Format

Send to:

Choose Destination

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

Gene ID: 5251, updated on 26-Jul-2021

Summary

Official Symbol
PHEXprovided by HGNC
Official Full Name
phosphate regulating endopeptidase homolog X-linkedprovided by HGNC
Primary source
HGNC:HGNC:8918
See related
Ensembl:ENSG00000102174 MIM:300550
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
109.20210514 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (22032325..22251310)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (22050443..22269427)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene CYTH1 pseudogene 1 Neighboring gene spermine synthase Neighboring gene PHEX antisense RNA 1 Neighboring gene PTCHD1 antisense RNA (head to head) Neighboring gene Cbl proto-oncogene like 2 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

Associated conditions

Description Tests
Familial X-linked hypophosphatemic vitamin D refractory rickets
MedGen: C0733682 OMIM: 307800 GeneReviews: X-Linked Hypophosphatemia
Compare labs
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
GeneReviews: Not available
Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.
GeneReviews: Not available
Genome-wide association study of proneness to anger.
GeneReviews: Not available
Genome-wide association study of Tourette's syndrome.
GeneReviews: Not available

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables metalloendopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 protein modification process 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 processing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
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
PubMed 

General protein information

Preferred Names
phosphate-regulating neutral endopeptidase PHEX
Names
X-linked hypophosphatemia protein
metalloendopeptidase homolog PEX
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_007563.2 RefSeqGene

    Range
    4523..223507
    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
    P78562
    UniProtKB/TrEMBL
    B4DWG8
    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/Swiss-Prot
    P78562
    UniProtKB/TrEMBL
    B4DNS0, B4DWG8
    Conserved Domains (1) summary
    cd08662
    Location:74695
    M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_024452390.1XP_024308158.1  phosphate-regulating neutral endopeptidase PHEX isoform X1

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

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

    See identical proteins and their annotated locations for XP_011543835.1

    Conserved Domains (1) summary
    cd08662
    Location:1488
    M13; Peptidase family M13 includes neprilysin and endothelin-converting enzyme I
  4. XM_011545536.2XP_011543838.1  phosphate-regulating neutral endopeptidase PHEX isoform X3

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

RNA

  1. XR_001755695.1 RNA Sequence

Support Center