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

Gene ID: 8128, updated on 27-Nov-2024

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
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Genomic context

See ST8SIA2 in Genome Data Viewer
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_000015.10Genomic Context describing neighboring genes Neighboring gene double homeobox A pseudogene 6 Neighboring gene nucleophosmin 1 pseudogene 5 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr15:92848478-92848978 Neighboring gene uncharacterized LOC124903615 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr15:92972458-92973657 Neighboring gene enolase 1 pseudogene 2 Neighboring gene uncharacterized LOC104613533 Neighboring gene chromosome 15 putative open reading frame 32

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC116854, MGC116857

Gene Ontology Provided by GOA

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

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)

  1. NM_001330416.2NP_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
  2. NM_006011.4NP_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:109368
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    92393881..92468728
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017022642.2XP_016878131.1  alpha-2,8-sialyltransferase 8B isoform X1

    UniProtKB/TrEMBL
    Q4VAZ2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    90156330..90231154
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054378933.1XP_054234908.1  alpha-2,8-sialyltransferase 8B isoform X1