Human Gene FGF3 (ENST00000334134.4_9) from GENCODE V47lift37
  Description: fibroblast growth factor 3 (from RefSeq NM_005247.4)
Gencode Transcript: ENST00000334134.4_9
Gencode Gene: ENSG00000186895.4_11
Transcript (Including UTRs)
   Position: hg19 chr11:69,624,736-69,634,184 Size: 9,449 Total Exon Count: 3 Strand: -
Coding Region
   Position: hg19 chr11:69,625,073-69,633,701 Size: 8,629 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:69,624,736-69,634,184)mRNA (may differ from genome)Protein (239 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: FGF3_HUMAN
DESCRIPTION: RecName: Full=Fibroblast growth factor 3; Short=FGF-3; AltName: Full=Heparin-binding growth factor 3; Short=HBGF-3; AltName: Full=Proto-oncogene Int-2; Flags: Precursor;
FUNCTION: Plays an important role in the regulation of embryonic development, cell proliferation, and cell differentiation. Required for normal ear development.
SUBUNIT: Interacts with FGFR1 and FGFR2. Affinity between fibroblast growth factors (FGFs) and their receptors is increased by heparan sulfate glycosaminoglycans that function as coreceptors.
SUBCELLULAR LOCATION: Secreted (Potential).
DISEASE: Defects in FGF3 are a cause of deafness with labyrinthine aplasia, microtia and microdontia (LAMM) [MIM:610706]; also known as congenital deafness with inner ear agenesis, microtia and microdontia. LAMM consists of a 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).
SIMILARITY: Belongs to the heparin-binding growth factors family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: FGF3
Diseases sorted by gene-association score: deafness, congenital with inner ear agenesis, microtia, and microdontia* (1650), deafness with labyrinthine aplasia microtia and microdontia* (431), microtia (27), otodental dysplasia* (25), inner ear disease (23), hypochondroplasia (19), achondroplasia (17), diabetes mellitus, insulin-dependent, 4 (12), diabetes mellitus, insulin-dependent, 12 (11), breast cancer (9), deafness, autosomal recessive 63 (7), ladd syndrome (7), diabetes mellitus, insulin-dependent, 8 (7), diabetes mellitus, insulin-dependent, 5 (7), diabetes mellitus, insulin-dependent, 2 (7), papillary adenocarcinoma (5), tooth agenesis (5), parathyroid gland disease (5), endometrial cancer (4), hepatocellular carcinoma (3), melanoma (3)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 10.62 RPKM in Brain - Cerebellum
Total median expression: 20.14 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -202.90483-0.420 Picture PostScript Text
3' UTR -137.30337-0.407 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR008996 - Cytokine_IL1-like
IPR002209 - GF_heparin-bd
IPR002348 - IL1_HBGF

Pfam Domains:
PF00167 - Fibroblast growth factor

SCOP Domains:
50353 - Cytokine
50405 - Actin-crosslinking proteins

ModBase Predicted Comparative 3D Structure on P11487
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004713 protein tyrosine kinase activity
GO:0005088 Ras guanyl-nucleotide exchange factor activity
GO:0005104 fibroblast growth factor receptor binding
GO:0005515 protein binding
GO:0008083 growth factor activity
GO:0016303 1-phosphatidylinositol-3-kinase activity
GO:0046934 phosphatidylinositol-4,5-bisphosphate 3-kinase activity

Biological Process:
GO:0000165 MAPK cascade
GO:0007165 signal transduction
GO:0007267 cell-cell signaling
GO:0007275 multicellular organism development
GO:0008284 positive regulation of cell proliferation
GO:0008543 fibroblast growth factor receptor signaling pathway
GO:0009653 anatomical structure morphogenesis
GO:0010469 regulation of receptor activity
GO:0018108 peptidyl-tyrosine phosphorylation
GO:0030154 cell differentiation
GO:0036092 phosphatidylinositol-3-phosphate biosynthetic process
GO:0046854 phosphatidylinositol phosphorylation
GO:0051781 positive regulation of cell division
GO:0051897 positive regulation of protein kinase B signaling
GO:0055026 negative regulation of cardiac muscle tissue development

