FGF23 fibroblast growth factor 23
Gene ID: 8074, updated on 30-Apr-2024Gene type: protein coding
Also known as: ADHR; FGFN; HYPF; HFTC2; HPDR2; PHPTC
- See all available tests in GTR for this gene
- Go to complete Gene record for FGF23
- Go to Variation Viewer for FGF23 variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Autosomal dominant hypophosphatemic rickets | See labs |
| Common genetic variants associate with serum phosphorus concentration. GeneReviews: Not available | |
| Genome-wide association analyses in East Asians identify new susceptibility loci for colorectal cancer. GeneReviews: Not available | |
| Tumoral calcinosis, hyperphosphatemic, familial, 2 | See labs |
Genomic context
- Location:
- 12p13.32
- Sequence:
- Chromosome: 12; NC_000012.12 (4368227..4379712, complement)
- Total number of exons:
- 3
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for FGF23 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- FGF23 database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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