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Homo sapiens heparanase 2 (HPSE2), transcript variant 1, mRNA.

RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_021828 Homo sapiens heparanase 2 (HPSE2), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $849.00 20

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RefSeq Version NM_021828.4, 261878500
Length 4349 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens heparanase 2 (HPSE2), transcript variant 1, mRNA.
Product inactive heparanase-2 isoform 1

Summary: This gene encodes a heparanase enzyme. The encoded protein is a endoglycosidase that degrades heparin sulfate proteoglycans located on the extracellular matrix and cell surface. This protein may be involved in biological processes involving remodeling of the extracellular matrix including angiogenesis and tumor progression. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009].

Transcript Variant: This variant (1) encodes the longest isoform (1).

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

RefSeq NP_068600.4
CDS 74..1852
Misc Feature(1)71..73
Misc Feature(2)<839..1297
Misc Feature(3)<839..1297
Exon (1)1..363
Gene Synonym:HPA2; HPR2; UFS; UFS1
Exon (2)364..521
Gene Synonym:HPA2; HPR2; UFS; UFS1
Exon (3)522..683
Gene Synonym:HPA2; HPR2; UFS; UFS1
Exon (4)684..857
Gene Synonym:HPA2; HPR2; UFS; UFS1
Exon (5)858..1029
Gene Synonym:HPA2; HPR2; UFS; UFS1
Exon (6)1030..1077
Gene Synonym:HPA2; HPR2; UFS; UFS1
Exon (7)1078..1171
Gene Synonym:HPA2; HPR2; UFS; UFS1
Exon (8)1172..1278
Gene Synonym:HPA2; HPR2; UFS; UFS1
Exon (9)1279..1393
Gene Synonym:HPA2; HPR2; UFS; UFS1
Exon (10)1394..1539
Gene Synonym:HPA2; HPR2; UFS; UFS1
Exon (11)1540..1686
Gene Synonym:HPA2; HPR2; UFS; UFS1
Exon (12)1687..4349
Gene Synonym:HPA2; HPR2; UFS; UFS1
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Position Chain Variation Link
complement(39)-g, adbSNP:191143503
complement(84)-g, adbSNP:149915031
complement(90)-t, gdbSNP:139348877
complement(111)-g, adbSNP:202126356
complement(117)-t, cdbSNP:199876526
complement(123)-c, adbSNP:200747591
complement(128)-g, c, adbSNP:78935940
complement(135)-t, cdbSNP:143816972
complement(157)-g, adbSNP:200734371
complement(192)-t, gdbSNP:201180054
complement(200)-t, cdbSNP:139340706
complement(204)-t, cdbSNP:202168816
complement(218)-t, cdbSNP:199531515
complement(333)-g, adbSNP:140162468
complement(346)-t, gdbSNP:115042847
complement(455)-g, adbSNP:11593055
complement(493)-g, cdbSNP:200428269
complement(527)-t, cdbSNP:201588272
530+c, tdbSNP:267606865
complement(565)-g, adbSNP:142763006
complement(595)-t, cdbSNP:200038077
complement(646)-t, cdbSNP:148098032
complement(704)-g, adbSNP:147866530
complement(771)-t, cdbSNP:149384712
complement(786)-t, cdbSNP:138827531
complement(800)-t, adbSNP:188784527
complement(955)-c, adbSNP:202038196
complement(968)-t, cdbSNP:142102360
complement(1000)-t, cdbSNP:200916817
complement(1015)-g, cdbSNP:142810016
complement(1016)-t, cdbSNP:17110744
complement(1019)-g, adbSNP:146258153
complement(1095)-t, cdbSNP:140694252
complement(1128)-t, cdbSNP:150939842
complement(1227)-g, adbSNP:200583760
complement(1241)-t, cdbSNP:146794713
complement(1267)-g, adbSNP:111762231
complement(1280)-g, adbSNP:148842469
complement(1316)-t, cdbSNP:199706656
complement(1421)-g, adbSNP:200599636
