Identity
HGNC
LOCATION
11q24.2
LOCUSID
ALIAS
AIS6,CSE-C,CSEC,LSE,YSG2
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: 54414
MIM: 610079
HGNC: 18187
Ensembl: ENSG00000110013
Variants:
dbSNP: 54414
ClinVar: 54414
TCGA: ENSG00000110013
COSMIC: SIAE
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000110013 | ENST00000263593 | Q9HAT2 |
| ENSG00000110013 | ENST00000545756 | Q9HAT2 |
| ENSG00000110013 | ENST00000618733 | Q9HAT2 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 28900629 | 2017 | SIAE Rare Variants in Juvenile Idiopathic Arthritis and Primary Antibody Deficiencies. | 2 |
| 28900629 | 2017 | SIAE Rare Variants in Juvenile Idiopathic Arthritis and Primary Antibody Deficiencies. | 2 |
| 26535733 | 2015 | Lack of association between rare mutations of the SIAE gene and rheumatoid arthritis in a Han Chinese population. | 4 |
| 26535733 | 2015 | Lack of association between rare mutations of the SIAE gene and rheumatoid arthritis in a Han Chinese population. | 4 |
| 24748456 | 2014 | A missense single-nucleotide polymorphism in the sialic acid acetylesterase (SIAE) gene is associated with anti-PIT-1 antibody syndrome. | 7 |
| 24748456 | 2014 | A missense single-nucleotide polymorphism in the sialic acid acetylesterase (SIAE) gene is associated with anti-PIT-1 antibody syndrome. | 7 |
| 22913750 | 2013 | No evidence for rare pathological SIAE coding variants in patients with vitiligo. | 1 |
| 23308225 | 2013 | M89V Sialic acid Acetyl Esterase (SIAE) and all other non-synonymous common variants of this gene are catalytically normal. | 8 |
| 22913750 | 2013 | No evidence for rare pathological SIAE coding variants in patients with vitiligo. | 1 |
| 23308225 | 2013 | M89V Sialic acid Acetyl Esterase (SIAE) and all other non-synonymous common variants of this gene are catalytically normal. | 8 |
| 21803834 | 2012 | Regulation of O-acetylation of sialic acids by sialate-O-acetyltransferase and sialate-O-acetylesterase activities in childhood acute lymphoblastic leukemia. | 15 |
| 22257840 | 2012 | Association of primary biliary cirrhosis with variants in the CLEC16A, SOCS1, SPIB and SIAE immunomodulatory genes. | 41 |
| 23011869 | 2012 | The role of functionally defective rare germline variants of sialic acid acetylesterase in autoimmune Addison's disease. | 4 |
| 21803834 | 2012 | Regulation of O-acetylation of sialic acids by sialate-O-acetyltransferase and sialate-O-acetylesterase activities in childhood acute lymphoblastic leukemia. | 15 |
| 22257840 | 2012 | Association of primary biliary cirrhosis with variants in the CLEC16A, SOCS1, SPIB and SIAE immunomodulatory genes. | 41 |
Citation
Dessen P
SIAE (sialic acid acetylesterase)
Atlas Genet Cytogenet Oncol Haematol. 2012-04-01
Online version: http://atlasgeneticsoncology.org/gene/52673/siae
