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NEU4 Gene

protein-coding   GIFtS: 53
GCID: GC02P242749

Sialidase 4

  See NEU4-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Sialidase 41 2
N-Acetyl-Alpha-Neuraminidase 42 3
EC 3.2.1.183 8
Neuraminidase 42
sialidase-42

External Ids:    HGNC: 213281   Entrez Gene: 1298072   Ensembl: ENSG000002040997   OMIM: 6085275   UniProtKB: Q8WWR83   

Export aliases for NEU4 gene to outside databases

Previous GC identifers: GC02M238777 GC02M239447 GC02P242770 GC02P243037 GC02P243072 GC02P242472 GC02P242437 GC02P242400 GC02P234501


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for NEU4 Gene:
The protein encoded by this gene belongs to a family of glycohydrolytic enzymes, which remove terminal sialic acid
residues from various sialo derivatives, such as glycoproteins, glycolipids, oligosaccharides, and gangliosides.
Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. (provided by
RefSeq, Nov 2009)

GeneCards Summary for NEU4 Gene:
NEU4 (sialidase 4) is a protein-coding gene. Diseases associated with NEU4 include galactosialidosis. GO annotations related to this gene include exo-alpha-(2->3)-sialidase activity and exo-alpha-(2->8)-sialidase activity. An important paralog of this gene is NEU2.

UniProtKB/Swiss-Prot: NEUR4_HUMAN, Q8WWR8
Function: May function in lysosomal catabolism of sialylated glycoconjugates. Has sialidase activity towards
synthetic substrates, such as 2'-(4-methylumbelliferyl)-alpha-D-N-acetylneuraminic acid (4-MU-NANA or 4MU-NeuAc).
Has a broad substrate specificity being active on glycoproteins, oligosaccharides and sialylated glycolipids

Gene Wiki entry for NEU4 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NC_018913.2  NT_005403.18  NT_187527.1  
Regulatory elements:
   Regulatory transcription factor binding sites in the NEU4 gene promoter:
         RFX1   RP58   AML1a   Olf-1   AP-4   LCR-F1   E47   HEN1   CREB   deltaCREB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNEU4 promoter sequence
   Search Chromatin IP Primers for NEU4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NEU4


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

Entrez Gene cytogenetic band: 2q37.3   Ensembl cytogenetic band:  2q37.3   HGNC cytogenetic band: 2q37.3

NEU4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NEU4 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P242749:  view genomic region     (about GC identifiers)

Start:
242,749,920 bp from pter      End:
242,758,739 bp from pter
Size:
8,820 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: NEUR4_HUMAN, Q8WWR8 (See protein sequence)
Recommended Name: Sialidase-4  
Size: 484 amino acids; 51572 Da
Sequence caution: Sequence=AAP34475.1; Type=Frameshift; Positions=291;
Secondary accessions: A8K056 J3KNJ5 Q96D64
Alternative splicing: 3 isoforms:  Q8WWR8-1   Q8WWR8-2   Q8WWR8-3   (Gene prediction based on EST data)

Explore the universe of human proteins at neXtProt for NEU4: NX_Q8WWR8

Explore proteomics data for NEU4 at MOPED

Post-translational modifications: 

  • According to PubMed:15213228, phosphorylation of mannose residues may ensure efficient transport of isoform 2 to
    the lysosomes via the mannose 6-phosphate receptor1
  • Isoform 2 is glycosylated (PubMed:15213228)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for NEU4 (Q8WWR8)
     HRSMNPCP  TFAVGPGH 


    See NEU4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001161071.1  NP_001161072.1  NP_001161073.1  NP_001161074.1  NP_542779.2  

    ENSEMBL proteins: 
     ENSP00000385402   ENSP00000397167   ENSP00000384804   ENSP00000394769   ENSP00000397860  
     ENSP00000385149   ENSP00000375830   ENSP00000320318   ENSP00000412688   ENSP00000398571  
     ENSP00000406678   ENSP00000388707   ENSP00000396197  
    Reactome Protein details: Q8WWR8

    NEU4 Human Recombinant Protein Products:

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    Novus Biologicals NEU4 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for NEU4 

     
    antibodies-online proteins for NEU4 (2 products) 

     
    antibodies-online peptides for NEU4

    NEU4 Antibody Products:

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    antibodies-online antibodies for NEU4 (28 products) 

    NEU4 Assay Products:

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    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for NEU4 
    antibodies-online kits for NEU4 (4 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR026946 Sialidase-4
     IPR011040 Sialidases
     IPR026856 Sialidase_fam

