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PHEX (phosphate regulating endopeptidase homolog, X-linked)

Identity

Alias_namesHYP
HPDR
phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)
Alias_symbol (synonym)PEX
HPDR1
HYP1
XLH
Other aliasLXHR
HGNC (Hugo) PHEX
LocusID (NCBI) 5251
Atlas_Id 71879
Location Xp22.11  [Link to chromosome band Xp22]
Location_base_pair Starts at 22032444 and ends at 22251310 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
PHEX (Xp22.11) / ANK3 (10q21.2)PHEX (Xp22.11) / PTPN3 (9q31.3)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)PHEX   8918
Cards
Entrez_Gene (NCBI)PHEX  5251  phosphate regulating endopeptidase homolog, X-linked
AliasesHPDR; HPDR1; HYP; HYP1; 
LXHR; PEX; XLH
GeneCards (Weizmann)PHEX
Ensembl hg19 (Hinxton)ENSG00000102174 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000102174 [Gene_View]  chrX:22032444-22251310 [Contig_View]  PHEX [Vega]
ICGC DataPortalENSG00000102174
TCGA cBioPortalPHEX
AceView (NCBI)PHEX
Genatlas (Paris)PHEX
WikiGenes5251
SOURCE (Princeton)PHEX
Genetics Home Reference (NIH)PHEX
Genomic and cartography
GoldenPath hg38 (UCSC)PHEX  -     chrX:22032444-22251310 +  Xp22.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PHEX  -     Xp22.11   [Description]    (hg19-Feb_2009)
EnsemblPHEX - Xp22.11 [CytoView hg19]  PHEX - Xp22.11 [CytoView hg38]
Mapping of homologs : NCBIPHEX [Mapview hg19]  PHEX [Mapview hg38]
OMIM300550   307800   
Gene and transcription
Genbank (Entrez)AD000712 AK298030 AK301528 AK304551 BC105057
RefSeq transcript (Entrez)NM_000444 NM_001282754
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PHEX
Cluster EST : UnigeneHs.495834 [ NCBI ]
CGAP (NCI)Hs.495834
Alternative Splicing GalleryENSG00000102174
Gene ExpressionPHEX [ NCBI-GEO ]   PHEX [ EBI - ARRAY_EXPRESS ]   PHEX [ SEEK ]   PHEX [ MEM ]
Gene Expression Viewer (FireBrowse)PHEX [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5251
GTEX Portal (Tissue expression)PHEX
Protein : pattern, domain, 3D structure
UniProt/SwissProtP78562   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP78562  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP78562
Splice isoforms : SwissVarP78562
Catalytic activity : Enzyme3.4.24.- [ Enzyme-Expasy ]   3.4.24.-3.4.24.- [ IntEnz-EBI ]   3.4.24.- [ BRENDA ]   3.4.24.- [ KEGG ]   
PhosPhoSitePlusP78562
Domaine pattern : Prosite (Expaxy)ZINC_PROTEASE (PS00142)   
Domains : Interpro (EBI)MetalloPept_cat_dom    Peptidase_M13    Peptidase_M13_C    Peptidase_M13_N   
Domain families : Pfam (Sanger)Peptidase_M13 (PF01431)    Peptidase_M13_N (PF05649)   
Domain families : Pfam (NCBI)pfam01431    pfam05649   
Conserved Domain (NCBI)PHEX
DMDM Disease mutations5251
Blocks (Seattle)PHEX
SuperfamilyP78562
Human Protein AtlasENSG00000102174
Peptide AtlasP78562
HPRD02387
IPIIPI00020366   IPI01010017   IPI01010946   IPI01010485   
Protein Interaction databases
DIP (DOE-UCLA)P78562
IntAct (EBI)P78562
FunCoupENSG00000102174
BioGRIDPHEX
STRING (EMBL)PHEX
ZODIACPHEX
Ontologies - Pathways
QuickGOP78562
Ontology : AmiGOskeletal system development  aminopeptidase activity  metalloendopeptidase activity  endoplasmic reticulum  Golgi apparatus  plasma membrane  integral component of plasma membrane  cellular protein modification process  proteolysis  cell-cell signaling  zinc ion binding  organophosphate metabolic process  bone mineralization  lung development  perinuclear region of cytoplasm  bone development  response to growth hormone  cellular response to vitamin D  cellular response to parathyroid hormone stimulus  response to sodium phosphate  response to insulin-like growth factor stimulus  
Ontology : EGO-EBIskeletal system development  aminopeptidase activity  metalloendopeptidase activity  endoplasmic reticulum  Golgi apparatus  plasma membrane  integral component of plasma membrane  cellular protein modification process  proteolysis  cell-cell signaling  zinc ion binding  organophosphate metabolic process  bone mineralization  lung development  perinuclear region of cytoplasm  bone development  response to growth hormone  cellular response to vitamin D  cellular response to parathyroid hormone stimulus  response to sodium phosphate  response to insulin-like growth factor stimulus  
NDEx NetworkPHEX
Atlas of Cancer Signalling NetworkPHEX
Wikipedia pathwaysPHEX
Orthology - Evolution
OrthoDB5251
GeneTree (enSembl)ENSG00000102174
Phylogenetic Trees/Animal Genes : TreeFamPHEX
HOVERGENP78562
HOGENOMP78562
Homologs : HomoloGenePHEX
Homology/Alignments : Family Browser (UCSC)PHEX
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPHEX [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PHEX
dbVarPHEX
ClinVarPHEX
1000_GenomesPHEX 
Exome Variant ServerPHEX
ExAC (Exome Aggregation Consortium)PHEX (select the gene name)
Genetic variants : HAPMAP5251
Genomic Variants (DGV)PHEX [DGVbeta]
DECIPHERPHEX [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPHEX 
Mutations
ICGC Data PortalPHEX 
TCGA Data PortalPHEX 
Broad Tumor PortalPHEX
OASIS PortalPHEX [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPHEX  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPHEX
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)LOVD - Munich Open Variation Database
BioMutasearch PHEX
DgiDB (Drug Gene Interaction Database)PHEX
DoCM (Curated mutations)PHEX (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PHEX (select a term)
intoGenPHEX
Cancer3DPHEX(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300550    307800   
Orphanet11911   
MedgenPHEX
Genetic Testing Registry PHEX
NextProtP78562 [Medical]
TSGene5251
GENETestsPHEX
Target ValidationPHEX
Huge Navigator PHEX [HugePedia]
snp3D : Map Gene to Disease5251
BioCentury BCIQPHEX
ClinGenPHEX
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5251
Chemical/Pharm GKB GenePA33258
Clinical trialPHEX
Miscellaneous
canSAR (ICR)PHEX (select the gene name)
Probes
Litterature
PubMed92 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePHEX
EVEXPHEX
GoPubMedPHEX
iHOPPHEX
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed May 31 15:36:14 CEST 2017

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