FGF6 Gene (Protein Coding)

Fibroblast Growth Factor 6

GC12M004413
GIFtS:
40
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 displayed oncogenic transforming activity when t... See more...

Aliases for FGF6 Gene

Aliases for FGF6 Gene

  • Fibroblast Growth Factor 6 2 3 4 5
  • Heparin Secretory-Transforming Protein 2 3 4
  • Heparin-Binding Growth Factor 6 3 4
  • HBGF-6 3 4
  • HSTF-2 3 4
  • FGF-6 3 4
  • HST-2 3 4
  • HST2 3 4
  • HSTF2 4
  • FGF6 5

External Ids for FGF6 Gene

Previous GeneCards Identifiers for FGF6 Gene

  • GC12M004280
  • GC12M004435
  • GC12M004422
  • GC12M004543

Summaries for FGF6 Gene

Entrez Gene Summary for FGF6 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 displayed oncogenic transforming activity when transfected into mammalian cells. The mouse homolog of this gene exhibits a restricted expression profile predominantly in the myogenic lineage, which suggested a role in muscle regeneration or differentiation. [provided by RefSeq, Jul 2008]

GeneCards Summary for FGF6 Gene

FGF6 (Fibroblast Growth Factor 6) is a Protein Coding gene. Diseases associated with FGF6 include Apert Syndrome and Breast Cancer. Among its related pathways are RET signaling and Signaling by FGFR2 in disease. Gene Ontology (GO) annotations related to this gene include growth factor activity and fibroblast growth factor receptor binding. An important paralog of this gene is FGF4.

UniProtKB/Swiss-Prot Summary for FGF6 Gene

  • Plays an important role in the regulation of cell proliferation, cell differentiation, angiogenesis and myogenesis, and is required for normal muscle regeneration.

Gene Wiki entry for FGF6 Gene

Additional gene information for FGF6 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FGF6 Gene

Genomics for FGF6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for FGF6 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH12J004445 Promoter 0.3 EPDnew 600.7 0.0 -36 0.1 FGF6 piR-33614-048 C12orf4
GH12J004444 Enhancer 0.2 Ensembl 600.7 +0.9 898 0.2 FGF6 piR-48373-003 FGF23
GH12J004443 Enhancer 0.2 Ensembl 600.7 +1.5 1498 0.2 FGF6 piR-48373-003 FGF23
GH12J004472 Enhancer 0.8 FANTOM5 Ensembl ENCODE 12.2 -26.3 -26302 2.6 IKZF1 SPI1 EBF1 ETV6 FGF6 piR-33614-048 piR-46002-100 C12orf4
GH12J004414 Enhancer 0.8 Ensembl ENCODE 11.5 +30.6 30551 1.1 POLR2A RAD21 HES1 MNT MYC RCOR1 ATF4 BHLHE40 ATF3 NRF1 FGF6 FGF23 C12orf4 RAD51AP1 lnc-FGF6-1 piR-32023-052
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FGF6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FGF6

Top Transcription factor binding sites by QIAGEN in the FGF6 gene promoter:
  • aMEF-2
  • AREB6
  • Hlf
  • Ik-3
  • LUN-1
  • MEF-2
  • MEF-2A
  • N-Myc
  • SRF
  • SRF (504 AA)

Genomic Locations for FGF6 Gene

Genomic Locations for FGF6 Gene
chr12:4,428,155-4,445,799
(GRCh38/hg38)
Size:
17,645 bases
Orientation:
Minus strand
chr12:4,537,321-4,554,780
(GRCh37/hg19)
Size:
17,460 bases
Orientation:
Minus strand

Genomic View for FGF6 Gene

Genes around FGF6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FGF6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FGF6 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for FGF6 Gene

Proteins for FGF6 Gene

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  • Protein details for FGF6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P10767-FGF6_HUMAN
    Recommended name:
    Fibroblast growth factor 6
    Protein Accession:
    P10767
    Secondary Accessions:
    • Q0VAE1