    Graphical View of Domain Structure for InterPro Entry Q8WWR8

    ProtoNet protein and cluster: Q8WWR8

    UniProtKB/Swiss-Prot: NEUR4_HUMAN, Q8WWR8
    Similarity: Belongs to the glycosyl hydrolase 33 family
    Similarity: Contains 3 BNR repeats


    Find genes that share domains with NEU4           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NEUR4_HUMAN, Q8WWR8
    Function: May function in lysosomal catabolism of sialylated glycoconjugates. Has sialidase activity towards
    synthetic substrates, such as 2'-(4-methylumbelliferyl)-alpha-D-N-acetylneuraminic acid (4-MU-NANA or 4MU-NeuAc).
    Has a broad substrate specificity being active on glycoproteins, oligosaccharides and sialylated glycolipids
    Catalytic activity: Hydrolysis of alpha-(2->3)-, alpha-(2->6)-, alpha-(2->8)- glycosidic linkages of terminal
    sialic acid residues in oligosaccharides, glycoproteins, glycolipids, colominic acid and synthetic substrates
    Biophysicochemical properties: pH dependence: Optimum pH is 3.2;
    Induction: Down-regulated during monocyte to macrophage differentiation

         Enzyme Number (IUBMB): EC 3.2.1.181 2

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004308exo-alpha-sialidase activity IDA14962670
    GO:0005515protein binding IPI16189514
    GO:0052794exo-alpha-(2->3)-sialidase activity IEA--
    GO:0052795exo-alpha-(2->6)-sialidase activity IEA--
    GO:0052796exo-alpha-(2->8)-sialidase activity IEA--
         
    Find genes that share ontologies with NEU4           About GenesLikeMe


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 1 allele(MGI details for Neu4):
     behavior/neurological  cellular  growth/size/body  homeostasis/metabolism  mortality/aging 
     reproductive system 

    Find genes that share phenotypes with NEU4           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Neu4tm1Avps for NEU4

       genOway: Develop your customized and physiologically relevant rodent model for NEU4

    miRNA
    Products:
        
    miRTarBase miRNAs that target NEU4:
    hsa-mir-124-3p (MIRT022484)

    Block miRNA regulation of human, mouse, rat NEU4 using miScript Target Protectors
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    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat NEU4

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 5): NEU4 (NM_080741)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NEU4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NEU4

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    Browse ESI BIO Cell Lines and PureStem Progenitors for NEU4 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NEU4


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NEUR4_HUMAN, Q8WWR8: Isoform 1: Membrane; Peripheral membrane protein
    NEUR4_HUMAN, Q8WWR8: Isoform 2: Lysosome lumen. Note=According to PubMed:15213228, isoform 2 is soluble,
    N-glycosylated and found in the lumen of lysosomes. However, no signal sequence nor N-glycosylation site is
    predicted from the sequence
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    lysosome5
    vacuole5
    mitochondrion2
    nucleus2
    cytosol1
    plasma membrane1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--
    GO:0005764NOT lysosome IDA14962670
    GO:0019866organelle inner membrane IDA14962670
    GO:0043202lysosomal lumen TAS--

    Find genes that share ontologies with NEU4           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for NEU4 About    
    See pathways by source

    SuperPathContained pathways About
    1Sphingolipid metabolism
    Sphingolipid metabolism0.61
    Glycosphingolipid metabolism0.56
    Sphingolipid metabolism0.61
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    3Other glycan degradation
    Other glycan degradation


    Find genes that share SuperPaths with NEU4           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Reactome Pathways for NEU4
        Sialic acid metabolism
    Glycosphingolipid metabolism


    2 Kegg Pathways  (Kegg details for NEU4):
        Other glycan degradation
    Sphingolipid metabolism

        Pathway & Disease-focused RT2 Profiler PCR Array including NEU4: 
              Glycosylation in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for NEU4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    Selected Interacting proteins for NEU4 (Q8WWR81, 2, 3 ENSP000003851494) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RBPMSQ930622, 3, ENSP000003401764MINT-68006 I2D: score=4 STRING: ENSP00000340176
    RHOXF2Q9BQY42, 3, ENSP000003604414MINT-67256 I2D: score=4 STRING: ENSP00000360441
    PLSCR1O151621, 2, 3, ENSP000003454944EBI-746964,EBI-740019 MINT-66956 I2D: score=5 STRING: ENSP00000345494
    MDFIQ997501, 3, ENSP000002303214EBI-746964,EBI-724076 I2D: score=2 STRING: ENSP00000230321
    ARSAENSP000002161244STRING: ENSP00000216124
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006516glycoprotein catabolic process IDA15213228
    GO:0006665sphingolipid metabolic process TAS--
    GO:0006687glycosphingolipid metabolic process TAS--
    GO:0006689ganglioside catabolic process IDA15213228
    GO:0009313oligosaccharide catabolic process IDA15213228

