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    B4GALNT2 beta-1,4-N-acetyl-galactosaminyltransferase 2 (SID blood group) [ Homo sapiens (human) ]

    Gene ID: 124872, updated on 28-Oct-2024

    Summary

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    Official Symbol
    B4GALNT2provided by HGNC
    Official Full Name
    beta-1,4-N-acetyl-galactosaminyltransferase 2 (SID blood group)provided by HGNC
    Primary source
    HGNC:HGNC:24136
    See related
    Ensembl:ENSG00000167080 MIM:111730; AllianceGenome:HGNC:24136
    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
    B4GALT; GALGT2
    Summary
    B4GALNT2 catalyzes the last step in the biosynthesis of the human Sd(a) antigen through the addition of an N-acetylgalactosamine residue via a beta-1,4 linkage to a subterminal galactose residue substituted with an alpha-2,3-linked sialic acid. B4GALNT2 also catalyzes the last step in the biosynthesis of the Cad antigen (Montiel et al., 2003 [PubMed 12678917]).[supplied by OMIM, Mar 2008]
    Expression
    Biased expression in colon (RPKM 11.5), kidney (RPKM 5.5) and 4 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See B4GALNT2 in Genome Data Viewer
    Location:
    17q21.32
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (49120344..49176840)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (49983750..50039929)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (47209822..47254202)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene insulin like growth factor 2 mRNA binding protein 1 Neighboring gene RNA, U6 small nuclear 826, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:47126439-47127348 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:47135543-47136044 Neighboring gene NANOG hESC enhancer GRCh37_chr17:47163998-47164523 Neighboring gene B4GALNT2 pseudogene 1 Neighboring gene uncharacterized LOC124904021 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:47202514-47203019 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:47226398-47227388 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:47227389-47228379 Neighboring gene ribosomal protein S10 pseudogene 25 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:47260706-47261206 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12349 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12350 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12351 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:47275189-47275688 Neighboring gene tRNA-Gln (anticodon TTG) 1-1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12352 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:47287312-47287988 Neighboring gene G protein subunit gamma transducin 2

    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. Vascular delivery of rAAVrh74.MCK.GALGT2 to the gastrocnemius muscle of the rhesus macaque stimulates the expression of dystrophin and laminin α2 surrogates. Chicoine LG, et al. Mol Ther, 2014 Apr. PMID 24145553, Free PMC Article
    2. Identification of a alpha-NeuAc-(2----3)-beta-D-galactopyranosyl N-acetyl-beta-D-galactosaminyltransferase in human kidney. Piller F, et al. Carbohydr Res, 1986 Jun 1. PMID 2425965
    3. Detection of N-acetylgalactosaminyltransferase mRNA which determines expression of Sda blood group carbohydrate structure in human gastrointestinal mucosa and cancer. Dohi T, et al. Int J Cancer, 1996 Sep 4. PMID 8782649
    4. Ectopic localizations of Golgi glycosyltransferases. Berger EG. Glycobiology, 2002 Feb. PMID 11886838
    5. Expression of the human Sd(a) beta-1,4-N-acetylgalactosaminyltransferase II gene is dependent on the promoter methylation status. Wang HR, et al. Glycobiology, 2008 Jan. PMID 17965433

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. N-Glycan on the Non-Consensus N-X-C Glycosylation Site Impacts Activity, Stability, and Localization of the Sd[a] Synthase B4GALNT2.
      Title: N-Glycan on the Non-Consensus N-X-C Glycosylation Site Impacts Activity, Stability, and Localization of the Sd(a) Synthase B4GALNT2.
    2. Glycoproteomic and Phenotypic Elucidation of B4GALNT2 Expression Variants in the SID Histo-Blood Group System.
      Title: Glycoproteomic and Phenotypic Elucidation of B4GALNT2 Expression Variants in the SID Histo-Blood Group System.
    3. B4GALNT2 Controls Sd(a) and SLe(x) Antigen Biosynthesis in Healthy and Cancer Human Colon.
      Title: B4GALNT2 Controls Sd(a) and SLe(x) Antigen Biosynthesis in Healthy and Cancer Human Colon.
    4. Analysis of the proximal promoter of the human colon-specific B4GALNT2 (Sd(a) synthase) gene: B4GALNT2 is transcriptionally regulated by ETS1.
      Title: Analysis of the proximal promoter of the human colon-specific B4GALNT2 (Sd(a) synthase) gene: B4GALNT2 is transcriptionally regulated by ETS1.
    5. Short-term treatment of golden retriever muscular dystrophy (GRMD) dogs with rAAVrh74.MHCK7.GALGT2 induces muscle glycosylation and utrophin expression but has no significant effect on muscle strength.
      Title: Short-term treatment of golden retriever muscular dystrophy (GRMD) dogs with rAAVrh74.MHCK7.GALGT2 induces muscle glycosylation and utrophin expression but has no significant effect on muscle strength.
    6. The role of the blood group-related glycosyltransferases FUT2 and B4GALNT2 in susceptibility to infectious disease.
      Title: The role of the blood group-related glycosyltransferases FUT2 and B4GALNT2 in susceptibility to infectious disease.
    7. Glycosyltransferase B4GALNT2 as a Predictor of Good Prognosis in Colon Cancer: Lessons from Databases.
      Title: Glycosyltransferase B4GALNT2 as a Predictor of Good Prognosis in Colon Cancer: Lessons from Databases.
    8. High Expression of the Sd(a) Synthase B4GALNT2 Associates with Good Prognosis and Attenuates Stemness in Colon Cancer.
      Title: High Expression of the Sd(a) Synthase B4GALNT2 Associates with Good Prognosis and Attenuates Stemness in Colon Cancer.
    9. Results found that demonstrate that EGFR ligands can activate the human GALGT2 promoter. Deletion analysis of the GALGT2 promoter identified a 45-bp region containing a TFAP4-binding site that was required for soluble HB-EGF activation.
      Title: Soluble Heparin Binding Epidermal Growth Factor-Like Growth Factor Is a Regulator of GALGT2 Expression and GALGT2-Dependent Muscle and Neuromuscular Phenotypes.
    10. B4GALNT2 overexpression prevented the infection of every avian influenza virus strain tested, including the H5, H9, and H7 subtypes, which have previously caused disease in humans.
      Title: A CRISPR Activation Screen Identifies a Pan-avian Influenza Virus Inhibitory Host Factor.
    Submit: New GeneRIF Correction See all GeneRIFs (16)

