ST8SIA2 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ST8SIA2provided by HGNC
Official Full Name: ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2provided by HGNC
Primary source: HGNC:HGNC:10870
See related: Ensembl:ENSG00000140557 MIM:602546; AllianceGenome:HGNC:10870
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: STX; SIAT8B; SIAT8-B; HsT19690; ST8SiaII; ST8SIA-II
Summary: 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. [provided by RefSeq, Jul 2008]
Expression: Biased expression in heart (RPKM 1.6), brain (RPKM 0.9) and 4 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q26.1

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (92393881..92468728)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (90156330..90231154)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (92937111..93011958)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Identification of a buried beta-strand as a novel disease-related motif in the human polysialyltransferases.
Title: Identification of a buried β-strand as a novel disease-related motif in the human polysialyltransferases.
A cancer-unique glycan: de-N-acetyl polysialic acid (dPSA) linked to cell surface nucleolin depends on re-expression of the fetal polysialyltransferase ST8SIA2 gene.
Title: A cancer-unique glycan: de-N-acetyl polysialic acid (dPSA) linked to cell surface nucleolin depends on re-expression of the fetal polysialyltransferase ST8SIA2 gene.
High ST8SIA2 expression is associated with lung cancer Invasion.
Title: Characterization of Distinct Populations of Carcinoma-Associated Fibroblasts from Non-Small Cell Lung Carcinoma Reveals a Role for ST8SIA2 in Cancer Cell Invasion.
8 SNPs of ST8SIA2 and 2 SNPs of NCAM1 are associated with seasonality in mood changes and circadian preference
Title: Effects of genetic variants of ST8SIA2 and NCAM1 genes on seasonal mood changes and circadian preference in the general population.
The ST8SIA2 risk haplotype copy number did not show any differential effects on white matter in schizophrenia.
Title: Differential effect of disease-associated ST8SIA2 haplotype on cerebral white matter diffusion properties in schizophrenia and healthy controls.
Different properties of polysialic acids synthesized by the polysialyltransferases ST8SIA2 and ST8SIA4 have been described.
Title: Different properties of polysialic acids synthesized by the polysialyltransferases ST8SIA2 and ST8SIA4.
impairment of the regulated expression of ST8SIA2 and the resulting downstream effects on gene products by these two intronic single nucleotide polymorphism contribute to the development of these psychiatric disorders.
Title: Effects of intronic single nucleotide polymorphisms (iSNPs) of a polysialyltransferase, ST8SIA2 gene found in psychiatric disorders on its gene products.
ST8SiaII role in the invasiveness and metastasis of small cell lung cancer cells
Title: Effects of the regulation of polysialyltransferase ST8SiaII on the invasiveness and metastasis of small cell lung cancer cells.
the relationships between psychiatric disorders and polySia and/or ST8SIA2
Title: Relationship between ST8SIA2, polysialic acid and its binding molecules, and psychiatric disorders.
Data indicate a possible role of STX polysialyltransferase (ST8SIA2) in the common susceptibility of schizophrenia and bipolar I disorder (BD-I).
Title: Association between ST8SIA2 and the Risk of Schizophrenia and Bipolar I Disorder across Diagnostic Boundaries.

Submit: New GeneRIF Correction See all GeneRIFs (25)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of bipolar I disorder in the Han Chinese population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of smoking behaviours among Bangladeshi adults. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide diet-gene interaction analyses for risk of colorectal cancer. EBI GWAS Catalog EBI GWAS CatalogPubMed
Integrated Genome-wide Association, Coexpression Network, and Expression Single Nucleotide Polymorphism Analysis Identifies Novel Pathway in Allergic Rhinitis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Weight loss after gastric bypass is associated with a variant at 15q26.1. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:481826

STS-L29556 (e-PCR)
- UniSTS:73508

RH47406 (e-PCR)
- UniSTS:62550

RH120892 (e-PCR)
- UniSTS:133726

RH118884 (e-PCR)
- UniSTS:138865

WI-15667 (e-PCR)
- UniSTS:24985

D1Bda26 (e-PCR)
- UniSTS:239773

RH15709 (e-PCR)
- UniSTS:28832

FB24D6 (e-PCR)
- UniSTS:25303

A008W12 (e-PCR)
- UniSTS:62690

G30955 (e-PCR)
- UniSTS:36076

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	TAS Traceable Author Statement more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables sialic acid binding	IC Inferred by Curator more info	PubMed

Process	Evidence Code	Pubs
involved_in N-glycan processing	IBA Inferred from Biological aspect of Ancestor more info
involved_in N-glycan processing	IDA Inferred from Direct Assay more info	PubMed
involved_in carbohydrate metabolic process	TAS Traceable Author Statement more info	PubMed
involved_in ganglioside biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in nervous system development	TAS Traceable Author Statement more info	PubMed
involved_in neuron projection extension	IEA Inferred from Electronic Annotation more info
involved_in oligosaccharide metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in oligosaccharide metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of neuron apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of synapse assembly	IEA Inferred from Electronic Annotation more info
involved_in protein glycosylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein glycosylation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein glycosylation	IEA Inferred from Electronic Annotation more info
involved_in protein modification process	TAS Traceable Author Statement more info	PubMed
involved_in response to cocaine	IEA Inferred from Electronic Annotation more info
involved_in sialylation	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi membrane	TAS Traceable Author Statement more info
located_in early endosome	IEA Inferred from Electronic Annotation more info
located_in extracellular region	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in recycling endosome	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: alpha-2,8-sialyltransferase 8B

Names: ST8 alpha-N-acetylneuraminate alpha-2,8-sialyltransferase 2; alpha-2,8-sialyltransferase 8B 1; sialyltransferase 8 (alpha-2, 8-sialytransferase) B; sialyltransferase 8B; sialyltransferase St8Sia II; sialyltransferase X

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001330416.2 → NP_001317345.1 alpha-2,8-sialyltransferase 8B isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AC090985, AC116162, AK313924, BC096205, BX537981, DR000431

Consensus CDS

CCDS81919.1

UniProtKB/TrEMBL

C6G488, Q4VAY9

Related

ENSP00000437382.1, ENST00000539113.5
NM_006011.4 → NP_006002.1 alpha-2,8-sialyltransferase 8B isoform 1 precursor

See identical proteins and their annotated locations for NP_006002.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AC090985, AC116162, AW163487, BC069584

Consensus CDS

CCDS10372.1

UniProtKB/Swiss-Prot

Q4VAZ0, Q92186, Q92470, Q92746

UniProtKB/TrEMBL

B2R9U8, Q4VAZ2

Related

ENSP00000268164.3, ENST00000268164.8

Conserved Domains (1) summary

pfam00777
Location:109 → 368

Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)