis.
Title: Fibroblast growth factor-9 expression in airway epithelial cells amplifies the type I interferon response and alters influenza A virus pathogenesis.
Downregulated exosome-associated gene FGF9 as a novel diagnostic and prognostic target for ovarian cancer and its underlying roles in immune regulation.
Title: Downregulated exosome-associated gene FGF9 as a novel diagnostic and prognostic target for ovarian cancer and its underlying roles in immune regulation.
Upregulation of FGF9 in Lung Adenocarcinoma Transdifferentiation to Small Cell Lung Cancer.
Title: Upregulation of FGF9 in Lung Adenocarcinoma Transdifferentiation to Small Cell Lung Cancer.
miR4865p suppresses gastric cancer cell growth and migration through downregulation of fibroblast growth factor 9.
Title: miR‑486‑5p suppresses gastric cancer cell growth and migration through downregulation of fibroblast growth factor 9.
A novel heterozygous variant in FGF9 associated with previously unreported features of multiple synostosis syndrome 3.
Title: A novel heterozygous variant in FGF9 associated with previously unreported features of multiple synostosis syndrome 3.
Identification of the third FGF9 variant in a girl with multiple synostosis-comparison of the genotype:phenotype of FGF9 variants in humans and mice.
Title: Identification of the third FGF9 variant in a girl with multiple synostosis-comparison of the genotype:phenotype of FGF9 variants in humans and mice.
Downregulation of miR-499a-5p Predicts a Poor Prognosis of Patients With Non-Small Cell Lung Cancer and Restrains the Tumorigenesis by Targeting Fibroblast Growth Factor 9.
Title: Downregulation of miR-499a-5p Predicts a Poor Prognosis of Patients With Non-Small Cell Lung Cancer and Restrains the Tumorigenesis by Targeting Fibroblast Growth Factor 9.
Fgf9 Negatively Regulates Bone Mass by Inhibiting Osteogenesis and Promoting Osteoclastogenesis Via MAPK and PI3K/AKT Signaling.
Title: Fgf9 Negatively Regulates Bone Mass by Inhibiting Osteogenesis and Promoting Osteoclastogenesis Via MAPK and PI3K/AKT Signaling.
Effect of lentivirus-mediated miR-182 targeting FGF9 on hallux valgus.
Title: Effect of lentivirus-mediated miR-182 targeting FGF9 on hallux valgus.

Submit: New GeneRIF Correction See all GeneRIFs (70)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Multiple synostoses syndrome 3 MedGen: C2751826 OMIM: 612961 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat downregulates the expression of fibroblast growth factor 9 (FGF9) in human primary T cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH48943 (e-PCR)
- UniSTS:14343

G43600 (e-PCR)
- UniSTS:95037

Fgf9 (e-PCR), detects polymorphism
- UniSTS:547902

NoName (e-PCR)
- UniSTS:482652

STS-D14838 (e-PCR)
- UniSTS:4523

D13S143 (e-PCR)
- UniSTS:147654

D13S143 (e-PCR)
- UniSTS:147655

D13S1821 (e-PCR)
- UniSTS:43989

RH78332 (e-PCR)
- UniSTS:27863

Fgf9 (e-PCR), detects polymorphism
- UniSTS:258275

STS-H24274 (e-PCR)
- UniSTS:57583

FGF9_1657 (e-PCR)
- UniSTS:277238

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables fibroblast growth factor receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables growth factor activity	IBA Inferred from Biological aspect of Ancestor more info
enables heparin binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in Sertoli cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in activin receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in angiogenesis	IEA Inferred from Electronic Annotation more info
involved_in animal organ morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in canonical Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in cardiac muscle cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell-cell signaling	TAS Traceable Author Statement more info	PubMed
involved_in chondrocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in embryonic digestive tract development	IEA Inferred from Electronic Annotation more info
involved_in embryonic limb morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in embryonic skeletal system development	IEA Inferred from Electronic Annotation more info
involved_in eye development	IEA Inferred from Electronic Annotation more info
involved_in fibroblast growth factor receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within fibroblast growth factor receptor signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in inner ear morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in lung-associated mesenchyme development	IEA Inferred from Electronic Annotation more info
involved_in male gonad development	IEP Inferred from Expression Pattern more info	PubMed
involved_in male sex determination	IEA Inferred from Electronic Annotation more info
involved_in mesenchymal cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of vascular associated smooth muscle cell differentiation involved in phenotypic switching	ISS Inferred from Sequence or Structural Similarity more info
involved_in osteoblast differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of MAPK cascade	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of activin receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of canonical Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cardiac muscle cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell division	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell population proliferation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within positive regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of gene expression	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of mesenchymal cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of protein phosphorylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of reproductive process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of smoothened signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of stem cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of vascular associated smooth muscle cell migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of vascular associated smooth muscle cell proliferation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of vascular associated smooth muscle cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of vascular endothelial growth factor receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in protein import into nucleus	IEA Inferred from Electronic Annotation more info
involved_in regulation of cell migration	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of timing of cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in smoothened signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in stem cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in substantia nigra development	HEP more info	PubMed
involved_in vascular endothelial growth factor receptor signaling pathway	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: fibroblast growth factor 9

Names: fibroblast growth factor 9 (glia-activating factor); heparin-binding growth factor 9

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_016272.1 RefSeqGene

Range

4998..38423

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_002010.3 → NP_002001.1 fibroblast growth factor 9 precursor

See identical proteins and their annotated locations for NP_002001.1

Status: REVIEWED

Source sequence(s)

AK290792, AL139378, CR746503, D14838

Consensus CDS

CCDS9298.1

UniProtKB/Swiss-Prot

A8K427, P31371, Q3SY32

UniProtKB/TrEMBL

A0A7U3L6D0

Related

ENSP00000371790.5, ENST00000382353.6

Conserved Domains (1) summary

pfam00167
Location:62 → 188

FGF; Fibroblast growth factor

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000013.11 Reference GRCh38.p14 Primary Assembly

Range

21671073..21704498

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011534996.3 → XP_011533298.1 fibroblast growth factor 9 isoform X1

Conserved Domains (1) summary

smart00442
Location:40 → 140

FGF; Acidic and basic fibroblast growth factor family