Gene Gene information from NCBI Gene database.
Entrez ID 5251
Gene name Phosphate regulating endopeptidase X-linked
Gene symbol PHEX
Synonyms (NCBI Gene)
HPDRHPDR1HYPHYP1LXHRPEXXLH
Chromosome X
Chromosome location Xp22.11
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.
SNPs SNP information provided by dbSNP.
163
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.
558
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
36
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300550 8918 ENSG00000102174
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
26
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Autosomal dominant hypophosphatemic rickets Likely pathogenic; Pathogenic rs886041227 RCV002221523
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bowing of the legs Pathogenic rs1057518896 RCV000414906
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial X-linked hypophosphatemic vitamin D refractory rickets Likely pathogenic; Pathogenic rs1064795147, rs2147183142, rs2147040261, rs2147047585, rs1064793227, rs2147065556, rs1341755128, rs2147184823, rs1602405079, rs2147019297, rs886041374, rs2146979520, rs2147184570, rs2147174569, rs1321395083
View all (238 more)
RCV001331239
RCV005429195
RCV003235569
RCV005237771
RCV002246374
View all (267 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypophosphataemia or rickets Pathogenic rs1569364701 RCV006278057
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Cervical cancer Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Achondroplasia Achondroplasia Pubtator 28880715 Associate
★☆☆☆☆
Found in Text Mining only
Adult Rickets Rickets BEFREE 27270332, 2811660, 28728941, 28880715, 30711691, 31392510
★☆☆☆☆
Found in Text Mining only
Adult Rickets Rickets HPO_DG
★☆☆☆☆
Found in Text Mining only
Arnold-Chiari Malformation, Type I Arnold-Chiari malformation BEFREE 31392510
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis Pubtator 33168080 Associate
★☆☆☆☆
Found in Text Mining only
Arthritis, Psoriatic Psoriatic Arthritis BEFREE 25042154
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 30933945
★☆☆☆☆
Found in Text Mining only
Autosomal dominant hypophosphatemic rickets Hypophosphatemic Rickets BEFREE 11595624, 23403405
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive hypophosphatemic vitamin D refractory rickets Hypophosphatemic Vitamin D Refractory Rickets, X-Linked BEFREE 23403405, 24102521
★☆☆☆☆
Found in Text Mining only
Bone Diseases Metabolic Bone disease Pubtator 31567381 Associate
★☆☆☆☆
Found in Text Mining only