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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

HYAL2 Gene

protein-coding   GIFtS: 65
GCID: GC03M050355

Hyaluronoglucosaminidase 2

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Hyaluronoglucosaminidase 21 2     hyal-22
LUCA22 3 5     hyaluronidase-22
Hyaluronidase 21 2     hyaluronoglucosaminidase-22
Lysosomal Hyaluronidase1 2     PH20 Homolog2
PH-20 Homolog1 2     Hyal-23
Lung Carcinoma Protein 22 3     Hyaluronoglucosaminidase-23
EC 3.2.1.353 8     LuCa-23

External Ids:    HGNC: 53211   Entrez Gene: 86922   Ensembl: ENSG000000680017   OMIM: 6035515   UniProtKB: Q128913   

Export aliases for HYAL2 gene to outside databases

Previous GC identifers: GC03P049626 GC03P049796 GC03M050209 GC03M050314 GC03M050330


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for HYAL2 Gene:
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)

GeneCards Summary for HYAL2 Gene: 
HYAL2 (hyaluronoglucosaminidase 2) is a protein-coding gene. Diseases associated with HYAL2 include mucopolysaccharidosis type ix, and cerebral artery occlusion, and among its related super-pathways are Metabolic pathways and Metabolism of carbohydrates. GO annotations related to this gene include hyaluronic acid binding and enzyme binding. An important paralog of this gene is SPAM1.

UniProtKB/Swiss-Prot: HYAL2_HUMAN, Q12891
Function: Hydrolyzes high molecular weight hyaluronic acid to produce an intermediate-sized product which is
further hydrolyzed by sperm hyaluronidase to give small oligosaccharides. Displays very low levels of activity.
Associates with and negatively regulates MST1R

Gene Wiki entry for HYAL2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NT_022517.18  NC_018914.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HYAL2 gene promoter:
         ATF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): HYAL2 promoter sequence
   Search SABiosciences Chromatin IP Primers for HYAL2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HYAL2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p21.3   Ensembl cytogenetic band:  3p21.31   HGNC cytogenetic band: 3p21.3

HYAL2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HYAL2 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M050355:  view genomic region     (about GC identifiers)

Start:
50,355,221 bp from pter      End:
50,360,337 bp from pter
Size:
5,117 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: HYAL2_HUMAN, Q12891 (See protein sequence)
Recommended Name: Hyaluronidase-2 precursor  
Size: 473 amino acids; 53860 Da
Subunit: Interacts with MST1R
Subcellular location: Cell membrane; Lipid-anchor, GPI-anchor
Caution: Was originally thought to be lysosomal
Sequence caution: Sequence=AAC28656.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: B3KRZ2 O15177 Q9BW29

Explore the universe of human proteins at neXtProt for HYAL2: NX_Q12891

Explore proteomics data for HYAL2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q12891

  • 4/9 DME Specific Peptides for HYAL2 (Q12891) (see all 9)
     QNITIFY  GHGRCVR  YLFPDCYN  RNFVSFRV 

    HYAL2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    HYAL2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_003764.3  NP_149348.2  

    ENSEMBL proteins: 
     ENSP00000401853   ENSP00000350387   ENSP00000378571   ENSP00000406657   ENSP00000399677  
     ENSP00000398714   ENSP00000409642   ENSP00000414656   ENSP00000405855  
    Reactome Protein details: Q12891
    Human Recombinant Protein Products for HYAL2: 
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    Cloud-Clone Corp. Proteins for HYAL2 

    Gene Ontology (GO): 5/17 cellular component terms (GO ID links to tree view) (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane ISS--
    GO:0005737cytoplasm IDA17170110
    GO:0005764lysosome IDA16600643
    GO:0005783endoplasmic reticulum NAS16191204
    GO:0005829cytosol IDA19366691

    HYAL2 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR013785 Aldolase_TIM
     IPR018155 Hyaluronidase
     IPR000742 EG-like_dom
     IPR017853 Glycoside_hydrolase_SF

    Graphical View of Domain Structure for InterPro Entry Q12891

    ProtoNet protein and cluster: Q12891

    2 Blocks protein domains:
    IPB001968 Glycosyl hydrolase family 56 signature
    IPB006210 Type I EGF


    UniProtKB/Swiss-Prot: HYAL2_HUMAN, Q12891
    Similarity: Belongs to the glycosyl hydrolase 56 family
    Similarity: Contains 1 EGF-like domain


    HYAL2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HYAL2_HUMAN, Q12891
    Function: Hydrolyzes high molecular weight hyaluronic acid to produce an intermediate-sized product which is
    further hydrolyzed by sperm hyaluronidase to give small oligosaccharides. Displays very low levels of activity.
    Associates with and negatively regulates MST1R
    Catalytic activity: Random hydrolysis of (1->4)-linkages between N-acetyl-beta-D-glucosamine and D-glucuronate
    residues in hyaluronate

