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    ST6GAL2 ST6 beta-galactoside alpha-2,6-sialyltransferase 2 [ Homo sapiens (human) ]

    Gene ID: 84620, updated on 5-Mar-2024

    Summary

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    Official Symbol
    ST6GAL2provided by HGNC
    Official Full Name
    ST6 beta-galactoside alpha-2,6-sialyltransferase 2provided by HGNC
    Primary source
    HGNC:HGNC:10861
    See related
    Ensembl:ENSG00000144057 MIM:608472; AllianceGenome:HGNC:10861
    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
    SIAT2; ST6GalII
    Summary
    This locus encodes a sialyltransferase. The encoded type II transmembrane protein catalyzes the transfer of sialic acid from CMP to an oligosaccharide substrate. Polymorphisms at this locus may be associated with variations in risperidone response in schizophrenic patients. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]
    Expression
    Biased expression in thyroid (RPKM 11.0), brain (RPKM 3.9) and 3 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    2q12.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (106801600..106887277, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (107263027..107350150, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (107418056..107503565, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724744 Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 12 Neighboring gene NANOG hESC enhancer GRCh37_chr2:107350468-107351057 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:107363599-107364798 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:107370890-107371106 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:107378467-107378978 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr2:107468275-107468880 Neighboring gene uncharacterized LOC124907864 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:107535665-107536199 Neighboring gene protein phosphatase 1 regulatory inhibitor subunit 2 pseudogene 5 Neighboring gene uncharacterized LOC105373535

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Transcriptional regulation of the human ST6GAL2 gene in cerebral cortex and neuronal cells. Lehoux S, et al. Glycoconj J, 2010 Jan. PMID 19768537
    2. Role of ST6GAL1 and ST6GAL2 in subversion of cellular signaling during enteroaggregative Escherichia coli infection of human intestinal epithelial cell lines. Chandel S, et al. Appl Microbiol Biotechnol, 2023 Feb. PMID 36646912, Free PMC Article
    3. Identification and functional expression of a second human beta-galactoside alpha2,6-sialyltransferase, ST6Gal II. Krzewinski-Recchi MA, et al. Eur J Biochem, 2003 Mar. PMID 12603328
    4. Characterization of the second type of human beta-galactoside alpha 2,6-sialyltransferase (ST6Gal II), which sialylates Galbeta 1,4GlcNAc structures on oligosaccharides preferentially. Genomic analysis of human sialyltransferase genes. Takashima S, et al. J Biol Chem, 2002 Nov 29. PMID 12235148
    5. Identification of novel candidate genes for treatment response to risperidone and susceptibility for schizophrenia: integrated analysis among pharmacogenomics, mouse expression, and genetic case-control association approaches. Ikeda M, et al. Biol Psychiatry, 2010 Feb 1. PMID 19850283

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Role of ST6GAL1 and ST6GAL2 in subversion of cellular signaling during enteroaggregative Escherichia coli infection of human intestinal epithelial cell lines.
      Title: Role of ST6GAL1 and ST6GAL2 in subversion of cellular signaling during enteroaggregative Escherichia coli infection of human intestinal epithelial cell lines.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    3. This suggests that ST6GAL2 transcription could be potentially activated for specific neuronal functions.
      Title: Transcriptional regulation of the human ST6GAL2 gene in cerebral cortex and neuronal cells.
    4. Observational study and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Identification of novel candidate genes for treatment response to risperidone and susceptibility for schizophrenia: integrated analysis among pharmacogenomics, mouse expression, and genetic case-control association approaches.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
    6. identification and expression and localization in brain
      Title: Identification and functional expression of a second human beta-galactoside alpha2,6-sialyltransferase, ST6Gal II.
    Submit: New GeneRIF Correction

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ30711, FLJ37730, FLJ38334, KIAA1877

