This gene belongs to a family of glycohydrolytic enzymes which remove sialic acid residues from glycoproteins and glycolipids. Expression studies in COS7 cells confirmed that this gene encodes a functional sialidase. Its cytosolic localization was demonstrated by cell fractionation experiments. [provided by RefSeq, Jul 2008] See more...

Aliases for NEU2 Gene

Aliases for NEU2 Gene

  • Neuraminidase 2 2 3 5
  • N-Acetyl-Alpha-Neuraminidase 2 2 3 4
  • Sialidase 2 (Cytosolic Sialidase) 2 3
  • Cytosolic Sialidase 3 4
  • Sialidase-2 3 4
  • EC 3.2.1.18 4 52
  • Neuraminidase 2 (Cytosolic Sialidase) 2
  • SIAL2 3

External Ids for NEU2 Gene

Previous GeneCards Identifiers for NEU2 Gene

  • GC02P231954
  • GC02P232626
  • GC02P233861
  • GC02P234099
  • GC02P233722
  • GC02P233605
  • GC02P233897
  • GC02P225744

Summaries for NEU2 Gene

Entrez Gene Summary for NEU2 Gene

  • This gene belongs to a family of glycohydrolytic enzymes which remove sialic acid residues from glycoproteins and glycolipids. Expression studies in COS7 cells confirmed that this gene encodes a functional sialidase. Its cytosolic localization was demonstrated by cell fractionation experiments. [provided by RefSeq, Jul 2008]

GeneCards Summary for NEU2 Gene

NEU2 (Neuraminidase 2) is a Protein Coding gene. Diseases associated with NEU2 include Discrete Subaortic Stenosis and Cardiomyopathy, Dilated, 1G. Among its related pathways are Metabolism of proteins and Sphingolipid metabolism. Gene Ontology (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 NEU4.

UniProtKB/Swiss-Prot Summary for NEU2 Gene

  • Catalyzes the removal of sialic acid (N-acetylneuraminic acid) moieties from glycoproteins, oligosaccharides and gangliosides.

Gene Wiki entry for NEU2 Gene

Additional gene information for NEU2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NEU2 Gene

Genomics for NEU2 Gene

GeneHancer (GH) Regulatory Elements for NEU2 Gene

Promoters and enhancers for NEU2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J233029 Promoter/Enhancer 0.7 EPDnew ENCODE 500.4 +6.9 6884 1.1 ZGPAT CTCF PKNOX1 NEU2 INPP5D
GH02J233059 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 12.7 +38.9 38886 5.8 EP300 FOXK2 ZBTB40 CTCF SIN3A POLR2G SP1 NCOR1 POLR2A KDM6A INPP5D NEU2 NGEF ATG16L1 RF00017-3463
GH02J232836 Promoter/Enhancer 1.3 FANTOM5 Ensembl ENCODE 5.9 -184.7 -184658 3.1 AFF1 JUN NCOR1 TCF12 NFIC FOSL1 GABPA PBX2 RBM22 NBN NGEF SNORC NEU2 ENSG00000199781 NONHSAG030805.2 GIGYF2
GH02J233230 Enhancer 0.8 FANTOM5 ENCODE dbSUPER 2.7 +207.9 207909 0.9 IRF1 IRF2 GATA1 PKNOX1 ATG16L1 SCARNA5 INPP5D NEU2 USP40 DGKD AY077737
GH02J232628 Enhancer 0.9 FANTOM5 Ensembl ENCODE dbSUPER 2 -394.1 -394147 0.8 USF1 MAX RAD51 MNT GIGYF2 EFHD1 NEU2 ENSG00000237126 RF00017-3459 lnc-GIGYF2-3 RN7SL359P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NEU2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NEU2

Top Transcription factor binding sites by QIAGEN in the NEU2 gene promoter:
  • Brachyury
  • C/EBPalpha
  • FOXJ2
  • FOXJ2 (long isoform)
  • HOXA9
  • Meis-1
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • RORalpha2

Genomic Locations for NEU2 Gene

Genomic Locations for NEU2 Gene
chr2:233,023,056-233,035,532
(GRCh38/hg38)
Size:
12,477 bases
Orientation:
Plus strand
chr2:233,897,382-233,899,767
(GRCh37/hg19)
Size:
2,386 bases
Orientation:
Plus strand

Genomic View for NEU2 Gene

Genes around NEU2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NEU2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NEU2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NEU2 Gene

