NEU2
protein-codingneuraminidase 2, the group of Neuraminidases
Gene summary
This gene belongs to a family of glycohydrolytic enzymes which remove sialic acid residues from glycoproteins and glycolipids. Expression studies in COS7 cells confirmed that this gene encodes a functional sialidase. Its cytosolic localization was demonstrated by cell fractionation experiments. [provided by RefSeq, Jul 2008]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~2.4 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to NEU2 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_005383.2. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 56 | 5 | 61 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 56 | 5 | 0 | 61 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_005374.2 | 2 | MANE Select | |
| Ensembl | ENSP00000233840.3 | 2 | MANE Select | |
| Ensembl | ENSP00000521075.1 | 2 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Other glycan degradation - Homo sapiens (human)
- Sphingolipid metabolism - Homo sapiens (human)
- Metabolism of lipids
- Post-translational protein modification
- Metabolism of proteins
Biological Process
- glycosphingolipid metabolic process
- ganglioside catabolic process
- oligosaccharide catabolic process
- cellular oligosaccharide catabolic process
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
Cellular Component
- cytoplasm
- cytosol
- membrane
- intracellular membrane-bounded organelle
- catalytic complex
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000233840
- Coding exons
- 2
- Length
- 2386
- Individuals with no LoFs
- 125674
- Homozygous LoFs
- 2
- Heterozygous LoFs
- 71
- Defined
- 125747
- p
- 0.000290
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.0231 | 243 | 242 | 1.00 | 0.0000152 | 2446 |
| Missense (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 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00019 | 0.00018 | rare |
| Latino/Admixed American | 0.00017 | 0.00017 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.00038 | 0.00038 | rare |
| Finnish | 0.000093 | 0.000092 | rare |
| European (Non-Finnish) | 0.00011 | 0.00011 | rare |
| South Asian | 0.0014 | 0.0013 | notable |
| Other | 0.00049 | 0.00049 | rare |
dbNSFP Gene Annotations
Source:
- 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}.;
Recessive Scores
- pRec
- 0.355
Intolerance Scores
- LoFtool
- 0.222
- RVIS EVS
- 0.13
- RVIS percentile EVS
- 63.49
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.883
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |