FGF6 (fibroblast growth factor 6)

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Gene Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 2251
• Gene name: Fibroblast growth factor 6
• Gene symbol: FGF6
• Synonyms (NCBI Gene): HBGF-6, HST2
• Chromosome: 12
• Chromosome location: 12p13.32
• 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, cel

Gene ontology (GO) Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001502	Process	Cartilage condensation	IEA
GO:0001525	Process	Angiogenesis	IEA
GO:0005104	Function	Fibroblast growth factor receptor binding	IBA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS	2649847
GO:0005615	Component	Extracellular space	IBA
GO:0005737	Component	Cytoplasm	IBA
GO:0008083	Function	Growth factor activity	IBA
GO:0008083	Function	Growth factor activity	IEA
GO:0008083	Function	Growth factor activity	TAS	2649847
GO:0008284	Process	Positive regulation of cell population proliferation	IBA
GO:0008284	Process	Positive regulation of cell population proliferation	IGI	8663044
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	IBA
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	IEA
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	IGI	8663044
GO:0022008	Process	Neurogenesis	IBA
GO:0030154	Process	Cell differentiation	IEA
GO:0030334	Process	Regulation of cell migration	IBA
GO:0042383	Component	Sarcolemma	IEA
GO:0043410	Process	Positive regulation of MAPK cascade	IBA
GO:0045445	Process	Myoblast differentiation	IEA
GO:0051781	Process	Positive regulation of cell division	IEA

Other IDs

• MIM: 134921
• HGNC: 3684
• e!Ensembl: ENSG00000111241

Protein

• UniProt ID: P10767
• Protein name: Fibroblast growth factor 6 (FGF-6) (Heparin secretory-transforming protein 2) (HST-2) (HSTF-2) (Heparin-binding growth factor 6) (HBGF-6)
• Protein function: Plays an important role in the regulation of cell proliferation, cell differentiation, angiogenesis and myogenesis, and is required for normal muscle regeneration.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00167	FGF	84 → 205	Fibroblast growth factor	Domain

• Tissue specificity: TISSUE SPECIFICITY: Leukemia cell lines with platelet/ megakaryocytic differentiation potential.
• Sequence:

  MALGQKLFITMSRGAGRLQGTLWALVFLGILVGMVVPSPAGTRANNTLLDSRGWGTLLSR
  SRAGLAGEIAGVNWESGYLVGIKRQRRLYCNVGIGFHLQVLPDGRISGTHEENPYSLLEI
  STVERGVVSLFGVRSALFVAMNSKGRLYATPSFQEECKFRETLLPNNYNAYESDLYQGTY
  IALSKYGRVKRGSKVSPIMTVTHFLPRI

• Sequence length: 208

Pathways

KEGG Pathway	Reactome Pathway
MAPK signaling pathway	PI3K Cascade
Ras signaling pathway	PIP3 activates AKT signaling
Rap1 signaling pathway	Signaling by activated point mutants of FGFR1
Calcium signaling pathway	FGFR4 ligand binding and activation
PI3K-Akt signaling pathway	FGFR1c ligand binding and activation
Regulation of actin cytoskeleton	FGFR2c ligand binding and activation
Pathways in cancer	Activated point mutants of FGFR2
Chemical carcinogenesis - receptor activation	Constitutive Signaling by Aberrant PI3K in Cancer
Melanoma	Phospholipase C-mediated cascade: FGFR1
Breast cancer	Phospholipase C-mediated cascade; FGFR2
Gastric cancer	Phospholipase C-mediated cascade; FGFR4
	Downstream signaling of activated FGFR1
	SHC-mediated cascade:FGFR1
	PI-3K cascade:FGFR1
	FRS-mediated FGFR1 signaling
	PI-3K cascade:FGFR2
	SHC-mediated cascade:FGFR2
	FRS-mediated FGFR2 signaling
	FRS-mediated FGFR4 signaling
	SHC-mediated cascade:FGFR4
	PI-3K cascade:FGFR4
	Negative regulation of FGFR1 signaling
	Negative regulation of FGFR2 signaling
	Negative regulation of FGFR4 signaling
	Signaling by FGFR2 in disease
	Signaling by FGFR1 in disease
	RAF/MAP kinase cascade
	PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
AMYOTROPHIC LATERAL SCLEROSIS 1	—	CTD, Disgenet CTD, Disgenet	11796754	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	23793025, 27182965, 27322543, 34294844, 35115687, 36939796	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOTOR NEURON DISEASE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	30019117	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	35551307, 38374256	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (22)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
AMYOTROPHIC LATERAL SCLEROSIS 1	Lateral Sclerosis	CTD_human_DG	11796754		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis, Familial	Amyotrophic lateral sclerosis	CTD_human_DG	11796754		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic	Lateral Sclerosis	CTD_human_DG	11796754		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	8391386		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	30836094	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21750708	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	31260189		★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	Pubtator	30814063	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	21750708		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	21750708	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	17697126		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21750708		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	LHGDN	11801566		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	1549352		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	23144874	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	23144874		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	36031605	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	17697126		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	37279148	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor Predisposition Syndrome 1	Rhabdoid tumor predisposition syndrome	Pubtator	37726478	Associate	★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	30814063	Associate	★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	30814063		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

