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    ST6GALNAC2 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 [ Homo sapiens (human) ]

    Gene ID: 10610, updated on 28-Oct-2024

    Summary

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    Official Symbol
    ST6GALNAC2provided by HGNC
    Official Full Name
    ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 2provided by HGNC
    Primary source
    HGNC:HGNC:10867
    See related
    Ensembl:ENSG00000070731 MIM:610137; AllianceGenome:HGNC:10867
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    STHM; SIAT7; SAITL1; SIAT7B; SIATL1; ST6GalNAII
    Summary
    ST6GALNAC2 belongs to a family of sialyltransferases that add sialic acids to the nonreducing ends of glycoconjugates. At the cell surface, these modifications have roles in cell-cell and cell-substrate interactions, bacterial adhesion, and protein targeting (Samyn-Petit et al., 2000 [PubMed 10742600]).[supplied by OMIM, Mar 2008]
    Expression
    Broad expression in testis (RPKM 18.1), skin (RPKM 16.6) and 18 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ST6GALNAC2 in Genome Data Viewer
    Location:
    17q25.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (76565377..76585860, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (77462123..77482592, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (74561459..74581942, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA host gene 16 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:74562840-74563340 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:74563341-74563841 Neighboring gene small nucleolar RNA, C/D box 1B Neighboring gene small nucleolar RNA, C/D box 1A Neighboring gene testis-specific serine/proline-rich protein Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74565599-74566100 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9022 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74582247-74582928 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74582929-74583609 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:74597314-74598513 Neighboring gene NANOG hESC enhancer GRCh37_chr17:74602073-74602593 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:74607181-74607687 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:74608196-74608702 Neighboring gene ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74623019-74623520 Neighboring gene prothymosin alpha pseudogene 13

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Identification and characterization of CMP-NeuAc:GalNAc-IgA1 alpha2,6-sialyltransferase in IgA1-producing cells. Raska M, et al. J Mol Biol, 2007 May 25. PMID 17418236, Free PMC Article
    2. ST6GalNAcII mediates tumor invasion through PI3K/Akt/NF-κB signaling pathway in follicular thyroid carcinoma. Miao X, et al. Oncol Rep, 2016 Apr. PMID 26820593
    3. ST6GalNAcII mediates the invasive properties of breast carcinoma through PI3K/Akt/NF-κB signaling pathway. Ren D, et al. IUBMB Life, 2014 Apr. PMID 24756995
    4. Competition between core-2 GlcNAc-transferase and ST6GalNAc-transferase regulates the synthesis of the leukocyte selectin ligand on human P-selectin glycoprotein ligand-1. Lo CY, et al. J Biol Chem, 2013 May 17. PMID 23548905, Free PMC Article
    5. Variants of the ST6GALNAC2 promoter influence transcriptional activity and contribute to genetic susceptibility to IgA nephropathy. Li GS, et al. Hum Mutat, 2007 Oct. PMID 17480010

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MicroRNAs miR-135b and miR-182 may reverse the resistance to 5-fluorouracil (5-FU) in colorectal cancer (CRC) cells by targeting ST6GALNAC2 via PI3K/AKT pathway, which render potential chemotherapy targets for the treatment of CRC.
      Title: Upregulation of microRNA-135b and microRNA-182 promotes chemoresistance of colorectal cancer by targeting ST6GALNAC2 via PI3K/AKT pathway.
    2. miR-182/-135b/ST6GALNAC2/PI3K/AKT axis could function as regulator of progression in colorectal cancer
      Title: miR-182 and miR-135b Mediate the Tumorigenesis and Invasiveness of Colorectal Cancer Cells via Targeting ST6GALNAC2 and PI3K/AKT Pathway.
    3. Study provides evidence that mutations in B3GNT2, B4GALT2, and ST6GALNAC2 underlie aberrant glycosylation, and contribute to the pathogenesis of molecular subsets of colon and other gastrointestinal malignancies.
      Title: Biochemical and functional characterization of glycosylation-associated mutational landscapes in colon cancer.
    4. Results provide evidence that ST6GalNAcII activated the invasion in follicular thyroid cancer cells through regulating the activity of PI3K/Akt pathway.
      Title: ST6GalNAcII mediates tumor invasion through PI3K/Akt/NF-κB signaling pathway in follicular thyroid carcinoma.
    5. High expression level of ST6GalNAcII is associated with invasive phenotype of breast cancer.
      Title: ST6GalNAcII mediates the invasive properties of breast carcinoma through PI3K/Akt/NF-κB signaling pathway.
    6. Results identified the sialyltransferase ST6GalNAc2 as a novel breast cancer metastasis suppressor.
      Title: An in vivo functional screen identifies ST6GalNAc2 sialyltransferase as a breast cancer metastasis suppressor.
    7. Il-6 and Il-4 reduced galactosylation of the O-glycan substrate directly via decreased expression of the galactosyltransferase C1GalT1 and, indirectly, via increased expression of the sialyltransferase ST6GalNAc-II
      Title: Cytokines alter IgA1 O-glycosylation by dysregulating C1GalT1 and ST6GalNAc-II enzymes.
    8. ST6GalNAc2 is a novel enzyme that regulates leukocyte adhesion under fluid shear
      Title: Competition between core-2 GlcNAc-transferase and ST6GalNAc-transferase regulates the synthesis of the leukocyte selectin ligand on human P-selectin glycoprotein ligand-1.
    9. potential genetic interactions of C1GALT1 and ST6GALNAC2 variants influence IgA1 O-glycosylation, disease predisposition, and disease severity, and may contribute to the polygenic nature of IgA nephropathy
      Title: Interaction between variants of two glycosyltransferase genes in IgA nephropathy.
    10. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
      Title: Interaction between variants of two glycosyltransferase genes in IgA nephropathy.
    Submit: New GeneRIF Correction See all GeneRIFs (14)

    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

    • FLJ45660

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity TAS
    Traceable Author Statement
    more info
    		  
    enables sialyltransferase activity TAS
    Traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    involved_in O-glycan processing TAS
    Traceable Author Statement
    more info
    		  
    involved_in protein O-linked glycosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein O-linked glycosylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein glycosylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein sialylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in viral protein processing TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2
    Names
    (alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide B
    (alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase
    SIAT7-B
    ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2
    ST6 GalNAc alpha-2,6-sialyltransferase 2
    ST6GALNAC2, alpha-2,6-sialyltransferase 2
    ST6GalNAc II
    ST6GalNAcII
    galNAc alpha-2,6-sialyltransferase II
    sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide B
    sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) B
    sialyltransferase 7B
    sialyltransferase-like 1
    NP_006447.2

    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_006456.3 → NP_006447.2  alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2

      See identical proteins and their annotated locations for NP_006447.2

      Status: VALIDATED

      Source sequence(s)
      AC015802, BT019972
      Consensus CDS
      CCDS11747.1
      UniProtKB/Swiss-Prot
      Q12971, Q9UJ37
      Related
      ENSP00000225276.4, ENST00000225276.10
      Conserved Domains (1) summary
      pfam00777
      Location:111 → 373
      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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      76565377..76585860 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      77462123..77482592 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UJ37.1 GenPept UniProtKB/Swiss-Prot:Q9UJ37

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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