PHEX

GENERAL INFORMATION

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Gene name

PHEX

Gene description

Phosphate regulating endopeptidase homolog, X-linked

Protein class

Disease related genes
Enzymes
Plasma proteins
Potential drug targets
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

1
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Mixed
GTEx:Tissue enhanced (lung)

Protein evidence

Evidence at protein level

Protein localization

Normal tissues showed moderate to strong cytoplasmic staining. Strong immunoreactivity was for example observed in the intestine, renal tubules, liver, parathyroid gland and trophoblastic cells. The spleen, lymphoid cells outside reaction centra and smooth muscle were weakly stained or negative.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
HPA029582
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Mixed

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enhanced (lung)

Organ

Expression



GENE INFORMATION

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Gene name

PHEX (HGNC Symbol)

Synonyms

HPDR, HPDR1, HYP, HYP1, PEX, XLH

Description

Phosphate regulating endopeptidase homolog, X-linked (HGNC Symbol)

Entrez gene 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]

Chromosome

X

Cytoband

p22.11

Chromosome location (bp)

22032441 - 22251310

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000102174 (version 78.38)

Entrez gene

5251

UniProt

P78562 (UniProt - Evidence at protein level)

neXtProt

NX_P78562

Antibodypedia

PHEX antibodies


PROTEIN BROWSER

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ENST00000379374
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PHEX-001 ENSP00000368682
ENST00000379374
P78562
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