NEU4

neuraminidase 4, the group of Neuraminidases

Basic information

Region (hg38): 2:241809064-241817413

Links

ENSG00000204099 ∙ NCBI:129807 ∙ OMIM:608527 ∙ HGNC:21328 ∙ Uniprot:Q8WWR8 ∙ 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 NEU4 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NEU4 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				2		2
missense			52	2		54
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	52	4	0

Variants in NEU4

This is a list of pathogenic ClinVar variants found in the NEU4 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-241814498-G-A		not specified	Likely benign (Dec 15, 2023)
2-241814534-G-A		not specified	Uncertain significance (Jun 03, 2024)
2-241814551-C-T		not specified	Uncertain significance (Aug 02, 2023)
2-241814554-G-A		not specified	Uncertain significance (May 11, 2022)
2-241814561-C-T		not specified	Uncertain significance (Jun 03, 2022)
2-241814572-G-A		not specified	Uncertain significance (Apr 09, 2024)
2-241814587-A-C		not specified	Uncertain significance (Jun 11, 2021)
2-241814609-A-G		not specified	Uncertain significance (Nov 09, 2023)
2-241814907-G-A		not specified	Uncertain significance (Jul 20, 2021)
2-241814949-C-G		not specified	Uncertain significance (Jun 20, 2024)
2-241814955-C-T		not specified	Uncertain significance (Sep 17, 2021)
2-241815040-C-T		not specified	Uncertain significance (May 30, 2023)
2-241815058-G-A		not specified	Uncertain significance (Oct 06, 2021)
2-241815066-T-C		not specified	Uncertain significance (Apr 26, 2023)
2-241815072-G-T		not specified	Uncertain significance (Apr 15, 2024)
2-241815087-G-A		not specified	Uncertain significance (Sep 27, 2022)
2-241815105-G-T		not specified	Uncertain significance (Sep 20, 2023)
2-241815108-C-T		not specified	Uncertain significance (Mar 22, 2022)
2-241815109-G-A		not specified	Uncertain significance (Nov 09, 2021)
2-241815120-G-A			Likely benign (Dec 01, 2022)
2-241815140-C-T			Likely benign (Dec 01, 2022)
2-241816065-G-A		not specified	Uncertain significance (Oct 16, 2023)
2-241816104-C-T		not specified	Uncertain significance (Mar 27, 2023)
2-241816107-C-G		not specified	Uncertain significance (Jun 28, 2022)
2-241816119-G-A		not specified	Uncertain significance (Dec 02, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
NEU4	protein_coding	protein_coding	ENST00000325935	4	8820

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.04e-7	0.215	125127	0	130	125257	0.000519

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.162	348	340	1.02	0.0000247	3093
Missense in Polyphen		137	135.48	1.0112		1267
Synonymous	-1.27	175	155	1.13	0.0000121	1124
Loss of Function	0.113	10	10.4	0.962	5.32e-7	103

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000635	0.000554
Ashkenazi Jewish	0.00483	0.00479
East Asian	0.00	0.00
Finnish	0.000284	0.000277
European (Non-Finnish)	0.000475	0.000452
Middle Eastern	0.00	0.00
South Asian	0.000325	0.000294
Other	0.000850	0.000818

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May function in lysosomal catabolism of sialylated glycoconjugates. Has sialidase activity towards synthetic substrates, such as 2'-(4-methylumbelliferyl)-alpha-D-N- acetylneuraminic acid (4-MU-NANA or 4MU-NeuAc). Has a broad substrate specificity being active on glycoproteins, oligosaccharides and sialylated glycolipids. {ECO:0000269|PubMed:14962670, ECO:0000269|PubMed:15213228}.
• Pathway: Other glycan degradation - Homo sapiens (human);Sphingolipid metabolism - Homo sapiens (human);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: 0.222

Haploinsufficiency Scores

• pHI: 0.168
• hipred: N
• hipred_score: 0.207
• ghis: 0.483

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.986

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Neu4
• Phenotype: cellular phenotype; homeostasis/metabolism phenotype

Gene ontology

• Biological process: glycoprotein catabolic process;glycosphingolipid metabolic process;ganglioside catabolic process;oligosaccharide catabolic process
• Cellular component: cytoplasm;lysosome;membrane;organelle inner membrane;lysosomal lumen;intracellular membrane-bounded organelle
• 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