FGF21 Gene (Protein Coding)

Fibroblast Growth Factor 21

GC19P048772
GIFtS:
40
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 Ref... See more...

Aliases for FGF21 Gene

Aliases for FGF21 Gene

  • Fibroblast Growth Factor 21 2 3 4 5
  • FGF-21 4
  • FGF21 5

External Ids for FGF21 Gene

Previous GeneCards Identifiers for FGF21 Gene

  • GC19P049818
  • GC19P049626
  • GC19P053934
  • GC19P053950
  • GC19P053951
  • GC19P049259
  • GC19P045638
  • GC19P048756
  • GC19P048757
  • GC19P048764
  • GC19P048766
  • GC19P048769

Summaries for FGF21 Gene

Entrez Gene Summary for FGF21 Gene

  • 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]

GeneCards Summary for FGF21 Gene

FGF21 (Fibroblast Growth Factor 21) is a Protein Coding gene. Diseases associated with FGF21 include Hepatocellular Clear Cell Carcinoma and Acquired Lipodystrophy. Among its related pathways are Nanog in Mammalian ESC Pluripotency and Ras signaling pathway. Gene Ontology (GO) annotations related to this gene include growth factor activity and fibroblast growth factor receptor binding. An important paralog of this gene is FGF19.

UniProtKB/Swiss-Prot Summary for FGF21 Gene

  • Stimulates glucose uptake in differentiated adipocytes via the induction of glucose transporter SLC2A1/GLUT1 expression (but not SLC2A4/GLUT4 expression). Activity requires the presence of KLB.

Gene Wiki entry for FGF21 Gene

Additional gene information for FGF21 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FGF21 Gene

Genomics for FGF21 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for FGF21 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH19J048755 Promoter/Enhancer 1.1 EPDnew ENCODE 250.7 -0.2 -171 0.7 IKZF1 MYC CEBPA POLR2A ZIC2 NFIC YY1 CEBPB FEZF1 MAX FUT1 FGF21 piR-38429-016 lnc-FUT1-1 piR-45349-011 RASIP1 IZUMO1
GH19J048756 Promoter 0.8 EPDnew 250.7 +0.5 528 0.1 ATF3 YY1 CEBPB RXRA RAD21 HNF4A REST SP1 HLF TAF1 FUT1 FGF21 piR-38429-016 lnc-FUT1-1 piR-45349-011 lnc-BCAT2-1 BCAT2
GH19J048724 Enhancer 1.4 Ensembl ENCODE CraniofacialAtlas dbSUPER 12.5 -29.7 -29723 3.5 IKZF1 SIX5 ZNF580 ZNF592 ATF2 NFIC ZBTB10 ETS1 MBD2 ZEB1 FUT2 IZUMO1 PRR12 FGF21 FUT1 SEC1P DBP BCAT2 PRMT1 SNRNP70
GH19J048794 Promoter/Enhancer 1.9 Ensembl ENCODE CraniofacialAtlas dbSUPER 0.3 +40.3 40312 2.7 BCLAF1 ZNF207 ZNF654 MYC IKZF1 ZNF600 SIX5 JUND ZNF580 ZNF592 HSALNG0126911 RASIP1 NUCB1-AS1 PRR12 SNRNP70 IZUMO1 TULP2 MAMSTR FUT2 NUCB1
GH19J048768 Enhancer 1.3 Ensembl ENCODE dbSUPER 0.4 +16.3 16307 6.9 IKZF1 ZNF580 ZMYM3 CEBPA YY1 ZNF148 ARNT RAD51 NFATC3 THAP11 FUT2 IZUMO1 RASIP1 BCAT2 DKKL1 MAMSTR DBP SEC1P TULP2 NUCB1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FGF21 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FGF21

Top Transcription factor binding sites by QIAGEN in the FGF21 gene promoter:
  • ATF
  • MyoD
  • p300
  • PPAR-gamma1
  • PPAR-gamma2
  • STAT3

