FGF23 - fibroblast growth factor 23 Gene
Also Known as ADHR; FGFN; HYPF; HFTC2; HPDR2; PHPTC
Species: Homo sapiens
About FGF23
This gene has 2 transcripts (splice variants), 203 orthologues, 21 paralogues and is associated with 4 phenotypes. Low expression observed in reference dataset.
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]
FGF23 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_020638.3 | NP_065689.1 | fibroblast growth factor 23 precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
17086194 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in negative regulation of bone mineralization |
IDA
IDA: Inferred from direct assay
|
18282132 | GOA |
| involved in negative regulation of osteoblast differentiation |
IDA
IDA: Inferred from direct assay
|
18282132 | GOA |
| involved in phosphate ion homeostasis |
IMP
IMP: Inferred from mutant phenotype
|
11062477 | GOA |
| involved in positive regulation of vitamin D 24-hydroxylase activity |
IDA
IDA: Inferred from direct assay
|
15040831 | GOA |
| involved in regulation of phosphate transport |
IDA
IDA: Inferred from direct assay
|
11409890 | GOA |
| involved in vitamin D catabolic process |
IDA
IDA: Inferred from direct assay
|
15040831 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in extracellular space |
IDA
IDA: Inferred from direct assay
|
16638743 | GOA |
FGF23 Protein Structure
FGF: Fibroblast growth factor (41 - 140)
- 0
- 100
- 200
- 251 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
fibroblast growth factor 23 |
|
FGF23 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
FGF23 | Q9GZV9 | FGFR1 | Homo sapiens | P11362 | 19966287 | |
|
Cross
|
FGF23 | Q9GZV9 | Kl | Mus musculus | O35082 | 19966287 | |
|
Cross
|
FGF23 | Q9GZV9 | Kl | Mus musculus | O35082 | 19966287 | |
|
Cross
|
FGF23 | Q9GZV9 | Kl | Mus musculus | O35082 | 19966287 |
Recombinant FGF23 Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P7013 | FGF-23 Protein, Human | Q9GZV9 (Y25-F251) | ≥ 95%, as determined by reducing SDS-PAGE. |
| HY-P78675 | FGF-23 Protein, Human (R179Q, HEK293, His) | Q9GZV9 (Y25-I251, R179Q) | ≥ 95%, as determined by reducing SDS-PAGE. |
| HY-P700064AF | Animal-Free FGF-23 Protein, Human (His) | Q9GZV9 (Y25-I251) | ≥ 95%, as determined by reducing SDS-PAGE. |
FGF23 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P811064 | FGF23 Antibody | WB, ICC/IF | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Hypophosphatemic Rickets, Autosomal Dominant |
|
|
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
|
|
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
|
| Hypophosphatemic Rickets, X-Linked Recessive |
|
|
| Hypophosphatemia |
|
|
| Hyperphosphatemia |
|
|
| Rickets |
|
|
| Calcinosis |
|
|
| Osteomalacia |
|
|
| Fibrous Dysplasia |
|
|
| Hyperostosis |
|
|
| Calciphylaxis |
|
|
| Secondary Hyperparathyroidism |
|
|
| Renal Osteodystrophy |
|
|
| Paraneoplastic Syndromes |
|
|
| Phosphorus Metabolism Disease |
|
|
| Hyperparathyroidism |
|
|
| Arterial Calcification Of Infancy |
|
|
| Hypoparathyroidism |
|
|
| Hypophosphatasia |
|
|
| Chronic Kidney Disease |
|
|
| Kidney Disease |
|
|
| Hypocalcemia, Autosomal Dominant 1 |
|
|
| Primary Hyperparathyroidism |
|
|
| Mineral Metabolism Disease |
|
|
| Bone Disease |
|
|
| Dental Abscess |
|
|
| Enthesopathy |
|
|
| Nevus, Epidermal |
|
|
| Hypophosphatemic Rickets, X-Linked Dominant |
|
|
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
|
| Autosomal Recessive Hypophosphatemic Rickets |
|
|
| Hypervitaminosis D |
|
|
| Cystinosis |
|
|
| Osteoglophonic Dysplasia |
|
|
| Uremia |
|
|
| Nephrolithiasis |
|
|
| Parathyroid Gland Disease |
|
|
| Metaphyseal Chondrodysplasia, Jansen Type |
|
|
| Benign Giant Cell Tumor |
|
|
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
|
| Mesenchymal Cell Neoplasm |
|
|
| Ankylosing Spondylitis 1 |
|
|
| Vitamin D-Dependent Rickets |
|
|
| Skin Atrophy |
|
|
| Vitamin D Hydroxylation-Deficient Rickets, Type 1a |
|
|
| Blount'S Disease |
|
|
| Pulmonary Alveolar Microlithiasis |
|
|
| Bone Remodeling Disease |
|
|
| Mccune-Albright Syndrome |
|
|
| Osteitis Fibrosa |
|
|
| Vitamin D Hydroxylation-Deficient Rickets, Type 1b |
|
|
| Vitamin D-Dependent Rickets Type 2b |
|
|
| Osteoporosis |
|
|
| Osteoblastoma |
|
|
| Ossifying Fibroma |
|
|
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
|
| Lacrimoauriculodentodigital Syndrome |
|
|
| Beta-Thalassemia |
|
|
| Vitamin D-Dependent Rickets, Type 2a |
|
|
| Metaphyseal Dysplasia |
|
|
| Polycystic Kidney Disease 4 |
|
|
| Fanconi Syndrome |
|
|
| Microcephaly And Chorioretinopathy 1 |
|
|
| Bone Benign Neoplasm |
|
|
| Heart Disease |
|
|
| Acquired Metabolic Disease |
|
|
| Bone Resorption Disease |
|
|
| Conjunctival Deposit |
|
|
| Long Qt Syndrome |
|
|
| Cardiovascular System Disease |
|
|
| Diabetes Mellitus |
|
|
| Autosomal Dominant Polycystic Kidney Disease |
|
|
| Lipoprotein Quantitative Trait Locus |
|
|
| Crouzon Syndrome |
|
|
| Hypertension, Essential |
|
|
| Cystic Kidney Disease |
|
|
| Hyperlipoproteinemia, Type V |
|
|
| Osteochondrodysplasia |
|
|
| Craniosynostosis |
|
|
| Brittle Bone Disorder |
|
|
| Polycystic Kidney Disease |
|
|
| Connective Tissue Disease |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | FGF23 | RGD | RGD:620178 |
| Bos taurus | FGF23 | VGNC | VGNC:28978 |
| Macaca mulatta | FGF23 | VGNC | VGNC:108342 |
| Canis familiaris | FGF23 | VGNC | VGNC:54303 |
| Mus musculus | FGF23 | MGD | MGI:1891427 |
| Others | FGF23 | NCBI |