Tissue expression of PHEX - Summary - The Human Protein Atlas

GENERAL INFORMATION
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

RNA tissue category

HPA:	Mixed
GTEx:	Tissue enhanced (lung)
FANTOM5:	Not detected

Protein evidence

Evidence at protein level

DATA RELIABILITY
Reliability score	Pending normal tissue annotation.

RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

N/A

Cerebral cortex

N/A

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

N/A

Thyroid gland

N/A

Parathyroid gland

N/A

Adrenal gland

N/A

Bone marrow & immune system

N/A

Appendix

N/A

Bone marrow

N/A

Lymph node

N/A

Tonsil

N/A

Spleen

N/A

Muscle tissues

N/A

Heart muscle

N/A

Skeletal muscle

N/A

Smooth muscle

N/A

Lung

N/A

Nasopharynx

N/A

Bronchus

N/A

Lung

N/A

Liver & gallbladder

N/A

Liver

N/A

Gallbladder

N/A

Pancreas

N/A

Pancreas

N/A

Gastrointestinal tract

N/A

Oral mucosa

N/A

Salivary gland

N/A

Esophagus

N/A

Stomach

N/A

Duodenum

N/A

Small intestine

N/A

Colon

N/A

Rectum

N/A

Kidney & urinary bladder

N/A

Kidney

N/A

Urinary bladder

N/A

Male tissues

N/A

Testis

N/A

Epididymis

N/A

Prostate

N/A

Seminal vesicle

N/A

Female tissues

N/A

Breast

N/A

Vagina

N/A

Cervix, uterine

N/A

Endometrium

N/A

Fallopian tube

N/A

Ovary

N/A

Placenta

N/A

Adipose & soft tissue

N/A

Adipose tissue

N/A

Soft tissue

N/A

Skin

N/A

Skin

N/A

PROTEIN EXPRESSION OVERVIEW
Pending normal tissue annotation.

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Mixed
GTEx dataset Organ Expression Alphabetical RNA tissue category: Tissue enhanced (lung)
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Not detected

GENE INFORMATION
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 83.38)
Entrez gene	5251
UniProt	P78562 (UniProt - Evidence at protein level)
neXtProt	NX_P78562
Antibodypedia	PHEX antibodies

PROTEIN BROWSER

PHEX-001

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
PHEX-001 ENSP00000368682 ENST00000379374	P78562 [Direct mapping] Phosphate-regulating neutral endopeptidase Show all	Enzymes Peptidases Metallopeptidases MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Plasma proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Show all	GO:0001501 [skeletal system development] GO:0004177 [aminopeptidase activity] GO:0004222 [metalloendopeptidase activity] GO:0005783 [endoplasmic reticulum] GO:0005794 [Golgi apparatus] GO:0005886 [plasma membrane] GO:0005887 [integral component of plasma membrane] GO:0006464 [cellular protein modification process] GO:0006508 [proteolysis] GO:0007267 [cell-cell signaling] GO:0008270 [zinc ion binding] GO:0019637 [organophosphate metabolic process] GO:0030282 [bone mineralization] GO:0048471 [perinuclear region of cytoplasm] Show all	749 aa 86.5 kDa	No	0