LOCUS       NM_021828               4326 bp    mRNA    linear   PRI 05-OCT-2024
DEFINITION  Homo sapiens heparanase 2 (inactive) (HPSE2), transcript variant 1,
            mRNA.
ACCESSION   NM_021828
VERSION     NM_021828.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4326)
  AUTHORS   Lopes,F.M., Grenier,C., Jarvis,B.W., Al Mahdy,S., Lene-McKay,A.,
            Gurney,A.M., Newman,W.G., Waddington,S.N., Woolf,A.S. and
            Roberts,N.A.
  TITLE     Human HPSE2 gene transfer ameliorates bladder pathophysiology in a
            mutant mouse model of urofacial syndrome
  JOURNAL   Elife 13, 91828 (2024)
   PUBMED   38990208
  REMARK    GeneRIF: Human HPSE2 gene transfer ameliorates bladder
            pathophysiology in a mutant mouse model of urofacial syndrome.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4326)
  AUTHORS   Hilwi,M., Shulman,K., Naroditsky,I., Feld,S., Gross-Cohen,M.,
            Boyango,I., Soboh,S., Vornicova,O., Farhoud,M., Singh,P.,
            Bar-Sela,G., Goldberg,H., Gotte,M., Sharrocks,A.D., Li,Y.,
            Sanderson,R.D., Ilan,N. and Vlodavsky,I.
  TITLE     Nuclear localization of heparanase 2 (Hpa2) attenuates breast
            carcinoma growth and metastasis
  JOURNAL   Cell Death Dis 15 (3), 232 (2024)
   PUBMED   38519456
  REMARK    GeneRIF: Nuclear localization of heparanase 2 (Hpa2) attenuates
            breast carcinoma growth and metastasis.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4326)
  AUTHORS   Ostrovsky,O., Beider,K., Magen,H., Leiba,M., Sanderson,R.D.,
            Vlodavsky,I. and Nagler,A.
  TITLE     Effect of HPSE and HPSE2 SNPs on the Risk of Developing Primary
            Paraskeletal Multiple Myeloma
  JOURNAL   Cells 12 (6), 913 (2023)
   PUBMED   36980254
  REMARK    GeneRIF: Effect of HPSE and HPSE2 SNPs on the Risk of Developing
            Primary Paraskeletal Multiple Myeloma.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4326)
  AUTHORS   Knani,I., Yanku,Y., Gross-Cohen,M., Ilan,N. and Vlodavsky,I.
  TITLE     Heparanase 2 (Hpa2) attenuates the growth of human sarcoma
  JOURNAL   Matrix Biol 113, 22-38 (2022)
   PUBMED   36122821
  REMARK    GeneRIF: Heparanase 2 (Hpa2) attenuates the growth of human
            sarcoma.
REFERENCE   5  (bases 1 to 4326)
  AUTHORS   Thibord,F., Chan,M.V., Chen,M.H. and Johnson,A.D.
  TITLE     A year of COVID-19 GWAS results from the GRASP portal reveals
            potential genetic risk factors
  JOURNAL   HGG Adv 3 (2), 100095 (2022)
   PUBMED   35224516
REFERENCE   6  (bases 1 to 4326)
  AUTHORS   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.
  TITLE     Cloning and expression profiling of Hpa2, a novel mammalian
            heparanase family member
  JOURNAL   Biochem Biophys Res Commun 276 (3), 1170-1177 (2000)
   PUBMED   11027606
REFERENCE   7  (bases 1 to 4326)
  AUTHORS   Wang,C.Y., Shi,J.D., Huang,Y.Q., Cruz,P.E., Ochoa,B.,
            Hawkins-Lee,B., Davoodi-Semiromi,A. and She,J.X.
  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)
  JOURNAL   Genomics 60 (1), 12-19 (1999)
   PUBMED   10458906
REFERENCE   8  (bases 1 to 4326)
  AUTHORS   Wang,C.Y., Huang,Y.Q., Shi,J.D., Marron,M.P., Ruan,Q.G.,
            Hawkins-Lee,B., Ochoa,B. and She,J.X.