Proteins for NEU2 Gene

  • Protein details for NEU2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y3R4-NEUR2_HUMAN
    Recommended name:
    Sialidase-2
    Protein Accession:
    Q9Y3R4
    Secondary Accessions:
    • Q3KNW4
    • Q6NTB4

    Protein attributes for NEU2 Gene

    Size:
    380 amino acids
    Molecular mass:
    42254 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for NEU2 Gene

neXtProt entry for NEU2 Gene

Selected DME Specific Peptides for NEU2 Gene

Q9Y3R4:
  • HRSMNPCP
  • TFAVGPGH
  • CAYSDLQ

Post-translational modifications for NEU2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NEU2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for NEU2 Gene

Gene Families for NEU2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for NEU2 Gene

Suggested Antigen Peptide Sequences for NEU2 Gene

GenScript: Design optimal peptide antigens:
  • N-acetyl-alpha-neuraminidase 2 (NEUR2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y3R4

UniProtKB/Swiss-Prot:

NEUR2_HUMAN :
  • Belongs to the glycosyl hydrolase 33 family.
Family:
  • Belongs to the glycosyl hydrolase 33 family.
genes like me logo Genes that share domains with NEU2: view

Function for NEU2 Gene

Molecular function for NEU2 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the removal of sialic acid (N-acetylneuraminic acid) moieties from glycoproteins, oligosaccharides and gangliosides.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=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.; EC=3.2.1.18; Evidence=. ;.
GENATLAS Biochemistry:
neuraminidase,glycohydrolytic enzyme,cytosolic,expressed in adult muscle

Enzyme Numbers (IUBMB) for NEU2 Gene

Phenotypes From GWAS Catalog for NEU2 Gene

Gene Ontology (GO) - Molecular Function for NEU2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004308 exo-alpha-sialidase activity TAS --
GO:0005515 protein binding IPI 25416956
GO:0016787 hydrolase activity IEA --
GO:0016798 hydrolase activity, acting on glycosyl bonds IEA --
GO:0052794 exo-alpha-(2->3)-sialidase activity IDA,IEA 22228546
genes like me logo Genes that share ontologies with NEU2: view
genes like me logo Genes that share phenotypes with NEU2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NEU2

Clone Products

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for NEU2 Gene

Localization for NEU2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NEU2 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NEU2 gene
Compartment Confidence
cytosol 5
lysosome 4
nucleus 3
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 1
endosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for NEU2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA,TAS 21873635
GO:0005764 lysosome IBA 21873635
GO:0005829 cytosol IDA,TAS --
GO:0016020 membrane IBA 21873635
GO:0043231 intracellular membrane-bounded organelle IBA 21873635
genes like me logo Genes that share ontologies with NEU2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NEU2 Gene

Pathways & Interactions for NEU2 Gene

genes like me logo Genes that share pathways with NEU2: view

Gene Ontology (GO) - Biological Process for NEU2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0006629 lipid metabolic process IEA --
GO:0006687 glycosphingolipid metabolic process TAS --
GO:0006689 ganglioside catabolic process IBA,IDA 22228546
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with NEU2: view

No data available for SIGNOR curated interactions for NEU2 Gene

Drugs & Compounds for NEU2 Gene

(6) Drugs for NEU2 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Oseltamivir Approved Pharma Target, inhibitor 120
Zanamivir Approved, Investigational Pharma Target, inhibitor 25
Water Approved Pharma 0
2-deoxy-2,3-dehydro-N-acetylneuraminic acid Experimental Pharma Target 0
5-ACETAMIDO-5,6-DIHYDRO-4-HYDROXY-6-ISOBUTOXY-4H-PYRAN-2-CARBOXYLIC ACID Experimental Pharma Target 0

(59) Additional Compounds for NEU2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Galactosylceramide (d18:1/16:0)
  • a-GalCer
  • alpha-GalCer
  • Cerebroside
  • D-Galactosyl-N-acylsphingosine
  • D-Galactosylceramide
Galactosylceramide (d18:1/18:0)
  • a-GalCer
  • alpha-GalCer
  • Cerebroside
  • D-Galactosyl-N-acylsphingosine
  • D-Galactosylceramide
Galactosylceramide (d18:1/18:1(9Z))
  • a-GalCer
  • alpha-GalCer
  • Cerebroside
  • D-Galactosyl-N-acylsphingosine
  • D-Galactosylceramide
Galactosylceramide (d18:1/20:0)
  • a-GalCer
  • alpha-GalCer
  • Cerebroside
  • D-Galactosyl-N-acylsphingosine
  • D-Galactosylceramide
Galactosylceramide (d18:1/22:0)
  • a-GalCer
  • alpha-GalCer
  • Cerebroside
  • D-Galactosyl-N-acylsphingosine
  • D-Galactosylceramide
genes like me logo Genes that share compounds with NEU2: view

