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Aliases for FGF3 Gene

Aliases for FGF3 Gene

  • Fibroblast Growth Factor 3 2 3 5
  • Fibroblast Growth Factor 3 (Murine Mammary Tumor Virus Integration Site (V-Int-2) Oncogene Homolog) 2 3
  • V-INT2 Murine Mammary Tumor Virus Integration Site Oncogene Homolog 2 3
  • Murine Mammary Tumor Virus Integration Site 2, Mouse 2 3
  • Heparin-Binding Growth Factor 3 3 4
  • INT-2 Proto-Oncogene Protein 2 3
  • Proto-Oncogene Int-2 3 4
  • Oncogene INT2 2 3
  • HBGF-3 3 4
  • FGF-3 3 4
  • INT2 3 4

External Ids for FGF3 Gene

Previous HGNC Symbols for FGF3 Gene

  • INT2

Previous GeneCards Identifiers for FGF3 Gene

  • GC11U990037
  • GC11M069397
  • GC11M069333
  • GC11M069624
  • GC11M065917

Summaries for FGF3 Gene

Entrez Gene Summary for FGF3 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 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]

GeneCards Summary for FGF3 Gene

FGF3 (Fibroblast Growth Factor 3) is a Protein Coding gene. Diseases associated with FGF3 include Deafness, Congenital With Inner Ear Agenesis, Microtia, And Microdontia and Deafness With Labyrinthine Aplasia Microtia And Microdontia. Among its related pathways are RET signaling and Immune System. GO annotations related to this gene include growth factor activity and fibroblast growth factor receptor binding. An important paralog of this gene is FGF10.

UniProtKB/Swiss-Prot for FGF3 Gene

  • Plays an important role in the regulation of embryonic development, cell proliferation, and cell differentiation. Required for normal ear development.

Gene Wiki entry for FGF3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FGF3 Gene

Genomics for FGF3 Gene

Regulatory Elements for FGF3 Gene

Enhancers for FGF3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11F069840 0.9 FANTOM5 ENCODE 29.8 -21.4 -21403 0.4 TFAP4 MXD4 ZIC2 ZNF592 POLR2A ZKSCAN8 GLIS1 ZBTB33 TCF7L2 FGF3 FGF19 ENSG00000260348
GH11F069843 0.8 ENCODE 12.5 -23.8 -23834 0.1 DMAP1 SLC30A9 GATA4 CREM MXD4 REST KAT8 TGIF2 KLF16 RCOR2 FGF3 FGF4 ENSG00000254721 FADD ENSG00000260348
GH11F069744 0.8 Ensembl ENCODE 11.4 +74.6 74599 1.0 JUND TEAD1 FOS NFE2L2 FGF4 FGF3 ORAOV1 ANO1-AS1 LOC100129779
GH11F069842 0.6 ENCODE 12.5 -22.9 -22864 0.2 SMARCA5 CTCF RCOR2 SMC3 KDM1A RAD21 FGF3 FGF4 FADD ENSG00000254721 ENSG00000260348
GH11F069867 0.6 ENCODE 11.5 -48.5 -48504 0.2 ATF1 JUND ATF3 MAX CREM ATF2 FGF3 FGF4 ANO1-AS1 ENSG00000260348
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FGF3 on UCSC Golden Path with GeneCards custom track

Genomic Location for FGF3 Gene

Chromosome:
11
Start:
69,809,968 bp from pter
End:
69,819,424 bp from pter
Size:
9,457 bases
Orientation:
Minus strand

Genomic View for FGF3 Gene

Genes around FGF3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FGF3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FGF3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FGF3 Gene

Proteins for FGF3 Gene

  • Protein details for FGF3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P11487-FGF3_HUMAN
    Recommended name:
    Fibroblast growth factor 3
    Protein Accession:
    P11487
    Secondary Accessions:
    • Q0VG69

    Protein attributes for FGF3 Gene

    Size:
    239 amino acids
    Molecular mass:
    26887 Da
    Quaternary structure:
    • Interacts with FGFR1 and FGFR2. Affinity between fibroblast growth factors (FGFs) and their receptors is increased by heparan sulfate glycosaminoglycans that function as coreceptors.

neXtProt entry for FGF3 Gene

Post-translational modifications for FGF3 Gene

  • Glycosylation at Asn 65
  • Modification sites at PhosphoSitePlus

Other Protein References for FGF3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for FGF3

