FGF22

fibroblast growth factor 22, the group of Fibroblast growth factor family

Basic information

Region (hg38): 19:639879-644373

Links

ENSG00000070388 ∙ NCBI:27006 ∙ OMIM:605831 ∙ HGNC:3679 ∙ Uniprot:Q9HCT0 ∙ 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 FGF22 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FGF22 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						0
missense			32	3		35
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	32	3	0

Variants in FGF22

This is a list of pathogenic ClinVar variants found in the FGF22 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-639929-C-T		not specified	Uncertain significance (Mar 03, 2025)
19-639943-G-T		not specified	Uncertain significance (Jul 27, 2021)
19-639959-C-G		not specified	Uncertain significance (Jan 03, 2022)
19-639968-G-A		not specified	Uncertain significance (Sep 22, 2023)
19-639978-C-T		not specified	Uncertain significance (Jun 24, 2022)
19-639996-C-G		not specified	Uncertain significance (Jul 30, 2024)
19-640025-C-T		not specified	Uncertain significance (Feb 27, 2024)
19-640038-G-A		not specified	Uncertain significance (Sep 10, 2024)
19-640055-C-A		not specified	Uncertain significance (May 18, 2023)
19-640097-G-A		not specified	Likely benign (Mar 31, 2024)
19-640097-G-C		not specified	Uncertain significance (May 30, 2023)
19-640110-A-G		not specified	Uncertain significance (Aug 15, 2023)
19-640134-A-G		not specified	Uncertain significance (Dec 02, 2024)
19-643244-A-T		not specified	Uncertain significance (Feb 06, 2025)
19-643258-C-T		not specified	Uncertain significance (Oct 21, 2024)
19-643261-G-A		not specified	Uncertain significance (Jul 27, 2021)
19-643265-G-T		not specified	Uncertain significance (Mar 08, 2025)
19-643310-T-C		not specified	Uncertain significance (Apr 23, 2024)
19-643312-A-T		not specified	Uncertain significance (Dec 17, 2023)
19-643322-G-C		not specified	Uncertain significance (Oct 17, 2023)
19-643324-C-T		not specified	Uncertain significance (Dec 25, 2024)
19-643325-G-A		not specified	Uncertain significance (Dec 09, 2024)
19-643334-G-C		not specified	Uncertain significance (Mar 29, 2022)
19-643337-C-T		not specified	Uncertain significance (Feb 28, 2025)
19-643422-G-A		not specified	Uncertain significance (Aug 30, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FGF22	protein_coding	protein_coding	ENST00000215530	3	3825

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.67e-7	0.0829	124572	1	59	124632	0.000241

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.797	122	99.6	1.22	0.00000810	1036
Missense in Polyphen		57	49.664	1.1477		444
Synonymous	-0.159	43	41.7	1.03	0.00000313	395
Loss of Function	-1.01	8	5.46	1.46	3.19e-7	61

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00220	0.00208
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000556	0.0000546
Finnish	0.00	0.00
European (Non-Finnish)	0.0000644	0.0000624
Middle Eastern	0.0000556	0.0000546
South Asian	0.000465	0.000425
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays a role in the fasting response, glucose homeostasis, lipolysis and lipogenesis. Can stimulate cell proliferation (in vitro). May be involved in hair development. {ECO:0000269|PubMed:16597617}.
• Pathway: PI3K-Akt signaling pathway - Homo sapiens (human);Gastric cancer - Homo sapiens (human);Melanoma - Homo sapiens (human);Breast cancer - Homo sapiens (human);Regulation of actin cytoskeleton - Homo sapiens (human);Rap1 signaling pathway - Homo sapiens (human);Ras signaling pathway - Homo sapiens (human);MAPK signaling pathway - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);MAPK Signaling Pathway;ESC Pluripotency Pathways;Focal Adhesion-PI3K-Akt-mTOR-signaling pathway;PI3K-Akt Signaling Pathway;Regulation of Actin Cytoskeleton;FGFR2b 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;SHC-mediated cascade:FGFR2;PI-3K cascade:FGFR2;Downstream signaling of activated FGFR2;Disease;Signal Transduction;Signaling by FGFR;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;FGF;Signaling by FGFR2 in disease;GPCR signaling-G alpha s Epac and ERK;GPCR signaling-G alpha s PKA and ERK;RAF/MAP kinase cascade;MAPK1/MAPK3 signaling;MAPK family signaling cascades;PIP3 activates AKT signaling;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Negative regulation of the PI3K/AKT network;FGFR2 mutant receptor activation;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 Receptor Tyrosine Kinases;Intracellular signaling by second messengers;Phospholipase C-mediated cascade: FGFR1;Diseases of signal transduction;FGFR1b ligand binding and activation;Downstream signaling of activated FGFR1;Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R);FGFR1 ligand binding and activation;FGFRL1 modulation of FGFR1 signaling;FRS-mediated FGFR1 signaling;SHC-mediated cascade:FGFR1;PI-3K cascade:FGFR1;Negative regulation of FGFR1 signaling;Signaling by FGFR1 (Consensus)

Recessive Scores

• pRec: 0.126

Haploinsufficiency Scores

• pHI: 0.353
• hipred: N
• hipred_score: 0.197
• ghis: 0.566

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.126

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fgf22
• Phenotype: 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); neoplasm; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); homeostasis/metabolism phenotype

Zebrafish Information Network

• Gene name: fgf22
• Affected structure: roof plate midbrain region
• Phenotype tag: abnormal
• Phenotype quality: increased width

Gene ontology

• Biological process: MAPK cascade;fibroblast growth factor receptor signaling pathway;regulation of signaling receptor activity;peptidyl-tyrosine phosphorylation;cell differentiation;phosphatidylinositol-3-phosphate biosynthetic process;phosphatidylinositol phosphorylation;positive regulation of protein kinase B signaling
• Cellular component: extracellular region;extracellular space;nucleolus;Golgi apparatus;cell surface
• Molecular function: protein tyrosine kinase activity;Ras guanyl-nucleotide exchange factor activity;fibroblast growth factor receptor binding;growth factor activity;1-phosphatidylinositol-3-kinase activity;phosphatidylinositol-4,5-bisphosphate 3-kinase activity