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables beta-galactoside alpha-2,6-sialyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables beta-galactoside alpha-2,6-sialyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables beta-galactoside alpha-2,6-sialyltransferase activity TAS
    Traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    involved_in oligosaccharide metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein glycosylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in sialylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi cisterna membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    beta-galactoside alpha-2,6-sialyltransferase 2
    Names
    CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,6-sialyltransferase 2
    ST6 beta-galactosamide alpha-2,6-sialyltranferase 2
    alpha 2,6-ST 2
    beta-galactoside alpha-2,6-sialyltransferase II
    sialyltransferase 2 (monosialoganglioside sialyltransferase)
    NP_001135823.1
    NP_001135824.1
    NP_001309291.1
    NP_115917.1
    XP_006712865.1
    XP_011510301.1
    XP_011510302.1
    XP_011510303.1
    XP_016860599.1
    XP_047301982.1
    XP_047301983.1
    XP_047301984.1
    XP_047301985.1
    XP_047301987.1
    XP_047301989.1
    XP_054200180.1
    XP_054200181.1
    XP_054200182.1
    XP_054200183.1
    XP_054200184.1
    XP_054200185.1
    XP_054200186.1
    XP_054200187.1
    XP_054200188.1
    XP_054200189.1

    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.

    Genomic

    1. NG_031986.1 RefSeqGene

      Range
      5941..90508
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001142351.2 → NP_001135823.1  beta-galactoside alpha-2,6-sialyltransferase 2 isoform a

      See identical proteins and their annotated locations for NP_001135823.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (a).
      Source sequence(s)
      AB058780, AB059555, AC005040, AC108049, BQ016989, CN365495
      Consensus CDS
      CCDS2073.1
      UniProtKB/Swiss-Prot
      D3DVK3, Q53QP4, Q86Y44, Q8IUG7, Q96HE4, Q96JF0
      Related
      ENSP00000386942.3, ENST00000409382.8
      Conserved Domains (1) summary
      pfam00777
      Location:278 → 511
      Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)

    2. NM_001142352.2 → NP_001135824.1  beta-galactoside alpha-2,6-sialyltransferase 2 isoform b

      See identical proteins and their annotated locations for NP_001135824.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 3' UTR and 3' coding region, compared to variant 1. The resulting isoform (b) has a distinct C-terminus and is shorter than isoform a.
      Source sequence(s)
      AC005040, AK307784, BC008680, DA176100
      Consensus CDS
      CCDS46380.1
      UniProtKB/Swiss-Prot
      Q96JF0
      Related
      ENSP00000387332.3, ENST00000409087.3
      Conserved Domains (1) summary
      pfam00777
      Location:278 → 439
      Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)

    3. NM_001322362.2 → NP_001309291.1  beta-galactoside alpha-2,6-sialyltransferase 2 isoform a

      Status: REVIEWED

      Source sequence(s)
      AC005040, AC016994, AC108049, R61253
      Consensus CDS
      CCDS2073.1
      UniProtKB/Swiss-Prot
      D3DVK3, Q53QP4, Q86Y44, Q8IUG7, Q96HE4, Q96JF0
      Conserved Domains (1) summary
      pfam00777
      Location:278 → 511
      Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)

    4. NM_032528.3 → NP_115917.1  beta-galactoside alpha-2,6-sialyltransferase 2 isoform a

      See identical proteins and their annotated locations for NP_115917.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Both variants 1 and 2 encode the same isoform.
      Source sequence(s)
      AB059555, AC005040, AC108049, BQ016989, CN365495, DA176100
      Consensus CDS
      CCDS2073.1
      UniProtKB/Swiss-Prot
      D3DVK3, Q53QP4, Q86Y44, Q8IUG7, Q96HE4, Q96JF0
      Related
      ENSP00000355273.4, ENST00000361686.8
      Conserved Domains (1) summary
      pfam00777
      Location:278 → 511
      Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)

    RNA

    1. NR_136313.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC005040, AC016994, AC108049, R61253

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      106801600..106887277 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011511999.3 → XP_011510301.1  beta-galactoside alpha-2,6-sialyltransferase 2 isoform X1

      See identical proteins and their annotated locations for XP_011510301.1

      UniProtKB/Swiss-Prot
      D3DVK3, Q53QP4, Q86Y44, Q8IUG7, Q96HE4, Q96JF0
      Conserved Domains (1) summary
      pfam00777
      Location:278 → 511
      Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)

