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mutLBSgeneDB |
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| Gene summary for FGF23 |
 Gene summary |
| Basic gene Info. | Gene symbol | FGF23 |
| Gene name | fibroblast growth factor 23 | |
| Synonyms | ADHR|FGFN|HPDR2|HYPF|PHPTC | |
| Cytomap | UCSC genome browser: 12p13.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_020638.2, | |
| Description | phosphatonintumor-derived hypophosphatemia inducing factor | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 605380 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000118972 | ||
| HPRD : 05648 | ||
| Vega : OTTHUMG00000168241 | ||
| Protein | UniProt: Q9GZV9 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_FGF23 | |
| BioGPS: 8074 | ||
| Pathway | NCI Pathway Interaction Database: FGF23 | |
| KEGG: FGF23 | ||
| REACTOME: FGF23 | ||
| Pathway Commons: FGF23 | ||
| Context | iHOP: FGF23 | |
| ligand binding site mutation search in PubMed: FGF23 | ||
| UCL Cancer Institute: FGF23 | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0010966 | regulation of phosphate transport | 11409890 | GO:0010980 | positive regulation of vitamin D 24-hydroxylase activity | 15040831 | GO:0030502 | negative regulation of bone mineralization | 18282132 | GO:0042369 | vitamin D catabolic process | 15040831 | GO:0045668 | negative regulation of osteoblast differentiation | 18282132 |
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| Ligand binding site mutations for FGF23 |
| Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.)  : non-synonymous mutation on LBS, Circle size denotes number of samples. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | A141 | R143T | HNSC | 1 | P153 | P151T | LUAD | 1 | R140 | R140W | OV | 1 | P153 | P153S | SKCM | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for FGF23 |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | P153 | P153S | -1.2988853 | P153 | P151T | -0.99441216 | R140 | R140W | -0.92378923 | A141 | R143T | -0.35468609 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for FGF23 from PDB |
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| Differential gene expression and gene-gene network for FGF23 |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for FGF23 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0342642 | Hypophosphatemic Rickets, Autosomal Dominant | 34 | Biomarker, GeneticVariation |
| umls:C0085681 | Hyperphosphatemia | 20 | Biomarker, GeneticVariation |
| umls:C1876187 | Tumoral Calcinosis, Hyperphosphatemic, Familial | 7 | Biomarker, GeneticVariation |
| umls:C0006663 | Calcinosis | 4 | Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for FGF23 |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of FGF23 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | SCR | SUCROSE OCTASULFATE | 2p39 | A | R140 A141 P153 |
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| Conservation information for LBS of FGF23 |
| Multiple alignments for Q9GZV9 in multiple species |
| LBS | AA sequence | # species | Species | A141 | VSLGRAKRAFL | 1 | Homo sapiens | A141 | VSLGRAKRIFQ | 1 | Mus musculus | A141 | VSLGRSKRIFQ | 1 | Rattus norvegicus | A47 | LYTATARNSYH | 2 | Homo sapiens, Rattus norvegicus | A47 | LYTATARTSYH | 1 | Mus musculus | G139 | FLVSLGRAKRA | 1 | Homo sapiens | G139 | YLVSLGRAKRI | 1 | Mus musculus | G139 | YLVSLGRSKRI | 1 | Rattus norvegicus | N49 | TATARNSYHLQ | 2 | Homo sapiens, Rattus norvegicus | N49 | TATARTSYHLQ | 1 | Mus musculus | P153 | GTNPPPFSQFL | 2 | Mus musculus, Rattus norvegicus | P153 | GMNPPPYSQFL | 1 | Homo sapiens | R140 | LVSLGRAKRAF | 1 | Homo sapiens | R140 | LVSLGRAKRIF | 1 | Mus musculus | R140 | LVSLGRSKRIF | 1 | Rattus norvegicus | R48 | YTATARNSYHL | 2 | Homo sapiens, Rattus norvegicus | R48 | YTATARTSYHL | 1 | Mus musculus | Y154 | TNPPPFSQFLA | 2 | Mus musculus, Rattus norvegicus | Y154 | MNPPPYSQFLS | 1 | Homo sapiens |
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