NEU3

neuraminidase 3, the group of Neuraminidases

Basic information

Region (hg38): 11:74988279-75018893

Links

ENSG00000162139 ∙ NCBI:10825 ∙ OMIM:604617 ∙ HGNC:7760 ∙ Uniprot:Q9UQ49 ∙ 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 NEU3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NEU3 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			58	4		62
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	58	4	0

Variants in NEU3

This is a list of pathogenic ClinVar variants found in the NEU3 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-74989082-C-A		not specified	Uncertain significance (Feb 01, 2023)
11-74989104-C-T		not specified	Uncertain significance (Jan 17, 2024)
11-74989116-C-T		not specified	Uncertain significance (May 03, 2023)
11-74989119-C-T		not specified	Uncertain significance (Jan 24, 2025)
11-74989125-C-G		not specified	Likely benign (Aug 27, 2024)
11-74994510-G-C		not specified	Uncertain significance (Jun 02, 2024)
11-74994527-C-G		not specified	Uncertain significance (Mar 30, 2024)
11-74994535-T-C		not specified	Uncertain significance (Sep 01, 2024)
11-74994540-C-A		not specified	Uncertain significance (Jan 30, 2024)
11-74994586-C-T		not specified	Uncertain significance (Nov 22, 2022)
11-74994587-G-A		not specified	Uncertain significance (Jun 01, 2023)
11-74994610-C-A		not specified	Uncertain significance (May 11, 2022)
11-74994614-C-G		not specified	Uncertain significance (Apr 21, 2022)
11-74994614-C-T		not specified	Uncertain significance (Mar 01, 2024)
11-74994627-C-G		not specified	Uncertain significance (Oct 12, 2022)
11-74994647-G-A		not specified	Uncertain significance (Nov 08, 2024)
11-75005422-C-G		Marfanoid habitus and intellectual disability	Uncertain significance (-)
11-75005450-C-T		not specified	Uncertain significance (May 30, 2024)
11-75005458-C-T		not specified	Uncertain significance (Oct 05, 2021)
11-75005465-T-G		not specified	Uncertain significance (Jan 10, 2023)
11-75005470-C-T		not specified	Uncertain significance (Dec 02, 2024)
11-75005488-C-A		not specified	Uncertain significance (Jun 16, 2023)
11-75005495-G-A		not specified	Uncertain significance (Apr 28, 2022)
11-75005506-T-C		not specified	Uncertain significance (Sep 20, 2023)
11-75005528-G-T		not specified	Uncertain significance (Jan 23, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
NEU3	protein_coding	protein_coding	ENST00000294064	3	30760

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.44e-8	0.283	124564	1	131	124696	0.000529

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0967	256	260	0.983	0.0000139	2996
Missense in Polyphen		97	101.33	0.95729		1153
Synonymous	-0.152	105	103	1.02	0.00000497	955
Loss of Function	0.562	13	15.4	0.845	8.09e-7	174

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000311	0.000309
Ashkenazi Jewish	0.000107	0.0000993
East Asian	0.000834	0.000834
Finnish	0.00	0.00
European (Non-Finnish)	0.000180	0.000177
Middle Eastern	0.000834	0.000834
South Asian	0.00284	0.00281
Other	0.000504	0.000495

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays a role in modulating the ganglioside content of the lipid bilayer at the level of membrane-bound sialyl glycoconjugates. {ECO:0000269|PubMed:10861246, ECO:0000269|PubMed:20511247}.
• Pathway: Other glycan degradation - Homo sapiens (human);Sphingolipid metabolism - Homo sapiens (human);Sphingolipid Metabolism;Gaucher Disease;Globoid Cell Leukodystrophy;Metachromatic Leukodystrophy (MLD);Fabry disease;Krabbe disease;Metabolism of lipids;Post-translational protein modification;Metabolism of proteins;Metabolism;Glycosphingolipid 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: 0.304

Intolerance Scores

• loftool: 0.373
• rvis_EVS: -0.13
• rvis_percentile_EVS: 43.91

Haploinsufficiency Scores

• pHI: 0.307
• hipred: N
• hipred_score: 0.298
• ghis: 0.601

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.655

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Neu3
• Phenotype: homeostasis/metabolism phenotype; normal phenotype; neoplasm

Gene ontology

• Biological process: carbohydrate metabolic process;glycosphingolipid metabolic process;ganglioside catabolic process;oligosaccharide catabolic process
• Cellular component: cytoplasm;plasma membrane;membrane;intracellular membrane-bounded organelle
• Molecular function: exo-alpha-sialidase activity;alpha-sialidase activity;exo-alpha-(2->3)-sialidase activity;exo-alpha-(2->6)-sialidase activity;exo-alpha-(2->8)-sialidase activity