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Gene : FGF23 Homo sapiens

Name  ? fibroblast growth factor 23 Cytological Location  12p13.32
Brief Description  fibroblast growth factor 23
Description  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]
  • synonyms:
  • OTTHUMG00000168241,
  • HPDR2,
  • FGF23,
  • NM_020638,
  • PHPTC,
  • AF263537,
  • uc001qmq.1,
  • HGNC:3680,
  • HYPF,
  • HFTC2,
  • FGFN,
  • ADHR
  • identifiers:
  • 8074,
  • ENSG00000118972,
  • FGF23

Genome feature

Region: gene ? Length: 11486  
Location: 12:4368227-4379712 reverse strand Cyto location: 12p13.32


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Function

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80 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

80 Pathways

0 SN Ps

5 Cross References

17 Data Sets

5 Homologues

1 Located Features

97 Rna Seq Results