FGF2

fibroblast growth factor 2, the group of Receptor ligands|Fibroblast growth factor family

Basic information

Region (hg38): 4:122826681-122898236

Previous symbols: [ "FGFB" ]

Links

ENSG00000138685 ∙ NCBI:2247 ∙ OMIM:134920 ∙ HGNC:3676 ∙ Uniprot:P09038 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FGF2 gene.

• Inborn genetic diseases (8 variants)
• not provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FGF2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2		2
missense			5	1		6
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			3			3
Total	0	0	8	3	0

Variants in FGF2

This is a list of pathogenic ClinVar variants found in the FGF2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
4-122826864-A-G		not specified	Uncertain significance (Feb 02, 2024)
4-122826956-G-A		not specified	Uncertain significance (Jan 22, 2024)
4-122826977-C-G		not specified	Uncertain significance (Dec 18, 2023)
4-122827013-G-A		not specified	Uncertain significance (Dec 19, 2022)
4-122827046-G-A		not specified	Uncertain significance (Nov 21, 2022)
4-122827066-C-G			Likely benign (Nov 01, 2023)
4-122827101-G-A		Long QT syndrome	Likely benign (-)
4-122827109-C-T		not specified	Uncertain significance (Feb 28, 2023)
4-122827149-G-A		not specified	Uncertain significance (Dec 28, 2022)
4-122827273-C-T			Likely benign (Apr 25, 2018)
4-122876325-G-T			Likely benign (Aug 14, 2018)
4-122892221-C-T		not specified	Uncertain significance (Oct 05, 2023)
4-122892265-A-G		not specified	Uncertain significance (May 10, 2022)
4-122892274-C-T		not specified	Uncertain significance (Nov 10, 2022)
4-122892388-A-C		not specified	Uncertain significance (Jan 17, 2024)
4-122893009-G-A		NUDT6-related disorder	Benign (Jan 17, 2020)
4-122893015-G-A		NUDT6-related disorder	Likely benign (Aug 21, 2022)
4-122893077-G-T		not specified	Uncertain significance (Jan 08, 2024)
4-122893166-C-A		not specified	Uncertain significance (Jan 23, 2023)
4-122893167-G-A		NUDT6-related disorder	Likely benign (Sep 09, 2019)
4-122893210-C-T		not specified	Uncertain significance (Dec 15, 2022)
4-122893230-G-T		NUDT6-related disorder	Benign (Aug 10, 2019)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FGF2	protein_coding	protein_coding	ENST00000264498	3	71529

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0184	0.904	125737	0	11	125748	0.0000437

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.937	95	124	0.764	0.00000615	1763
Missense in Polyphen		25	38.556	0.6484		458
Synonymous	-0.0366	52	51.7	1.01	0.00000243	661
Loss of Function	1.49	4	8.78	0.456	5.71e-7	99

