LOCUS       NM_003773               1882 bp    mRNA    linear   PRI 17-JAN-2025
DEFINITION  Homo sapiens hyaluronidase 2 (HYAL2), transcript variant 1, mRNA.
ACCESSION   NM_003773
VERSION     NM_003773.5
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 1882)
  AUTHORS   Fasham,J., Lin,S., Ghosh,P., Radio,F.C., Farrow,E.G., Thiffault,I.,
            Kussman,J., Zhou,D., Hemming,R., Zahka,K., Chioza,B.A.,
            Rawlins,L.E., Wenger,O.K., Gunning,A.C., Pizzi,S., Onesimo,R.,
            Zampino,G., Barker,E., Osawa,N., Rodriguez,M.C., Neuhann,T.M.,
            Zackai,E.H., Keena,B., Capasso,J., Levin,A.V., Bhoj,E., Li,D.,
            Hakonarson,H., Wentzensen,I.M., Jackson,A., Chandler,K.E.,
            Coban-Akdemir,Z.H., Posey,J.E., Banka,S., Lupski,J.R.,
            Sheppard,S.E., Tartaglia,M., Triggs-Raine,B., Crosby,A.H. and
            Baple,E.L.
  TITLE     Elucidating the clinical spectrum and molecular basis of HYAL2
            deficiency
  JOURNAL   Genet Med 24 (3), 631-644 (2022)
   PUBMED   34906488
  REMARK    GeneRIF: Elucidating the clinical spectrum and molecular basis of
            HYAL2 deficiency.
REFERENCE   2  (bases 1 to 1882)
  AUTHORS   Yin,Y., Li,H., Yang,C., Zhang,M., Huang,X., Li,M., Yang,R. and
            Zhang,Z.
  TITLE     [Detection of DNA methylation of HYAL2 gene for differentiating
            malignant from benign thyroid tumors]
  JOURNAL   Nan Fang Yi Ke Da Xue Xue Bao 42 (1), 123-129 (2022)
   PUBMED   35249879
  REMARK    GeneRIF: [Detection of DNA methylation of HYAL2 gene for
            differentiating malignant from benign thyroid tumors].
REFERENCE   3  (bases 1 to 1882)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   4  (bases 1 to 1882)
  AUTHORS   Miller,A.D., Vigdorovich,V., Strong,R.K., Fernandes,R.J. and
            Lerman,M.I.
  TITLE     Hyal2, where are you?
  JOURNAL   Osteoarthritis Cartilage 14 (12), 1315-1317 (2006)
   PUBMED   16990026
REFERENCE   5  (bases 1 to 1882)
  AUTHORS   Rai,S.K., Duh,F.M., Vigdorovich,V., Danilkovitch-Miagkova,A.,
            Lerman,M.I. and Miller,A.D.
  TITLE     Candidate tumor suppressor HYAL2 is a glycosylphosphatidylinositol
            (GPI)-anchored cell-surface receptor for jaagsiekte sheep
            retrovirus, the envelope protein of which mediates oncogenic
            transformation
  JOURNAL   Proc Natl Acad Sci U S A 98 (8), 4443-4448 (2001)
   PUBMED   11296287
REFERENCE   6  (bases 1 to 1882)
  AUTHORS   Fiszer-Szafarz,B., Litynska,A. and Zou,L.
  TITLE     Human hyaluronidases: electrophoretic multiple forms in somatic
            tissues and body fluids. Evidence for conserved hyaluronidase
            potential N-glycosylation sites in different mammalian species
  JOURNAL   J Biochem Biophys Methods 45 (2), 103-116 (2000)
   PUBMED   10989127
REFERENCE   7  (bases 1 to 1882)
  AUTHORS   Strobl,B., Wechselberger,C., Beier,D.R. and Lepperdinger,G.
  TITLE     Structural organization and chromosomal localization of Hyal2, a
            gene encoding a lysosomal hyaluronidase
  JOURNAL   Genomics 53 (2), 214-219 (1998)
   PUBMED   9790770
REFERENCE   8  (bases 1 to 1882)
  AUTHORS   Lepperdinger,G., Strobl,B. and Kreil,G.
  TITLE     HYAL2, a human gene expressed in many cells, encodes a lysosomal
            hyaluronidase with a novel type of specificity
  JOURNAL   J Biol Chem 273 (35), 22466-22470 (1998)
   PUBMED   9712871
REFERENCE   9  (bases 1 to 1882)
  AUTHORS   Sun,L., Feusi,E., Sibalic,A., Beck-Schimmer,B. and Wuthrich,R.P.
