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Database:

Blast Method:

 
 


Homo sapiens phosphate regulating endopeptidase homolog, X-linked (PHEX), mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000444 Homo sapiens phosphate regulating endopeptidase homolog, X-linked (PHEX), mRNA. GenEZ ORF Cloning In-stock $639.00 $590.00 15

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RefSeq Version NM_000444.4, 181336426
Length 2861 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens phosphate regulating endopeptidase homolog, X-linked (PHEX), mRNA.
Product phosphate-regulating neutral endopeptidase
Comment

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. Mutations in this gene cause X-linked hypophosphatemic rickets. [provided by RefSeq, Jul 2008].


Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments.

RefSeq NP_000435.3
CDS 204..2453
Misc Feature(1)168..170
Misc Feature(2)264..326
Misc Feature(3)264..326
Misc Feature(4)402..2426
Misc Feature(5)423..2444
Misc Feature(6)order(1815..1820,1932..1934,1941..1946,1953..1955,
Misc Feature(7)order(1941..1943,1953..1955,2127..2129)
Exon (1)1..321
Gene:PHEX
Gene Synonym:HPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH
Exon (2)322..390
Gene:PHEX
Gene Synonym:HPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH
Exon (3)391..552
Gene:PHEX
Gene Synonym:HPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH
Exon (4)553..639
Gene:PHEX
Gene Synonym:HPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH
Exon (5)640..866
Gene:PHEX
Gene Synonym:HPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH
Exon (6)867..935
Gene:PHEX
Gene Synonym:HPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH
Exon (7)936..1052
Gene:PHEX
Gene Synonym:HPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH
Exon (8)1053..1136
Gene:PHEX
Gene Synonym:HPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH
Exon (9)1137..1282
Gene:PHEX
Gene Synonym:HPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH
Exon (10)1283..1376
Gene:PHEX
Gene Synonym:HPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH
Exon (11)1377..1505
Gene:PHEX
Gene Synonym:HPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH
Exon (12)1506..1607
Gene:PHEX
Gene Synonym:HPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH
Exon (13)1608..1685
Gene:PHEX
Gene Synonym:HPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH
Exon (14)1686..1789
Gene:PHEX
Gene Synonym:HPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH
Exon (15)1790..1848
Gene:PHEX
Gene Synonym:HPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH
Exon (16)1849..1903
Gene:PHEX
Gene Synonym:HPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH
Exon (17)1904..1971
Gene:PHEX
Gene Synonym:HPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH
Exon (18)1972..2102
Gene:PHEX
Gene Synonym:HPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH
Exon (19)2103..2168
Gene:PHEX
Gene Synonym:HPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH
Exon (20)2169..2273
Gene:PHEX
Gene Synonym:HPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH
Exon (21)2274..2350
Gene:PHEX
Gene Synonym:HPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH
Exon (22)2351..2861
Gene:PHEX
Gene Synonym:HPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH
Translation MEAETGSSVETGKKANRGTRIALVVFVGGTLVLGTILFLVSQGLLSLQAKQEYCLKPECI EAAAAILSKVNLSVDPCDNFFRFACDGWISNNPIPEDMPSYGVYPWLRHNVDLKLKELLE KSISRRRDTEAIQKAKILYSSCMNEKAIEKADAKPLLHILRHSPFRWPVLESNIGPEGVW SERKFSLLQTLATFRGQYSNSVFIRLYVSPDDKASNEHILKLDQATLSLAVREDYLDNST EAKSYRDALYKFMVDTAVLLGANSSRAEHDMKSVLRLEIKIAEIMIPHENRTSEAMYNKM NISELSAMIPQFDWLGYIKKVIDTRLYPHLKDISPSENVVVRVPQYFKDLFRILGSERKK TIANYLVWRMVYSRIPNLSRRFQYRWLEFSRVIQGTTTLLPQWDKCVNFIESALPYVVGK MFVDVYFQEDKKEMMEELVEGVRWAFIDMLEKENEWMDAGTKRKAKEKARAVLAKVGYPE FIMNDTHVNEDLKAIKFSEADYFGNVLQTRKYLAQSDFFWLRKAVPKTEWFTNPTTVNAF YSASTNQIRFPAGELQKPFFWGTEYPRSLSYGAIGVIVGHEFTHGFDNNGRKYDKNGNLD PWWSTESEEKFKEKTKCMINQYSNYYWKKAGLNVKGKRTLGENIADNGGLREAFRAYRKW INDRRQGLEEPLLPGITFTNNQLFFLSYAHVRCNSYRPEAAREQVQIGAHSPPQFRVNGA ISNFEEFQKAFNCPPNSTMNRGMDSCRLW
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Position Chain Variation Link
58+dbSNP:
58+a, gdbSNP:192414303
78+c, gdbSNP:185830047
83..84+, gdbSNP:35301418
96+a, gdbSNP:149541983
114+a, gdbSNP:178710
167+g, tdbSNP:201391816
171+c, tdbSNP:5951494
186+c, tdbSNP:201251651
213+c, gdbSNP:147859619
262..263+, adbSNP:34610947
284+c, tdbSNP:139862893
345+dbSNP:
345+c, gdbSNP:202074612
388+c, tdbSNP:145393882
429+dbSNP:
429+c, gdbSNP:201394441
452+c, tdbSNP:145224279
457+a, gdbSNP:137853269
489+a, gdbSNP:149168023
491+a, gdbSNP:112836831
521+a, gdbSNP:193922458
600+dbSNP:
600+c, gdbSNP:151306376
622+c, tdbSNP:140678356
647+dbSNP:
647+c, tdbSNP:145881500
685+a, gdbSNP:138497409
692+a, gdbSNP:140231382
700+a, gdbSNP:150297950
708+a, gdbSNP:187824835
740+a, tdbSNP:137961493
828..829+, cdbSNP:36117823
893+dbSNP:
893+c, tdbSNP:149487757
928+c, gdbSNP:144007621
954+dbSNP:
954+a, gdbSNP:138813035
958+c, tdbSNP:267606945
962+a, gdbSNP:267606946
974+c, tdbSNP:142833404
985+a, gdbSNP:113219043
1033+a, tdbSNP:137853268
1043+a, gdbSNP:147430384
1070+dbSNP:
1070+a, gdbSNP:139771307
1088..1089+, ccdbSNP:193922460
1104+a, cdbSNP:199893153
1106+c, tdbSNP:142755818
1121+c, tdbSNP:150619847
1174+dbSNP:
1174+c, tdbSNP:199965602
1185+c, gdbSNP:201383931
1199+c, tdbSNP:139749399
1217+c, tdbSNP:149793221
1282+a, gdbSNP:185862803
1405+dbSNP:
1405+c, tdbSNP:145778165
1409+a, gdbSNP:151234075
1547+dbSNP:
1547+c, tdbSNP:144911719
1562+a, cdbSNP:202164519
1586+a, gdbSNP:77710864
1640+dbSNP:
1640+a, gdbSNP:141436752
1748+dbSNP:
1748+c, gdbSNP:201266084
1792+dbSNP:
1792+a, gdbSNP:193922455
1819+c, tdbSNP:199935279
1859+dbSNP:
1859+a, gdbSNP:143427381
1867+c, tdbSNP:137853270
1902+c, tdbSNP:137853271
1907+dbSNP:
1907+c, tdbSNP:112728394
2021+dbSNP:
2021+a, gdbSNP:146055519
2119+dbSNP:
2119+a, cdbSNP:111636676
2120+a, cdbSNP:201343697
2152+c, tdbSNP:193922456
2202+dbSNP:
2202+g, tdbSNP:193922457
2224+a, cdbSNP:199517401
2232+a, gdbSNP:112577880
2271+a, cdbSNP:200733697
2356+dbSNP:
2356+a, gdbSNP:191028600
2417+a, gdbSNP:140742016
2438+c, gdbSNP:150112217
2443+a, gdbSNP:138773278
2511+c, tdbSNP:183223600
2524+a, gdbSNP:186466573
2671+a, cdbSNP:141594056
2758+a, gdbSNP:189715720
2814+c, tdbSNP:182654518
Gene SymbolPHEX
Gene SynonymHPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH
ChromosomeX
Locus MapXp22.2-p22.1
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000444 Homo sapiens phosphate regulating endopeptidase homolog, X-linked (PHEX), mRNA. In-stock $639.00 $590.00 15
Title Novel and de novo PHEX mutations in patients with hypophosphatemic rickets .
Author Durmaz,E., Zou,M., Al-Rijjal,R.A., Baitei,E.Y., Hammami,S., Bircan,I., Akcurin,S., Meyer,B. and Shi,Y.
Journal Bone 52 (1), 286-291 (2013)