    Find genes that share ontologies with NEU4           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for NEU4 (NEUR4)

    Selected HMDB Compounds for NEU4 (see all 58)    About this table
    CompoundSynonyms CAS #PubMed Ids
    Galactosylceramide (d18:1/16:0)Galactocerebroside (see all 15)----
    Galactosylceramide (d18:1/18:0)Galactocerebroside (see all 15)----
    Galactosylceramide (d18:1/18:1(9Z))Galactocerebroside (see all 15)----
    Galactosylceramide (d18:1/20:0)Galactocerebroside (see all 15)----
    Galactosylceramide (d18:1/22:0)Galactocerebroside (see all 15)----
    Galactosylceramide (d18:1/24:1(15Z))Galactocerebroside (see all 15)----
    Galactosylceramide (d18:1/26:1(17Z))Galactocerebroside (see all 15)----
    Ganglioside GA2 (d18:1/12:0)Asialo GM2 (see all 9)88506-68-7--
    Ganglioside GA2 (d18:1/16:0)Asialo GM2 (see all 9)88506-68-7--
    Ganglioside GA2 (d18:1/18:0)Asialo GM2 (see all 9)88506-68-7--



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for NEU4 gene (5 alternative transcripts): 
    NM_001167599.1  NM_001167600.1  NM_001167601.1  NM_001167602.1  NM_080741.2  

    Unigene Cluster for NEU4:

    Sialidase 4
    Hs.551747  [show with all ESTs]
    Unigene Representative Sequence: AK096992
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000407683(uc010fzr.3 uc002wcm.3) ENST00000415936 ENST00000405370
    ENST00000476542 ENST00000435855 ENST00000406147 ENST00000423583 ENST00000404257(uc002wcn.2 uc002wcp.2)
    ENST00000391969(uc002wco.2) ENST00000325935 ENST00000435934 ENST00000435894
    ENST00000426032 ENST00000420288 ENST00000494678 ENST00000488997 ENST00000428592

    miRNA
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      QuantiTect SYBR Green Assays in human, mouse, rat NEU4
      QuantiFast Probe-based Assays in human, mouse, rat NEU4

    Additional mRNA sequence: 

    AJ277883.1 AK025617.1 AK091038.1 AK096992.1 AK289421.1 AK290076.1 AK298403.1 AK300969.1 
    AY203952.1 BC012899.1 BC063465.1 BC067780.1 BC105974.1 BC117214.1 

    6 DOTS entries:

    DT.92046342  DT.75171189  DT.100747786  DT.99930482  DT.120973961  DT.99954020 

    Selected AceView cDNA sequences (see all 38):

    NM_080741 AX746745 BC012899 AK096992 BI754607 AK091038 BU740754 BF348126 
    BG910455 BX279923 AI564945 AW002103 NM_022134 BG914073 BF529996 AI272360 
    BQ651855 BG910459 AJ277883 AK025617 BM727519 AB040610 BC063465 AY203952 

    GeneLoc Exon Structure


    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    NEU4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCCCTTGGGT
    NEU4 Expression
    About this image

    NEU4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NEU4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.551747

    UniProtKB/Swiss-Prot: NEUR4_HUMAN, Q8WWR8
    Tissue specificity: Ubiquitous with higher expression in heart, skeletal muscle, liver and placenta

        Pathway & Disease-focused RT2 Profiler PCR Array including NEU4: 
              Glycosylation in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for NEU4
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    QuantiFast Probe-based Assays in human, mouse, rat NEU4
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NEU4

    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for NEU4 gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Neu41 , 5 sialidase 41, 5 74.83(n)1
    72.18(a)1
      1 (47.46 cM)5
    2411591  NM_173772.31  NP_776133.11 
     940204935 
    chicken
    (Gallus gallus)
    Aves NEU41 sialidase 4 66.06(n)
    58.03(a)
      429131  XM_004937002.1  XP_004937059.1 
    lizard
    (Anolis carolinensis)
    Reptilia NEU46
    sialidase 4
    46(a)
    1 ↔ 1
    3(30666799-30674320)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004869761 sialidase-4-like 56.25(n)
    50.33(a)
      100486976  XM_002943057.2  XP_002943103.2 
    zebrafish
    (Danio rerio)
    Actinopterygii neu41 sialidase 4 55.13(n)
    48.8(a)
      553569  NM_001020548.2  NP_001018384.1 


