FGF23 fibroblast growth factor 23 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FGF23provided by HGNC
Official Full Name: fibroblast growth factor 23provided by HGNC
Primary source: HGNC:HGNC:3680
See related: Ensembl:ENSG00000118972 MIM:605380; AllianceGenome:HGNC:3680
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: ADHR; FGFN; HYPF; HFTC2; HPDR2; PHPTC
Summary: This gene encodes a member of the fibroblast growth factor family of proteins, which possess broad mitogenic and cell survival activities and are involved in a variety of biological processes. The product of this gene regulates phosphate homeostasis and transport in the kidney. The full-length, functional protein may be deactivated via cleavage into N-terminal and C-terminal chains. Mutation of this cleavage site causes autosomal dominant hypophosphatemic rickets (ADHR). Mutations in this gene are also associated with hyperphosphatemic familial tumoral calcinosis (HFTC). [provided by RefSeq, Feb 2013]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 12p13.32

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (4368227..4379712, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (4375010..4386480, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (4477393..4488878, complement)

Chromosome 12 - NC_000012.12 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: HPA RNA-seq normal tissues 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?

Fibroblast growth factor 23-mediated regulation of osteoporosis: Assessed via Mendelian randomization and in vitro study.
Title: Fibroblast growth factor 23-mediated regulation of osteoporosis: Assessed via Mendelian randomization and in vitro study.
Recent advances in fibroblast growth factor 23-related hypophosphatemic disorders.
Title: Recent advances in fibroblast growth factor 23-related hypophosphatemic disorders.
Roles of Parathyroid Hormone and Fibroblast Growth Factor 23 in Advanced Chronic Kidney Disease.
Title: Roles of Parathyroid Hormone and Fibroblast Growth Factor 23 in Advanced Chronic Kidney Disease.
A novel miR-466l-3p/FGF23 axis promotes osteogenic differentiation of human bone marrow mesenchymal stem cells.
Title: A novel miR-466l-3p/FGF23 axis promotes osteogenic differentiation of human bone marrow mesenchymal stem cells.
FGF23 facilitates IL-1beta synthesis in rheumatoid arthritis through activating PI3K, Akt, and NF-kappaB pathways.
Title: FGF23 facilitates IL-1β synthesis in rheumatoid arthritis through activating PI3K, Akt, and NF-κB pathways.
FGF23 as a Potential Pathophysiological Factor in Peripheral Arterial Disease Associated with Chronic Kidney Disease.
Title: FGF23 as a Potential Pathophysiological Factor in Peripheral Arterial Disease Associated with Chronic Kidney Disease.
Fibroblast growth factor 23 and calcium-phosphate metabolism in relation to cardiovascular risk factors in patients with type 1 diabetes.
Title: Fibroblast growth factor 23 and calcium-phosphate metabolism in relation to cardiovascular risk factors in patients with type 1 diabetes.
Relationships of serum FGF23 and alpha-klotho with atherosclerosis in patients with type 2 diabetes mellitus.
Title: Relationships of serum FGF23 and α-klotho with atherosclerosis in patients with type 2 diabetes mellitus.
ERRgamma-inducible FGF23 promotes alcoholic liver injury through enhancing CYP2E1 mediated hepatic oxidative stress.
Title: ERRγ-inducible FGF23 promotes alcoholic liver injury through enhancing CYP2E1 mediated hepatic oxidative stress.
Role of klotho and fibroblast growth factor 23 in arterial calcification, thickness, and stiffness: a meta-analysis of observational studies.
Title: Role of klotho and fibroblast growth factor 23 in arterial calcification, thickness, and stiffness: a meta-analysis of observational studies.

Submit: New GeneRIF Correction See all GeneRIFs (632)

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
Autosomal dominant hypophosphatemic rickets MedGen: C0342642 OMIM: 193100 GeneReviews: Not available	not available
Tumoral calcinosis, hyperphosphatemic, familial, 2 MedGen: C4693863 OMIM: 617993 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Common genetic variants associate with serum phosphorus concentration. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analyses in East Asians identify new susceptibility loci for colorectal cancer. 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

NoName (e-PCR)
- UniSTS:481591

PMC182207P2 (e-PCR)
- UniSTS:271679

G19259 (e-PCR)
- UniSTS:7318

NoName (e-PCR)
- UniSTS:484025

FGF23_4082 (e-PCR)
- UniSTS:463586

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables growth factor activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables type 1 fibroblast growth factor receptor binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in ERK1 and ERK2 cascade	IEA Inferred from Electronic Annotation more info
involved_in calcium ion homeostasis	IEA Inferred from Electronic Annotation more info
involved_in cellular response to interleukin-6	IEA Inferred from Electronic Annotation more info
involved_in cellular response to leptin stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to parathyroid hormone stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to vitamin D	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 intracellular phosphate ion homeostasis	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of bone mineralization	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of hormone secretion	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of osteoblast differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in neurogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in phosphate ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of ERK1 and ERK2 cascade	IEA Inferred from Electronic Annotation more info
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 vitamin D 24-hydroxylase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cell migration	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of phosphate transport	IDA Inferred from Direct Assay more info	PubMed
involved_in response to magnesium ion	IEA Inferred from Electronic Annotation more info
involved_in response to sodium phosphate	IEA Inferred from Electronic Annotation more info
involved_in vitamin D catabolic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi lumen	TAS Traceable Author Statement more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum lumen	TAS Traceable Author Statement 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
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: fibroblast growth factor 23

Names: phosphatonin; tumor-derived hypophosphatemia inducing factor

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_007087.1 RefSeqGene

Range

5017..16502

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_020638.3 → NP_065689.1 fibroblast growth factor 23 precursor

See identical proteins and their annotated locations for NP_065689.1

Status: REVIEWED

Source sequence(s)

AB047858, AF263537

Consensus CDS

CCDS8526.1

UniProtKB/Swiss-Prot

Q4V758, Q9GZV9

Related

ENSP00000237837.1, ENST00000237837.2

Conserved Domains (1) summary

cd00058
Location:40 → 160

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 ...