FGF21 fibroblast growth factor 21 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FGF21provided by HGNC
Official Full Name: fibroblast growth factor 21provided by HGNC
Primary source: HGNC:HGNC:3678
See related: Ensembl:ENSG00000105550 MIM:609436; AllianceGenome:HGNC:3678
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
Summary: Theis gene encodes 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. This protein is a secreted endocrine factor that functions as a major metabolic regulator. The encoded protein stimulates the uptake of glucose in adipose tissue. [provided by RefSeq, Mar 2016]
Expression: Restricted expression toward liver (RPKM 3.0) See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.33

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (48755524..48758330)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (51749989..51752722)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (49258781..49261587)

Chromosome 19 - NC_000019.10 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: 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?

Inflammatory cytokines and oral lichen planus: a Mendelian randomization study.
Title: Inflammatory cytokines and oral lichen planus: a Mendelian randomization study.
Association of circulating fibroblast growth factor 21 levels with all-cause and cardiovascular mortality: The multi-ethnic study of atherosclerosis.
Title: Association of circulating fibroblast growth factor 21 levels with all-cause and cardiovascular mortality: The multi-ethnic study of atherosclerosis.
Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation.
Title: Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation.
Maternal overweight and obesity modify the association of serum fibroblast growth factor 21 levels with gestational diabetes mellitus: A nested case-control study.
Title: Maternal overweight and obesity modify the association of serum fibroblast growth factor 21 levels with gestational diabetes mellitus: A nested case-control study.
Critical role of FGF21 in diabetic kidney disease: from energy metabolism to innate immunity.
Title: Critical role of FGF21 in diabetic kidney disease: from energy metabolism to innate immunity.
Fibroblast Growth Factor 21 Relieves Lipopolysaccharide-Induced Acute Lung Injury by Suppressing JAK2/STAT3 Signaling Pathway.
Title: Fibroblast Growth Factor 21 Relieves Lipopolysaccharide-Induced Acute Lung Injury by Suppressing JAK2/STAT3 Signaling Pathway.
Protein biomarkers GDF15 and FGF21 to differentiate mitochondrial hepatopathies from other pediatric liver diseases.
Title: Protein biomarkers GDF15 and FGF21 to differentiate mitochondrial hepatopathies from other pediatric liver diseases.
Fibroblast growth factor-21 alleviates proteasome injury via activation of autophagy flux in Parkinson's disease.
Title: Fibroblast growth factor-21 alleviates proteasome injury via activation of autophagy flux in Parkinson's disease.
Fibroblast growth factor-21 and Visfatin as potential predictors for metabolic risk factors in obese children.
Title: Fibroblast growth factor-21 and Visfatin as potential predictors for metabolic risk factors in obese children.
Increased circulating FGF21 level predicts the burden of metabolic demands and risk of vascular diseases in adults with type 2 diabetes.
Title: Increased circulating FGF21 level predicts the burden of metabolic demands and risk of vascular diseases in adults with type 2 diabetes.

Submit: New GeneRIF Correction See all GeneRIFs (398)

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 loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis of observational studies shows common genetic variants associated with macronutrient intake. EBI GWAS Catalog EBI GWAS CatalogPubMed
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel locus including FGF21 is associated with dietary macronutrient intake. 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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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 animal organ morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell-cell signaling	TAS Traceable Author Statement more info	PubMed
involved_in cellular response to glucagon stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to glucose stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to low-density lipoprotein particle stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info
involved_in endoplasmic reticulum unfolded protein response	IEA Inferred from Electronic Annotation more info
involved_in endothelial cell apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in fibroblast growth factor receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of endothelial cell apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of ERK1 and ERK2 cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of MAPK cascade	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell population proliferation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of cold-induced thermogenesis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in positive regulation of gene expression	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of glucose import	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of positive regulation of low-density lipoprotein receptor activity	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of protein phosphorylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of triglyceride catabolic process	IEA Inferred from Electronic Annotation more info
involved_in regulation of cell migration	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of regulation of low-density lipoprotein particle clearance	NAS Non-traceable Author Statement more info	PubMed
involved_in response to activity	IEA Inferred from Electronic Annotation more info
involved_in response to methionine	IEA Inferred from Electronic Annotation more info
involved_in response to nutrient levels	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed

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	PubMed
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 21

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_033945.1 RefSeqGene

Range

4438..7244

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_019113.4 → NP_061986.1 fibroblast growth factor 21 precursor

See identical proteins and their annotated locations for NP_061986.1

Status: REVIEWED

Source sequence(s)

AC009002, BC018404

Consensus CDS

CCDS12734.1

UniProtKB/Swiss-Prot

Q8N683, Q9NSA1

UniProtKB/TrEMBL

A0A7U3L5M7

Related

ENSP00000471477.1, ENST00000593756.6

Conserved Domains (1) summary

cl00060
Location:47 → 159

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 ...