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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes Disease related genes Human disease related genes Plasma proteins Potential drug targets RAS pathway related proteins Transporters
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
12
Cytoband
p13.32
Chromosome location (bp)
4368227 - 4379712
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Regulator of phosphate homeostasis 1. Inhibits renal tubular phosphate transport by reducing SLC34A1 levels 2. Up-regulates EGR1 expression in the presence of KL (By similarity). Acts directly on the parathyroid to decrease PTH secretion (By similarity). Regulator of vitamin-D metabolism 3. Negatively regulates osteoblast differentiation and matrix mineralization 4....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Growth factor
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Differentiation
Gene summary (Entrez)i
Useful information about the gene from Entrez
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Transporters Transporter channels and pores MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins DeepTMHMM predicted secreted proteins DeepSig predicted secreted proteins Plasma proteins RAS pathway related proteins Cancer-related genes Candidate cancer biomarkers Disease related genes Potential drug targets Human disease related genes Congenital disorders of metabolism Congenital disorders of ion transport and metabolism Other congenital disorders of metabolism Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0000165[MAPK cascade] GO:0001934[positive regulation of protein phosphorylation] GO:0005104[fibroblast growth factor receptor binding] GO:0005105[type 1 fibroblast growth factor receptor binding] GO:0005515[protein binding] GO:0005576[extracellular region] GO:0005615[extracellular space] GO:0005737[cytoplasm] GO:0005788[endoplasmic reticulum lumen] GO:0005796[Golgi lumen] GO:0006796[phosphate-containing compound metabolic process] GO:0008083[growth factor activity] GO:0008284[positive regulation of cell population proliferation] GO:0008543[fibroblast growth factor receptor signaling pathway] GO:0009887[animal organ morphogenesis] GO:0010628[positive regulation of gene expression] GO:0010966[regulation of phosphate transport] GO:0010980[positive regulation of vitamin D 24-hydroxylase activity] GO:0030154[cell differentiation] GO:0030334[regulation of cell migration] GO:0030500[regulation of bone mineralization] GO:0030502[negative regulation of bone mineralization] GO:0030643[cellular phosphate ion homeostasis] GO:0032026[response to magnesium ion] GO:0042359[vitamin D metabolic process] GO:0042369[vitamin D catabolic process] GO:0044320[cellular response to leptin stimulus] GO:0045668[negative regulation of osteoblast differentiation] GO:0045893[positive regulation of DNA-templated transcription] GO:0046888[negative regulation of hormone secretion] GO:0055062[phosphate ion homeostasis] GO:0055074[calcium ion homeostasis] GO:0070371[ERK1 and ERK2 cascade] GO:0070374[positive regulation of ERK1 and ERK2 cascade] GO:0071305[cellular response to vitamin D] GO:0071354[cellular response to interleukin-6] GO:0071374[cellular response to parathyroid hormone stimulus] GO:0090080[positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway] GO:1904383[response to sodium phosphate]
The Human Protein Atlas project is funded