Cellular Component:
GO:0005576 extracellular region
GO:0005622 intracellular


-  Descriptions from all associated GenBank mRNAs
  JD460161 - Sequence 441185 from Patent EP1572962.
JD336283 - Sequence 317307 from Patent EP1572962.
JD217100 - Sequence 198124 from Patent EP1572962.
JD453196 - Sequence 434220 from Patent EP1572962.
JD427808 - Sequence 408832 from Patent EP1572962.
JD518842 - Sequence 499866 from Patent EP1572962.
JD423304 - Sequence 404328 from Patent EP1572962.
JD325615 - Sequence 306639 from Patent EP1572962.
BC113739 - Homo sapiens fibroblast growth factor 3 (murine mammary tumor virus integration site (v-int-2) oncogene homolog), mRNA (cDNA clone MGC:142299 IMAGE:8322791), complete cds.
JD455758 - Sequence 436782 from Patent EP1572962.
KJ891162 - Synthetic construct Homo sapiens clone ccsbBroadEn_00556 FGF3 gene, encodes complete protein.
LF212172 - JP 2014500723-A/19675: Polycomb-Associated Non-Coding RNAs.
LF213110 - JP 2014500723-A/20613: Polycomb-Associated Non-Coding RNAs.
JD523282 - Sequence 504306 from Patent EP1572962.
JD259318 - Sequence 240342 from Patent EP1572962.
JD259359 - Sequence 240383 from Patent EP1572962.
JD519488 - Sequence 500512 from Patent EP1572962.
JD416661 - Sequence 397685 from Patent EP1572962.
JD259262 - Sequence 240286 from Patent EP1572962.
JD185182 - Sequence 166206 from Patent EP1572962.
JD067179 - Sequence 48203 from Patent EP1572962.
JD470794 - Sequence 451818 from Patent EP1572962.
JD217783 - Sequence 198807 from Patent EP1572962.
MA447749 - JP 2018138019-A/19675: Polycomb-Associated Non-Coding RNAs.
MA448687 - JP 2018138019-A/20613: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P11487 (Reactome details) participates in the following event(s):