No data available for DME Specific Peptides for FGF3 Gene

Domains & Families for FGF3 Gene

Suggested Antigen Peptide Sequences for FGF3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P11487

UniProtKB/Swiss-Prot:

FGF3_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 FGF3: view

No data available for Gene Families for FGF3 Gene

Function for FGF3 Gene

Molecular function for FGF3 Gene

GENATLAS Biochemistry:
fibroblast growth factor 3,basic,expressed during embryonic development
UniProtKB/Swiss-Prot Function:
Plays an important role in the regulation of embryonic development, cell proliferation, and cell differentiation. Required for normal ear development.

LifeMap Function Summary for FGF3 Gene

During embryonic development, FGF3 as signaling molecule is secreted from the following cells
It affects the following cells:

Gene Ontology (GO) - Molecular Function for FGF3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004713 protein tyrosine kinase activity TAS --
GO:0005088 Ras guanyl-nucleotide exchange factor activity TAS --
GO:0005102 receptor binding IEA --
GO:0005104 fibroblast growth factor receptor binding IEA --
GO:0005515 protein binding IPI 16263090
genes like me logo Genes that share ontologies with FGF3: view
genes like me logo Genes that share phenotypes with FGF3: view

Human Phenotype Ontology for FGF3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FGF3 Gene

MGI Knock Outs for FGF3:

Animal Model Products

miRNA for FGF3 Gene

miRTarBase miRNAs that target FGF3

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for FGF3 Gene

Localization for FGF3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FGF3 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 FGF3 gene
Compartment Confidence
extracellular 5
nucleus 3
cytosol 2
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for FGF3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA,TAS --
GO:0005622 intracellular IEA --
genes like me logo Genes that share ontologies with FGF3: view

Pathways & Interactions for FGF3 Gene

SuperPathway Contained pathways
1 RET signaling
2 Downstream signaling of activated FGFR2
3 GAB1 signalosome
4 Negative regulation of FGFR1 signaling
5 Signaling by FGFR2
genes like me logo Genes that share pathways with FGF3: view

SIGNOR curated interactions for FGF3 Gene

Activates:

Gene Ontology (GO) - Biological Process for FGF3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0007165 signal transduction TAS 2470007
GO:0007267 cell-cell signaling TAS 2470007
GO:0007275 multicellular organism development IEA --
GO:0008284 positive regulation of cell proliferation IGI 8663044
genes like me logo Genes that share ontologies with FGF3: view

Drugs & Compounds for FGF3 Gene

(1) Drugs for FGF3 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Heparin Approved, Investigational Pharma Antagonist 812,256

(5) Additional Compounds for FGF3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with FGF3: view

Transcripts for FGF3 Gene

mRNA/cDNA for FGF3 Gene

(1) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for FGF3 Gene

Fibroblast growth factor 3:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for FGF3 Gene

No ASD Table

Relevant External Links for FGF3 Gene

GeneLoc Exon Structure for
FGF3
ECgene alternative splicing isoforms for
FGF3

Expression for FGF3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FGF3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FGF3 Gene

This gene is overexpressed in Brain - Cerebellum (x29.0) and Brain - Cerebellar Hemisphere (x23.1).

Protein differential expression in normal tissues from HIPED for FGF3 Gene

This gene is overexpressed in Pancreas (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for FGF3 Gene



Protein tissue co-expression partners for FGF3 Gene

NURSA nuclear receptor signaling pathways regulating expression of FGF3 Gene:

FGF3

SOURCE GeneReport for Unigene cluster for FGF3 Gene:

Hs.37092
genes like me logo Genes that share expression patterns with FGF3: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for FGF3 Gene

Orthologs for FGF3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FGF3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FGF3 34 35
  • 99.3 (n)
cow
(Bos Taurus)
Mammalia FGF3 34 35
  • 88.72 (n)
rat
(Rattus norvegicus)
Mammalia Fgf3 34
  • 84.86 (n)
mouse
(Mus musculus)
Mammalia Fgf3 34 16 35
  • 83.57 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FGF3 35
  • 75 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FGF3 35
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves FGF3 34 35
  • 69.83 (n)
lizard
(Anolis carolinensis)
Reptilia FGF3 35
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fgf3 34
  • 71.1 (n)
African clawed frog
(Xenopus laevis)
Amphibia fgf3-A 34
zebrafish
(Danio rerio)
Actinopterygii fgf3 34 35
  • 65.28 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CS-FGF9/16/20 35
  • 22 (a)
OneToMany
Species where no ortholog for FGF3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • dog (Canis familiaris)
  • 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 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)

