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

Gene ID: 84620, updated on 2-Nov-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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See ST6GAL2 in Genome Data Viewer
Location:
2q12.3
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (106801600..106887277, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (107263027..107350150, complement)
RS_2024_09 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

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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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)

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
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
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_2024_08

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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