Property Summary

NCBI Gene PubMed Count 90
Grant Count 313
R01 Count 172
Funding $38,166,275.65
PubMed Score 1694.38
PubTator Score 238.57

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (8)

Disease log2 FC p
osteosarcoma 1.806 0.036
chronic lymphosyte leukemia 1.600 0.000
posterior fossa group B ependymoma 2.500 0.000
glioblastoma 1.500 0.002
adult high grade glioma 1.300 0.013
pilocytic astrocytoma 1.100 0.006
lung carcinoma -1.400 0.000
psoriasis 1.500 0.000

Synonym

Accession P78562 O00678 Q13646 Q2M325 Q93032 Q99827
Symbols HYP
PEX
XLH
HPDR
HYP1
LXHR
HPDR1

Gene

PANTHER Protein Class (3)

Pathway (1)

Gene RIF (44)

PMID Text
26362198 Downregulation of PHEX may constitute an important early component of bone loss and joint damage in leprosy
26107949 A new splice acceptor mutation was seen in intron 9 (c.1080-3C>A) in a family with hypophosphatemic rickets. This transcript skipped exons 10-14. A sporadic case had a new exon 11 mutation (c.1211_1215delACAAAinsTTTACAT, p.Asp404Valfs*5, de novo).
26051471 This report that mutations in PHEX are the most frequent cause of hypophosphatemic rickets
25839938 A novel de novo nonsense mutation of the PHEX gene has been identified in Chinese family expanding the mutation spectrum of PHEX leading to X-linked hypophosphatemic rickets.
25042154 PHEX c.*231A > G can masquerade as sporadic or X-linked recessive HR.
24857004 exon 22 is the mutation hot spot and missense mutation is the most common type of mutation in the PHEX gene in Chinese X-link dominate hypophosphatemic rickets (XLH) patients
24836714 Two novel mutations were detected unrelated families with hypophosphatemic rickets.
24078575 The c.732+1G>T mutation of PHEX is associated with hypophosphatasia pedigree.
23813354 15 PHEX mutations have been reported in Chinese populations with X-linked hypophosphatemic rickets
23079138 study shows that PHEX mutation is a common cause of either familial or sporadic hypophosphatemic rickets in Turkish population
More...

AA Sequence

MEAETGSSVETGKKANRGTRIALVVFVGGTLVLGTILFLVSQGLLSLQAKQEYCLKPECIEAAAAILSKV      1 - 70
NLSVDPCDNFFRFACDGWISNNPIPEDMPSYGVYPWLRHNVDLKLKELLEKSISRRRDTEAIQKAKILYS     71 - 140
SCMNEKAIEKADAKPLLHILRHSPFRWPVLESNIGPEGVWSERKFSLLQTLATFRGQYSNSVFIRLYVSP    141 - 210
DDKASNEHILKLDQATLSLAVREDYLDNSTEAKSYRDALYKFMVDTAVLLGANSSRAEHDMKSVLRLEIK    211 - 280
IAEIMIPHENRTSEAMYNKMNISELSAMIPQFDWLGYIKKVIDTRLYPHLKDISPSENVVVRVPQYFKDL    281 - 350
FRILGSERKKTIANYLVWRMVYSRIPNLSRRFQYRWLEFSRVIQGTTTLLPQWDKCVNFIESALPYVVGK    351 - 420
MFVDVYFQEDKKEMMEELVEGVRWAFIDMLEKENEWMDAGTKRKAKEKARAVLAKVGYPEFIMNDTHVNE    421 - 490
DLKAIKFSEADYFGNVLQTRKYLAQSDFFWLRKAVPKTEWFTNPTTVNAFYSASTNQIRFPAGELQKPFF    491 - 560
WGTEYPRSLSYGAIGVIVGHEFTHGFDNNGRKYDKNGNLDPWWSTESEEKFKEKTKCMINQYSNYYWKKA    561 - 630
GLNVKGKRTLGENIADNGGLREAFRAYRKWINDRRQGLEEPLLPGITFTNNQLFFLSYAHVRCNSYRPEA    631 - 700
AREQVQIGAHSPPQFRVNGAISNFEEFQKAFNCPPNSTMNRGMDSCRLW                         701 - 749
//

Text Mined References (89)

PMID Year Title
26362198 2015 Downregulation of PHEX in multibacillary leprosy patients: observational cross-sectional study.
26107949 2015 Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets.
26051471 2015 Clinical and molecular heterogeneity in a large series of patients with hypophosphatemic rickets.
25839938 2015 Novel de novo nonsense mutation of the PHEX gene (p.Lys50Ter) in a Chinese patient with hypophosphatemic rickets.
25042154 2015 PHEX 3'-UTR c.*231A>G near the polyadenylation signal is a relatively common, mild, American mutation that masquerades as sporadic or X-linked recessive hypophosphatemic rickets.
24857004 2014 [Three PHEX gene mutations in Chinese subjects with hypophosphatemic rickets and literature review].
24836714 2014 Identification of two novel mutations in the PHEX gene in Chinese patients with hypophosphatemic rickets/osteomalacia.
24489884 2014 Genome-wide association study of proneness to anger.
24078575 2013 [Analysis of PHEX gene mutation in a hypophosphatasia pedigree].
23813354 2013 PHEX gene mutation in a Chinese family with six cases of X-linked hypophosphatemic rickets.
More...