Identity
HGNC
LOCATION
9q22.33
LOCUSID
ALIAS
HEL-S-100,SAS,SEMDCG,SEMDG
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 54187
MIM: 605202
HGNC: 19237
Ensembl: ENSG00000095380
Variants:
dbSNP: 54187
ClinVar: 54187
TCGA: ENSG00000095380
COSMIC: NANS
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000095380 | ENST00000210444 | Q9NR45 |
| ENSG00000095380 | ENST00000415280 | Q5TBR1 |
| ENSG00000095380 | ENST00000427646 | Q5TBR0 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38000033 | 2023 | Neurodevelopmental defects in human cortical organoids with N-acetylneuraminic acid synthase mutation. | 0 |
| 38000033 | 2023 | Neurodevelopmental defects in human cortical organoids with N-acetylneuraminic acid synthase mutation. | 0 |
| 27213289 | 2016 | NANS-mediated synthesis of sialic acid is required for brain and skeletal development. | 75 |
| 27213289 | 2016 | NANS-mediated synthesis of sialic acid is required for brain and skeletal development. | 75 |
| 20800603 | 2010 | Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. | 14 |
| 20800603 | 2010 | Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. | 14 |
| 16597820 | 2006 | Solution structure of the antifreeze-like domain of human sialic acid synthase. | 6 |
| 16597820 | 2006 | Solution structure of the antifreeze-like domain of human sialic acid synthase. | 6 |
| 16274664 | 2005 | Cloning, expression, and characterization of sialic acid synthases. | 11 |
| 16274664 | 2005 | Cloning, expression, and characterization of sialic acid synthases. | 11 |
Citation
Dessen P
NANS (N-acetylneuraminate synthase)
Atlas Genet Cytogenet Oncol Haematol. 2003-02-01
Online version: http://atlasgeneticsoncology.org/gene/41493/nans