  TITLE     Expression profile of hyaluronidase mRNA transcripts in the kidney
            and in renal cells
  JOURNAL   Kidney Blood Press Res 21 (6), 413-418 (1998)
   PUBMED   9933825
  REMARK    GeneRIF: Similar in structure to hyaluronidases, which
            intracellularly degrade hyaluronan. The accumulation of hyaluronan
            (HA) in the renal cortex is a characteristic feature of
            inflammatory renal diseases and could participate in immune renal
            injury.
REFERENCE   10 (bases 1 to 1882)
  AUTHORS   Fasham,J., Wenger,O.K., Crosby,A.H. and Baple,E.L.
  TITLE     HYAL2 Deficiency
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   37733894
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC358776.1, U09577.1 and
            AK127945.1.
            
            On Nov 23, 2018 this sequence version replaced NM_003773.4.
            
            Summary: This gene encodes a weak acid-active hyaluronidase. The
            encoded protein is similar in structure to other more active
            hyaluronidases. Hyaluronidases degrade hyaluronan, one of the major
            glycosaminoglycans of the extracellular matrix. Hyaluronan and
            fragments of hyaluronan are thought to be involved in cell
            proliferation, migration and differentiation. Although it was
            previously thought to be a lysosomal hyaluronidase that is active
            at a pH below 4, the encoded protein is likely a GPI-anchored cell
            surface protein. This hyaluronidase serves as a receptor for the
            oncogenic virus Jaagsiekte sheep retrovirus. The gene is one of
            several related genes in a region of chromosome 3p21.3 associated
            with tumor suppression. This gene encodes two alternatively spliced
            transcript variants which differ only in the 5' UTR.[provided by
            RefSeq, Mar 2010].
            
            Transcript Variant: This variant (1) represents the shorter
            transcript. Both variants 1 and 2 encode the same protein.
            
            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 :: SRR3476690.404612.1,
                                           SRR3476690.428957.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2147920
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000357750.9/ ENSP00000350387.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-47                DC358776.1         162-208
            48-1881             U09577.1           15-1848
            1882-1882           AK127945.1         4036-4036
FEATURES             Location/Qualifiers
     source          1..1882
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     gene            1..1882
                     /gene="HYAL2"
                     /gene_synonym="LUCA2; MCCS"
                     /note="hyaluronidase 2"
                     /db_xref="GeneID:8692"
                     /db_xref="HGNC:HGNC:5321"
                     /db_xref="MIM:603551"
     exon            1..93
                     /gene="HYAL2"
                     /gene_synonym="LUCA2; MCCS"
                     /inference="alignment:Splign:2.1.0"
     exon            94..1060
                     /gene="HYAL2"
                     /gene_synonym="LUCA2; MCCS"
                     /inference="alignment:Splign:2.1.0"
     CDS             140..1561
                     /gene="HYAL2"
                     /gene_synonym="LUCA2; MCCS"
                     /EC_number="3.2.1.35"
                     /note="PH-20 homolog; lysosomal hyaluronidase; lung
                     carcinoma protein 2; PH20 homolog; hyal-2;
                     hyaluronoglucosaminidase 2"
                     /codon_start=1
                     /product="hyaluronidase-2 precursor"
                     /protein_id="NP_003764.3"
                     /db_xref="CCDS:CCDS2818.1"
