GeneBe

NEU2

neuraminidase 2, the group of Neuraminidases

Basic information

Region (hg38): 2:233032672-233035057

Links

ENSG00000115488 ∙ NCBI:4759 ∙ OMIM:605528 ∙ HGNC:7759 ∙ Uniprot:Q9Y3R4 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the NEU2 gene.

  • not_specified (58 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NEU2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000005383.2. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
0
missense
53
clinvar
5
clinvar
 58
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 53 5 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
NEU2protein_codingprotein_codingENST00000233840 22386
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
4.53e-140.001871256742711257470.000290
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.02312432421.000.00001522446
Missense in Polyphen9998.951.00051077
Synonymous1.26981150.8500.00000804813
Loss of Function-1.621711.21.526.50e-789

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0003610.000359
Ashkenazi Jewish0.000.00
East Asian0.0003810.000381
Finnish0.00009250.0000924
European (Non-Finnish)0.0001090.000105
Middle Eastern0.0003810.000381
South Asian0.001430.00131
Other0.0004890.000489

dbNSFP

Source: dbNSFP

Function
FUNCTION: Catalyzes the removal of sialic acid (N-acetylneuraminic acid) moities from glycoproteins, oligosaccharides and gangliosides. {ECO:0000269|PubMed:14613940, ECO:0000269|PubMed:22228546}.;
Pathway
Other glycan degradation - Homo sapiens (human);Sphingolipid metabolism - Homo sapiens (human);Metabolism of lipids;Post-translational protein modification;Metabolism of proteins;Metabolism;Sialic acid metabolism;Synthesis of substrates in N-glycan biosythesis;Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein;Asparagine N-linked glycosylation;Glycosphingolipid metabolism;Sphingolipid metabolism (Consensus)

Recessive Scores

pRec
0.355

Intolerance Scores

loftool
0.222
rvis_EVS
0.13
rvis_percentile_EVS
63.49

Haploinsufficiency Scores

pHI
0.135
hipred
N
hipred_score
0.190
ghis
0.455

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.883

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Neu2
Phenotype

Gene ontology

Biological process
glycosphingolipid metabolic process;ganglioside catabolic process;oligosaccharide catabolic process;cellular oligosaccharide catabolic process
Cellular component
cytoplasm;cytosol;membrane;intracellular membrane-bounded organelle;catalytic complex
Molecular function
exo-alpha-sialidase activity;protein binding;exo-alpha-(2->3)-sialidase activity;exo-alpha-(2->6)-sialidase activity;exo-alpha-(2->8)-sialidase activity