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    PHEX phosphate regulating endopeptidase X-linked [ Homo sapiens (human) ]

    Gene ID: 5251, updated on 27-Nov-2024

    Summary

    Official Symbol
    PHEXprovided by HGNC
    Official Full Name
    phosphate regulating endopeptidase X-linkedprovided by HGNC
    Primary source
    HGNC:HGNC:8918
    See related
    Ensembl:ENSG00000102174 MIM:300550; AllianceGenome:HGNC:8918
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HYP; PEX; XLH; HPDR; HYP1; LXHR; HPDR1
    Summary
    The protein encoded by this gene is a transmembrane endopeptidase that belongs to the type II integral membrane zinc-dependent endopeptidase family. The protein is thought to be involved in bone and dentin mineralization and renal phosphate reabsorption. Mutations in this gene cause X-linked hypophosphatemic rickets. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
    Expression
    Broad expression in lung (RPKM 1.3), endometrium (RPKM 1.1) and 15 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PHEX in Genome Data Viewer
    Location:
    Xp22.11
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (22032325..22251310)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (21615666..21834723)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (22050443..22269427)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20700 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20701 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29487 Neighboring gene CYTH1 pseudogene 1 Neighboring gene spermine synthase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29488 Neighboring gene PHEX antisense RNA 1 Neighboring gene PTCHD1 antisense RNA (head to head) Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:22383141-22384340 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:22417737-22418936 Neighboring gene Cbl proto-oncogene like 2 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:22450970-22452169 Neighboring gene methyltransferase like 15 pseudogene 3

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2012-06-28)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2012-06-28)

    ClinGen Genome Curation Page

    EBI GWAS Catalog

    Description
    Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
    EBI GWAS Catalog
    Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.
    EBI GWAS Catalog
    Genome-wide association study of proneness to anger.
    EBI GWAS Catalog
    Genome-wide association study of Tourette's syndrome.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metalloendopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables zinc ion binding TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in bone development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in bone mineralization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell-cell signaling TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cellular response to parathyroid hormone stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to vitamin D IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lung development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in odontogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in organophosphate metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein modification process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in protein processing IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in proteolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to growth hormone IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to insulin-like growth factor stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to sodium phosphate IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in skeletal system development TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    phosphate-regulating neutral endopeptidase PHEX
    Names
    PHEX peptidase
    X-linked hypophosphatemia protein
    metalloendopeptidase homolog PEX
    phosphate regulating endopeptidase homolog X-linked
    phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)
    vitamin D-resistant hypophosphatemic rickets protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007563.3 RefSeqGene

      Range
      5002..223987
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000444.6NP_000435.3  phosphate-regulating neutral endopeptidase PHEX isoform 1

      See identical proteins and their annotated locations for NP_000435.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AD000712, AK298030, U82970, Y10196
      Consensus CDS
      CCDS14204.1
      UniProtKB/Swiss-Prot
      O00678, P78562, Q13646, Q2M325, Q93032, Q99827
      UniProtKB/TrEMBL
      B4DNS0
      Related
      ENSP00000368682.4, ENST00000379374.5
      Conserved Domains (1) summary
      cd08662
      Location:74747
      M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I
    2. NM_001282754.2NP_001269683.1  phosphate-regulating neutral endopeptidase PHEX isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the 3' coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AD000712, AK298030, Y10196
      UniProtKB/TrEMBL
      B4DNS0
      Conserved Domains (1) summary
      cd08662
      Location:74695
      M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      22032325..22251310
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047442159.1XP_047298115.1  phosphate-regulating neutral endopeptidase PHEX isoform X3

      Related
      ENSP00000508264.1, ENST00000684143.1
    2. XM_024452390.2XP_024308158.1  phosphate-regulating neutral endopeptidase PHEX isoform X1

      UniProtKB/TrEMBL
      B4DNS0, B4DWG8
      Conserved Domains (1) summary
      cd08662
      Location:2643
      M13; Peptidase family M13 includes neprilysin and endothelin-converting enzyme I
    3. XM_017029579.2XP_016885068.1  phosphate-regulating neutral endopeptidase PHEX isoform X2

      UniProtKB/TrEMBL
      B4E334
      Conserved Domains (1) summary
      cd08662
      Location:1488
      M13; Peptidase family M13 includes neprilysin and endothelin-converting enzyme I
    4. XM_011545533.2XP_011543835.1  phosphate-regulating neutral endopeptidase PHEX isoform X2

      See identical proteins and their annotated locations for XP_011543835.1

      UniProtKB/TrEMBL
      B4E334
      Conserved Domains (1) summary
      cd08662
      Location:1488
      M13; Peptidase family M13 includes neprilysin and endothelin-converting enzyme I
    5. XM_011545536.3XP_011543838.1  phosphate-regulating neutral endopeptidase PHEX isoform X4

      UniProtKB/TrEMBL
      B4E334
      Conserved Domains (1) summary
      cd08662
      Location:1371
      M13; Peptidase family M13 includes neprilysin and endothelin-converting enzyme I

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      21615666..21834723
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327194.1XP_054183169.1  phosphate-regulating neutral endopeptidase PHEX isoform X3

    2. XM_054327191.1XP_054183166.1  phosphate-regulating neutral endopeptidase PHEX isoform X1

      UniProtKB/TrEMBL
      B4DWG8
    3. XM_054327193.1XP_054183168.1  phosphate-regulating neutral endopeptidase PHEX isoform X2

    4. XM_054327192.1XP_054183167.1  phosphate-regulating neutral endopeptidase PHEX isoform X2

    5. XM_054327195.1XP_054183170.1  phosphate-regulating neutral endopeptidase PHEX isoform X4