FGF6 fibroblast growth factor 6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FGF6provided by HGNC
Official Full Name: fibroblast growth factor 6provided by HGNC
Primary source: HGNC:HGNC:3684
See related: Ensembl:ENSG00000111241 MIM:134921; AllianceGenome:HGNC:3684
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HST2; HBGF-6
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, 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]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 12p13.32

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (4434142..4445815, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (4440927..4452599, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (4543308..4554981, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

FGF6 promotes cardiac repair after myocardial infarction by inhibiting the Hippo pathway.
Title: FGF6 promotes cardiac repair after myocardial infarction by inhibiting the Hippo pathway.
Skeletal muscle-targeted delivery of Fgf6 protects mice from diet-induced obesity and insulin resistance.
Title: Skeletal muscle-targeted delivery of Fgf6 protects mice from diet-induced obesity and insulin resistance.
LINC00265 promotes the viability, proliferation, and migration of bladder cancer cells via the miR-4677-3p/FGF6 axis.
Title: LINC00265 promotes the viability, proliferation, and migration of bladder cancer cells via the miR-4677-3p/FGF6 axis.
FGF6 downregulation correlated with iron-metabolism dysfunction in systemic sclerosis and cancer.
Title: A gene-based recessive diplotype exome scan discovers FGF6, a novel hepcidin-regulating iron-metabolism gene.
These data demonstrate that FGF-6 may be considered a regulator of bone metabolism as shown by its activity on both osteoblasts and osteoclasts.
Title: Regulation of osteoblast and osteoclast functions by FGF-6.
FGF6 exhibits antitumor activity in vitro and correlates with expression of FGF receptors in medulloblastoma cells
Title: Antitumor activity of fibroblast growth factors (FGFs) for medulloblastoma may correlate with FGF receptor expression and tumor variant.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Common genetic variants associate with serum phosphorus concentration. EBI GWAS Catalog EBI GWAS CatalogPubMed
Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analyses in East Asians identify new susceptibility loci for colorectal cancer. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:214840 (e-PCR)
- UniSTS:156193

NoName (e-PCR)
- UniSTS:482119

NoName (e-PCR)
- UniSTS:480860

NoName (e-PCR)
- UniSTS:490467

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables fibroblast growth factor receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables growth factor activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in angiogenesis	IEA Inferred from Electronic Annotation more info
involved_in animal organ morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in cartilage condensation	IEA Inferred from Electronic Annotation more info
involved_in cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in fibroblast growth factor receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within fibroblast growth factor receptor signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in myoblast differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of MAPK cascade	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of cell division	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell population proliferation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within positive regulation of cell population proliferation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of gene expression	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of protein phosphorylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of cell migration	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in sarcolemma	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: fibroblast growth factor 6

Names: FGF-6; HST-2; HSTF-2; heparin secretory-transforming protein 2; heparin-binding growth factor 6

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.