  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
  JOURNAL   Am J Med Genet 84 (5), 454-459 (1999)
   PUBMED   10360399
REFERENCE   9  (bases 1 to 4326)
  AUTHORS   Wang,C.Y., Hawkins-Lee,B., Ochoa,B., Walker,R.D. and She,J.X.
  TITLE     Homozygosity and linkage-disequilibrium mapping of the urofacial
            (Ochoa) syndrome gene to a 1-cM interval on chromosome 10q23-q24
  JOURNAL   Am J Hum Genet 60 (6), 1461-1467 (1997)
   PUBMED   9199567
REFERENCE   10 (bases 1 to 4326)
  AUTHORS   Newman,W.G., Woolf,A.S., Beaman,G.M. and Roberts,N.A.
  TITLE     Urofacial Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   23967498
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF282887.1, AJ299719.1 and
            AL139243.11.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Oct 7, 2019 this sequence version replaced NM_021828.4.
            
            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.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.19287.1, AJ299719.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1966682,
                                           SAMEA1968189 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            coronavirus related    :: locus in the vicinity of
                                      disease-associated variant(s)
            MANE Ensembl match     :: ENST00000370552.8/ ENSP00000359583.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-614               AF282887.1         11-624
            615-660             AJ299719.1         625-670
            661-1785            AF282887.1         671-1795
            1786-4326           AL139243.11        101864-104404       c
FEATURES             Location/Qualifiers
     source          1..4326
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.2"
     gene            1..4326
                     /gene="HPSE2"
                     /gene_synonym="HPA2; HPR2; UFS; UFS1"
                     /note="heparanase 2 (inactive)"
                     /db_xref="GeneID:60495"
                     /db_xref="HGNC:HGNC:18374"
                     /db_xref="MIM:613469"
     exon            1..340
                     /gene="HPSE2"
                     /gene_synonym="HPA2; HPR2; UFS; UFS1"
                     /inference="alignment:Splign:2.1.0"
     CDS             51..1829
                     /gene="HPSE2"
                     /gene_synonym="HPA2; HPR2; UFS; UFS1"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; heparanase-like protein; heparanase 3; inactive
                     heparanase-2"
                     /codon_start=1
                     /product="inactive heparanase-2 isoform 1 precursor"
                     /protein_id="NP_068600.4"
                     /db_xref="CCDS:CCDS7477.1"
                     /db_xref="GeneID:60495"
                     /db_xref="HGNC:HGNC:18374"
                     /db_xref="MIM:613469"
                     /translation="MRVLCAFPEAMPSSNSRPPACLAPGALYLALLLHLSLSSQAGDR
                     RPLPVDRAAGLKEKTLILLDVSTKNPVRTVNENFLSLQLDPSIIHDGWLDFLSSKRLV
                     TLARGLSPAFLRFGGKRTDFLQFQNLRNPAKSRGGPGPDYYLKNYEDDIVRSDVALDK