Genomic Locations for FGF21 Gene

Latest Assembly
chr19:48,755,524-48,758,333
(GRCh38/hg38)
Size:
2,810 bases
Orientation:
Plus strand

Previous Assembly
chr19:49,258,781-49,261,587
(GRCh37/hg19 by Entrez Gene)
Size:
2,807 bases
Orientation:
Plus strand

chr19:49,258,816-49,261,587
(GRCh37/hg19 by Ensembl)
Size:
2,772 bases
Orientation:
Plus strand

Genomic View for FGF21 Gene

Genes around FGF21 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FGF21 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FGF21 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for FGF21 Gene

Proteins for FGF21 Gene

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  • Protein details for FGF21 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NSA1-FGF21_HUMAN
    Recommended name:
    Fibroblast growth factor 21
    Protein Accession:
    Q9NSA1
    Secondary Accessions:
    • Q8N683

    Protein attributes for FGF21 Gene

    Size:
    209 amino acids
    Molecular mass:
    22300 Da
    Quaternary structure:
    • Interacts (via C-terminus) with KLB; this interaction is direct. Interacts with FGFR4.

    Three dimensional structures from OCA and Proteopedia for FGF21 Gene

neXtProt entry for FGF21 Gene

Post-translational modifications for FGF21 Gene

No Post-translational modifications

Other Protein References for FGF21 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for FGF21

No data available for DME Specific Peptides for FGF21 Gene

Domains & Families for FGF21 Gene

Gene Families for FGF21 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for FGF21 Gene

InterPro:
Blocks:
  • Heparin binding growth factor family signature
  • IL1/HBGF family signature

Suggested Antigen Peptide Sequences for FGF21 Gene

GenScript: Design optimal peptide antigens:
  • Fibroblast growth factor 21 (FGF21_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NSA1

UniProtKB/Swiss-Prot:

FGF21_HUMAN :
  • Belongs to the heparin-binding growth factors family.
Family:
  • Belongs to the heparin-binding growth factors family.
genes like me logo Genes that share domains with FGF21: view

Function for FGF21 Gene

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  6. Cell Lines for research

Molecular function for FGF21 Gene

UniProtKB/Swiss-Prot Function:
Stimulates glucose uptake in differentiated adipocytes via the induction of glucose transporter SLC2A1/GLUT1 expression (but not SLC2A4/GLUT4 expression). Activity requires the presence of KLB.

Phenotypes From GWAS Catalog for FGF21 Gene

Gene Ontology (GO) - Molecular Function for FGF21 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005104 fibroblast growth factor receptor binding IBA 21873635
GO:0005515 protein binding IPI 18829467
GO:0008083 growth factor activity IBA 21873635
genes like me logo Genes that share ontologies with FGF21: view
genes like me logo Genes that share phenotypes with FGF21: view

Animal Models for FGF21 Gene

MGI Knock Outs for FGF21:

Animal Models for research

miRNA for FGF21 Gene

miRTarBase miRNAs that target FGF21

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FGF21

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FGF21 Gene

Localization for FGF21 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FGF21 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FGF21 gene
Compartment Confidence
extracellular 5
mitochondrion 3
nucleus 3
plasma membrane 2
cytoskeleton 2
peroxisome 2
endoplasmic reticulum 2
cytosol 2
lysosome 2
endosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for FGF21 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS 10858549
GO:0005615 extracellular space IBA 21873635
GO:0005737 cytoplasm IBA 21873635
genes like me logo Genes that share ontologies with FGF21: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FGF21 Gene

