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

    Gene ID: 8128, updated on 3-Dec-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
    NEW
    Try the new Gene table
    Try the new Transcript table

    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)

    NEW Try the new Transcript table

    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

      UniProtKB/TrEMBL
      Q4VAZ2