    ENSEMBL Gene Tree for NEU4 (if available)
    TreeFam Gene Tree for NEU4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NEU4 gene
    NEU22  NEU32  
    2 SIMAP similar genes for NEU4 using alignment to 11 protein entries:     NEUR4_HUMAN (see all proteins):
    NEU3    NEU2

    Find genes that share paralogs with NEU4           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for NEU4 (see all 415)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1842811541,2
    --242748900(+) GCCACC/TCTCCC 2 -- us2k10--------
    rs1871665361,2
    --242748978(+) CCACCC/TTCCCT 2 -- us2k10--------
    rs1916703481,2
    --242749000(+) CCAGGA/GACCTC 2 -- us2k10--------
    rs1838158401,2
    --242749016(+) GCCACC/TCTCCC 2 -- us2k10--------
    rs1892153121,2
    --242749032(+) CCTCAA/GCCCAG 2 -- us2k10--------
    rs1925976821,2
    C--242749084(+) ACCTCC/TGCAGG 2 -- us2k10--------
    rs1856496231,2
    --242749094(+) GCCACC/TCTCCC 2 -- us2k10--------
    rs1905599441,2
    --242749110(+) CCTCAA/GCCCAG 2 -- us2k10--------
    rs1162740091,2
    F--242749123(+) ACCTCG/TGCAGG 2 -- us2k11Minor allele frequency- T:0.40NA 120
    rs3707785831,2
    C--242749167(+) AGGCC-/CCCTC 
     CCACCCT
    CCTCC
    2 -- us2k10--------

    HapMap Linkage Disequilibrium report for NEU4 (242749920 - 242758739 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for NEU4 (see all 14):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv4746CNV Deletion18987735
    esv2664751CNV Deletion23128226
    esv989515CNV Insertion20482838
    nsv876254CNV Loss21882294
    nsv470533CNV Loss18288195
    dgv4495n71CNV Loss21882294
    dgv4493n71CNV Loss21882294
    nsv876255CNV Loss21882294
    dgv4494n71CNV Loss21882294
    nsv876226CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NEU4
    DNA2.0 Custom Variant and Variant Library Synthesis for NEU4

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608527    OMIM disorders: --

    1 disease for NEU4:    
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    galactosialidosis


    Find genes that share disorders with NEU4           About GenesLikeMe


    Export disorders for NEU4 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)
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    PubMed articles for NEU4 gene, integrated from 10 sources (see all 23):
    (articles sorted by number of sources associating them with NEU4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Neu4, a novel human lysosomal lumen sialidase, confers normal phenotype to sialidosis and galactosialidosis cells. (PubMed id 15213228)1, 2, 9 Seyrantepe V....Pshezhetsky A.V. (J. Biol. Chem. 2004)
    2. Molecular cloning and characterization of NEU4, the fourth member of the human sialidase gene family. (PubMed id 14962670)1, 2, 9 Monti E.... Borsani G. (Genomics 2004)
    3. Differential expression of endogenous sialidases of human monocytes during cellular differentiation into macrophages. (PubMed id 15885103)1, 2, 9 Stamatos N.M....Pshezhetsky A.V. (FEBS J. 2005)
    4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W.... Wilson R.K. (Nature 2005)
    5. Large-scale cDNA transfection screening for genes related to cancer development and progression. (PubMed id 15498874)1, 2 Wan D....Gu J. (Proc. Natl. Acad. Sci. U.S.A. 2004)
    6. 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. (Genome Res. 2004)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. Sialidase NEU4 hydrolyzes polysialic acids of neural cell adhesion molecules and negatively regulates neurite formation by hippocampal neurons. (PubMed id 22393058)1 Takahashi K....Miyagi T. (J. Biol. Chem. 2012)
    9. NEU4L sialidase overexpression promotes I^-catenin signaling in neuroblastoma cells, enhancing stem-like malignant cell growth. (PubMed id 22287118)1 Tringali C....Venerando B. (Int. J. Cancer 2012)
    10. Regulation of sialyl Lewis antigen expression in colon cancer cells by sialidase NEU4. (PubMed id 21521691)1 Shiozaki K....Miyagi T. (J. Biol. Chem. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (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)
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    Entrez Gene: 129807 HGNC: 21328 AceView: GAL3ST2andNEU4 Ensembl:ENSG00000204099 euGenes: HUgn129807
    ECgene: NEU4 Kegg: 129807 H-InvDB: NEU4

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for NEU4 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NEU4 gene:
    Search GeneIP for patents involving NEU4

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



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