Pathways & Interactions for FGF21 Gene

PathCards logo

SuperPathways for FGF21 Gene

SuperPathway Contained pathways
1 Apoptotic Pathways in Synovial Fibroblasts
Cellular Apoptosis Pathway
.85
Mitochondrial Apoptosis
.85
Apoptotic Pathways in Synovial Fibroblasts
.84
p53 Mediated Apoptosis
.84
DHA Signaling
.74
Telomerase Components in Cell Signaling
.72
PPAR Pathway
.66
Rac1 Pathway
.65
Glioma Invasiveness
.64
Actin-Based Motility by Rho Family GTPases
.62
ERK5 Signaling
.61
eIF2 Pathway
.60
Rap1 Pathway
.57
Nuclear Receptor Activation by Vitamin-A
.57
2 GPCR Pathway
Paxillin Interactions
.73
Ras Pathway
.73
GPCR Pathway
.62
Pancreatic Adenocarcinoma
.59
Breast Cancer Regulation by Stathmin1
.58
NFAT in Immune Response
.58
Estrogen Pathway
.55
P2Y Receptor Signaling
.38
3 TGF-Beta Pathway
MAPK Family Pathway
.60
TGF-Beta Pathway
.60
JAK-STAT Pathway
.57
JNK Pathway
.51
Regulation of eIF4 and p70S6K
.43
SOCS Pathway
.40
4 ERK Signaling
ERK Signaling
.61
Rho Family GTPases
.61
MAPK Signaling
.58
Molecular Mechanisms of Cancer
.51
ILK Signaling
.49
5 Nanog in Mammalian ESC Pluripotency
GSK3 Signaling
.61
Nanog in Mammalian ESC Pluripotency
.61
14-3-3 Induced Intracellular Signaling
.59
eNOS Signaling
.48
genes like me logo Genes that share pathways with FGF21: view

Pathways by source for FGF21 Gene

59 Qiagen pathways for FGF21 Gene
  • 14-3-3 Induced Intracellular Signaling
  • Actin-Based Motility by Rho Family GTPases
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR
  • Activation of PKC through GPCR

SIGNOR curated interactions for FGF21 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for FGF21 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001934 positive regulation of protein phosphorylation IBA 21873635
GO:0007165 signal transduction TAS 10858549
GO:0007267 cell-cell signaling TAS 10858549
GO:0008284 positive regulation of cell proliferation IBA 21873635
GO:0008543 fibroblast growth factor receptor signaling pathway IBA 21873635
genes like me logo Genes that share ontologies with FGF21: view

Drugs & Compounds for FGF21 Gene

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  1. Drug products for research

(7) Drugs for FGF21 Gene - From: ClinicalTrials

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ethanol Approved Pharma 3544
Tyrosine Approved, Investigational Nutra 1149
Anti-Infective Agents Pharma 23293
Anti-Infective Agents, Local Pharma 1567
Liver Extracts Pharma 6237

(2) Additional Compounds for FGF21 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with FGF21: view

Transcripts for FGF21 Gene

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mRNA/cDNA for FGF21 Gene

1 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FGF21

Alternative Splicing Database (ASD) splice patterns (SP) for FGF21 Gene

No ASD Table

Relevant External Links for FGF21 Gene

GeneLoc Exon Structure for
FGF21

Expression for FGF21 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FGF21 Gene

mRNA expression in normal human tissues for FGF21 Gene
mRNA expression by BioGPS for FGF21 GenemRNA expression by GTEx for FGF21 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FGF21 Gene

This gene is overexpressed in Liver (x51.4).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FGF21

SOURCE GeneReport for Unigene cluster for FGF21 Gene:

Hs.283015

Evidence on tissue expression from TISSUES for FGF21 Gene

  • Lung(4.2)
  • Liver(3.2)
  • Pancreas(2.6)
  • Muscle(2.6)
  • Blood(2.5)
  • Nervous system(2.2)
  • Heart(2.2)
  • Intestine(2)
  • Skin(2)
  • Kidney(2)
genes like me logo Genes that share expression patterns with FGF21: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FGF21 Gene