R-HSA-190245 FGFR1b binds to FGF
R-HSA-5654511 FGFRL1 dimer binds FGFs
R-HSA-190427 Autocatalytic phosphorylation of FGFR1b
R-HSA-2033474 FGFR2b mutants bind an expanded range of ligands
R-HSA-2077421 FP-1039 acts as a ligand-trap for FGFR2b-binding ligands in endometrial cancer
R-HSA-5654167 Activated FGFR1 binds PLCG1
R-HSA-5654569 Activated FGFR1 binds FRS2
R-HSA-5654571 Activated FGFR1 binds FRS3
R-HSA-5654573 Activated FGFR1 binds SHC1
R-HSA-5656064 Activated FGFR1 binds FLRT1,2,3
R-HSA-5654165 p-4Y-PLCG1 dissociates from activated FGFR1
R-HSA-190408 Autocatalytic phosphorylation of FGFR2b
R-HSA-2033488 Autocatalytic phosphorylation of FGFR2b mutants with enhanced ligand binding
R-HSA-5654149 Activated FGFR1 phosphorylates PLCG1
R-HSA-5654560 Activated ERK1/2 threonine-phosphorylates FGFR1-associated FRS2.
R-HSA-5654575 Activated FGFR1 phosphorylates FRS2
R-HSA-5654592 Activated FGFR1:p-FRS2 binds GRB2:GAB1:PIK3R1
R-HSA-5654578 Activated FGFR1 phosphorylates FRS3
R-HSA-5654582 Activated FGFR1 phosphorylates SHC1
R-HSA-5654597 Activated FGFR1:p-SHC1 binds GRB2:SOS1
R-HSA-5654159 Activated FGFR2 binds PLCG1
R-HSA-5654399 Activated FGFR2 binds FRS2
R-HSA-5654404 Activated FGFR2 binds SHC1
R-HSA-5654603 Activated FGFR2 binds FRS3
R-HSA-5654157 p-4Y-PLCG1 dissociates from activated FGFR2
R-HSA-2077424 Point mutants of FGFR2 bind and are inactivated by tyrosine kinase inhibitors
R-HSA-5655339 Activated FGFR2 mutants bind FRS2
R-HSA-5655343 Activated FGFR2 mutants bind PLCG1
R-HSA-5654748 p-4Y-PLCG1 dissociates from activated FGFR2 mutants
R-HSA-5654591 Activated FGFR1:p-FRS2:GRB2:GAB1:PI3KR1 binds PIK3CA
R-HSA-5654594 Activated FGFR1:p-FRS2:p-PPTN11 binds GRB2:GAB1:PI3KR1
R-HSA-5654673 p-CBL:GRB2 binds p-FRS2:activated FGFR1
R-HSA-5654584 Activated FGFR1:p-FRS bind to PPTN11
R-HSA-5654586 Activated FGFR1:p-FRS binds GRB2:SOS1
R-HSA-5654147 Activated FGFR2 phosphorylates PLCG1
R-HSA-5654397 Activated FGFR2 phosphorylates FRS2
R-HSA-5654562 Activated ERK1/2 threonine-phosphorylates FGFR2-associated FRS2
R-HSA-5654612 Activated FGFR2:p-FRS2 binds GRB2:GAB1:PIK3R1
R-HSA-5654605 Activated FGFR2 phosphorylates FRS3
R-HSA-5654407 Activated FGFR2 phosphorylates SHC1
R-HSA-5654406 Activated FGFR2:p-SHC1 binds GRB2:SOS1
R-HSA-5655301 Activated FGFR2 mutants phosphorylate PLCG1
R-HSA-5655233 Activated FGFR2 mutants:p-FRS2 binds GRB2-SOS1
R-HSA-5655320 Activated FGFR2 mutants:p-FRS2 binds GRB2:GAB1:PIK3R1
R-HSA-5655268 Activated FGFR2 mutants phosphorylate FRS2
R-HSA-5654596 Activated FGFR1:p-FRS2:p-PPTN11:GRB2:GAB1:PIK3R1 binds PIK3CA
R-HSA-5654672 CBL ubiquitinates FRS2 and FGFR1
R-HSA-5654587 Activated FGFR1:p-FRS phosphorylates PPTN11
R-HSA-5654600 Activated FGFR1:p-SHC1:GRB2:SOS1 activates RAS nucleotide exchange
R-HSA-5654620 Activated FGFR2:p-FRS2:p-PPTN11 binds GRB2:GAB1:PI3KR1
R-HSA-5654729 p-CBL:GRB2 binds p-FRS2:activated FGFR2
R-HSA-5654614 Activated FGFR2:p-FRS2:GRB2:GAB1:PI3KR1 binds PIK3CA
R-HSA-5654608 Activated FGFR2:p-FRS bind to PPTN11
R-HSA-5654615 Activated FGFR2:pFRS binds GRB2:SOS1
R-HSA-5655245 Activated FGFR2 mutants:p-FRS2:GRB2:GAB1:PIK3R1 binds PIK3CA
R-HSA-5654690 FGFR1-associated PI3K phosphorylates PIP2 to PIP3
R-HSA-5654392 Activated FGFR1:p-FRS:GRB2:SOS1 activates RAS nucleotide exchange
