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

Gene ID: 2251, updated on 16-Sep-2020

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
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

Genomic context

See FGF6 in Genome Data Viewer
Location:
12p13.32
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (4434142..4445799, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (4543308..4554780, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein S15 pseudogene 7 Neighboring gene TP53 induced glycolysis regulatory phosphatase Neighboring gene fibroblast growth factor 23 Neighboring gene Sharpr-MPRA regulatory region 2870 Neighboring gene chromosome 12 open reading frame 4

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Common genetic variants associate with serum phosphorus concentration.
GeneReviews: Not available
Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines.
GeneReviews: Not available
Genome-wide association analyses in East Asians identify new susceptibility loci for colorectal cancer.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
fibroblast growth factor receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
growth factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
growth factor activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
MAPK cascade TAS
Traceable Author Statement
more info
 
angiogenesis IEA
Inferred from Electronic Annotation
more info
 
animal organ morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cartilage condensation IEA
Inferred from Electronic Annotation
more info
 
cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
fibroblast growth factor receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
fibroblast growth factor receptor signaling pathway IGI
Inferred from Genetic Interaction
more info
PubMed 
fibroblast growth factor receptor signaling pathway TAS
Traceable Author Statement
more info
 
myoblast differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell division IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell proliferation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of cell proliferation IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of gene expression IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of protein kinase B signaling TAS
Traceable Author Statement
more info
 
positive regulation of protein phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of cell migration IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular space IEA
Inferred from Electronic Annotation
more info
 
sarcolemma IEA
Inferred from Electronic Annotation
more info
 

General protein information

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)

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.

mRNA and Protein(s)

  1. NM_020996.3NP_066276.2  fibroblast growth factor 6 precursor

    See identical proteins and their annotated locations for NP_066276.2

    Status: REVIEWED

    Source sequence(s)
    AC008012
    Consensus CDS
    CCDS8527.1
    UniProtKB/Swiss-Prot
    P10767
    Related
    ENSP00000228837.2, ENST00000228837.2
    Conserved Domains (1) summary
    pfam00167
    Location:84205
    FGF; Fibroblast growth factor

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    4434142..4445799 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017018995.1XP_016874484.1  fibroblast growth factor 6 isoform X1

  2. XM_017018996.1XP_016874485.1  fibroblast growth factor 6 isoform X2

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