         Genatlas biochemistry entry for HYAL2:
    hyaluroglucosaminidase 2,lysosomal,ubiquitously expressed,but not in adult brain,related to testicular
    SPAM1,involved in glycosaminoglycan catabolism

         Enzyme Number (IUBMB): EC 3.2.1.351 2

         Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001618virus receptor activity IDA11296287
    GO:0004415hyalurononglucosaminidase activity TAS--
    GO:0005515protein binding IPI12676986
    GO:0005540hyaluronic acid binding IDA12676986
    GO:0019899enzyme binding IPI19366691
         
    HYAL2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for HYAL2:
     Decreased Wnt reporter activit 

         10 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Hyal2):
     craniofacial  hematopoietic system  homeostasis/metabolism  immune system  liver/biliary system 
     mortality/aging  no phenotypic analysis  renal/urinary system  skeleton  vision/eye 

    HYAL2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Hyal2tm1.1Bfla for HYAL2

       inGenious Targeting Laboratory - Custom generated mouse model solutions for HYAL2 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HYAL2 
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    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for HYAL2 About                                                                                                See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    2MPS IIIC - Sanfilippo syndrome C
    MPS IIIC - Sanfilippo syndrome C0.48
    Mucopolysaccharidoses0.48
    MPS IV - Morquio syndrome A0.48
    MPS IIID - Sanfilippo syndrome D0.48
    MPS IV - Morquio syndrome B0.48
    MPS I - Hurler syndrome0.48
    MPS VI - Maroteaux-Lamy syndrome0.48
    MPS IX - Natowicz syndrome0.48
    3Hyaluronan uptake and degradation
    Hyaluronan uptake and degradation0.71
    Hyaluronan metabolism0.71
    4Disease
    Disease
    5Glycosaminoglycan degradation
    Glycosaminoglycan degradation

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    5/18        Reactome Pathways for HYAL2 (see all 18)
        Hyaluronan metabolism
    MPS VI - Maroteaux-Lamy syndrome
    Metabolism
    Disease
    MPS II - Hunter syndrome


    2         Kegg Pathways  (Kegg details for HYAL2):
        Glycosaminoglycan degradation
    Metabolic pathways


    HYAL2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for HYAL2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    5/9 Interacting proteins for HYAL2 (Q128913 ENSP000003503874) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MST1RQ049123, ENSP000002964744I2D: score=1 STRING: ENSP00000296474
    ERVW-1Q9UQF03, ENSP000004199454I2D: score=1 STRING: ENSP00000419945
    ARSBENSP000002649144STRING: ENSP00000264914
    CD44ENSP000002783854STRING: ENSP00000278385
    HMMRENSP000003774924STRING: ENSP00000377492
    About this table

    Gene Ontology (GO): 5/39 biological process terms (GO ID links to tree view) (see all 39):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000302response to reactive oxygen species IDA--
    GO:0001822kidney development ISS--
    GO:0002244hematopoietic progenitor cell differentiation IEA--
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006027glycosaminoglycan catabolic process IDA9712871

    HYAL2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    HYAL2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for HYAL2

    3 HMDB Compounds for HYAL2    About this table
    CompoundSynonyms CAS #PubMed Ids
    N-Acetylgalactosamine2-Acetamido-2-desoxy-b-D-talofuranose (see all 113)1811-31-0--
    N-Acetylgalactosamine 4-sulphateN-Acetyl-D-galactosamine 4-sulfate (see all 7)45233-43-0--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    4 Novoseek inferred chemical compound relationships for HYAL2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hyaluronic acid 49.2 5 1401082 (1), 17706761 (1)
    tyrosine 9.76 7 12676986 (1), 15363108 (1), 16909114 (1), 15613321 (1)
    phosphatidylinositol 7.59 1 15613321 (1)
    lipid 0 1 15090545 (1)

    Search CenterWatch for drugs/clinical trials and news about HYAL2

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for HYAL2 gene (2 alternative transcripts): 
    NM_003773.4  NM_033158.4  

    Unigene Cluster for HYAL2:

    Hyaluronoglucosaminidase 2
    Hs.76873  [show with all ESTs]
    Unigene Representative Sequence: AK127945
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000447092(uc003czx.3 uc003czw.3) ENST00000357750(uc003czv.3)
    ENST00000395139 ENST00000442581 ENST00000481597(uc010hlj.2) ENST00000458018
    ENST00000424190 ENST00000426286 ENST00000428028 ENST00000415028
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AF070608.1 AJ000099.1 AJ844619.2 AJ844620.2 AK092449.1 AK127945.1 AK225635.1 AK310963.1 
    BC000692.2 U09577.1 