    Protein attributes for FGF6 Gene

    Size:
    208 amino acids
    Molecular mass:
    22905 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=CAA40359.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAA40360.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for FGF6 Gene

Post-translational modifications for FGF6 Gene

  • Glycosylation at Asn45
  • Modification sites at PhosphoSitePlus

Other Protein References for FGF6 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FGF6 Gene

Domains & Families for FGF6 Gene

Gene Families for FGF6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for FGF6 Gene

InterPro:
Blocks:
  • Heparin binding growth factor family signature
  • IL1/HBGF family signature
ProtoNet:

Suggested Antigen Peptide Sequences for FGF6 Gene

GenScript: Design optimal peptide antigens:
  • Heparin-binding growth factor 6 (FGF6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P10767

UniProtKB/Swiss-Prot:

FGF6_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 FGF6: view

Function for FGF6 Gene

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Molecular function for FGF6 Gene

UniProtKB/Swiss-Prot Function:
Plays an important role in the regulation of cell proliferation, cell differentiation, angiogenesis and myogenesis, and is required for normal muscle regeneration.
GENATLAS Biochemistry:
fibroblast growth factor 6,basic,HST oncogene homolog,expressed during embryonic development and in adult testis,heart,skeletal muscle,mitogenic for fibroblasts and endothelial cells

Phenotypes From GWAS Catalog for FGF6 Gene

Gene Ontology (GO) - Molecular Function for FGF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008083 growth factor activity TAS,IEA --
genes like me logo Genes that share ontologies with FGF6: view
genes like me logo Genes that share phenotypes with FGF6: view

Animal Models for FGF6 Gene

MGI Knock Outs for FGF6:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for FGF6 Gene

Localization for FGF6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FGF6 Gene

Secreted, extracellular space.

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 FGF6 gene
Compartment Confidence
extracellular 5
plasma membrane 3
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for FGF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IEA --
GO:0042383 sarcolemma IEA --
genes like me logo Genes that share ontologies with FGF6: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FGF6 Gene

