NEU4

neuraminidase 4, the group of Neuraminidases

Basic information

Region (hg38): 2:241809065-241817413

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.

not_specified (120 variants)
not_provided (3 variants)

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. These statistics are base on transcript: NM_001167600.3. 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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				2 clinvar		2
missense			116 clinvar	5 clinvar		121
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	116	7	0

Loading clinvar variants...

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