                     QKGCKIAQHPDVMLELQREKAAQMHLVLLKEQFSNTYSNLILTARSLDKLYNFADCSG
                     LHLIFALNALRRNPNNSWNSSSALSLLKYSASKKYNISWELGNEPNNYRTMHGRAVNG
                     SQLGKDYIQLKSLLQPIRIYSRASLYGPNIGRPRKNVIALLDGFMKVAGSTVDAVTWQ
                     HCYIDGRVVKVMDFLKTRLLDTLSDQIRKIQKVVNTYTPGKKIWLEGVVTTSAGGTNN
                     LSDSYAAGFLWLNTLGMLANQGIDVVIRHSFFDHGYNHLVDQNFNPLPDYWLSLLYKR
                     LIGPKVLAVHVAGLQRKPRPGRVIRDKLRIYAHCTNHHNHNYVRGSITLFIINLHRSR
                     KKIKLAGTLRDKLVHQYLLQPYGQEGLKSKSVQLNGQPLVMVDDGTLPELKPRPLRAG
                     RTLVIPPVTMGFYVVKNVNALACRYR"
     exon            341..498
                     /gene="HPSE2"
                     /gene_synonym="HPA2; HPR2; UFS; UFS1"
                     /inference="alignment:Splign:2.1.0"
     exon            499..660
                     /gene="HPSE2"
                     /gene_synonym="HPA2; HPR2; UFS; UFS1"
                     /inference="alignment:Splign:2.1.0"
     exon            661..834
                     /gene="HPSE2"
                     /gene_synonym="HPA2; HPR2; UFS; UFS1"
                     /inference="alignment:Splign:2.1.0"
     exon            835..1006
                     /gene="HPSE2"
                     /gene_synonym="HPA2; HPR2; UFS; UFS1"
                     /inference="alignment:Splign:2.1.0"
     exon            1007..1054
                     /gene="HPSE2"
                     /gene_synonym="HPA2; HPR2; UFS; UFS1"
                     /inference="alignment:Splign:2.1.0"
     exon            1055..1148
                     /gene="HPSE2"
                     /gene_synonym="HPA2; HPR2; UFS; UFS1"
                     /inference="alignment:Splign:2.1.0"
     exon            1149..1255
                     /gene="HPSE2"
                     /gene_synonym="HPA2; HPR2; UFS; UFS1"
                     /inference="alignment:Splign:2.1.0"
     exon            1256..1370
                     /gene="HPSE2"
                     /gene_synonym="HPA2; HPR2; UFS; UFS1"
                     /inference="alignment:Splign:2.1.0"
     exon            1371..1516
                     /gene="HPSE2"
                     /gene_synonym="HPA2; HPR2; UFS; UFS1"
                     /inference="alignment:Splign:2.1.0"
     exon            1517..1663
                     /gene="HPSE2"
                     /gene_synonym="HPA2; HPR2; UFS; UFS1"
                     /inference="alignment:Splign:2.1.0"
     exon            1664..4326
                     /gene="HPSE2"
                     /gene_synonym="HPA2; HPR2; UFS; UFS1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2489..2494
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HPSE2"
                     /gene_synonym="HPA2; HPR2; UFS; UFS1"
                     /note="hexamer: AGTAAA"
     polyA_site      2511
                     /gene="HPSE2"
                     /gene_synonym="HPA2; HPR2; UFS; UFS1"
                     /note="major polyA site"
     regulatory      3722..3727
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HPSE2"
                     /gene_synonym="HPA2; HPR2; UFS; UFS1"
                     /note="hexamer: AAGAAA"
     polyA_site      3764