Evolution for FGF3 Gene

ENSEMBL:
Gene Tree for FGF3 (if available)
TreeFam:
Gene Tree for FGF3 (if available)

Paralogs for FGF3 Gene

(13) SIMAP similar genes for FGF3 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with FGF3: view

Variants for FGF3 Gene

Sequence variations from dbSNP and Humsavar for FGF3 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs121917703 Deafness with labyrinthine aplasia, microtia and microdontia (LAMM) [MIM:610706], Pathogenic 69,810,559(-) ACGTG(C/T)CTGTG reference, missense
rs121917706 Deafness with labyrinthine aplasia, microtia and microdontia (LAMM) [MIM:610706], Pathogenic 69,818,917(-) CTGGC(C/T)GCTAC upstream-variant-2KB, reference, missense
rs121917704 Pathogenic 69,816,334(-) GGGGA(C/T)GACTC reference, stop-gained
rs121917705 Pathogenic 69,818,738(-) TCAAC(G/T)GCAGC upstream-variant-2KB, reference, missense
rs281860300 Pathogenic 69,818,788(-) GCTCT(A/G)CTGCG upstream-variant-2KB, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for FGF3 Gene

Variant ID Type Subtype PubMed ID
nsv951034 CNV deletion 24416366
nsv832200 CNV loss 17160897
nsv832199 CNV gain+loss 17160897
nsv825973 CNV gain 20364138
nsv555327 CNV loss 21841781
nsv508640 CNV deletion 20534489
nsv468624 CNV loss 19166990
nsv1070049 CNV deletion 25765185
esv2744699 CNV deletion 23290073

Variation tolerance for FGF3 Gene

Gene Damage Index Score: 1.34; 26.49% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FGF3 Gene

Human Gene Mutation Database (HGMD)
FGF3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FGF3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FGF3 Gene

Disorders for FGF3 Gene

MalaCards: The human disease database

(13) MalaCards diseases for FGF3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
deafness, congenital with inner ear agenesis, microtia, and microdontia
  • deafness, congenital, with inner ear agenesis, microtia, and microdontia
deafness with labyrinthine aplasia microtia and microdontia
  • deafness, congenital, with inner ear agenesis, microtia, and microdontia
microtia
otodental dysplasia
  • 11q13.3 deletion syndrome
inner ear disease
  • labyrinthine disease
- elite association - COSMIC cancer census association via MalaCards
Search FGF3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FGF3_HUMAN
  • Deafness with labyrinthine aplasia, microtia and microdontia (LAMM) [MIM:610706]: Unique autosomal recessive syndrome characterized by type I microtia, microdontia, and profound congenital deafness associated with a complete absence of inner ear structures (Michel aplasia). {ECO:0000269 PubMed:17236138, ECO:0000269 PubMed:18435799}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for FGF3

Genetic Association Database (GAD)
FGF3
Human Genome Epidemiology (HuGE) Navigator
FGF3
Tumor Gene Database (TGDB):
FGF3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FGF3
genes like me logo Genes that share disorders with FGF3: view

No data available for Genatlas for FGF3 Gene

Publications for FGF3 Gene

  1. Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia. (PMID: 18435799) Tekin M. … Duman D. (Clin. Genet. 2008) 3 4 22 64
  2. Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia. (PMID: 17236138) Tekin M. … Akar N. (Am. J. Hum. Genet. 2007) 3 4 22 64
  3. Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3). (PMID: 18701883) Alsmadi O. … Al-Sayed M. (Eur. J. Hum. Genet. 2009) 3 22 64
  4. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PMID: 19453261) Yerges L.M. … Zmuda J.M. (J. Bone Miner. Res. 2009) 3 46 64
  5. A genome-wide association study identifies protein quantitative trait loci (pQTLs). (PMID: 18464913) Melzer D. … Ferrucci L. (PLoS Genet. 2008) 3 46 64

Products for FGF3 Gene

Sources for FGF3 Gene

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