R-HSA-5672965 RAS GEFs promote RAS nucleotide exchange
R-HSA-5654622 Activated FGFR2:p-FRS2:p-PPTN11:GRB2:GAB1:PIK3R1 binds PIK3CA
R-HSA-5654677 CBL ubiquitinates FRS2 and FGFR2
R-HSA-5654607 Activated FGFR2 phosphorylates PPTN11
R-HSA-5654402 Activated FGFR2:p-SHC1:GRB2:SOS1 activates RAS nucleotide exchange
R-HSA-5655241 Activated FGFR2 mutants:p-FRS2:GRB2:SOS1 activates RAS nucleotide exchange
R-HSA-2400009 PI3K inhibitors block PI3K catalytic activity
R-HSA-2316434 PI3K phosphorylates PIP2 to PIP3
R-HSA-5654692 FGFR1- and PTPN11- associated PI3K phosphorylates PIP2 to PIP3
R-HSA-5654701 FGFR2-associated PI3K phosphorylates PIP2 to PIP3
R-HSA-5654618 Activated FGFR2:p-FRS2:GRB2:SOS1 activates RAS nucleotide exchange
R-HSA-5655323 Activated FGFR2 mutant-associated PI3K phosphorylates PIP2 to PIP3
R-HSA-109699 PI3K-containing complexes phosphorylate PIP2 to PIP3
R-HSA-5654697 FGFR2- and PTPN11- associated PI3K phosphorylates PIP2 to PIP3
R-HSA-190370 FGFR1b ligand binding and activation
R-HSA-190377 FGFR2b ligand binding and activation
R-HSA-5658623 FGFRL1 modulation of FGFR1 signaling
R-HSA-190242 FGFR1 ligand binding and activation
R-HSA-2033519 Activated point mutants of FGFR2
R-HSA-190241 FGFR2 ligand binding and activation
R-HSA-5654736 Signaling by FGFR1
R-HSA-5654219 Phospholipase C-mediated cascade: FGFR1
R-HSA-5654693 FRS-mediated FGFR1 signaling
R-HSA-5654688 SHC-mediated cascade:FGFR1
R-HSA-5654687 Downstream signaling of activated FGFR1
R-HSA-1839126 FGFR2 mutant receptor activation
R-HSA-5654738 Signaling by FGFR2
R-HSA-190236 Signaling by FGFR
R-HSA-5654726 Negative regulation of FGFR1 signaling
R-HSA-5654689 PI-3K cascade:FGFR1
R-HSA-5654221 Phospholipase C-mediated cascade; FGFR2
R-HSA-5654700 FRS-mediated FGFR2 signaling
R-HSA-5654699 SHC-mediated cascade:FGFR2
R-HSA-5655253 Signaling by FGFR2 in disease
R-HSA-9006934 Signaling by Receptor Tyrosine Kinases
R-HSA-5654727 Negative regulation of FGFR2 signaling
R-HSA-5654695 PI-3K cascade:FGFR2
R-HSA-5654696 Downstream signaling of activated FGFR2
R-HSA-1226099 Signaling by FGFR in disease
R-HSA-162582 Signal Transduction
R-HSA-5663202 Diseases of signal transduction
R-HSA-5673001 RAF/MAP kinase cascade
R-HSA-1643685 Disease
R-HSA-2219530 Constitutive Signaling by Aberrant PI3K in Cancer
R-HSA-1257604 PIP3 activates AKT signaling
R-HSA-6811558 PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
R-HSA-5684996 MAPK1/MAPK3 signaling
R-HSA-109704 PI3K Cascade
R-HSA-2219528 PI3K/AKT Signaling in Cancer
R-HSA-9006925 Intracellular signaling by second messengers
R-HSA-199418 Negative regulation of the PI3K/AKT network
R-HSA-5683057 MAPK family signaling cascades
R-HSA-112399 IRS-mediated signalling
R-HSA-74751 Insulin receptor signalling cascade
R-HSA-2428928 IRS-related events triggered by IGF1R
R-HSA-74752 Signaling by Insulin receptor
R-HSA-2428924 IGF1R signaling cascade
R-HSA-2404192 Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000334134.1, ENST00000334134.2, ENST00000334134.3, FGF3_HUMAN, INT2, NM_005247, P11487, Q0VG69, uc317tvv.1, uc317tvv.2
UCSC ID: ENST00000334134.4_9
RefSeq Accession: NM_005247.4
Protein: P11487 (aka FGF3_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene FGF3:
df-lamm (Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.