    18 DOTS entries:

    DT.117573  DT.95147664  DT.101984672  DT.97809315  DT.99940691  DT.120897416  DT.95341003  DT.100026376 
    DT.454879  DT.100824163  DT.120897383  DT.101956342  DT.120897394  DT.120897418  DT.40116356  DT.100770554 
    DT.100825385  DT.95341008 

    24/305 AceView cDNA sequences (see all 305):

    CK819513 BI915662 U09577 CR606405 N75047 BG109899 BC000692 BM988389 
    AK092449 CR602763 CR609590 CR601925 CR597868 AI291334 BG769235 BX379085 
    BM931005 AK127945 BM684492 NM_033158 CD251442 BU628805 AW297840 BM845079 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for HYAL2 (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4a · 4b · 4c · 4d ^ 5 ^ 6
    SP1:                    -                 -     -     -                                       
    SP2:                    -     -     -     -     -     -                                       
    SP3:                    -           -     -     -     -                                       
    SP4:                                                                                          
    SP5:                                                  -                                       


    ECgene alternative splicing isoforms for HYAL2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    HYAL2 expression in normal human tissues (normalized intensities)      HYAL2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAGGACCCTG
    HYAL2 Expression
    About this image


    HYAL2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/6 selected tissues (see all 6) fully expand
     
     Cartilage (Muscoskeletal System)    fully expand to see all 3 entries
             Articular Cartilage Cells Zeugopod Articular Cartilage
     
     Endothelium (Cardiovascular System)    fully expand to see all 2 entries
             huvec   
     
     Umbilical Cord (Extraembryonic Tissues)
             huvec   
     
     Blood (Cardiovascular System)
             blood outgrowth endothelial cell   
     
     Lung (Respiratory System)

    See HYAL2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HYAL2

    SOURCE GeneReport for Unigene cluster: Hs.76873

    UniProtKB/Swiss-Prot: HYAL2_HUMAN, Q12891
    Tissue specificity: Widely expressed. No expression detected in adult brain

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for HYAL2 gene from 6/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hyal21 , 5 hyaluronoglucosaminidase 21, 5 83.37(n)1
    82.03(a)1
      9 (58.12 cM)5
    155871  NM_010489.21  NP_034619.21 
     1075691635 
    chicken
    (Gallus gallus)
    Aves HYAL21 hyaluronoglucosaminidase 2 65.37(n)
    58.68(a)
      415908  XM_414258.3  XP_414258.2 
    lizard
    (Anolis carolinensis)
    Reptilia HYAL26
    --
    Uncharacterized protein
    56(a)
    38(a)
    1 ↔ 1
    possible ortholog
    2(149919774-149928317)
    2(153489943-153522871)
    African clawed frog
    (Xenopus laevis)
    Amphibia hyal2-prov2 hyaluronidase 2 75.49(n)    BC047252.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5678691 hyaluronidase-2-like 57.27(n)
    50.24(a)
      567869  XM_691176.3  XP_696268.3 
    worm
    (Caenorhabditis elegans)
    Secernentea T22C8.23 hyaluronidase 31(a)   II(8614552-8617147)   --


    ENSEMBL Gene Tree for HYAL2 (if available)
    TreeFam Gene Tree for HYAL2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HYAL2 gene
    SPAM12  HYAL32  HYAL12  HYAL42  
    4 SIMAP similar genes for HYAL2 using alignment to 8 protein entries:     HYAL2_HUMAN (see all proteins):
    HYAL1    HYAL4    SPAM1    HYAL3

    HYAL2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/174 SNPs in HYAL2 are shown (see all 174)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1401855071,2
    --50354759(+) GATCCA/GAGGGA 2 -- ds50010--------
    rs10501691,2
    A,H--50355403(-) CTGTTC/TTAAGG 2 -- ut31 ese34Minor allele frequency- T:0.00MN NS NA 404
    rs143521,2
    C,F--50355500(-) GGCATA/G/TTAGGA 4 -- ut31 ese31MN 184
    rs2009250681,2
    C--50355511(+) TAAGAG/AAGCCC 2 -- ut311Minor allele frequency- A:0.00EU 573
    rs800318011,2
    C--50355548(+) AGCTAA/GGCAGG 2 -- ut310--------
    rs1425514721,2
    F--50355581(+) AAGGCC/TAGGGC 4 L syn11Minor allele frequency- T:0.00NA 4472
    rs758015191,2
    C--50355604(+) CAGACC/TGGTGA 4 S G mis10--------
    rs354555891,2,4
    C,F,H--50355730(+) GTCAAT/GGTCGG 4 /I /L mis120Minor allele frequency- G:0.11NS EA NA WA CSA EU 7865
    rs1392737211,2
    C,F--50355752(+) TCCCCC/TACAGG 4 V syn11Minor allele frequency- T:0.00NA 4542
    rs1500047511,2
    C,F--50355818(+) CTGAGA/GTGCAG 4 H syn11Minor allele frequency- G:0.00NA 4550