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000116	0.000116
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.0000467	0.0000462
European (Non-Finnish)	0.0000355	0.0000352
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Acts as a ligand for FGFR1, FGFR2, FGFR3 and FGFR4 (PubMed:8663044). Also acts as an integrin ligand which is required for FGF2 signaling (PubMed:28302677). Binds to integrin ITGAV:ITGB3 (PubMed:28302677). Plays an important role in the regulation of cell survival, cell division, cell differentiation and cell migration (PubMed:8663044, PubMed:28302677). Functions as a potent mitogen in vitro (PubMed:3732516, PubMed:3964259). Can induce angiogenesis (PubMed:23469107, PubMed:28302677). {ECO:0000269|PubMed:1721615, ECO:0000269|PubMed:23469107, ECO:0000269|PubMed:28302677, ECO:0000269|PubMed:3732516, ECO:0000269|PubMed:3964259, ECO:0000269|PubMed:8663044}.
• Pathway: PI3K-Akt signaling pathway - Homo sapiens (human);Gastric cancer - Homo sapiens (human);Kaposi,s sarcoma-associated herpesvirus infection - Homo sapiens (human);Melanoma - Homo sapiens (human);Breast cancer - Homo sapiens (human);Regulation of actin cytoskeleton - Homo sapiens (human);Signaling pathways regulating pluripotency of stem cells - Homo sapiens (human);Rap1 signaling pathway - Homo sapiens (human);Ras signaling pathway - Homo sapiens (human);MAPK signaling pathway - Homo sapiens (human);Proteoglycans in cancer - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);VEGF Signaling Pathway;Angiogenesis;MicroRNAs in cardiomyocyte hypertrophy;miR-targeted genes in lymphocytes - TarBase;miR-targeted genes in muscle cell - TarBase;miR-targeted genes in squamous cell - TarBase;Neural Crest Differentiation;Cardiac Progenitor Differentiation;Cardiac Hypertrophic Response;Differentiation Pathway;POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation;MECP2 and Associated Rett Syndrome;Lung fibrosis;MAPK Signaling Pathway;ESC Pluripotency Pathways;Focal Adhesion-PI3K-Akt-mTOR-signaling pathway;Interleukin-4 and 13 signaling;Endometrial cancer;PI3K-Akt Signaling Pathway;Endochondral Ossification;Regulation of Actin Cytoskeleton;Developmental Biology;FGFR2b ligand binding and activation;FGFR2c ligand binding and activation;FGFR2 ligand binding and activation;FRS-mediated FGFR2 signaling;Negative regulation of FGFR2 signaling;Signaling by FGFR2;Phospholipase C-mediated cascade; FGFR2;FGFR3c ligand binding and activation;SHC-mediated cascade:FGFR2;FRS-mediated FGFR3 signaling;PI-3K cascade:FGFR2;Downstream signaling of activated FGFR2;SHC-mediated cascade:FGFR3;PI-3K cascade:FGFR4;PI-3K cascade:FGFR3;Downstream signaling of activated FGFR3;Disease;Negative regulation of FGFR3 signaling;Signaling by FGFR3;FGFR4 ligand binding and activation;Signal Transduction;FRS-mediated FGFR4 signaling;SHC-mediated cascade:FGFR4;Downstream signaling of activated FGFR4;Negative regulation of FGFR4 signaling;Signaling by FGFR4;Signaling by FGFR;FGFR3 ligand binding and activation;FGFR3 mutant receptor activation;PI3K Cascade;IRS-mediated signalling;Insulin receptor signalling cascade;Activated point mutants of FGFR2;Signaling by Insulin receptor;GPCR signaling-G alpha q;GPCR signaling-cholera toxin;GPCR signaling-pertussis toxin;Extracellular matrix organization;Signaling by FGFR2 IIIa TM;FGF;Signaling by FGFR2 in disease;GPCR signaling-G alpha s Epac and ERK;POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation;GPCR signaling-G alpha s PKA and ERK;Signaling by activated point mutants of FGFR3;RAF/MAP kinase cascade;MAPK1/MAPK3 signaling;MAPK family signaling cascades;PIP3 activates AKT signaling;Posttranslational regulation of adherens junction stability and dissassembly;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Negative regulation of the PI3K/AKT network;Angiopoietin receptor Tie2-mediated signaling;FGFR2 mutant receptor activation;Syndecan interactions;Signaling by FGFR3 point mutants in cancer;Transcriptional regulation of pluripotent stem cells;Non-integrin membrane-ECM interactions;Signaling by FGFR3 in disease;Signaling by FGFR in disease;Constitutive Signaling by Aberrant PI3K in Cancer;PI3K/AKT Signaling in Cancer;GPCR signaling-G alpha i;IRS-related events triggered by IGF1R;IGF1R signaling cascade;Signaling by activated point mutants of FGFR1;FGFR1 mutant receptor activation;Signaling by FGFR1 in disease;Signaling by Receptor Tyrosine Kinases;Intracellular signaling by second messengers;Phospholipase C-mediated cascade: FGFR1;Diseases of signal transduction;Glypican 1 network;Syndecan-1-mediated signaling events;FGFR1b ligand binding and activation;Downstream signaling of activated FGFR1;Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R);Syndecan-4-mediated signaling events;FGFR1c ligand binding and activation;FGF signaling pathway;FGFR1 ligand binding and activation;Integrins in angiogenesis;Syndecan-2-mediated signaling events;FGFRL1 modulation of FGFR1 signaling;Syndecan-3-mediated signaling events;FRS-mediated FGFR1 signaling;SHC-mediated cascade:FGFR1;PI-3K cascade:FGFR1;Negative regulation of FGFR1 signaling;Signaling by FGFR1;Phospholipase C-mediated cascade; FGFR3;Phospholipase C-mediated cascade; FGFR4 (Consensus)

