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FGF5 fibroblast growth factor 5 [ Homo sapiens (human) ]

Gene ID: 2250, updated on 22-Aug-2020

Summary

Official Symbol
FGF5provided by HGNC
Official Full Name
fibroblast growth factor 5provided by HGNC
Primary source
HGNC:HGNC:3683
See related
Ensembl:ENSG00000138675 MIM:165190
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
HBGF-5; TCMGLY; Smag-82
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 was identified as an oncogene, which confers transforming potential when transfected into mammalian cells. Targeted disruption of the homolog of this gene in mouse resulted in the phenotype of abnormally long hair, which suggested a function as an inhibitor of hair elongation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Expression
Biased expression in gall bladder (RPKM 2.1), kidney (RPKM 0.5) and 2 other tissues See more
Orthologs

Genomic context

See FGF5 in Genome Data Viewer
Location:
4q21.21
Exon count:
4
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (80266588..80291017)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (81187742..81212171)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene CRISPRi-validated cis-regulatory element chr4.2006 Neighboring gene uncharacterized LOC105377303 Neighboring gene PR/SET domain 8 Neighboring gene mitochondrial ribosomal protein S25 pseudogene 1 Neighboring gene cilia and flagella associated protein 299 Neighboring gene zinc finger protein 341 pseudogene

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
Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia.
GeneReviews: Not available
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.
GeneReviews: Not available
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
GeneReviews: Not available
Genome-wide association study identifies eight loci associated with blood pressure.
GeneReviews: Not available
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
GeneReviews: Not available
Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.
GeneReviews: Not available
Trichomegaly
MedGen: C0854699 OMIM: 190330 GeneReviews: Not available
Compare labs

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 
fibroblast growth factor receptor binding IDA
Inferred from Direct Assay
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
 
Process Evidence Code Pubs
MAPK cascade TAS
Traceable Author Statement
more info
 
animal organ morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell-cell signaling TAS
Traceable Author Statement
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 IDA
Inferred from Direct Assay
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
 
glial cell differentiation IEA
Inferred from Electronic Annotation
more info
 
nervous system development TAS
Traceable Author Statement
more info
PubMed 
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 IDA
Inferred from Direct Assay
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 
signal transduction involved in regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
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 TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
fibroblast growth factor 5
Names
heparin-binding growth factor 5

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.

Genomic

  1. NG_029501.1 RefSeqGene

    Range
    5001..29430
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001291812.2NP_001278741.1  fibroblast growth factor 5 isoform 3

    See identical proteins and their annotated locations for NP_001278741.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 1. The resulting isoform (3) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AC021127, AK090557, BQ001160
    UniProtKB/TrEMBL
    Q8NBG6
    Conserved Domains (1) summary
    cl00060
    Location:175
    FGF; Acidic and basic fibroblast growth factor family; FGFs are mitogens, which stimulate growth or differentiation of cells of mesodermal or neuroectodermal origin. The family plays essential roles in patterning and differentiation during vertebrate ...
  2. NM_004464.3NP_004455.2  fibroblast growth factor 5 isoform 1 precursor

    See identical proteins and their annotated locations for NP_004455.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AA461028, AF171928, AK090557, BC074859, BG252761, BQ001160, DR004226
    Consensus CDS
    CCDS34021.1
    UniProtKB/Swiss-Prot
    P12034
    UniProtKB/TrEMBL
    Q8NBG6
    Related
    ENSP00000311697.7, ENST00000312465.11
    Conserved Domains (1) summary
    smart00442
    Location:85218
    FGF; Acidic and basic fibroblast growth factor family
  3. NM_033143.2NP_149134.1  fibroblast growth factor 5 isoform 2 precursor

    See identical proteins and their annotated locations for NP_149134.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an exon in the coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (2, also referred to as 'FGF-5S' or 'short isoform') is shorter and has a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AA461028, AF171928, AK090557, BG252761, BQ001160, DR004226
    Consensus CDS
    CCDS3586.1
    UniProtKB/Swiss-Prot
    P12034
    UniProtKB/TrEMBL
    Q8NBG6
    Related
    ENSP00000398353.3, ENST00000456523.3
    Conserved Domains (1) summary
    cl00060
    Location:87116
    FGF; Acidic and basic fibroblast growth factor family; FGFs are mitogens, which stimulate growth or differentiation of cells of mesodermal or neuroectodermal origin. The family plays essential roles in patterning and differentiation during vertebrate ...

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_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    80266588..80291017
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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