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.

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.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			31	4		35
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	31	4	0

Variants in NEU2

This is a list of pathogenic ClinVar variants found in the NEU2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
2-233032733-G-A		not specified	Uncertain significance (Sep 13, 2023)
2-233032784-C-T		not specified	Uncertain significance (Dec 04, 2024)
2-233032789-C-G		not specified	Uncertain significance (Dec 14, 2024)
2-233032792-C-T		not specified	Uncertain significance (Sep 01, 2021)
2-233032811-A-G		not specified	Uncertain significance (Jun 07, 2024)
2-233032838-G-A		not specified	Uncertain significance (Jan 30, 2024)
2-233032841-G-A		not specified	Uncertain significance (Oct 10, 2023)
2-233032852-G-A		not specified	Uncertain significance (Oct 24, 2023)
2-233034162-G-A		not specified	Uncertain significance (Feb 13, 2025)
2-233034192-C-T		not specified	Uncertain significance (Mar 28, 2024)
2-233034198-C-T		not specified	Uncertain significance (Dec 18, 2023)
2-233034218-T-G		not specified	Uncertain significance (Jan 20, 2025)
2-233034243-C-T		not specified	Uncertain significance (Oct 07, 2024)
2-233034281-C-T		not specified	Uncertain significance (Apr 08, 2024)
2-233034348-C-A		not specified	Uncertain significance (Jun 02, 2024)
2-233034363-C-T		not specified	Uncertain significance (May 23, 2023)
2-233034419-G-A		not specified	Likely benign (Oct 10, 2023)
2-233034429-G-A		not specified	Likely benign (Feb 15, 2023)
2-233034446-G-A		not specified	Uncertain significance (Mar 19, 2024)
2-233034458-C-T		not specified	Uncertain significance (Jun 07, 2024)
2-233034469-C-A		not specified	Uncertain significance (Nov 14, 2023)
2-233034603-G-A		not specified	Uncertain significance (Mar 14, 2025)
2-233034612-C-A		not specified	Uncertain significance (Jun 24, 2022)
2-233034633-T-G		not specified	Uncertain significance (Dec 14, 2023)
2-233034708-T-A		not specified	Uncertain significance (Jul 08, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
NEU2	protein_coding	protein_coding	ENST00000233840	2	2386

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.53e-14	0.00187	125674	2	71	125747	0.000290

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0231	243	242	1.00	0.0000152	2446
Missense in Polyphen		99	98.95	1.0005		1077
Synonymous	1.26	98	115	0.850	0.00000804	813
Loss of Function	-1.62	17	11.2	1.52	6.50e-7	89

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000361	0.000359
Ashkenazi Jewish	0.00	0.00
East Asian	0.000381	0.000381
Finnish	0.0000925	0.0000924
European (Non-Finnish)	0.000109	0.000105
Middle Eastern	0.000381	0.000381
South Asian	0.00143	0.00131
Other	0.000489	0.000489

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

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Neu2

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