Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2251
Gene name	Fibroblast growth factor 6
Gene symbol	FGF6
Synonyms (NCBI Gene)	HBGF-6HST2
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

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

MIM	HGNC	e!Ensembl
134921	3684	ENSG00000111241

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

Interactions

View interactions

	KEGG		Reactome
	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway Calcium signaling pathway PI3K-Akt signaling pathway Regulation of actin cytoskeleton Pathways in cancer Chemical carcinogenesis - receptor activation Melanoma Breast cancer Gastric cancer		PI3K Cascade PIP3 activates AKT signaling Signaling by activated point mutants of FGFR1 FGFR4 ligand binding and activation FGFR1c ligand binding and activation FGFR2c ligand binding and activation Activated point mutants of FGFR2 Constitutive Signaling by Aberrant PI3K in Cancer Phospholipase C-mediated cascade: FGFR1 Phospholipase C-mediated cascade; FGFR2 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

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)

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
AMYOTROPHIC LATERAL SCLEROSIS 1	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOTOR NEURON DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (22)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
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	BEFREE	23144874		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	23144874	Associate	★★★★★ ★☆☆☆☆ 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

FGF6 (fibroblast growth factor 6)