complement(1465)-g, cdbSNP:146698468
complement(1476)-g, adbSNP:143754332
complement(1480)-t, cdbSNP:201908403
1487+c, tdbSNP:267606864
complement(1501)-g, adbSNP:141037591
complement(1527)-t, gdbSNP:78773769
complement(1539)-t, cdbSNP:199616956
complement(1549)-g, adbSNP:140154839
complement(1550)-t, cdbSNP:146633667
complement(1553)-g, adbSNP:144545292
complement(1554)-t, cdbSNP:200525907
complement(1562)-t, cdbSNP:139242637
1589+c, tdbSNP:267606866
complement(1604)-t, cdbSNP:150817364
complement(1665)-t, cdbSNP:141422695
complement(1691)-g, cdbSNP:140066668
complement(1712)-g, adbSNP:147273039
complement(1726)-g, adbSNP:142803464
complement(1729)-g, adbSNP:202127938
complement(1740)-g, adbSNP:138866975
complement(1754)-t, gdbSNP:201787008
complement(1772)-g, adbSNP:146116710
complement(1809)-t, adbSNP:10883100
complement(1842)-t, cdbSNP:138098027
complement(1869)-g, adbSNP:10883099
complement(1909)-g, adbSNP:151176990
complement(1921)-t, gdbSNP:35712968
complement(1939)-g, cdbSNP:190228332
complement(2002)-t, gdbSNP:60830323
complement(2078)-t, cdbSNP:148675038
complement(2117)-g, adbSNP:112735875
complement(2122)-t, adbSNP:114885354
complement(2138)-g, adbSNP:184546216
complement(2288)-t, gdbSNP:17457493
complement(2297)-t, cdbSNP:192218941
complement(2308)-t, cdbSNP:146000087
complement(2417)-g, adbSNP:1060445
complement(2451)-t, cdbSNP:3179357
complement(2462)-g, cdbSNP:1060446
complement(2487)-g, adbSNP:144073598
complement(2491)-g, cdbSNP:139422316
complement(2651)-g, adbSNP:1060447
complement(2798)-t, cdbSNP:116701075
complement(2801)-g, adbSNP:10786427
complement(2850)-t, cdbSNP:17109911
complement(2852)-g, adbSNP:114591152
complement(2905..2906)-, adbSNP:34790086
complement(2988)-g, cdbSNP:10883098
complement(3124)-c, adbSNP:4917836
complement(3160)-t, cdbSNP:11593448
complement(3166)-g, adbSNP:12269710
complement(3192)-t, gdbSNP:186589995
complement(3211)-t, cdbSNP:4917835
complement(3219..3220)-, tdbSNP:140887054
complement(3253)-g, adbSNP:11599904
complement(3259)-g, cdbSNP:75115624
complement(3304)-g, adbSNP:4917834
complement(3375)-t, cdbSNP:4917833
complement(3444)-g, cdbSNP:4917832
complement(3454)-t, cdbSNP:184120747
complement(3490)-g, adbSNP:58534010
complement(3491)-t, cdbSNP:4917831
complement(3574)-c, adbSNP:75584607
complement(3611)-g, adbSNP:4919228
complement(3663)-g, adbSNP:59842719
complement(3684)-c, adbSNP:150649341
complement(3716)-g, adbSNP:141887539
complement(3765)-t, cdbSNP:191656902
complement(3939)-t, cdbSNP:74902668
complement(3976)-t, cdbSNP:10786426
complement(4006)-g, adbSNP:74156611
complement(4031)-g, adbSNP:117572970
complement(4033)-g, cdbSNP:148152580
complement(4037)-t, cdbSNP:12778249
complement(4209)-t, adbSNP:78986047
complement(4210)-t, adbSNP:75469488
complement(4218..4219)-, adbSNP:143986616
complement(4285)-g, cdbSNP:4611143
Gene SymbolHPSE2
Gene SynonymHPA2; HPR2; UFS; UFS1
Locus Map10q23-q24
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001166244 Homo sapiens heparanase 2 (HPSE2), transcript variant 2, mRNA. On-demand $699.00 18
NM_001166245 Homo sapiens heparanase 2 (HPSE2), transcript variant 3, mRNA. On-demand $699.00 18
NM_001166246 Homo sapiens heparanase 2 (HPSE2), transcript variant 4, mRNA. On-demand $699.00 18
NM_021828 Homo sapiens heparanase 2 (HPSE2), transcript variant 1, mRNA. On-demand $849.00 20