    HapMap Linkage Disequilibrium report for HYAL2 (50355221 - 50360337 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/12 variations for HYAL2 (see all 12):    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv5132n71CNV Loss21882294
    nsv523662CNV Loss19592680
    dgv5133n71CNV Loss21882294
    nsv876770CNV Loss21882294
    nsv3813CNV Loss18451855
    dgv5131n71CNV Loss21882294
    nsv876769CNV Loss21882294
    nsv834692CNV Loss17160897
    nsv470561CNV Loss18288195
    nsv834693CNV Loss17160897

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 603551    OMIM disorders: --

    20/25 diseases for HYAL2 (see all 25):    About MalaCards
    mucopolysaccharidosis type ix    cerebral artery occlusion    noma    mucopolysaccharidosis
    morquio syndrome b    non-hodgkin lymphoma    hodgkin's lymphoma    peritonitis
    endometrial carcinoma    osteoarthritis    periodontitis    cerebritis
    osteosarcoma    lung cancer    gastric cancer    hypertension
    rheumatoid arthritis    arthritis    adenocarcinoma    colorectal cancer


    HYAL2 for disorders           About GeneDecksing

    9 Novoseek inferred disease relationships for HYAL2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    jaagsiekte 95.5 17 12676986 (3), 16191204 (2), 17229709 (2), 15596803 (2) (see all 8)
    carcinoma bronchioloalveolar 49.5 2 11296287 (1), 12676986 (1)
    tumors 31.8 25 12584308 (3), 11802201 (3), 15090545 (3), 15386412 (2) (see all 11)
    cancer lung 30.7 3 12596899 (1), 12676986 (1), 11980673 (1)
    breast cancer 11.4 4 12584308 (1), 11980673 (1), 15090545 (1), 16125700 (1)
    cancer 5.9 3 12584308 (1), 15936804 (1), 18725949 (1)
    inflammation 5.04 1 11731268 (1)
    glioma 4.68 1 12684632 (1)
    adenocarcinoma 2.24 1 12596899 (1)

    Human Genome Epidemiology (HuGE) Navigator: HYAL2 (1 document)

    Export disorders for HYAL2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for HYAL2 gene, integrated from 9 sources (see all 85):
    (articles sorted by number of sources associating them with HYAL2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. HYAL2, a human gene expressed in many cells, encodes a lysosomal hyaluronidase with a novel type of specificity. (PubMed id 9712871)1, 2, 3, 9 Lepperdinger G.... Kreil G. (1998)
    2. Candidate tumor suppressor HYAL2 is a glycosylphosphatidylinositol (GPI)-anchored cell-surface receptor for jaagsiekte sheep retrovirus, the envelope protein of which mediates oncogenic transformation. (PubMed id 11296287)1, 2, 9 Rai S.K.... Miller A.D. (2001)
    3. Hyal2 -- less active, but more versatile? (PubMed id 11731268)1, 2, 9 Lepperdinger G.... Kreil G. (2001)
    4. Hyaluronidase 2 negatively regulates RON receptor tyrosine kinase and mediates transformation of epithelial cells by jaagsiekte sheep retrovirus. (PubMed id 12676986)1, 2, 9 Danilkovitch-Miagkova A.... Lerman M.I. (2003)
    5. Structural organization and chromosomal localization of Hyal2, a gene encoding a lysosomal hyaluronidase. (PubMed id 9790770)1, 3, 9 Strobl B....Lepperdinger G. (1998)
    6. The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997)1, 2 Muzny D.M....Gibbs R.A. (2006)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    9. Amino acid residues that are important for Hyal2 function as a receptor for jaagsiekte sheep retrovirus. (PubMed id 16191204)1, 9 Duh F.M....Miller A.D. (2005)
    10. Ability of hyaluronidase 2 to degrade extracellular hyaluronan is not required for its function as a receptor for jaagsiekte sheep retrovirus. (PubMed id 17229709)1, 9 Vigdorovich V....Strong R.K. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 8692 HGNC: 5321 AceView: HYAL2 Ensembl:ENSG00000068001 euGenes: HUgn8692
    ECgene: HYAL2 Kegg: 8692 H-InvDB: HYAL2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for HYAL2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for HYAL2 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for HYAL2 gene:
    Search GeneIP for patents involving HYAL2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

     
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