Human Gene FGF6 (ENST00000228837.3_6) from GENCODE V47lift37
  Description: fibroblast growth factor 6 (from RefSeq NM_020996.3)
Gencode Transcript: ENST00000228837.3_6
Gencode Gene: ENSG00000111241.3_9
Transcript (Including UTRs)
   Position: hg19 chr12:4,543,308-4,554,981 Size: 11,674 Total Exon Count: 3 Strand: -
Coding Region
   Position: hg19 chr12:4,543,381-4,554,736 Size: 11,356 Coding Exon Count: 3 

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

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:4,543,308-4,554,981)mRNA (may differ from genome)Protein (208 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: FGF6_HUMAN
DESCRIPTION: RecName: Full=Fibroblast growth factor 6; Short=FGF-6; AltName: Full=Heparin secretory-transforming protein 2; Short=HST-2; Short=HSTF-2; AltName: Full=Heparin-binding growth factor 6; Short=HBGF-6; Flags: Precursor;
FUNCTION: Plays an important role in the regulation of cell proliferation, cell differentiation, angiogenesis and myogenesis, and is required for normal muscle regeneration.
SUBUNIT: Interacts with FGFR1, FGFR2 and FGFR4. Affinity between fibroblast growth factors (FGFs) and their receptors is increased by heparan sulfate glycosaminoglycans that function as coreceptors.
SUBCELLULAR LOCATION: Secreted, extracellular space.
TISSUE SPECIFICITY: Leukemia cell lines with platelet/ megakaryocytic differentiation potential.
SIMILARITY: Belongs to the heparin-binding growth factors family.
SEQUENCE CAUTION: Sequence=CAA40359.1; Type=Erroneous initiation; Sequence=CAA40360.1; Type=Erroneous initiation;
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/fgf6/";

-  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: FGF6
Diseases sorted by gene-association score: breast cancer (2)

-  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: 0.76 RPKM in Muscle - Skeletal
Total median expression: 0.86 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 -94.00245-0.384 Picture PostScript Text
3' UTR -8.0073-0.110 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 P10767
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: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:0001502 cartilage condensation
GO:0001525 angiogenesis
GO:0007165 signal transduction
GO:0007267 cell-cell signaling
GO:0007275 multicellular organism development
GO:0008283 cell proliferation
GO:0008284 positive regulation of cell proliferation
GO:0008543 fibroblast growth factor receptor signaling pathway
GO:0010469 regulation of receptor activity
GO:0018108 peptidyl-tyrosine phosphorylation
GO:0030154 cell differentiation
GO:0036092 phosphatidylinositol-3-phosphate biosynthetic process
GO:0045445 myoblast differentiation
GO:0046854 phosphatidylinositol phosphorylation
GO:0051781 positive regulation of cell division
GO:0051897 positive regulation of protein kinase B signaling

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005622 intracellular
GO:0042383 sarcolemma


-  Descriptions from all associated GenBank mRNAs
  X63454 - H.sapiens hst-2 (FGF-6) mRNA.
BC121097 - Homo sapiens fibroblast growth factor 6, mRNA (cDNA clone MGC:150383 IMAGE:40120069), complete cds.
BC121098 - Homo sapiens fibroblast growth factor 6, mRNA (cDNA clone MGC:150384 IMAGE:40120070), complete cds.
E04551 - DNA encoding human HST2 protein.
E04550 - DNA encoding human HST2 protein.
E04549 - DNA encoding human HST2 protein.
KJ896813 - Synthetic construct Homo sapiens clone ccsbBroadEn_06207 FGF6 gene, encodes complete protein.

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

Protein P10767 (Reactome details) participates in the following event(s):

