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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
545
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autosomal dominant hypophosphatemic rickets Likely pathogenic; Pathogenic rs886041227 RCV002221523
Bowing of the legs Pathogenic rs1057518896 RCV000414906
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
RCV002246375
RCV002246373
RCV005250190
RCV002246431
RCV001580138
RCV002246537
RCV001837613
RCV005253896
RCV002246564
RCV004796677
RCV005238112
RCV002246619
RCV004785457
RCV005238117
RCV002246658
RCV005238031
RCV005238059
RCV005406199
RCV002221709
RCV002227912
RCV002227913
RCV002249123
RCV002250188
RCV002250189
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RCV002250220
RCV002250221
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RCV002251155
RCV002283599
RCV002283903
RCV002466772
RCV002468763
RCV002472188
RCV002470346
RCV000211521
RCV003108250
RCV003159275
RCV000011561
RCV000011562
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RCV000011564
RCV000011566
RCV000011569
RCV005238810
RCV000505394
RCV000505494
RCV004782334
RCV002248502
RCV000505449
RCV005044520
RCV000763206
RCV000505461
RCV000505469
RCV000505421
RCV004545878
RCV002265718
RCV001169961
RCV000990538
RCV000505481
RCV005208132
RCV000505473
RCV002250611
RCV000505395
RCV000505471
RCV003236696
RCV003314522
RCV003317745
RCV003324632
RCV003338189
RCV003388314
RCV003447903
RCV003448534
RCV004545895
RCV004545896
RCV004545897
RCV004545900
RCV004545901
RCV004545902
RCV005047757
RCV003882746
RCV003991371
RCV003992000
RCV004595023
RCV006277825
RCV004545879
RCV005055012
RCV000505415
RCV000505445
RCV006449272
RCV000678304
RCV000505406
RCV002250634
RCV005044721
RCV002248710
RCV000505413
RCV005239093
RCV005056076
RCV001196900
RCV000505430
RCV000505464
RCV000505418
RCV000505463
RCV000505410
RCV000505506
RCV000505416
RCV000505475
RCV000505492
RCV000505398
RCV000505454
RCV000505444
RCV000505432
RCV000505462
RCV000505478
RCV000505459
RCV000505501
RCV000505412
RCV000505397
RCV000505485
RCV000505479
RCV000505490
RCV000505409
RCV000505488
RCV000505496
RCV000505455
RCV000505443
RCV000505503
RCV000505400
RCV000505450
RCV000505437
RCV000505495
RCV000505436
RCV000505408
RCV000505489
RCV000505407
RCV000505458
RCV000505497
RCV000505433
RCV000505422
RCV000505483
RCV000505403
RCV000505425
RCV000505466
RCV000505419
RCV000505502
RCV000505487
RCV000505405
RCV000505440
RCV000505392
RCV000505451
RCV000505491
RCV000505402
RCV000505426
RCV000505472
RCV000505429
RCV000505482
RCV000505457
RCV000505417
RCV000505391
RCV000505447
RCV000505399
RCV000505505
RCV000505480
RCV000505467
RCV000505438
RCV000505441
RCV000505476
RCV000505453
RCV000990540
RCV000990519
RCV000030352
RCV000030353
RCV000030354
RCV000030355
RCV000030356
RCV000030357
RCV000030358
RCV005864517
RCV000625611
RCV000761325
RCV000761326
RCV000850582
RCV000990502
RCV000990503
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RCV000990505
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RCV000990525
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RCV000990545
RCV000990546
RCV000990547
RCV000990548
RCV000990549
RCV000990550
RCV002249607
RCV001029917
RCV001029876
RCV001030004
RCV001271108
RCV002249806
RCV004761994
RCV002225128
RCV005866871
RCV003994232
RCV003479295
RCV003326144
RCV002246226
RCV005236706
RCV001810001
RCV005236712
RCV001254910
RCV001293726
Hypophosphataemia or rickets Pathogenic rs1569364701 RCV006278057
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign; Likely benign rs137961493 RCV005900609
Cholangiocarcinoma Benign rs16981826 RCV005919968
Gastric cancer Benign rs12014792 RCV005900612
Intellectual disability Conflicting classifications of pathogenicity rs145778165 RCV005625509
Associations from Text MiningDisease 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)