Orthologs for FGF21 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FGF21 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia FGF21 29 30
  • 98.88 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia FGF21 29 30
  • 83.09 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia FGF21 29 30
  • 81.66 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Fgf21 29 16 30
  • 80.13 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Fgf21 29
  • 77.62 (n)
Lizard
(Anolis carolinensis)
 Reptilia FGF21 30
  • 38 (a)
 OneToOne
Zebrafish
(Danio rerio)
 Actinopterygii fgf21 30
  • 31 (a)
 OneToOne
Species where no ortholog for FGF21 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for FGF21 Gene

ENSEMBL:
Gene Tree for FGF21 (if available)
TreeFam:
Gene Tree for FGF21 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FGF21: view image
Alliance of Genome Resources:
Additional Orthologs for FGF21

Paralogs for FGF21 Gene

Paralogs for FGF21 Gene

(1) SIMAP similar genes for FGF21 Gene using alignment to 1 proteins:

  • FGF21_HUMAN
genes like me logo Genes that share paralogs with FGF21: view

Variants for FGF21 Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FGF21 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
rs140856933 Likely Benign: not provided 48,756,245(+) G/A
NM_019113.4(FGF21):c.9G>A (p.Ser3=) 		SYNONYMOUS
rs199499120 Likely Benign: not provided 48,758,034(+) G/T
NM_019113.4(FGF21):c.444G>T (p.Gly148=) 		SYNONYMOUS
rs41308770 Benign: not provided 48,756,248(+) C/T
NM_019113.4(FGF21):c.12C>T (p.Asp4=) 		SYNONYMOUS
rs838130 Benign: not provided 48,758,211(+) C/T
NM_019113.4(FGF21):c.621C>T (p.Tyr207=) 		SYNONYMOUS
rs41308776 -- p.Gly141Ser

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for FGF21 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for FGF21 Gene

Variant ID Type Subtype PubMed ID
esv2718686 CNV deletion 23290073
esv2718687 CNV deletion 23290073
esv2718688 CNV deletion 23290073
esv2718689 CNV deletion 23290073
nsv833855 CNV loss 17160897
nsv9739 CNV gain+loss 18304495

Variation tolerance for FGF21 Gene

Residual Variation Intolerance Score: 83.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.60; 12.93% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FGF21 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FGF21
Leiden Open Variation Database (LOVD)
FGF21

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FGF21 Gene

Disorders for FGF21 Gene

MalaCards: The human disease database

(16) MalaCards diseases for FGF21 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
hepatocellular clear cell carcinoma
  • clear cell carcinoma of the liver cells
acquired lipodystrophy
non-alcoholic fatty liver disease
  • nafld
mitochondrial myopathy
  • mitochondrial cytopathy
monckeberg arteriosclerosis
  • monckeberg medial calcific sclerosis
- elite association - COSMIC cancer census association via MalaCards
Search FGF21 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for FGF21

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with FGF21: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FGF21 Gene

Publications for FGF21 Gene

  1. Different roles of N- and C- termini in the functional activity of FGF21. (PMID: 19117008) Micanovic R … Kharitonenkov A (Journal of cellular physiology 2009) 3 4 22
  2. Identification of a novel FGF, FGF-21, preferentially expressed in the liver. (PMID: 10858549) Nishimura T … Itoh N (Biochimica et biophysica acta 2000) 2 3 4
  3. Regulation of FGF21 expression and secretion by retinoic acid receptor-related orphan receptor alpha. (PMID: 20332535) Wang Y … Burris TP (The Journal of biological chemistry 2010) 3 22
  4. FGF21 signalling pathway and metabolic traits - genetic association analysis. (PMID: 20717167) Kaess BM … Tomaszewski M (European journal of human genetics : EJHG 2010) 3 40
  5. Fibroblast growth factor-21 may mediate growth hormone resistance in anorexia nervosa. (PMID: 19926712) Fazeli PK … Klibanski A (The Journal of clinical endocrinology and metabolism 2010) 3 22

ExternalLinks

View latest publications for FGF21 gene in Mastermind

Products for FGF21 Gene

Sources for FGF21 Gene