    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

    Associated conditions

    Description Tests
    BLOOD GROUP, SID SYSTEM
    MedGen: C5574996 OMIM: 615018 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
    EBI GWAS Catalog

    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

    • MGC142235, MGC142237

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables acetylgalactosaminyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables acetylgalactosaminyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables acetylgalactosaminyltransferase activity TAS
    Traceable Author Statement
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in UDP-N-acetylgalactosamine metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in UDP-N-acetylgalactosamine metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in UDP-N-acetylglucosamine metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in lipid glycosylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of cell-cell adhesion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in oligosaccharide biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in protein N-linked glycosylation via asparagine TAS
    Traceable Author Statement
    more info
    		  
    involved_in protein import IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in skeletal muscle fiber differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in skeletal muscle tissue regeneration IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    beta-1,4 N-acetylgalactosaminyltransferase 2
    Names
    UDP-GalNAc:Neu5Aca2-3Galb-R b1,4-N-acetylgalactosaminyltransferase
    UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase
    beta 1,4 N-acetylgalactosaminyltransferase/betal,4 GalNAcT/Sda-GalNAcT
    beta-1,4-N-acetyl-galactosaminyl transferase 2
    beta-4-N-acetylgalactosaminyltransferase
    sd(a) beta-1,4-GalNAc transferase
    sda beta-1,4-GalNAc transferase
    NP_001152859.1
    NP_001152860.1
    NP_703147.2
    XP_011522616.1
    XP_016879662.1
    XP_054170999.1
    XP_054171000.1

    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.

    mRNA and Protein(s)

    1. NM_001159387.2 → NP_001152859.1  beta-1,4 N-acetylgalactosaminyltransferase 2 isoform b

      See identical proteins and their annotated locations for NP_001152859.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (b) has a distinct N-terminus and is shorter than isoform a.
      Source sequence(s)
      AC069454, AJ517771, AK302876
      Consensus CDS
      CCDS54139.1
      UniProtKB/Swiss-Prot
      Q8NHY0
      Related
      ENSP00000377022.3, ENST00000393354.7
      Conserved Domains (2) summary
      COG0463
      Location:262 → 363
      WcaA; Glycosyltransferase involved in cell wall bisynthesis [Cell wall/membrane/envelope biogenesis]
      pfam00535
      Location:264 → 370
      Glycos_transf_2; Glycosyl transferase family 2

    2. NM_001159388.2 → NP_001152860.1  beta-1,4 N-acetylgalactosaminyltransferase 2 isoform c

      See identical proteins and their annotated locations for NP_001152860.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (c) has a shorter N-terminus compared to isoform a.
      Source sequence(s)
      AC069454, AJ517771, AK302876
      Consensus CDS
      CCDS54140.1
      UniProtKB/Swiss-Prot
      Q8NHY0
      Related
      ENSP00000425510.1, ENST00000504681.5
      Conserved Domains (2) summary
      COG0463
      Location:236 → 337
      WcaA; Glycosyltransferase involved in cell wall bisynthesis [Cell wall/membrane/envelope biogenesis]
      pfam00535
      Location:238 → 344
      Glycos_transf_2; Glycosyl transferase family 2

    3. NM_153446.3 → NP_703147.2  beta-1,4 N-acetylgalactosaminyltransferase 2 isoform a

      See identical proteins and their annotated locations for NP_703147.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AC069454, AJ517770, AJ517771, AK302876, BC113675
      Consensus CDS
      CCDS11544.1
      UniProtKB/Swiss-Prot
      B4DZE4, Q14CP1, Q86Y40, Q8NHY0
      Related
      ENSP00000300404.2, ENST00000300404.2
      Conserved Domains (2) summary
      COG0463
      Location:322 → 423
      WcaA; Glycosyltransferase involved in cell wall bisynthesis [Cell wall/membrane/envelope biogenesis]
      pfam00535
      Location:324 → 430
      Glycos_transf_2; Glycosyl transferase family 2

    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
      49120344..49176840
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017024173.2 → XP_016879662.1  beta-1,4 N-acetylgalactosaminyltransferase 2 isoform X1

      UniProtKB/Swiss-Prot
      Q8NHY0
      Conserved Domains (2) summary
      COG0463
      Location:236 → 337
      WcaA; Glycosyltransferase involved in cell wall bisynthesis [Cell wall/membrane/envelope biogenesis]
      pfam00535
      Location:238 → 344
      Glycos_transf_2; Glycosyl transferase family 2

    2. XM_011524314.3 → XP_011522616.1  beta-1,4 N-acetylgalactosaminyltransferase 2 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      49983750..50039929
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054315024.1 → XP_054170999.1  beta-1,4 N-acetylgalactosaminyltransferase 2 isoform X1

    2. XM_054315025.1 → XP_054171000.1  beta-1,4 N-acetylgalactosaminyltransferase 2 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NHY0.2 GenPept UniProtKB/Swiss-Prot:Q8NHY0

    Gene LinkOut

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

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