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Gene Gene information from NCBI Gene database.
Entrez ID 10825
Gene name Neuraminidase 3
Gene symbol NEU3
Synonyms (NCBI Gene)
SIAL3
Chromosome 11
Chromosome location 11q13.4
Summary This gene product belongs to a family of glycohydrolytic enzymes which remove sialic acid residues from glycoproteins and glycolipids. It is localized in the plasma membrane, and its activity is specific for gangliosides. It may play a role in modulating
miRNA miRNA information provided by mirtarbase database.
135 Show/Hide all (135)
miRTarBase ID miRNA Experiments Reference
MIRT052460 hsa-let-7a-5p CLASH 23622248
MIRT036294 hsa-miR-1229-3p CLASH 23622248
MIRT496469 hsa-miR-4731-3p PAR-CLIP 22291592
MIRT496468 hsa-miR-4801 PAR-CLIP 22291592
MIRT496467 hsa-miR-1245b-5p PAR-CLIP 22291592
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
37 Show/Hide all (37)
GO ID Ontology Definition Evidence Reference
GO:0004308 Function Exo-alpha-sialidase activity IBA
GO:0004308 Function Exo-alpha-sialidase activity IDA 10861246, 11298736, 15847605, 17334392
GO:0004308 Function Exo-alpha-sialidase activity IEA
GO:0004308 Function Exo-alpha-sialidase activity ISS
GO:0004308 Function Exo-alpha-sialidase activity TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604617 7760 ENSG00000162139
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UQ49
Protein name Sialidase-3 (EC 3.2.1.18) (Ganglioside sialidasedis) (Membrane sialidase) (N-acetyl-alpha-neuraminidase 3)
Protein function Exo-alpha-sialidase that catalyzes the hydrolytic cleavage of the terminal sialic acid (N-acetylneuraminic acid, Neu5Ac) of a glycan moiety in the catabolism of glycolipids, glycoproteins and oligosacharides. Displays high catalytic efficiency f
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13088 BNR_2 36 → 384 BNR repeat-like domain Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in skeletal muscle, testis, adrenal gland and thymus, followed by pancreas, liver, heart and thymus. Weakly expressed in kidney, placenta, brain and lung. {ECO:0000269|PubMed:10861246}.
Sequence
Sequence length 428
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
Other glycan degradation Glycosphingolipid metabolism
Sphingolipid metabolism Sialic acid metabolism
Metabolic pathways  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
EBV-positive nodal T- and NK-cell lymphoma Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Marfanoid habitus and intellectual disability Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (43)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 19588508
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Clear Cell Adenocarcinoma BEFREE 17476974
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 19588508
★★★★★
★☆☆☆☆
Found in Text Mining only
Amnesia Amnesia BEFREE 28442549
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 30259272 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 18023981
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 16428383 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 23139422 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 29278877
★★★★★
★☆☆☆☆
Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia Lymphoblastic Leukemia BEFREE 19588508
★★★★★
★☆☆☆☆
Found in Text Mining only