Gene Gene information from NCBI Gene database.
Entrez ID 129807
Gene name Neuraminidase 4
Gene symbol NEU4
Synonyms (NCBI Gene)
-
Chromosome 2
Chromosome location 2q37.3
Summary The protein encoded by this gene belongs to a family of glycohydrolytic enzymes, which remove terminal sialic acid residues from various sialo derivatives, such as glycoproteins, glycolipids, oligosaccharides, and gangliosides. Alternatively spliced trans
miRNA miRNA information provided by mirtarbase database.
13
miRTarBase ID miRNA Experiments Reference
MIRT022484 hsa-miR-124-3p Microarray 18668037
MIRT1180974 hsa-miR-3177-3p CLIP-seq
MIRT1180975 hsa-miR-3622b-5p CLIP-seq
MIRT1180976 hsa-miR-4253 CLIP-seq
MIRT1180977 hsa-miR-4676-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
37
GO ID Ontology Definition Evidence Reference
GO:0004308 Function Exo-alpha-sialidase activity IBA
GO:0004308 Function Exo-alpha-sialidase activity IDA 14962670, 15213228, 15847605
GO:0004308 Function Exo-alpha-sialidase activity IEA
GO:0004308 Function Exo-alpha-sialidase activity TAS
GO:0005515 Function Protein binding IPI 16189514, 19060904, 19447967, 21516116, 25416956, 32296183
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608527 21328 ENSG00000204099
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8WWR8
Protein name Sialidase-4 (EC 3.2.1.18) (N-acetyl-alpha-neuraminidase 4)
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. Efficiently hydrolyzes gangliosides
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13088 BNR_2 34 279 BNR repeat-like domain Domain
Tissue specificity TISSUE SPECIFICITY: [Isoform 1]: Predominant form in liver. Also expressed in brain, kidney and colon. {ECO:0000269|PubMed:14962670, ECO:0000269|PubMed:15847605}.; TISSUE SPECIFICITY: [Isoform 2]: Highly expressed in brain and at lower levels in kidney an
Sequence
MGVPRTPSRTVLFERERTGLTYRVPSLLPVPPGPTLLAFVEQRLSPDDSHAHRLVLRRGT
LAGGSVRWGALHVLGTAALAEHRSMNPCPVHDAGTGTVFLFFIAVLGHTPEAVQIATGRN
AARLCCVASRDAGLSWGSARDLTEEAIGGAVQDWATFAVGPGHGVQLPSGRLLVPAYTYR
VDRRECFGKICRTSPHSFAFYSDDHGRTWRCGGLVPNLRSGECQLAAVDGGQAGSFLYCN
ARSPLGSRVQALSTDEGTSFLPAERVASLPETAWGCQGS
IVGFPAPAPNRPRDDSWSVGP
GSPLQPPLLGPGVHEPPEEAAVDPRGGQVPGGPFSRLQPRGDGPRQPGPRPGVSGDVGSW
TLALPMPFAAPPQSPTWLLYSHPVGRRARLHMGIRLSQSPLDPRSWTEPWVIYEGPSGYS
DLASIGPAPEGGLVFACLYESGARTSYDEISFCTFSLREVLENVPASPKPPNLGDKPRGC
CWPS
Sequence length 484
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Other glycan degradation
Sphingolipid metabolism
Metabolic pathways
  Glycosphingolipid metabolism
Sialic acid metabolism
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 Evidence Score
ATOPIC ECZEMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NARCOLEPSY-CATAPLEXY SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Colorectal Neoplasms Colorectal neoplasm Pubtator 17270019, 30700826 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 21521691 Inhibit
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma BEFREE 25144716
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma Pubtator 25144716 Associate
★☆☆☆☆
Found in Text Mining only
Glioblastoma Multiforme Glioblastoma BEFREE 25144716
★☆☆☆☆
Found in Text Mining only
Hypoxia Hypoxia Pubtator 21521691 Inhibit
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 29278877
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 25144716, 29278877
★☆☆☆☆
Found in Text Mining only
nervous system disorder Nervous System Disorder BEFREE 30359429
★☆☆☆☆
Found in Text Mining only
Neuroblastoma Neuroblastoma BEFREE 25144716
★☆☆☆☆
Found in Text Mining only