R-HSA-190256 FGFR1c binds to FGF
R-HSA-2023451 FGFR1c P252X mutants bind ligand with enhanced affinity
R-HSA-190265 FGFR4 binds to FGF
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-190429 Autocatalytic phosphorylation of FGFR1c
R-HSA-2023455 Autocatalytic phosphorylation of FGFR1c P252X mutant dimers
R-HSA-2033472 FGFR2c mutants bind an expanded range of ligands
R-HSA-190326 Autocatalytic phosphorylation of FGFR4
R-HSA-2033488 Autocatalytic phosphorylation of FGFR2b mutants with enhanced ligand binding
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-5655269 Activated FGFR1 mutants bind FRS2
R-HSA-190413 Autocatalytic phosphorylation of FGFR2c
R-HSA-2033486 Autocatalytic phosphorylation of FGFR2c mutants with enhanced ligand binding
R-HSA-5654163 Activated FGFR4 binds PLCG1
R-HSA-5654422 Activated FGFR4 binds FRS2
R-HSA-5654425 Activated FGFR4 binds SHC1
R-HSA-5654651 Activated FGFR4 binds FRS3
R-HSA-5654169 p-4Y-PLCG1 dissociates from activated FGFR4
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-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-5655240 Activated FGFR1 mutants:p-FRS2 binds GRB2:GAB1:PIK3R1
R-HSA-5655266 Activated FGFR1 mutants:p-FRS2 binds GRB2-SOS1
R-HSA-5655278 Activated FGFR1 mutants phosphorylate FRS2
R-HSA-1839094 Activated FGFR1 mutants and fusions bind PLCG1
R-HSA-1839100 p-4Y- PLCG1 dissociates from activated FGFR1 mutants and fusions
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-5654151 Activated FGFR4 phosphorylates PLCG1
R-HSA-5654418 Activated FGFR4 phosphorylates FRS2
R-HSA-5654566 Activated ERK1/2 threonine-phosphorylates FGFR4-associated FRS2.
R-HSA-5654659 Activated FGFR4:p-FRS2 binds GRB2:GAB1:PIK3R1
R-HSA-5654653 Activated FGFR4 phosphorylates FRS3
R-HSA-5654428 Activated FGFR4 phosphorylates SHC1
R-HSA-5654423 Activated FGFR4: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-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-5655263 Activated FGFR1 mutants:p-FRS2:GRB2:GAB1:PIK3R1 binds PIK3CA
R-HSA-1839098 Activated FGFR1 mutants and fusions phosphorylate PLCG1
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-5654662 Activated FGFR4:p-FRS2:GRB2:GAB1:PI3KR1 binds PIK3CA
R-HSA-5654667 Activated FGFR4:p-FRS2:p-PPTN11 binds GRB2:GAB1:PI3KR1
R-HSA-5654734 p-CBL:GRB2 binds p-FRS2:activated FGFR4
R-HSA-5654658 Activated FGFR4:p-FRS bind to PPTN11
R-HSA-5654664 Activated FGFR4:p-FRS binds GRB2:SOS1
R-HSA-5655245 Activated FGFR2 mutants:p-FRS2:GRB2:GAB1:PIK3R1 binds PIK3CA
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-5655326 Activated FGFR1 mutants:p-FRS2: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-5654669 Activated FGFR4:p-FRS2:p-PPTN11:GRB2:GAB1:PIK3R1binds PIK3CA
R-HSA-5654684 CBL ubiquitinates FRS2 and FGFR4
R-HSA-5654655 Activated FGFR4 phosphorylates PPTN11
R-HSA-5654426 Activated FGFR4:p-SHC1:GRB2:SOS1 activates RAS nucleotide exchange
R-HSA-5655241 Activated FGFR2 mutants:p-FRS2:GRB2:SOS1 activates RAS nucleotide exchange
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-5655290 Activated FGFR1 mutant-associated PI3K phosphorylates PIP2 to PIP3
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-5654717 FGFR4-associated PI3K phosphorylates PIP2 to PIP3
R-HSA-5654663 Activated FGFR4:p-FRS2:GRB2:SOS1 activates RAS nucleotide exchange
R-HSA-5655323 Activated FGFR2 mutant-associated PI3K phosphorylates PIP2 to PIP3
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-5654714 FGFR4- and PTPN11-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-190373 FGFR1c ligand binding and activation
R-HSA-1839122 Signaling by activated point mutants of FGFR1
R-HSA-190375 FGFR2c ligand binding and activation
R-HSA-190322 FGFR4 ligand binding and activation
R-HSA-2033519 Activated point mutants of FGFR2
R-HSA-190242 FGFR1 ligand binding and activation
R-HSA-1839124 FGFR1 mutant receptor activation
R-HSA-190241 FGFR2 ligand binding and activation
R-HSA-5654743 Signaling by FGFR4
R-HSA-1839126 FGFR2 mutant receptor activation
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-5655302 Signaling by FGFR1 in disease
R-HSA-5654736 Signaling by FGFR1
R-HSA-5654738 Signaling by FGFR2
R-HSA-5654228 Phospholipase C-mediated cascade; FGFR4
R-HSA-5654712 FRS-mediated FGFR4 signaling
R-HSA-5654719 SHC-mediated cascade:FGFR4
R-HSA-190236 Signaling by FGFR
R-HSA-5655253 Signaling by FGFR2 in disease
R-HSA-5654726 Negative regulation of FGFR1 signaling
R-HSA-5654689 PI-3K cascade:FGFR1
R-HSA-1226099 Signaling by FGFR in disease
R-HSA-5654221 Phospholipase C-mediated cascade; FGFR2
R-HSA-5654700 FRS-mediated FGFR2 signaling
R-HSA-5654699 SHC-mediated cascade:FGFR2
R-HSA-5654733 Negative regulation of FGFR4 signaling
R-HSA-5654720 PI-3K cascade:FGFR4
R-HSA-5654716 Downstream signaling of activated FGFR4
R-HSA-9006934 Signaling by Receptor Tyrosine Kinases
R-HSA-5663202 Diseases of signal transduction
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-162582 Signal Transduction
R-HSA-1643685 Disease
R-HSA-5673001 RAF/MAP kinase cascade
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: ENST00000228837.1, ENST00000228837.2, FGF6_HUMAN, HST2, HSTF2, NM_020996, P10767, Q0VAE1, uc317dou.1, uc317dou.2
UCSC ID: ENST00000228837.3_6
RefSeq Accession: NM_020996.3
Protein: P10767 (aka FGF6_HUMAN)

-  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.