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

Gene ID: 8128, updated on 9-Jul-2018

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; Vega:OTTHUMG00000149843
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

Genomic context

See ST8SIA2 in Genome Data Viewer
Location:
15q26.1
Exon count:
7
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 15 NC_000015.10 (92393887..92468728)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (92937140..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 enolase 1 pseudogene 2 Neighboring gene uncharacterized LOC104613533 Neighboring gene chromosome 15 open reading frame 32 Neighboring gene long intergenic non-protein coding RNA 930

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Asparagine N-linked glycosylation, organism-specific biosystem (from REACTOME)
    Asparagine N-linked glycosylation, organism-specific biosystemN-linked glycosylation is the most important form of post-translational modification for proteins synthesized and folded in the Endoplasmic Reticulum (Stanley et al. 2009). An early study in 1999 rev...
  • Axon guidance, organism-specific biosystem (from REACTOME)
    Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
  • Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein, organism-specific biosystem (from REACTOME)
    Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein, organism-specific biosystemN-linked glycosylation commences with the 14-step synthesis of a dolichol lipid-linked oligosaccharide (LLO) consisting of 14 sugars (2 core GlcNAcs, 9 mannoses and 3 terminal GlcNAcs). This pathway ...
  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • N-Glycan antennae elongation, organism-specific biosystem (from REACTOME)
    N-Glycan antennae elongation, organism-specific biosystemN-glycans are further modified after the commitment to Complex or Hybrid N-glycans. The exact structure of the network of metabolic reactions involved is complex and not yet validated experimentally....
  • N-glycan antennae elongation in the medial/trans-Golgi, organism-specific biosystem (from REACTOME)
    N-glycan antennae elongation in the medial/trans-Golgi, organism-specific biosystemIn the latter compartments of the distal Golgi the N-Glycan is further modified, leading to the wide range of N-Glycans observed in multicellular organisms. The first step of N-Glycan elongation in t...
  • NCAM signaling for neurite out-growth, organism-specific biosystem (from REACTOME)
    NCAM signaling for neurite out-growth, organism-specific biosystemThe neural cell adhesion molecule, NCAM, is a member of the immunoglobulin (Ig) superfamily and is involved in a variety of cellular processes of importance for the formation and maintenance of the n...
  • NCAM1 interactions, organism-specific biosystem (from REACTOME)
    NCAM1 interactions, organism-specific biosystemThe neural cell adhesion molecule, NCAM1 is generally considered as a cell adhesion mediator, but it is also considered to be a signal transducing receptor molecule. NCAM1 is involved in multiple cis...
  • Post-translational protein modification, organism-specific biosystem (from REACTOME)
    Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
  • Sialic acid metabolism, organism-specific biosystem (from REACTOME)
    Sialic acid metabolism, organism-specific biosystemSialic acids are a family of 9 carbon alpha-keto acids that are usually present in the non reducing terminal of glycoconjuates on the cell surface of eukaryotic cells. These sialylated conjugates pla...
  • Synthesis of substrates in N-glycan biosythesis, organism-specific biosystem (from REACTOME)
    Synthesis of substrates in N-glycan biosythesis, organism-specific biosystemReactions for the synthesis of the small nucleotide-linked sugar substrates that are used in the synthesis of the N-glycan precursor and in the later steps of glycosylation are annotated here.All the...
  • Transport to the Golgi and subsequent modification, organism-specific biosystem (from REACTOME)
    Transport to the Golgi and subsequent modification, organism-specific biosystemAt least two mechanisms of transport of proteins from the ER to the Golgi have been described. One is a general flow requiring no export signals (Wieland et al, 1987; Martinez-Menarguez et al, 1999)....
  • terminal O-glycans residues modification, organism-specific biosystem (from BIOCYC)
    terminal O-glycans residues modification, organism-specific biosystemEnzymatic glycosylation of proteins and lipids is an abundant and important biological process. A great diversity of oligosaccharide structures and types of glycoconjugates is found in nature, and th...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC116854, MGC116857

Gene Ontology Provided by GOA

Process Evidence Code Pubs
N-glycan processing IDA
Inferred from Direct Assay
more info
PubMed 
carbohydrate metabolic process TAS
Traceable Author Statement
more info
PubMed 
cellular protein modification process TAS
Traceable Author Statement
more info
PubMed 
ganglioside biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
nervous system development TAS
Traceable Author Statement
more info
PubMed 
oligosaccharide metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
protein glycosylation IDA
Inferred from Direct Assay
more info
PubMed 
protein glycosylation IEA
Inferred from Electronic Annotation
more info
 
sialylation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi membrane TAS
Traceable Author Statement
more info
 
early endosome IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
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)

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_001330416.1NP_001317345.1  alpha-2,8-sialyltransferase 8B isoform 2 precursor

    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, AK313924, BC096205, BX537981, DR000431
    Consensus CDS
    CCDS81919.1
    UniProtKB/TrEMBL
    B2R9U8, C6G488, Q4VAY9
    Related
    ENSP00000437382.1, ENST00000539113.5
  2. NM_006011.3NP_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, AW163487, BC069584
    Consensus CDS
    CCDS10372.1
    UniProtKB/Swiss-Prot
    Q92186
    UniProtKB/TrEMBL
    B2R9U8
    Related
    ENSP00000268164.3, OTTHUMP00000194774, ENST00000268164.7, OTTHUMT00000313526
    Conserved Domains (1) summary
    pfam00777
    Location:109368
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p12 Primary Assembly

    Range
    92393887..92468728
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

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