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

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; AllianceGenome:HGNC:3683
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: mouse all
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Genomic context

Location:: 4q21.21

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (80266588..80291017)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (83596964..83621396)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (81187742..81212171)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Fibroblast growth factor 5 as a target for atrial fibrillation treatment: Evidence from mendelian randomization.
Title: Fibroblast growth factor 5 as a target for atrial fibrillation treatment: Evidence from mendelian randomization.
Circ_0001715 Functions as a miR-1249-3p Sponge to Accelerate the Progression of Non-small Cell Lung Cancer via Upregulating the Level of FGF5.
Title: Circ_0001715 Functions as a miR-1249-3p Sponge to Accelerate the Progression of Non-small Cell Lung Cancer via Upregulating the Level of FGF5.
Improving the Efficiency of Precise Genome Editing with CRISPR/Cas9 to Generate Goats Overexpressing Human Butyrylcholinesterase.
Title: Improving the Efficiency of Precise Genome Editing with CRISPR/Cas9 to Generate Goats Overexpressing Human Butyrylcholinesterase.
FGF5 protects heart from sepsis injury by attenuating cardiomyocyte pyroptosis through inhibiting CaMKII/NFkappaB signaling.
Title: FGF5 protects heart from sepsis injury by attenuating cardiomyocyte pyroptosis through inhibiting CaMKII/NFκB signaling.
miR4913p functions as a tumor suppressor in nonsmall cell lung cancer by targeting fibroblast growth factor 5.
Title: miR‑491‑3p functions as a tumor suppressor in non‑small cell lung cancer by targeting fibroblast growth factor 5.
Genetic susceptibility analysis of FGF5 polymorphism to preeclampsia in Chinese Han population.
Title: Genetic susceptibility analysis of FGF5 polymorphism to preeclampsia in Chinese Han population.
The rs1458038 variant near FGF5 is associated with poor response to calcium channel blockers among Filipinos.
Title: The rs1458038 variant near FGF5 is associated with poor response to calcium channel blockers among Filipinos.
Hsa_circ_0016760 exacerbates the malignant development of nonsmall cell lung cancer by sponging miR1455p/FGF5.
Title: Hsa_circ_0016760 exacerbates the malignant development of non‑small cell lung cancer by sponging miR‑145‑5p/FGF5.
High Expression of FGF5 Is an Independent Prognostic Factor for Poor Overall Survival and Relapse-Free Survival in Lung Adenocarcinoma.
Title: High Expression of FGF5 Is an Independent Prognostic Factor for Poor Overall Survival and Relapse-Free Survival in Lung Adenocarcinoma.
Identifying Interactions between Dietary Sodium, Potassium, Sodium-Potassium Ratios, and FGF5 rs16998073 Variants and Their Associated Risk for Hypertension in Korean Adults.
Title: Identifying Interactions between Dietary Sodium, Potassium, Sodium-Potassium Ratios, and FGF5 rs16998073 Variants and Their Associated Risk for Hypertension in Korean Adults.

Submit: New GeneRIF Correction See all GeneRIFs (33)

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

Associated conditions

Description	Tests
Trichomegaly MedGen: C0854699 OMIM: 190330 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies eight loci associated with blood pressure. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension. 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

SHGC4-69 (e-PCR)
- UniSTS:2048

D8S2279 (e-PCR)
- UniSTS:473907

D4S3139 (e-PCR)
- UniSTS:78411

AB049870 (e-PCR)
- UniSTS:480103

D11S3114 (e-PCR)
- UniSTS:152207

SHGC-59544 (e-PCR)
- UniSTS:9105

SHGC-142438 (e-PCR)
- UniSTS:171457

NoName (e-PCR)
- UniSTS:482047

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 fibroblast growth factor receptor binding	IDA Inferred from Direct Assay more info	PubMed
enables growth factor activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in cell-cell signaling	TAS Traceable Author Statement more info	PubMed
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	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within fibroblast growth factor receptor signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in glial cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in nervous system development	TAS Traceable Author Statement more info	PubMed
involved_in neurogenesis	IBA Inferred from Biological aspect of Ancestor 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	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of cell population proliferation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of cell migration	IBA Inferred from Biological aspect of Ancestor more info
involved_in signal transduction involved in regulation of gene expression	IEA Inferred from Electronic Annotation 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

General protein information

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Preferred Names: fibroblast growth factor 5

Names: heparin-binding growth factor 5

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.

Genomic

NG_029501.1 RefSeqGene

Range

5077..29430

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001291812.2 → NP_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:1 → 75

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 ...
NM_004464.4 → NP_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)

AC021127

Consensus CDS

CCDS34021.1

UniProtKB/Swiss-Prot

B2R554, O75846, P12034, Q3Y8M3, Q8NF90

UniProtKB/TrEMBL

A0A7U3L5M4

Related

ENSP00000311697.7, ENST00000312465.12

Conserved Domains (1) summary

pfam00167
Location:87 → 216

FGF; Fibroblast growth factor
NM_033143.2 → NP_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/TrEMBL

Q6A549

Related

ENSP00000398353.3, ENST00000456523.3

Conserved Domains (1) summary

cl00060
Location:87 → 116

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 ...