FGF3 fibroblast growth factor 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FGF3provided by HGNC
Official Full Name: fibroblast growth factor 3provided by HGNC
Primary source: HGNC:HGNC:3681
See related: Ensembl:ENSG00000186895 MIM:164950; AllianceGenome:HGNC:3681
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: INT2; HBGF-3
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 gene was identified by its similarity with mouse fgf3/int-2, a proto-oncogene activated in virally induced mammary tumors in the mouse. Frequent amplification of this gene has been found in human tumors, which may be important for neoplastic transformation and tumor progression. Studies of the similar genes in mouse and chicken suggested the role in inner ear formation. [provided by RefSeq, Jul 2008]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 11q13.3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (69809968..69819416, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (69826890..69836324, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (69624736..69634184, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

Primer on FGF3.
Title: Primer on FGF3.
Acquired FGFR and FGF Alterations Confer Resistance to Estrogen Receptor (ER) Targeted Therapy in ER(+) Metastatic Breast Cancer.
Title: Acquired FGFR and FGF Alterations Confer Resistance to Estrogen Receptor (ER) Targeted Therapy in ER(+) Metastatic Breast Cancer.
eight cases of LAMM syndrome with three novel FGF3 mutations
Title: Three New Mutations and Mild, Asymmetrical Phenotype in the Highly Distinctive LAMM Syndrome: A Report of Eight Further Cases.
Upregulation of int-2 expression can significantly inhibit the invasion and metastasis of BcaCD885 cells
Title: Inhibitory effects of int-2 gene on the invasion and metastasis of oral cancer cells.
Genetic polymorphisms in FGF3, FGF10, and FGF13 genes were associated with temporomandibular disorders in a population with dentofacial deformities
Title: Polymorphisms in FGF3, FGF10, and FGF13 May Contribute to the Presence of Temporomandibular Disorders in Patients Who Required Orthognathic Surgery.
FGFR1 and/or FGF3 gene amplification correlated with a lower pathologic complete response in patients with HER2(+) early breast cancer treated with neoadjuvant anti-HER2 therapy
Title: HER2-Overexpressing Breast Cancers Amplify FGFR Signaling upon Acquisition of Resistance to Dual Therapeutic Blockade of HER2.
fibroblast growth factor receptor 3 missense mutations were identified in 5 cases of thanatophoric dysplasia
Title: Genetically confirmed thanatophoric dysplasia with fibroblast growth factor receptor 3 mutation.
MCF7 cells over-expressing both WNT1 and FGF3 show a 3.5-fold increase in mammosphere formation; conditioned media from these cells also promotes stem cell activity in untransfected parental MCF7 and T47D cells, as WNT1 and FGF3 are secreted factors.
Title: Mitochondrial mass, a new metabolic biomarker for stem-like cancer cells: Understanding WNT/FGF-driven anabolic signaling.
analysis provided evidence for gene-gene interaction between FGF3 (rs4980700) and PAX9 (rs2073242), increasing risk for isolated oral clefts (p = 0.0003). FGF3 is associated with oral clefts and may interact with PAX9.
Title: Studies of genes involved in craniofacial development and tumorigenesis: FGF3 contributes to isolated oral clefts and may interact with PAX9.
haplotypes may contribute to the tendon disease process in elite volleyball athletes
Title: BMP4 and FGF3 haplotypes increase the risk of tendinopathy in volleyball athletes.

Submit: New GeneRIF Correction See all GeneRIFs (27)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Deafness with labyrinthine aplasia, microtia, and microdontia MedGen: C1853144 OMIM: 610706 GeneReviews: Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia	not available

EBI GWAS Catalog

Description
A genome-wide association study identifies protein quantitative trait loci (pQTLs). EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies five new breast cancer susceptibility loci. 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-11930 (e-PCR)
- UniSTS:21518

NoName (e-PCR)
- UniSTS:483620

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 protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in anatomical structure morphogenesis	TAS Traceable Author Statement more info	PubMed
involved_in cell-cell signaling	TAS Traceable Author Statement more info	PubMed
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 negative regulation of cardiac muscle tissue development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neurogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of MAPK cascade	IBA Inferred from Biological aspect of Ancestor 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	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of cell migration	IBA Inferred from Biological aspect of Ancestor more info
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed

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

General protein information

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Preferred Names: fibroblast growth factor 3

Names: FGF-3; INT-2 proto-oncogene protein; V-INT2 murine mammary tumor virus integration site oncogene homolog; fibroblast growth factor 3 (murine mammary tumor virus integration site (v-int-2) oncogene homolog); heparin-binding growth factor 3; murine mammary tumor virus integration site 2, mouse; oncogene INT2; proto-oncogene Int-2

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.