ST8SIA2 (ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2)

2007-02-01  

Identity

HGNC
LOCATION
15q26.1
LOCUSID
ALIAS
HsT19690,SIAT8-B,SIAT8B,ST8SIA-II,ST8SiaII,STX
FUSION GENES

Other Information

Locus ID:

NCBI: 8128
MIM: 602546
HGNC: 10870
Ensembl: ENSG00000140557

Variants:

dbSNP: 8128
ClinVar: 8128
TCGA: ENSG00000140557
COSMIC: ST8SIA2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000140557ENST00000268164Q92186
ENSG00000140557ENST00000268164B2R9U8
ENSG00000140557ENST00000539113C6G488
ENSG00000140557ENST00000555434G3V2T1

Expression (GTEx)

0
1
2

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent proteinREACTOMER-HSA-446193
Synthesis of substrates in N-glycan biosythesisREACTOMER-HSA-446219
Sialic acid metabolismREACTOMER-HSA-4085001
Transport to the Golgi and subsequent modificationREACTOMER-HSA-948021
N-glycan antennae elongation in the medial/trans-GolgiREACTOMER-HSA-975576
N-Glycan antennae elongationREACTOMER-HSA-975577
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
NCAM signaling for neurite out-growthREACTOMER-HSA-375165
NCAM1 interactionsREACTOMER-HSA-419037

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
206639232010A genome-wide scan for common alleles affecting risk for autism.239
215555182011The BTB and CNC homology 1 (BACH1) target genes are involved in the oxidative stress response and in control of the cell cycle.60
203865662011Genome-wide association study of bipolar I disorder in the Han Chinese population.50
162298222006Association between polymorphisms in the promoter region of the sialyltransferase 8B (SIAT8B) gene and schizophrenia.35
162298222006Association between polymorphisms in the promoter region of the sialyltransferase 8B (SIAT8B) gene and schizophrenia.35
214641262011Structural and functional impairments of polysialic acid by a mutated polysialyltransferase found in schizophrenia.35
171265332007Positive association between SIAT8B and schizophrenia in the Chinese Han population.32
236712852013Polysialic acid is present in mammalian semen as a post-translational modification of the neural cell adhesion molecule NCAM and the polysialyltransferase ST8SiaII.18
226935952012Identification of sialyltransferase 8B as a generalized susceptibility gene for psychotic and mood disorders on chromosome 15q25-26.16
193364002009Identification of sequences in the polysialyltransferases ST8Sia II and ST8Sia IV that are required for the protein-specific polysialylation of the neural cell adhesion molecule, NCAM.14

Citation

Dessen P

ST8SIA2 (ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43663/st8sia2