    2. XM_006712802.2 → XP_006712865.1  beta-galactoside alpha-2,6-sialyltransferase 2 isoform X1

      See identical proteins and their annotated locations for XP_006712865.1

      UniProtKB/Swiss-Prot
      D3DVK3, Q53QP4, Q86Y44, Q8IUG7, Q96HE4, Q96JF0
      Conserved Domains (1) summary
      pfam00777
      Location:278 → 511
      Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)

    3. XM_047446027.1 → XP_047301983.1  beta-galactoside alpha-2,6-sialyltransferase 2 isoform X1

      UniProtKB/Swiss-Prot
      D3DVK3, Q53QP4, Q86Y44, Q8IUG7, Q96HE4, Q96JF0

    4. XM_047446026.1 → XP_047301982.1  beta-galactoside alpha-2,6-sialyltransferase 2 isoform X1

      UniProtKB/Swiss-Prot
      D3DVK3, Q53QP4, Q86Y44, Q8IUG7, Q96HE4, Q96JF0

    5. XM_011512001.3 → XP_011510303.1  beta-galactoside alpha-2,6-sialyltransferase 2 isoform X4

      See identical proteins and their annotated locations for XP_011510303.1

      UniProtKB/Swiss-Prot
      Q96JF0
      Conserved Domains (1) summary
      pfam00777
      Location:278 → 439
      Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)

    6. XM_047446033.1 → XP_047301989.1  beta-galactoside alpha-2,6-sialyltransferase 2 isoform X3

    7. XM_047446031.1 → XP_047301987.1  beta-galactoside alpha-2,6-sialyltransferase 2 isoform X3

    8. XM_017005110.2 → XP_016860599.1  beta-galactoside alpha-2,6-sialyltransferase 2 isoform X2

    9. XM_047446029.1 → XP_047301985.1  beta-galactoside alpha-2,6-sialyltransferase 2 isoform X3

    10. XM_011512000.3 → XP_011510302.1  beta-galactoside alpha-2,6-sialyltransferase 2 isoform X3

      Conserved Domains (1) summary
      pfam00777
      Location:278 → 442
      Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)

    11. XM_047446028.1 → XP_047301984.1  beta-galactoside alpha-2,6-sialyltransferase 2 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      107263027..107350150 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054344205.1 → XP_054200180.1  beta-galactoside alpha-2,6-sialyltransferase 2 isoform X1

      UniProtKB/Swiss-Prot
      D3DVK3, Q53QP4, Q86Y44, Q8IUG7, Q96HE4, Q96JF0

    2. XM_054344206.1 → XP_054200181.1  beta-galactoside alpha-2,6-sialyltransferase 2 isoform X1

      UniProtKB/Swiss-Prot
      D3DVK3, Q53QP4, Q86Y44, Q8IUG7, Q96HE4, Q96JF0

    3. XM_054344207.1 → XP_054200182.1  beta-galactoside alpha-2,6-sialyltransferase 2 isoform X1

      UniProtKB/Swiss-Prot
      D3DVK3, Q53QP4, Q86Y44, Q8IUG7, Q96HE4, Q96JF0

    4. XM_054344209.1 → XP_054200184.1  beta-galactoside alpha-2,6-sialyltransferase 2 isoform X4

    5. XM_054344214.1 → XP_054200189.1  beta-galactoside alpha-2,6-sialyltransferase 2 isoform X3

    6. XM_054344211.1 → XP_054200186.1  beta-galactoside alpha-2,6-sialyltransferase 2 isoform X2

    7. XM_054344210.1 → XP_054200185.1  beta-galactoside alpha-2,6-sialyltransferase 2 isoform X2

    8. XM_054344213.1 → XP_054200188.1  beta-galactoside alpha-2,6-sialyltransferase 2 isoform X3

    9. XM_054344212.1 → XP_054200187.1  beta-galactoside alpha-2,6-sialyltransferase 2 isoform X3

    10. XM_054344208.1 → XP_054200183.1  beta-galactoside alpha-2,6-sialyltransferase 2 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96JF0.2 GenPept UniProtKB/Swiss-Prot:Q96JF0

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