FMO1 1 shared diseaseMotor neuron disease 3 shared evidence sourcesDisgenet (Amyotrophic lateral sclerosis), CTD (Amyotrophic lateral sclerosis), Disgenet (Motor neuron disease) Related via 1 shared disease including Motor neuron disease — evidence mostly Disgenet. GBX2 1 shared diseaseMotor neuron disease 3 shared evidence sourcesDisgenet (Amyotrophic lateral sclerosis), CTD (Amyotrophic lateral sclerosis), Disgenet (Motor neuron disease) Related via 1 shared disease including Motor neuron disease — evidence mostly Disgenet. CD7 1 shared diseaseMotor neuron disease 3 shared evidence sourcesDisgenet (Amyotrophic lateral sclerosis), CTD (Amyotrophic lateral sclerosis), Disgenet (Motor neuron disease) Related via 1 shared disease including Motor neuron disease — evidence mostly Disgenet. HSF1 1 shared diseaseMotor neuron disease 3 shared evidence sourcesDisgenet (Amyotrophic lateral sclerosis), CTD (Amyotrophic lateral sclerosis), Disgenet (Motor neuron disease) Related via 1 shared disease including Motor neuron disease — evidence mostly Disgenet. TMSB4X 1 shared diseaseMotor neuron disease 1 shared pathwayRegulation of actin cytoskeleton 3 shared evidence sourcesDisgenet (Amyotrophic lateral sclerosis), CTD (Amyotrophic lateral sclerosis), Disgenet (Motor neuron disease) Related via 1 shared disease including Motor neuron disease — evidence mostly Disgenet.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
FMO1	1	["Motor neuron disease"]	0	[]	3	["Disgenet (Amyotrophic lateral sclerosis)","CTD (Amyotrophic lateral sclerosis)","Disgenet (Motor neuron disease)"]
GBX2	1	["Motor neuron disease"]	0	[]	3	["Disgenet (Amyotrophic lateral sclerosis)","CTD (Amyotrophic lateral sclerosis)","Disgenet (Motor neuron disease)"]
CD7	1	["Motor neuron disease"]	0	[]	3	["Disgenet (Amyotrophic lateral sclerosis)","CTD (Amyotrophic lateral sclerosis)","Disgenet (Motor neuron disease)"]
HSF1	1	["Motor neuron disease"]	0	[]	3	["Disgenet (Amyotrophic lateral sclerosis)","CTD (Amyotrophic lateral sclerosis)","Disgenet (Motor neuron disease)"]
TMSB4X	1	["Motor neuron disease"]	1	["Regulation of actin cytoskeleton"]	3	["Disgenet (Amyotrophic lateral sclerosis)","CTD (Amyotrophic lateral sclerosis)","Disgenet (Motor neuron disease)"]

Diseases Linked via Similar Genes

Autism Linked via 1 of 5 related genesFMO1 Thyroid gland neoplasms Linked via 1 of 5 related genesCD7 Huntington disease Linked via 1 of 5 related genesHSF1 Asthma Linked via 1 of 5 related genesTMSB4X Celiac disease Linked via 1 of 5 related genesTMSB4X

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Autism	1	["FMO1"]
Thyroid gland neoplasms	1	["CD7"]
Huntington disease	1	["HSF1"]
Asthma	1	["TMSB4X"]
Celiac disease	1	["TMSB4X"]