Human Gene Module / Chromosome 15 / ST8SIA2

ST8SIA2ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2

Score
3
Suggestive Evidence Criteria 3.1
Autism Reports / Total Reports
3 / 8
Rare Variants / Common Variants
4 / 6
Aliases
ST8SIA2, UNQ3057,  HsT19690,  SIAT8B,  ST8SIA-II,  STX
Associated Syndromes
-
Genetic Category
Rare Single Gene Mutation, Genetic Association
Chromosome Band
15q26.1
Associated Disorders
SCZ, EPS, EP
Relevance to Autism

To identify common risk variation, the Autism Genome Project (AGP) Consortium genotyped 1558 rigorously defined ASD families for 1 million single-nucleotide polymorphisms (SNPs) and analyzed these SNP genotypes for association with ASD. Exploratory analyses examining specific sub-groups of the AGP discovery cohort and a smaller replication cohort from AGRE identified two SNPs within the ST8SIA2 gene with strong association signals for the verbal sub-group (Anney et al., 2010).

Molecular Function

The protein encoded by this gene is a type II membrane protein that is thought to catalyze the transfer of sialic acid from CMP-sialic acid to N-linked oligosaccharides and glycoproteins. The encoded protein may be found in the Golgi apparatus and may be involved in the production of polysialic acid, a modulator of the adhesive properties of neural cell adhesion molecule (NCAM1). This protein is a member of glycosyltransferase family 29.

Reports related to ST8SIA2 (8 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Support Association between polymorphisms in the promoter region of the sialyltransferase 8B (SIAT8B) gene and schizophrenia. Arai M , et al. (2005) No -
2 Support Positive association between SIAT8B and schizophrenia in the Chinese Han population. Tao R , et al. (2006) No -
3 Primary A genome-wide scan for common alleles affecting risk for autism. Anney R , et al. (2010) Yes -
4 Support Identification of sialyltransferase 8B as a generalized susceptibility gene for psychotic and mood disorders on chromosome 15q25-26. McAuley EZ , et al. (2012) No SCZ
5 Support Characterization of a 520 kb deletion on chromosome 15q26.1 including ST8SIA2 in a patient with behavioral disturbance, autism spectrum disorder, a... Kamien B , et al. (2013) Yes Epilepsy
6 Support Effects of intronic single nucleotide polymorphisms (iSNPs) of a polysialyltransferase, ST8SIA2 gene found in psychiatric disorders on its gene pro... Hane M , et al. (2016) No -
7 Support Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior. Doan RN , et al. (2016) Yes -
8 Recent Recommendation Differential effect of disease-associated ST8SIA2 haplotype on cerebral white matter diffusion properties in schizophrenia and healthy controls. Fullerton JM , et al. (2018) No -
Rare Variants   (4)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
A>G - intergenic_variant - - Unknown 27667684 Doan RN , et al. (2016)
T>C - intergenic_variant - - Unknown 27667684 Doan RN , et al. (2016)
delT - intergenic_variant - - Unknown 27667684 Doan RN , et al. (2016)
- - copy_number_loss Unknown Not maternal Multi-generational 24357335 Kamien B , et al. (2013)
Common Variants   (6)
Status Allele Change Residue Change Variant Type Inheritance Pattern Paternal Transmission Family Type PubMed ID Author, Year
- G/A upstream_gene_variant - - - 22693595 McAuley EZ , et al. (2012)
c.161+1988A>C;c.99-2148A>C C/A intron_variant - - - 22693595 McAuley EZ , et al. (2012)
c.99-6453T>G;c.99-10651T>G C/A intron_variant - - - 22693595 McAuley EZ , et al. (2012)
c.548+1882A>G;c.485+1882A>G G/A intron_variant - - - 22693595 McAuley EZ , et al. (2012)
c.549-738A>G;c.486-738A>G Minor allele G intron_variant - - - 20663923 Anney R , et al. (2010)
c.842+1488C>T;c.779+1488C>T Minor allele A intron_variant - - - 20663923 Anney R , et al. (2010)
CNVs associated with ST8SIA2(1 CNVs)
15q26.1 25 Deletion-Duplication 42  /  99
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