Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5251
Gene name Gene Name - the full gene name approved by the HGNC.
Phosphate regulating endopeptidase X-linked
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PHEX
Synonyms (NCBI Gene) Gene synonyms aliases
HPDR, HPDR1, HYP, HYP1, LXHR, PEX, XLH
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xp22.11
Summary Summary of gene provided in NCBI Entrez Gene.
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.
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs137853268 T>A Pathogenic Coding sequence variant, non coding transcript variant, stop gained, genic upstream transcript variant
rs137853269 G>A,C Pathogenic, likely-pathogenic Missense variant, upstream transcript variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant, genic upstream transcript variant
rs140678356 C>G,T Pathogenic Stop gained, missense variant, non coding transcript variant, coding sequence variant, intron variant, genic upstream transcript variant
rs144911719 C>T Conflicting-interpretations-of-pathogenicity, likely-benign Synonymous variant, non coding transcript variant, coding sequence variant
rs147859619 G>C Conflicting-interpretations-of-pathogenicity, benign-likely-benign Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT051061 hsa-miR-16-5p CLASH 23622248
MIRT514709 hsa-miR-5580-3p HITS-CLIP 21572407
MIRT514706 hsa-miR-5011-5p HITS-CLIP 21572407
MIRT514704 hsa-miR-190a-3p HITS-CLIP 21572407
MIRT514703 hsa-miR-1277-5p HITS-CLIP 21572407
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001501 Process Skeletal system development TAS 9070861
GO:0004222 Function Metalloendopeptidase activity IBA
GO:0004222 Function Metalloendopeptidase activity IEA
GO:0004222 Function Metalloendopeptidase activity TAS 9593714
GO:0005515 Function Protein binding IPI 15664000
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
300550 8918 ENSG00000102174
Protein
UniProt ID P78562
Protein name Phosphate-regulating neutral endopeptidase PHEX (EC 3.4.24.-) (Metalloendopeptidase homolog PEX) (Vitamin D-resistant hypophosphatemic rickets protein) (X-linked hypophosphatemia protein) (HYP)
Protein function Peptidase that cleaves SIBLING (small integrin-binding ligand, N-linked glycoprotein)-derived ASARM peptides, thus regulating their biological activity (PubMed:15664000, PubMed:18162525, PubMed:18597632, PubMed:9593714). Cleaves ASARM peptides b
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05649 Peptidase_M13_N 76 479 Peptidase family M13 Family
PF01431 Peptidase_M13 538 748 Peptidase family M13 Family
Tissue specificity TISSUE SPECIFICITY: Specifically expressed in ovary (PubMed:9070861). Expressed at low levels in kidney (PubMed:9070861). {ECO:0000269|PubMed:9070861}.
Sequence
Sequence length 749
Interactions View interactions
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hypophosphatemic Rickets hypophosphatemic rickets, autosomal dominant hypophosphatemic rickets rs886041363, rs1556025994, rs1556128253, rs1064793847, rs886041369, rs886041296, rs886041227, rs866429868 N/A
Hypophosphatemic Vitamin D Refractory Rickets, X-Linked Familial X-linked hypophosphatemic vitamin D refractory rickets rs754449807, rs1556010757, rs1602405176, rs886041363, rs1569442206, rs886041359, rs1602274950, rs1556128253, rs137853268, rs1556138742, rs1556020752, rs1602273769, rs1064793956, rs1602324630, rs875989883
View all (145 more)
N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Tourette Syndrome Tourette syndrome N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Achard syndrome Associate 19010064
Achondroplasia Associate 28880715
Arthritis Associate 33168080
Bone Diseases Metabolic Associate 31567381
Breast Neoplasms Inhibit 26474971
Carcinogenesis Associate 38148081
Cartilage Diseases Associate 26362198
Chronic Kidney Disease Mineral and Bone Disorder Associate 34593293
Disease Associate 18162710
Familial Hypophosphatemic Rickets Associate 12711740, 18162710, 18625346, 18701809, 21293852, 21597229, 21902834, 23325605, 23451077, 24684036, 24836714, 25042154, 26040324, 26107949, 27840894
View all (34 more)