Recessive Scores

• pRec: 0.894

Haploinsufficiency Scores

• pHI: 0.968
• ghis: 0.459

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.429

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Fgf2
• Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); hematopoietic system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); neoplasm; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); vision/eye phenotype; cellular phenotype; skeleton phenotype; muscle phenotype; homeostasis/metabolism phenotype

Zebrafish Information Network

• Gene name: fgf2
• Affected structure: whole organism
• Phenotype tag: abnormal
• Phenotype quality: lethal (sensu genetics)

Gene ontology

• Biological process: MAPK cascade;activation of MAPK activity;branching involved in ureteric bud morphogenesis;positive regulation of endothelial cell proliferation;cell migration involved in sprouting angiogenesis;phosphatidylinositol biosynthetic process;chemotaxis;signal transduction;Ras protein signal transduction;nervous system development;positive regulation of cell population proliferation;fibroblast growth factor receptor signaling pathway;animal organ morphogenesis;regulation of signaling receptor activity;negative regulation of fibroblast migration;positive regulation of phospholipase C activity;growth factor dependent regulation of skeletal muscle satellite cell proliferation;peptidyl-tyrosine phosphorylation;cytokine-mediated signaling pathway;extracellular matrix organization;hyaluronan catabolic process;inositol phosphate biosynthetic process;somatic stem cell population maintenance;phosphatidylinositol-3-phosphate biosynthetic process;paracrine signaling;wound healing;positive regulation of cell fate specification;positive regulation of MAP kinase activity;positive regulation of blood vessel endothelial cell migration;negative regulation of blood vessel endothelial cell migration;positive regulation of phosphatidylinositol 3-kinase activity;regulation of angiogenesis;positive regulation of angiogenesis;positive regulation of transcription, DNA-templated;positive regulation of transcription by RNA polymerase II;phosphatidylinositol phosphorylation;embryonic morphogenesis;positive chemotaxis;release of sequestered calcium ion into cytosol;positive regulation of cell division;positive regulation of protein kinase B signaling;positive regulation of cardiac muscle cell proliferation;negative regulation of cell death;chondroblast differentiation;negative regulation of wound healing;positive regulation of ERK1 and ERK2 cascade;stem cell proliferation;positive regulation of cell migration involved in sprouting angiogenesis;positive regulation of sprouting angiogenesis;positive regulation of vascular smooth muscle cell proliferation;positive regulation of vascular endothelial cell proliferation;regulation of endothelial cell chemotaxis to fibroblast growth factor;positive regulation of endothelial cell chemotaxis to fibroblast growth factor;positive regulation of DNA biosynthetic process;positive regulation of endothelial cell chemotaxis
• Cellular component: extracellular region;extracellular space;nucleus
• Molecular function: protein tyrosine kinase activity;Ras guanyl-nucleotide exchange factor activity;fibroblast growth factor receptor binding;cytokine activity;integrin binding;protein binding;growth factor activity;heparin binding;1-phosphatidylinositol-3-kinase activity;nuclear receptor transcription coactivator activity;chemoattractant activity;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;receptor-receptor interaction