                     /gene="HPSE2"
                     /gene_synonym="HPA2; HPR2; UFS; UFS1"
     regulatory      4249..4254
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HPSE2"
                     /gene_synonym="HPA2; HPR2; UFS; UFS1"
                     /note="hexamer: ATTAAA"
     polyA_site      4270
                     /gene="HPSE2"
                     /gene_synonym="HPA2; HPR2; UFS; UFS1"
                     /note="major polyA site"
     regulatory      4296..4301
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HPSE2"
                     /gene_synonym="HPA2; HPR2; UFS; UFS1"
                     /note="hexamer: AATAAA"
     polyA_site      4326
                     /gene="HPSE2"
                     /gene_synonym="HPA2; HPR2; UFS; UFS1"
                     /note="major polyA site"
ORIGIN      
        1 agtcactagc gagacccagt aggaagagag gtttaaatca gagggattga atgagggtgc
       61 tttgtgcctt ccctgaagcc atgccctcca gcaactcccg cccccccgcg tgcctagccc
      121 cgggggctct ctacttggct ctgttgctcc atctctccct ttcctcccag gctggagaca
      181 ggagaccctt gcctgtagac agagctgcag gtttgaagga aaagaccctg attctacttg
      241 atgtgagcac caagaaccca gtcaggacag tcaatgagaa cttcctctct ctgcagctgg
      301 atccgtccat cattcatgat ggctggctcg atttcctaag ctccaagcgc ttggtgaccc
      361 tggcccgggg actttcgccc gcctttctgc gcttcggggg caaaaggacc gacttcctgc
      421 agttccagaa cctgaggaac ccggcgaaaa gccgcggggg cccgggcccg gattactatc
      481 tcaaaaacta tgaggatgac attgttcgaa gtgatgttgc cttagataaa cagaaaggct
      541 gcaagattgc ccagcaccct gatgttatgc tggagctcca aagggagaag gcagctcaga
      601 tgcatctggt tcttctaaag gagcaattct ccaatactta cagtaatctc atattaacag
      661 ccaggtctct agacaaactt tataactttg ctgattgctc tggactccac ctgatatttg
      721 ctctaaatgc actgcgtcgt aatcccaata actcctggaa cagttctagt gccctgagtc
      781 tgttgaagta cagcgccagc aaaaagtaca acatttcttg ggaactgggt aatgagccaa
      841 ataactatcg gaccatgcat ggccgggcag taaatggcag ccagttggga aaggattaca
      901 tccagctgaa gagcctgttg cagcccatcc ggatttattc cagagccagc ttatatggcc
      961 ctaatattgg gcggccgagg aagaatgtca tcgccctcct agatggattc atgaaggtgg
     1021 caggaagtac agtagatgca gttacctggc aacattgcta cattgatggc cgggtggtca
     1081 aggtgatgga cttcctgaaa actcgcctgt tagacacact ctctgaccag attaggaaaa
     1141 ttcagaaagt ggttaataca tacactccag gaaagaagat ttggcttgaa ggtgtggtga
     1201 ccacctcagc tggaggcaca aacaatctat ccgattccta tgctgcagga ttcttatggt
     1261 tgaacacttt aggaatgctg gccaatcagg gcattgatgt cgtgatacgg cactcatttt
     1321 ttgaccatgg atacaatcac ctcgtggacc agaattttaa cccattacca gactactggc
     1381 tctctctcct ctacaagcgc ctgatcggcc ccaaagtctt ggctgtgcat gtggctgggc
     1441 tccagcggaa gccacggcct ggccgagtga tccgggacaa actaaggatt tatgctcact
     1501 gcacaaacca ccacaaccac aactacgttc gtgggtccat tacacttttt atcatcaact
     1561 tgcatcgatc aagaaagaaa atcaagctgg ctgggactct cagagacaag ctggttcacc
     1621 agtacctgct gcagccctat gggcaggagg gcctaaagtc caagtcagtg caactgaatg
     1681 gccagccctt agtgatggtg gacgacggga ccctcccaga attgaagccc cgcccccttc
     1741 gggccggccg gacattggtc atccctccag tcaccatggg cttttatgtg gtcaagaatg
     1801 tcaatgcttt ggcctgccgc taccgataag ctatcctcac actcacggct accagtgggc
