SIAE (sialic acid acetylesterase)

2012-04-01 Affiliation

Identity

HGNC

SIAE

LOCATION

11q24.2

LOCUSID

54414

ALIAS

AIS6,CSE-C,CSEC,LSE,YSG2

FUSION GENES

Show Gene Fusions

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)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Protein levels (Protein atlas)

Not detected

Low

Medium

High

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