Homo sapiens heparanase 2 (HPSE2), transcript variant 1, mRNA.
| RefSeq Version | NM_021828.4, 261878500 |
| Length | 4349 bp |
| Structure | linear |
| Update Date | 24-MAR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens heparanase 2 (HPSE2), transcript variant 1, mRNA. |
| Product | heparanase-2 isoform 1 |
| Comment | 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]. 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 | Exon (1) | 1..363 | Exon (2) | 1..363 | Exon (3) | 364..521 | Exon (4) | 522..683 | Exon (5) | 684..857 | Exon (6) | 858..1029 | Exon (7) | 1030..1077 | Exon (8) | 1078..1171 | Exon (9) | 1172..1278 | Exon (10) | 1279..1393 | Exon (11) | 1394..1539 | Exon (12) | 1540..1686 | Exon (13) | 1687..4349 |
| Translation | MRVLCAFPEAMPSSNSRPPACLAPGALYLALLLHLSLSSQAGDRRPLPVDRAAGLKEKTL
ILLDVSTKNPVRTVNENFLSLQLDPSIIHDGWLDFLSSKRLVTLARGLSPAFLRFGGKRT
DFLQFQNLRNPAKSRGGPGPDYYLKNYEDDIVRSDVALDKQKGCKIAQHPDVMLELQREK
AAQMHLVLLKEQFSNTYSNLILTARSLDKLYNFADCSGLHLIFALNALRRNPNNSWNSSS
ALSLLKYSASKKYNISWELGNEPNNYRTMHGRAVNGSQLGKDYIQLKSLLQPIRIYSRAS
LYGPNIGRPRKNVIALLDGFMKVAGSTVDAVTWQHCYIDGRVVKVMDFLKTRLLDTLSDQ
IRKIQKVVNTYTPGKKIWLEGVVTTSAGGTNNLSDSYAAGFLWLNTLGMLANQGIDVVIR
HSFFDHGYNHLVDQNFNPLPDYWLSLLYKRLIGPKVLAVHVAGLQRKPRPGRVIRDKLRI
YAHCTNHHNHNYVRGSITLFIINLHRSRKKIKLAGTLRDKLVHQYLLQPYGQEGLKSKSV
QLNGQPLVMVDDGTLPELKPRPLRAGRTLVIPPVTMGFYVVKNVNALACRYR
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| Position | Chain | Variation | Link |
| complement(128) | - | g, a | dbSNP:78935940 |
| complement(346) | - | t, g | dbSNP:115042847 |
| complement(455) | - | g, a | dbSNP:11593055 |
| complement(1016) | - | t, c | dbSNP:17110744 |
| complement(1267) | - | g, a | dbSNP:111762231 |
| complement(1527) | - | t, g | dbSNP:78773769 |
| complement(1809) | - | t, a | dbSNP:10883100 |
| complement(1869) | - | g, a | dbSNP:10883099 |
| complement(1921) | - | t, g | dbSNP:35712968 |
| complement(2002) | - | t, g | dbSNP:60830323 |
| complement(2117) | - | g, a | dbSNP:112735875 |
| complement(2122) | - | t, a | dbSNP:114885354 |
| complement(2288) | - | t, g | dbSNP:17457493 |
| 2417 | + | a, g | dbSNP:1060445 |
| 2451 | + | c, t | dbSNP:3179357 |
| 2462 | + | c, g | dbSNP:1060446 |
| 2651 | + | a, g | dbSNP:1060447 |
| complement(2798) | - | t, c | dbSNP:116701075 |
| complement(2801) | - | g, a | dbSNP:10786427 |
| complement(2850) | - | t, c | dbSNP:17109911 |
| complement(2852) | - | g, a | dbSNP:114591152 |
| complement(2904..2905) | - | , a | dbSNP:34790086 |
| complement(2988) | - | g, c | dbSNP:10883098 |
| complement(3124) | - | c, a | dbSNP:4917836 |
| complement(3160) | - | t, c | dbSNP:11593448 |
| complement(3166) | - | g, a | dbSNP:12269710 |
| complement(3211) | - | t, c | dbSNP:4917835 |
| complement(3253) | - | g, a | dbSNP:11599904 |
| complement(3259) | - | g, c | dbSNP:75115624 |
| complement(3304) | - | g, a | dbSNP:4917834 |
| complement(3375) | - | t, c | dbSNP:4917833 |
| complement(3444) | - | g, c | dbSNP:4917832 |
| complement(3490) | - | g, a | dbSNP:58534010 |
| complement(3491) | - | t, c | dbSNP:4917831 |
| complement(3574) | - | c, a | dbSNP:75584607 |
| complement(3611) | - | g, a | dbSNP:4919228 |
| complement(3663) | - | g, a | dbSNP:59842719 |
| complement(3939) | - | t, c | dbSNP:74902668 |
| complement(3976) | - | t, c | dbSNP:10786426 |
| complement(4006) | - | g, a | dbSNP:74156611 |
| complement(4031) | - | g, a | dbSNP:117572970 |
| complement(4037) | - | t, c | dbSNP:12778249 |
| complement(4209) | - | t, a | dbSNP:78986047 |
| complement(4210) | - | t, a | dbSNP:75469488 |
| complement(4285) | - | g, c | dbSNP:4611143 |
| Gene Symbol | HPSE2 |
| Gene Synonym | FLJ11684; FLJ44022; HPA2; HPR2; MGC133234; UFS |
| Chromosome | 10 |
| Locus Map | 10q23-q24 |
| All Transcripts | NM_021828 , NM_001166244 , NM_001166245 , NM_001166246 |
| Title | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score . |
| Author | Rose,J.E., Behm,F.M., Drgon,T., Johnson,C. and Uhl,G.R. |
| Journal | Mol. Med. 16 (7-8), 247-253 (2010) |
| Title | Cytotoxic T lymphocyte epitopes from human heparanase can elicit a potent anti-tumor immune response in mice . |
| Author | Tang,X.D., Liang,G.P., Li,C., Wan,Y., Chen,T., Chen,L., Yu,S.T., Xiong,Z., Fang,D.C., Wang,G.Z. and Yang,S.M. |
| Journal | Cancer Immunol. Immunother. 59 (7), 1041-1047 (2010) |
| Title | Mutations in HPSE2 cause urofacial syndrome . |
| Author | Daly,S.B., Urquhart,J.E., Hilton,E., McKenzie,E.A., Kammerer,R.A., Lewis,M., Kerr,B., Stuart,H., Donnai,D., Long,D.A., Burgu,B., Aydogdu,O., Derbent,M., Garcia-Minaur,S., Reardon,W., Gener,B., Shalev,S., Smith,R., Woolf,A.S., Black,G.C. and Newman,W.G. |
| Journal | Am. J. Hum. Genet. 86 (6), 963-969 (2010) |
| 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., Fisher,R.B., Gu,W., Xiong,W.C., Mei,L., She,J.X. and Wang,C.Y. |
| Journal | Am. J. Hum. Genet. 86 (6), 957-962 (2010) |
| 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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