     1861 ctgctgggct gcttccactc ctccactcca gtagtatcct ctgttttcag acatcctagc
     1921 aaccagcccc tgctgcccca tcctgctgga atcaacacag acttgctctc caaagagact
     1981 aaatgtcata gcgtgatctt agcctaggta ggccacatcc atcccaaagg aaaatgtaga
     2041 catcacctgt acctatataa ggataaaggc atgtgtatag agcagaatgt ttcccttcat
     2101 gtgcactatg aaaacgagct gacagcacac tcccaggaga aatgtttcca gacaactccc
     2161 catgatcctg tcacacagca ttataaccac aaatccaaac cttagcctgc tgctgctgct
     2221 gccctcagag gaagatgagg aaggaaaaaa actgggtgga cctacaaaaa cccatcctct
     2281 cccaactcct tcttctctgc ctctttcttg ctgctgccct gagttttttg acacatctct
     2341 ttccataggg gagtaatggg tgtgtcagcc ctggcctgct gggagagctg tttgtatgat
     2401 ttcccggctg atgtatgagc gtgcgcatct gggttcctga cagtggcatc catcactggc
     2461 agttcttctg ggaagcgggt gcttcaaaag taaaattaca atcacactcc agatttggta
     2521 agaaggttct attcctctgt gaatccagat tcccccagag ttgtaatggg agtcaagtaa
     2581 caatattcat tgagtggaga gcagtttatt aggcacaaca aaaagtagtc atcattcttc
     2641 atgttgctat gagggagagt ttgagtacaa agagaaagca tactgaaaca tcaggtacac
     2701 acacacaccc caactggaca aagcaaatta gacctctcca aaattaagag aatattaggg
     2761 gctctatagg gtaagccctt aattgtttgg ttaactcaaa tcattatttt taaaaaagaa
     2821 gaaaaaagtg tgaatcaagg tcatcactgg aagacacaac tgaatctaac ctttttgcct
     2881 cttcccaagt agcctatttg agctagaaca aaactttgtt agccattttg ggagagaata
     2941 gggaatctag agaatgaaga tctggccaaa actatggaat ggtaggtagg aagcttctga
     3001 gttgggcagg tgtgaagtgg gggatgagga cgttctatat gattcaaggg gcatgagggt
     3061 ctttgccaat gagctacagc tgaaatgact ttcttttctg tggatgtgat tttctttctc
     3121 aggataaatg acaggaatga tgcttttgtt agaaggagga gagatttgac actgttccaa
     3181 gtgagacggt gatacaattt ctgctgtttg tgaaaggaca ggaatggggc gggggcaagg
     3241 cagggttgcc tagggcagag actagggagg ctgcctaaga cgcacacgga gttaaggatt
     3301 tgggccaagt ctgcaaagtg agagatggaa gggagattag accaaagagg agggagagaa
     3361 ttctgagctt ggagaacggt ggatttggga gagggaagct gactacctaa ttccaggaag
     3421 cgaggggacc gggttttgac atgcttatca ttaagcacag gaggaacagc atacagcaga
     3481 tgtactacag cgagcaagaa agggagagcc cgaggaccag gctgcaccag gtcagtggct
     3541 gtgctcagca tggaagcaac tggagagaga ggggcagacc ctgagaccgc cctgcaaggc
     3601 tgcccagaag ggacccgttt ctctgggacc aggcacctcc cactgaggct tcagctctga
     3661 gagggcagga aagtgaagta ccaagatggg ggcggggcgg ggggtaggaa ataagagaaa
     3721 gaagaaacag attgacaggc caaagtgagg aaaagagagg aaaagagaaa tgagactaaa
     3781 aggtcgttcc cccaactgtt aaaaatgtgt gcagatatca acgtctcttc tacatactgg
     3841 tacaggtgcg actgcagggc cccctgatat aacaagagta accaaaggtc cctaagagcc
     3901 tggccctggg gacctatggt ttgctttgcg tccttagtaa ccccatgata aaggggtact
     3961 actgttatcc ccatttttcc tacgaggcat ggagaggatc catggctcgc ccaggggcac
     4021 ccggggaaat gggttgccga gcgcgaaata atccagagcc tgcccactca gccacaaggc
     4081 tcagcggctc cacaggtcca gacacctcct tcacatcttt gtaggttctg ctcattcaga
     4141 acagccagaa ctccactcaa acacactttc tgtaaataag tgttgatttt tttttactaa
     4201 accttgcaga atatgggtaa ttcctgcttc ttttatcttt ctctgtgtat taaatgctgc
     4261 tctcacgaga tttaagtttt gtttattttt tagttaataa aaggaagagg gaattactga
     4321 aattta
//