Transcripts for NEU2 Gene

mRNA/cDNA for NEU2 Gene

1 REFSEQ mRNAs :
2 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NEU2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NEU2 Gene

No ASD Table

Relevant External Links for NEU2 Gene

GeneLoc Exon Structure for
NEU2

Expression for NEU2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NEU2 Gene

mRNA differential expression in normal tissues according to GTEx for NEU2 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x35.4) and Skin - Sun Exposed (Lower leg) (x14.8).

Protein differential expression in normal tissues from HIPED for NEU2 Gene

This gene is overexpressed in Hair follicle (58.1) and Liver, secretome (9.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NEU2 Gene



Protein tissue co-expression partners for NEU2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NEU2

SOURCE GeneReport for Unigene cluster for NEU2 Gene:

Hs.532681

mRNA Expression by UniProt/SwissProt for NEU2 Gene:

Q9Y3R4-NEUR2_HUMAN
Tissue specificity: Expressed in skeletal muscle, fetal liver and embryonic carcinoma cell line NT2-D1.
genes like me logo Genes that share expression patterns with NEU2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for NEU2 Gene

Orthologs for NEU2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NEU2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NEU2 31 30
  • 97.72 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NEU2 31 30
  • 81.52 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NEU2 31 30
  • 79.6 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Neu2 17 31 30
  • 74.91 (n)
rat
(Rattus norvegicus)
Mammalia Neu2 30
  • 74.33 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NEU2 31
  • 59 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NEU2 31
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves NEU2 31 30
  • 63.11 (n)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii neu3.1 31
  • 35 (a)
ManyToMany
Species where no ortholog for NEU2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NEU2 Gene

ENSEMBL:
Gene Tree for NEU2 (if available)
TreeFam:
Gene Tree for NEU2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NEU2: view image

Paralogs for NEU2 Gene

Paralogs for NEU2 Gene

(2) SIMAP similar genes for NEU2 Gene using alignment to 1 proteins:

  • NEUR2_HUMAN
genes like me logo Genes that share paralogs with NEU2: view

Variants for NEU2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NEU2 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs2233384 - p.Ser11Arg
rs2233385 - p.Arg41Gln
rs2233390 - p.Ala145Thr
rs2233391 - p.His168Asn
rs2233393 - p.Arg182Gln

Additional dbSNP identifiers (rs#s) for NEU2 Gene

Variation tolerance for NEU2 Gene

Residual Variation Intolerance Score: 79.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.62; 65.51% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NEU2 Gene

Human Gene Mutation Database (HGMD)
NEU2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NEU2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for NEU2 Gene

Disorders for NEU2 Gene

MalaCards: The human disease database

(9) MalaCards diseases for NEU2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
discrete subaortic stenosis
cardiomyopathy, dilated, 1g
  • cmd1g
glycoproteinosis
  • mucolipidosis i
galactosialidosis
  • gsl
subvalvular aortic stenosis
  • fixed subaortic stenosis
- elite association - COSMIC cancer census association via MalaCards
Search NEU2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NEU2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NEU2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NEU2 Gene

Publications for NEU2 Gene

  1. Properties of recombinant human cytosolic sialidase HsNEU2. The enzyme hydrolyzes monomerically dispersed GM1 ganglioside molecules. (PMID: 14613940) Tringali C … Monti E (The Journal of biological chemistry 2004) 2 3 4 23 54
  2. A nonsynonymous SNP in human cytosolic sialidase in a small Asian population results in reduced enzyme activity: potential link with severe adverse reactions to oseltamivir. (PMID: 17426694) Li CY … Wei L (Cell research 2007) 3 4 23 54
  3. Crystal structure of the human cytosolic sialidase Neu2. Evidence for the dynamic nature of substrate recognition. (PMID: 15501818) Chavas LM … Wakatsuki S (The Journal of biological chemistry 2005) 3 4 23 54
  4. Cloning and characterization of NEU2, a human gene homologous to rodent soluble sialidases. (PMID: 10191093) Monti E … Borsani G (Genomics 1999) 2 3 4 54
  5. Molecular insight into substrate recognition by human cytosolic sialidase NEU2. (PMID: 22228546) Mozzi A … Monti E (Proteins 2012) 3 4 54

Products for NEU2 Gene

Sources for NEU2 Gene