Title First HPSE2 missense mutation in urofacial syndrome .
Author Mahmood,S., Beetz,C., Tahir,M.M., Imran,M., Mumtaz,R., Bassmann,I., Jahic,A., Malik,M., Nurnberg,G., Hassan,S.A., Rana,S., Nurnberg,P. and Hubner,C.A.
Journal Clin. Genet. 81 (1), 88-92 (2012)
Title Exome capture and massively parallel sequencing identifies a novel HPSE2 mutation in a Saudi Arabian child with Ochoa (urofacial) syndrome .
Author Al Badr,W., Al Bader,S., Otto,E., Hildebrandt,F., Ackley,T., Peng,W., Xu,J., Li,J., Owens,K.M., Bloom,D. and Innis,J.W.
Journal J Pediatr Urol 7 (5), 569-573 (2011)
Title A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci .
Author Bradfield,J.P., Qu,H.Q., Wang,K., Zhang,H., Sleiman,P.M., Kim,C.E., Mentch,F.D., Qiu,H., Glessner,J.T., Thomas,K.A., Frackelton,E.C., Chiavacci,R.M., Imielinski,M., Monos,D.S., Pandey,R., Bakay,M., Grant,S.F., Polychronakos,C. and Hakonarson,H.
Journal PLoS Genet. 7 (9), E1002293 (2011)
Title The heparanase system and tumor metastasis: is heparanase the seed and soil? .
Author Arvatz,G., Shafat,I., Levy-Adam,F., Ilan,N. and Vlodavsky,I.
Journal Cancer Metastasis Rev. 30 (2), 253-268 (2011)
Title Loss-of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial Syndrome .
Author Pang,J., Zhang,S., Yang,P., Hawkins-Lee,B., Zhong,J., Zhang,Y., Ochoa,B., Agundez,J.A., Voelckel,M.A., Gu,W., Xiong,W.C., Mei,L., She,J.X. and Wang,C.Y.
Journal Am. J. Hum. Genet. (2010) In press
Title A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease .
Author Grupe,A., Li,Y., Rowland,C., Nowotny,P., Hinrichs,A.L., Smemo,S., Kauwe,J.S., Maxwell,T.J., Cherny,S., Doil,L., Tacey,K., van Luchene,R., Myers,A., Wavrant-De Vrieze,F., Kaleem,M., Hollingworth,P., Jehu,L., Foy,C., Archer,N., Hamilton,G., Holmans,P., Morris,C.M., Catanese,J., Sninsky,J., White,T.J., Powell,J., Hardy,J., O'Donovan,M., Lovestone,S., Jones,L., Morris,J.C., Thal,L., Owen,M., Williams,J. and Goate,A.
Journal Am. J. Hum. Genet. 78 (1), 78-88 (2006)
Title Cloning and expression profiling of Hpa2, a novel mammalian heparanase family member .
Author McKenzie,E., Tyson,K., Stamps,A., Smith,P., Turner,P., Barry,R., Hircock,M., Patel,S., Barry,E., Stubberfield,C., Terrett,J. and Page,M.
Journal Biochem. Biophys. Res. Commun. 276 (3), 1170-1177 (2000)
Title Construction of a physical and transcript map for a 1-Mb genomic region containing the urofacial (Ochoa) syndrome gene on 10q23-q24 and localization of the disease gene within two overlapping BAC clones (<360 kb) .
Author Wang,C.Y., Shi,J.D., Huang,Y.Q., Cruz,P.E., Ochoa,B., Hawkins-Lee,B., Davoodi-Semiromi,A. and She,J.X.
Journal Genomics 60 (1), 12-19 (1999)
Title Genetic homogeneity, high-resolution mapping, and mutation analysis of the urofacial (Ochoa) syndrome and exclusion of the glutamate oxaloacetate transaminase gene (GOT1) in the critical region as the disease gene .
Author Wang,C.Y., Huang,Y.Q., Shi,J.D., Marron,M.P., Ruan,Q.G., Hawkins-Lee,B., Ochoa,B. and She,J.X.
Journal Am. J. Med. Genet. 84 (5), 454-459 (1999)
Title Homozygosity and linkage-disequilibrium mapping of the urofacial (Ochoa) syndrome gene to a 1-cM interval on chromosome 10q23-q24 .
Author Wang,C.Y., Hawkins-Lee,B., Ochoa,B., Walker,R.D. and She,J.X.
Journal Am. J. Hum. Genet. 60 (6), 1461-1467 (1997)

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