PHEX (phosphate regulating endopeptidase homolog X-linked)

2017-10-01  

Identity

HGNC
PHEX
LOCATION
Xp22.11
LOCUSID
5251
ALIAS
HPDR,HPDR1,HYP,HYP1,LXHR,PEX,XLH
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5251
MIM: 300550
HGNC: 8918
Ensembl: ENSG00000102174

Variants:

dbSNP: 5251
ClinVar: 5251
TCGA: ENSG00000102174
COSMIC: PHEX

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000102174ENST00000379374P78562

Expression (GTEx)

0
1
2
3
4
5
6
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

References

Pubmed IDYearTitleCitations
389276152024A Mild Presentation of X-Linked Hypophosphatemia Caused by a Non-Canonical Splice Site Variant in the PHEX Gene.0
389276152024A Mild Presentation of X-Linked Hypophosphatemia Caused by a Non-Canonical Splice Site Variant in the PHEX Gene.0
363512862023Rare PHEX intron variant causes complete and severe phenotype in a family with hypophosphatemic rickets: a case report.2
370593152023X-linked hypophosphatemia in 4 generations due to an exon 13-15 duplication in PHEX, in the absence of the c.*231A>G variant.0
372787612023Co-occurrence of Spondyloepiphyseal Dysplasia and X-Linked Hypophosphatemia in a Three-Generation Chinese Family.0
380666692023Impaired Growth Plate Maturation in XLH Is due to Both Excess FGF23 and Decreased 1,25-Dihydroxyvitamin D Signaling.0
363512862023Rare PHEX intron variant causes complete and severe phenotype in a family with hypophosphatemic rickets: a case report.2
370593152023X-linked hypophosphatemia in 4 generations due to an exon 13-15 duplication in PHEX, in the absence of the c.*231A>G variant.0
372787612023Co-occurrence of Spondyloepiphyseal Dysplasia and X-Linked Hypophosphatemia in a Three-Generation Chinese Family.0
380666692023Impaired Growth Plate Maturation in XLH Is due to Both Excess FGF23 and Decreased 1,25-Dihydroxyvitamin D Signaling.0
348067942022Novel PHEX gene locus-specific database: Comprehensive characterization of vast number of variants associated with X-linked hypophosphatemia (XLH).10
350551232022Cellular and Molecular Alterations Underlying Abnormal Bone Growth in X-Linked Hypophosphatemia.2
358961472022A Unique Mechanism of a Novel Synonymous PHEX Variant Causing X-Linked Hypophosphatemia.2
364824082022Whole exome sequencing identifies two novel variants in PHEX and DMP1 in Malaysian children with hypophosphatemic rickets.1
348067942022Novel PHEX gene locus-specific database: Comprehensive characterization of vast number of variants associated with X-linked hypophosphatemia (XLH).10

Citation

Dessen P

PHEX (phosphate regulating endopeptidase homolog X-linked)

Atlas Genet Cytogenet Oncol Haematol. 2017-10-01

Online version: http://atlasgeneticsoncology.org/gene/57168/phex-(phosphate-regulating-endopeptidase-homolog-x-linked)