Human Gene NEU2 (uc010zmn.2)
  Description: Homo sapiens sialidase 2 (cytosolic sialidase) (NEU2), mRNA.
RefSeq Summary (NM_005383): 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].
Transcript (Including UTRs)
   Position: hg19 chr2:233,897,382-233,899,767 Size: 2,386 Total Exon Count: 2 Strand: +
Coding Region
   Position: hg19 chr2:233,897,382-233,899,767 Size: 2,386 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:233,897,382-233,899,767)mRNA (may differ from genome)Protein (380 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkHGNCHPRDLynxMalacardsMGI
neXtProtOMIMPubMedReactomeTreefamUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: NEUR2_HUMAN
DESCRIPTION: RecName: Full=Sialidase-2; EC=3.2.1.18; AltName: Full=Cytosolic sialidase; AltName: Full=N-acetyl-alpha-neuraminidase 2;
FUNCTION: Hydrolyzes sialylated compounds.
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.
SUBCELLULAR LOCATION: Cytoplasm (By similarity).
TISSUE SPECIFICITY: Expressed in skeletal muscle, fetal liver and embryonic carcinoma cell line NT2-D1.
SIMILARITY: Belongs to the glycosyl hydrolase 33 family.
SIMILARITY: Contains 2 BNR repeats.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): NEU2
CDC HuGE Published Literature: NEU2
Positive Disease Associations: Forced Vital Capacity
Related Studies:
  1. Forced Vital Capacity
    , , . [PubMed 0]

-  MalaCards Disease Associations
  MalaCards Gene Search: NEU2
Diseases sorted by gene-association score: discrete subaortic stenosis (16), subvalvular aortic stenosis (9), galactosialidosis (9), pineal parenchymal tumor of intermediate differentiation (8), glycoproteinosis (7)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 0.78 RPKM in Skin - Sun Exposed (Lower leg)
Total median expression: 1.43 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011040 - Neuraminidase
IPR026945 - Sialidase-2
IPR026856 - Sialidase_fam

Pfam Domains:
PF13088 - BNR repeat-like domain

SCOP Domains:
50939 - Sialidases (neuraminidases)
110296 - Oligoxyloglucan reducing end-specific cellobiohydrolase

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1SNT - X-ray MuPIT 1SO7 - X-ray MuPIT 1VCU - X-ray MuPIT 2F0Z - X-ray MuPIT 2F10 - X-ray MuPIT 2F11 - X-ray MuPIT 2F12 - X-ray MuPIT 2F13 - X-ray MuPIT 2F24 - X-ray MuPIT 2F25 - X-ray MuPIT 2F26 - X-ray MuPIT 2F27 - X-ray MuPIT 2F28 - X-ray MuPIT 2F29 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9Y3R4
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004308 exo-alpha-sialidase activity
GO:0005515 protein binding
GO:0016787 hydrolase activity
GO:0016798 hydrolase activity, acting on glycosyl bonds
GO:0052794 exo-alpha-(2->3)-sialidase activity
GO:0052795 exo-alpha-(2->6)-sialidase activity
GO:0052796 exo-alpha-(2->8)-sialidase activity

Biological Process:
GO:0005975 carbohydrate metabolic process
GO:0006629 lipid metabolic process
GO:0006687 glycosphingolipid metabolic process
GO:0006689 ganglioside catabolic process
GO:0008152 metabolic process
GO:0009313 oligosaccharide catabolic process
GO:0016042 lipid catabolic process
GO:0051692 cellular oligosaccharide catabolic process

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0016020 membrane
GO:0043231 intracellular membrane-bounded organelle
GO:1902494 catalytic complex


-  Descriptions from all associated GenBank mRNAs
  KJ897238 - Synthetic construct Homo sapiens clone ccsbBroadEn_06632 NEU2 gene, encodes complete protein.
KR711765 - Synthetic construct Homo sapiens clone CCSBHm_00030805 NEU2 (NEU2) mRNA, encodes complete protein.
BC069151 - Homo sapiens sialidase 2 (cytosolic sialidase), mRNA (cDNA clone MGC:95436 IMAGE:7217011), complete cds.
BC107053 - Homo sapiens sialidase 2 (cytosolic sialidase), mRNA (cDNA clone MGC:129579 IMAGE:40004620), complete cds.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00511 - Other glycan degradation
hsa00600 - Sphingolipid metabolism

Reactome (by CSHL, EBI, and GO)

Protein Q9Y3R4 (Reactome details) participates in the following event(s):

R-HSA-1605723 Neu5Ac is cleaved from GM3 by NEU2 to form a globoside (cytosol)
R-HSA-4085029 NEU2 hydrolyzes Neu5Ac from glycoconjugates
R-HSA-1660662 Glycosphingolipid metabolism
R-HSA-4085001 Sialic acid metabolism
R-HSA-428157 Sphingolipid metabolism
R-HSA-446219 Synthesis of substrates in N-glycan biosythesis
R-HSA-556833 Metabolism of lipids
R-HSA-446193 Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
R-HSA-1430728 Metabolism
R-HSA-446203 Asparagine N-linked glycosylation
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: NEUR2_HUMAN, NM_005383, NP_005374, Q3KNW4, Q6NTB4, Q9Y3R4
UCSC ID: uc010zmn.2
RefSeq Accession: NM_005383
Protein: Q9Y3R4 (aka NEUR2_HUMAN or NER2_HUMAN)
CCDS: CCDS2501.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_005383.2
exon count: 2CDS single in 3' UTR: no RNA size: 1143
ORF size: 1143CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2486.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.