Title Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients .
Author Kennedy,R.B., Ovsyannikova,I.G., Pankratz,V.S., Haralambieva,I.H., Vierkant,R.A. and Poland,G.A.
Journal Hum. Genet. 131 (9), 1403-1421 (2012)
Title Genome-wide association study of Tourette's syndrome .
Author Scharf,J.M., Yu,D., Mathews,C.A., Neale,B.M., Stewart,S.E., Fagerness,J.A., Evans,P., Gamazon,E., Edlund,C.K., Service,S.K., Tikhomirov,A., Osiecki,L., Illmann,C., Pluzhnikov,A., Konkashbaev,A., Davis,L.K., Han,B., Crane,J., Moorjani,P., Crenshaw,A.T., Parkin,M.A., Reus,V.I., Lowe,T.L., Rangel-Lugo,M., Chouinard,S., Dion,Y., Girard,S., Cath,D.C., Smit,J.H., King,R.A., Fernandez,T.V., Leckman,J.F., Kidd,K.K., Kidd,J.R., Pakstis,A.J., State,M.W., Herrera,L.D., Romero,R., Fournier,E., Sandor,P., Barr,C.L., Phan,N., Gross-Tsur,V., Benarroch,F., Pollak,Y., Budman,C.L., Bruun,R.D., Erenberg,G., Naarden,A.L., Lee,P.C., Weiss,N., Kremeyer,B., Berrio,G.B., Campbell,D.D., Cardona Silgado,J.C., Ochoa,W.C., Mesa Restrepo,S.C., Muller,H., Valencia Duarte,A.V., Lyon,G.J., Leppert,M., Morgan,J., Weiss,R., Grados,M.A., Anderson,K., Davarya,S., Singer,H., Walkup,J., Jankovic,J., Tischfield,J.A., Heiman,G.A., Gilbert,D.L., Hoekstra,P.J., Robertson,M.M., Kurlan,R., Liu,C., Gibbs,J.R., Singleton,A., Hardy,J., Strengman,E., Ophoff,R.A., Wagner,M., Moessner,R., Mirel,D.B., Posthuma,D., Sabatti,C., Eskin,E., Conti,D.V., Knowles,J.A., Ruiz-Linares,A., Rouleau,G.A., Purcell,S., Heutink,P., Oostra,B.A., McMahon,W.M., Freimer,N.B., Cox,N.J. and Pauls,D.L.
Journal Mol. Psychiatry (2012) In press
Title Three novel PHEX gene mutations in four Chinese families with X-linked dominant hypophosphatemic rickets .
Author Kang,Q.L., Xu,J., Zhang,Z., He,J.W., Lu,L.S., Fu,W.Z. and Zhang,Z.L.
Journal Biochem. Biophys. Res. Commun. 423 (4), 793-798 (2012)
Title Mutational analysis of PHEX, FGF23, DMP1, SLC34A3 and CLCN5 in patients with hypophosphatemic rickets .
Author Beck-Nielsen,S.S., Brixen,K., Gram,J. and Brusgaard,K.
Journal J. Hum. Genet. 57 (7), 453-458 (2012)
Title Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP) .
Author Rowe,P.S., Oudet,C.L., Francis,F., Sinding,C., Pannetier,S., Econs,M.J., Strom,T.M., Meitinger,T., Garabedian,M., David,A., Macher,M.A., Questiaux,E., Popowska,E., Pronicka,E., Read,A.P., Mokrzycki,A., Glorieux,F.H., Drezner,M.K., Hanauer,A., Lehrach,H., Goulding,J.N. and O'Riordan,J.L.
Journal Hum. Mol. Genet. 6 (4), 539-549 (1997)
Title Pex/PEX tissue distribution and evidence for a deletion in the 3' region of the Pex gene in X-linked hypophosphatemic mice .
Author Beck,L., Soumounou,Y., Martel,J., Krishnamurthy,G., Gauthier,C., Goodyer,C.G. and Tenenhouse,H.S.
Journal J. Clin. Invest. 99 (6), 1200-1209 (1997)
Title Expression and cloning of the human X-linked hypophosphatemia gene cDNA .
Author Grieff,M., Mumm,S., Waeltz,P., Mazzarella,R., Whyte,M.P., Thakker,R.V. and Schlessinger,D.
Journal Biochem. Biophys. Res. Commun. 231 (3), 635-639 (1997)
Title A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP Consortium .
Author .
Journal Nat. Genet. 11 (2), 130-136 (1995)
Title The human glycine receptor: a new probe that is linked to the X-linked hypophosphatemic rickets gene .
Author Econs,M.J., Pericak-Vance,M.A., Betz,H., Bartlett,R.J., Speer,M.C. and Drezner,M.K.
Journal Genomics 7 (3), 439-441 (1990)


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