NANS (N-acetylneuraminate synthase)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 54187
Gene name N-acetylneuraminate synthase
Gene symbol NANS
Synonyms (NCBI Gene)
HEL-S-100SASSEMDCGSEMDG
Chromosome 9
Chromosome location 9q22.33
Summary This gene encodes an enzyme that functions in the biosynthetic pathways of sialic acids. In vitro, the encoded protein uses N-acetylmannosamine 6-phosphate and mannose 6-phosphate as substrates to generate phosphorylated forms of N-acetylneuraminic acid (
SNPs SNP information provided by dbSNP.
1
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1)
SNP ID Visualize variation Clinical significance Consequence
rs369033671 A>G,T Likely-pathogenic Initiator codon variant, missense variant, genic upstream transcript variant, 5 prime UTR variant
miRNA miRNA information provided by mirtarbase database.
1
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1)
miRTarBase ID miRNA Experiments Reference
MIRT043076 hsa-miR-324-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (19)
GO ID Ontology Definition Evidence Reference
GO:0005737 Component Cytoplasm NAS 10749855
GO:0005829 Component Cytosol IEA
GO:0005829 Component Cytosol IEA
GO:0005829 Component Cytosol TAS
GO:0006054 Process N-acetylneuraminate metabolic process IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
605202 19237 ENSG00000095380
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NR45
Protein name N-acetylneuraminate-9-phosphate synthase (EC 2.5.1.57) (3-deoxy-D-glycero-D-galacto-nononate 9-phosphate synthase) (EC 2.5.1.132) (N-acetylneuraminic acid phosphate synthase) (NANS) (Sialic acid phosphate synthase) (Sialic acid synthase)
Protein function Catalyzes the condensation of phosphoenolpyruvate (PEP) and N-acetylmannosamine 6-phosphate (ManNAc-6-P) to synthesize N-acetylneuraminate-9-phosphate (Neu5Ac-9-P) (PubMed:10749855). Also catalyzes the condensation of PEP and D-mannose 6-phospha
PDB 1WVO
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03102 NeuB 39 → 278 NeuB family Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:10749855}.
Sequence
Sequence length 359
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Biosynthesis of various nucleotide sugars
Metabolic pathways
Biosynthesis of nucleotide sugars 		  Sialic acid metabolism
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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)
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Spondyloepimetaphyseal dysplasia, Genevieve type Likely pathogenic; Pathogenic rs2117967310, rs2131619700, rs1828949796, rs745594354, rs879255602, rs878853267, rs779218846, rs878852980, rs878852981, rs200709126, rs922323466, rs369033671 RCV001836674
RCV002246187
RCV002246188
RCV002247147
RCV000224207
View all (7 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (11)
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
BONE DISEASES, DEVELOPMENTAL — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign; Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Benign; Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (87)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Anxiety Anxiety Disorder BEFREE 30210378, 31040807, 31434087, 31489980, 31789303
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 30210378, 31040807, 31434087, 31489980, 31789303
★★★★★
★☆☆☆☆
Found in Text Mining only
Aqueductal Stenosis Aqueductal Stenosis BEFREE 29927492
★★★★★
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 27886712
★★★★★
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 27886712
★★★★★
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation BEFREE 28526653, 31192512
★★★★★
★☆☆☆☆
Found in Text Mining only
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder BEFREE 25656289, 31834588
★★★★★
★☆☆☆☆
Found in Text Mining only
Bone Diseases, Developmental Bone Disease CTD_human_DG 27213289
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bone neoplasms Bone neoplasms BEFREE 16732325
★★★★★
★☆☆☆☆
Found in Text Mining only
Brachycephaly Brachycephaly HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only