                     /db_xref="GeneID:8692"
                     /db_xref="HGNC:HGNC:5321"
                     /db_xref="MIM:603551"
                     /translation="MRAGPGPTVTLALVLAVSWAMELKPTAPPIFTGRPFVVAWDVPT
                     QDCGPRLKVPLDLNAFDVQASPNEGFVNQNITIFYRDRLGLYPRFDSAGRSVHGGVPQ
                     NVSLWAHRKMLQKRVEHYIRTQESAGLAVIDWEDWRPVWVRNWQDKDVYRRLSRQLVA
                     SRHPDWPPDRIVKQAQYEFEFAAQQFMLETLRYVKAVRPRHLWGFYLFPDCYNHDYVQ
                     NWESYTGRCPDVEVARNDQLAWLWAESTALFPSVYLDETLASSRHGRNFVSFRVQEAL
                     RVARTHHANHALPVYVFTRPTYSRRLTGLSEMDLISTIGESAALGAAGVILWGDAGYT
                     TSTETCQYLKDYLTRLLVPYVVNVSWATQYCSRAQCHGHGRCVRRNPSASTFLHLSTN
                     SFRLVPGHAPGEPQLRPVGELSWADIDHLQTHFRCQCYLGWSGEQCQWDHRQAAGGAS
                     EAWAGSHLTSLLALAALAFTWTL"
     exon            1061..1150
                     /gene="HYAL2"
                     /gene_synonym="LUCA2; MCCS"
                     /inference="alignment:Splign:2.1.0"
     exon            1151..1882
                     /gene="HYAL2"
                     /gene_synonym="LUCA2; MCCS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1862..1867
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HYAL2"
                     /gene_synonym="LUCA2; MCCS"
                     /note="hexamer: ATTAAA"
     polyA_site      1882
                     /gene="HYAL2"
                     /gene_synonym="LUCA2; MCCS"
                     /note="major polyA site"
ORIGIN      
        1 gggcagcagc tggcgcaagt agcctagctg gagaggctca ccccaggaag gagggaggcc
       61 accgacctac tgggccgacg gactcccaca cagttcctga gctggtgcca ggcaggtgac
      121 acctcctgca gcccccagca tgcgggcagg cccaggcccc accgttacat tggccctggt
      181 gctggcggtg tcatgggcca tggagctcaa gcccacagca ccacccatct tcactggccg
      241 gccctttgtg gtagcgtggg acgtgcccac acaggactgt ggcccacgcc tcaaggtgcc
      301 actggacctg aatgcctttg atgtgcaggc ctcacctaat gagggttttg tgaaccagaa
      361 tattaccatc ttctaccgcg accgtctagg cctgtatcca cgcttcgatt ctgccggaag
      421 gtctgtgcat ggtggtgtgc cacagaatgt cagcctttgg gcacaccgga agatgctgca
      481 gaaacgtgtg gagcactaca ttcggacaca ggagtctgcg gggctggcgg tcatcgactg
      541 ggaggactgg cgacctgtgt gggtgcgcaa ctggcaggac aaagatgtgt atcgccggtt
      601 atcacgccag ctagtggcca gtcgtcaccc tgactggcct ccagaccgca tagtcaaaca
      661 ggcacaatat gagtttgagt tcgcagcaca gcagttcatg ctggagacac tgcgttatgt
      721 caaggcagtg cggccccggc acctctgggg cttctacctc tttcctgact gctacaatca
      781 tgattatgtg cagaactggg agagctacac aggccgctgc cctgatgttg aggtggcccg
      841 caatgaccag ctggcctggc tgtgggctga gagcacggcc ctcttcccgt ctgtctacct
      901 ggacgagaca cttgcttcct cccgccatgg ccgcaacttt gtgagcttcc gtgttcagga
      961 ggcccttcgt gtggctcgca cccaccatgc caaccatgca ctcccagtct acgtcttcac
     1021 acgacccacc tacagccgca ggctcacggg gcttagtgag atggacctca tctctaccat
     1081 tggcgagagt gcggccctgg gcgcagctgg tgtcatcctc tggggtgacg cggggtacac
     1141 cacaagcacg gagacctgcc agtacctcaa agattacctg acacggctgc tggtccccta
     1201 cgtggtcaat gtgtcctggg ccacccaata ttgcagccgg gcccagtgcc atggccatgg
     1261 gcgctgtgtg cgccgcaacc ccagtgccag taccttcctg catctcagca ccaacagttt
     1321 ccgcctagtg cctggccatg cacctggtga accccagctg cgacctgtgg gggagctcag
     1381 ttgggccgac attgaccacc tgcagacaca cttccgctgc cagtgctact tgggctggag
     1441 tggtgagcaa tgccagtggg accataggca ggcagctgga ggtgccagcg aggcctgggc
     1501 tgggtcccac ctcaccagtc tgctggctct ggcagccctg gcctttacct ggaccttgta
     1561 ggggtctcct gcctagctgc ctagcaagct ggcctctacc acaagggctc tcttaggcat
     1621 gtaggaccct gcagggggtg gacaaactgg agtctggagt gggcagagcc cccaggaagc
     1681 ccaggagggc atccatacca gctcgcaccc ccctgttcta agggggaggg gaagtccctg
     1741 ggaggcccct tctctccctg ccagagggga aggagggtac agctgggctg gggaggacct
     1801 gaccctactc ccttgcccta gatagtttat tattattatt attttggggt ctcttttgta
     1861 aattaaacat aaaacaattg ct
//