Pathways & Interactions for FGF6 Gene

PathCards logo

SuperPathways for FGF6 Gene

SuperPathway Contained pathways
1 RET signaling
Frs2-mediated activation
.95
GRB2 events in EGFR signaling
.95
MAPK1/MAPK3 signaling
.95
Prolonged ERK activation events
.95
RAF/MAP kinase cascade
.95
SHC1 events in EGFR signaling
.95
Signaling by Leptin
.95
SOS-mediated signalling
.95
VEGFR2 mediated cell proliferation
.95
ARMS-mediated activation
.95
Signalling to ERKs
.95
Signalling to p38 via RIT and RIN
.95
Signalling to RAS
.95
Interleukin receptor SHC signaling
.95
Interleukin-3, 5 and GM-CSF signaling
.94
Interleukin-2 signaling
.94
Downstream signal transduction
.94
Signaling by PDGF
.94
DAP12 signaling
.92
RET signaling
.92
Insulin receptor signalling cascade
.92
Signaling by Insulin receptor
.92
IRS-mediated signalling
.91
Signaling by EGFR
.90
FCERI mediated MAPK activation
.90
IGF1R signaling cascade
.90
IRS-related events triggered by IGF1R
.90
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)
.90
DAP12 interactions
.89
NCAM signaling for neurite out-growth
.89
NGF signalling via TRKA from the plasma membrane
.87
MAPK family signaling cascades
.87
Signaling by SCF-KIT
.85
Signalling by NGF
.81
Fc epsilon receptor (FCERI) signaling
.79
VEGFA-VEGFR2 Pathway
.78
Signaling by VEGF
.76
Gastrin-CREB signalling pathway via PKC and MAPK
.55
2 Downstream signaling of activated FGFR2
FRS-mediated FGFR2 signaling
.85
SHC-mediated cascade-FGFR2
.85
Downstream signaling of activated FGFR2
.83
FRS-mediated FGFR1 signaling
.83
SHC-mediated cascade-FGFR1
.83
Downstream signaling of activated FGFR4
.81
FRS-mediated FGFR4 signaling
.81
PI-3K cascade-FGFR2
.77
PI-3K cascade-FGFR1
.76
Downstream signaling of activated FGFR1
.74
Activated point mutants of FGFR2
.01
FGFR2c ligand binding and activation
.01
FGFR4 ligand binding and activation
.01
Phospholipase C-mediated cascade- FGFR1
.01
Phospholipase C-mediated cascade; FGFR2
.01
Phospholipase C-mediated cascade; FGFR4
.01
PI-3K cascade-FGFR4
.01
SHC-mediated cascade-FGFR4
.01
3 Apoptotic Pathways in Synovial Fibroblasts
Cellular Apoptosis Pathway
.85
Mitochondrial Apoptosis
.85
Apoptotic Pathways in Synovial Fibroblasts
.84
p53 Mediated Apoptosis
.84
DHA Signaling
.74
Telomerase Components in Cell Signaling
.72
PPAR Pathway
.66
Rac1 Pathway
.65
Glioma Invasiveness
.64
Actin-Based Motility by Rho Family GTPases
.62
ERK5 Signaling
.61
eIF2 Pathway
.60
Rap1 Pathway
.57
Nuclear Receptor Activation by Vitamin-A
.57
4 GPCR Pathway
Paxillin Interactions
.73
Ras Pathway
.73
GPCR Pathway
.62
Pancreatic Adenocarcinoma
.59
Breast Cancer Regulation by Stathmin1
.58
NFAT in Immune Response
.58
Estrogen Pathway
.55
P2Y Receptor Signaling
.38
5 GAB1 signalosome
Negative regulation of the PI3K/AKT network
.93
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
.93
PIP3 activates AKT signaling
.91
Role of LAT2/NTAL/LAB on calcium mobilization
.91
GAB1 signalosome
.89
PI3K/AKT activation
.89
Constitutive Signaling by Aberrant PI3K in Cancer
.75
PI3K/AKT Signaling in Cancer
.72
genes like me logo Genes that share pathways with FGF6: view

Pathways by source for FGF6 Gene

1 PharmGKB pathway for FGF6 Gene
1 GeneGo (Thomson Reuters) pathway for FGF6 Gene
  • Development FGF-family signaling
59 Qiagen pathways for FGF6 Gene
  • 14-3-3 Induced Intracellular Signaling
  • Actin-Based Motility by Rho Family GTPases
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR
  • Activation of PKC through GPCR

SIGNOR curated interactions for FGF6 Gene

Activates:

Gene Ontology (GO) - Biological Process for FGF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0001502 cartilage condensation IEA --
GO:0001525 angiogenesis IEA --
GO:0007165 signal transduction IEA --
GO:0007275 multicellular organism development IEA --
genes like me logo Genes that share ontologies with FGF6: view

Drugs & Compounds for FGF6 Gene

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  1. Drug

(1) Drugs for FGF6 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Heparin Approved, Investigational Pharma Antagonist 1058
genes like me logo Genes that share compounds with FGF6: view

Transcripts for FGF6 Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for FGF6 Gene

1 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FGF6

Alternative Splicing Database (ASD) splice patterns (SP) for FGF6 Gene

No ASD Table

Relevant External Links for FGF6 Gene

GeneLoc Exon Structure for
FGF6

Expression for FGF6 Gene

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  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FGF6 Gene

mRNA expression in normal human tissues for FGF6 Gene
mRNA expression by GTEx for FGF6 GenemRNA expression by BioGPS for FGF6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FGF6 Gene

This gene is overexpressed in Muscle - Skeletal (x50.3).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FGF6

SOURCE GeneReport for Unigene cluster for FGF6 Gene:

Hs.166015

mRNA Expression by UniProt/SwissProt for FGF6 Gene:

P10767-FGF6_HUMAN
Tissue specificity: Leukemia cell lines with platelet/ megakaryocytic differentiation potential.

