SIAE (sialic acid acetylesterase)

2012-04-01  

Identity

HGNC
LOCATION
11q24.2
LOCUSID
ALIAS
AIS6,CSE-C,CSEC,LSE,YSG2
FUSION GENES

Other Information

Locus ID:

NCBI: 54414
MIM: 610079
HGNC: 18187
Ensembl: ENSG00000110013

Variants:

dbSNP: 54414
ClinVar: 54414
TCGA: ENSG00000110013
COSMIC: SIAE

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000110013ENST00000263593Q9HAT2
ENSG00000110013ENST00000545756Q9HAT2
ENSG00000110013ENST00000618733Q9HAT2

Expression (GTEx)

0
10
20
30
40
50
60

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
205553252010Functionally defective germline variants of sialic acid acetylesterase in autoimmunity.65
205553252010Functionally defective germline variants of sialic acid acetylesterase in autoimmunity.65
211832182011Transcriptional profiling of human placentas from pregnancies complicated by preeclampsia reveals disregulation of sialic acid acetylesterase and immune signalling pathways.36
222578402012Association of primary biliary cirrhosis with variants in the CLEC16A, SOCS1, SPIB and SIAE immunomodulatory genes.30
218038342012Regulation of O-acetylation of sialic acids by sialate-O-acetyltransferase and sialate-O-acetylesterase activities in childhood acute lymphoblastic leukemia.12
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
233082252013M89V Sialic acid Acetyl Esterase (SIAE) and all other non-synonymous common variants of this gene are catalytically normal.6
216153382011Functionally defective germline variant of sialic acid acetylesterase (Met89Val) is not associated with type 1 diabetes mellitus and Graves' disease in a Polish population.5
247484562014A missense single-nucleotide polymorphism in the sialic acid acetylesterase (SIAE) gene is associated with anti-PIT-1 antibody syndrome.3

Citation

Dessen P

SIAE (sialic acid acetylesterase)

Atlas Genet Cytogenet Oncol Haematol. 2012-04-01

Online version: http://atlasgeneticsoncology.org/gene/52673/siae