Evidence on tissue expression from TISSUES for FGF6 Gene

  • Muscle(2.7)
genes like me logo Genes that share expression patterns with FGF6: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for FGF6 Gene

Orthologs for FGF6 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FGF6 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia FGF6 30 31
  • 99.04 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia FGF6 30 31
  • 93.59 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia FGF6 30 31
  • 89.9 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Fgf6 30
  • 89.74 (n)
Mouse
(Mus musculus)
 Mammalia Fgf6 30 17 31
  • 88.62 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia FGF6 31
  • 80 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia FGF6 31
  • 63 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves FGF6 30 31
  • 65.21 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia FGF6 31
  • 68 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia fgf6 30
  • 65.95 (n)
Zebrafish
(Danio rerio)
 Actinopterygii fgf6b 31
  • 64 (a)
 OneToMany
fgf6a 31
  • 63 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.125 31
  • 24 (a)
 OneToMany
Species where no ortholog for FGF6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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 Vase (Ciona intestinalis)
  • 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 FGF6 Gene

ENSEMBL:
Gene Tree for FGF6 (if available)
TreeFam:
Gene Tree for FGF6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FGF6: view image

Paralogs for FGF6 Gene

Paralogs for FGF6 Gene

(13) SIMAP similar genes for FGF6 Gene using alignment to 2 proteins:

  • FGF6_HUMAN
  • H0YGZ9_HUMAN
genes like me logo Genes that share paralogs with FGF6: view

Variants for FGF6 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FGF6 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs11613495 - p.Val36Ala
rs17183529 - p.Ala63Val
rs17183778 - p.Arg191Trp
rs7961645 - p.Asp174Val

Additional dbSNP identifiers (rs#s) for FGF6 Gene

Structural Variations from Database of Genomic Variants (DGV) for FGF6 Gene

Variant ID Type Subtype PubMed ID
esv33276 CNV gain 17666407
nsv1040098 CNV gain 25217958
nsv475734 CNV novel sequence insertion 20440878
nsv483060 CNV loss 15286789
nsv557123 CNV gain 21841781
nsv585 CNV deletion 18451855

Variation tolerance for FGF6 Gene

Residual Variation Intolerance Score: 65% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.94; 74.53% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FGF6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FGF6

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FGF6 Gene

Disorders for FGF6 Gene

MalaCards: The human disease database

(3) MalaCards diseases for FGF6 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
apert syndrome
  • acrocephalosyndactyly, type i; acs1
breast cancer
  • breast lobular carcinoma
desmoid disease, hereditary
  • desmd
- elite association - COSMIC cancer census association via MalaCards
Search FGF6 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for FGF6

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Tumor Gene Database
(TGDB)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with FGF6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FGF6 Gene

Publications for FGF6 Gene

  1. Human hst-2 (FGF-6) oncogene: cDNA cloning and characterization. (PMID: 1549352) Iida S … Terada M (Oncogene 1992) 3 4 23
  2. Putative structure of the FGF6 gene product and role of the signal peptide. (PMID: 1886714) Coulier F … Birnbaum D (Oncogene 1991) 3 4 23
  3. Receptor specificity of the fibroblast growth factor family. The complete mammalian FGF family. (PMID: 16597617) Zhang X … Ornitz DM (The Journal of biological chemistry 2006) 2 3
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. Increased expression of fibroblast growth factor 6 in human prostatic intraepithelial neoplasia and prostate cancer. (PMID: 10945637) Ropiquet F … Ittmann M (Cancer research 2000) 3 23

ExternalLinks

View latest publications for FGF6 gene in Mastermind

Products for FGF6 Gene

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Sources for FGF6 Gene