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

Gene ID: 124872, updated on 5-Mar-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
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Genomic context

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Location:
17q21.32
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (49120344..49176840)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (49983750..50039929)
105.20220307 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
  • 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. N-Glycan on the Non-Consensus N-X-C Glycosylation Site Impacts Activity, Stability, and Localization of the Sd(a) Synthase B4GALNT2. Cogez V, et al. Int J Mol Sci, 2023 Feb 18. PMID 36835549, Free PMC Article
  2. Glycoproteomic and Phenotypic Elucidation of B4GALNT2 Expression Variants in the SID Histo-Blood Group System. Stenfelt L, et al. Int J Mol Sci, 2022 Apr 1. PMID 35409292, Free PMC Article
  3. B4GALNT2 Controls Sd(a) and SLe(x) Antigen Biosynthesis in Healthy and Cancer Human Colon. Groux-Degroote S, et al. Chembiochem, 2021 Dec 10. PMID 34397142, Free PMC Article
  4. 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. Martin PT, et al. PLoS One, 2021. PMID 33770101, Free PMC Article
  5. High Expression of the Sd(a) Synthase B4GALNT2 Associates with Good Prognosis and Attenuates Stemness in Colon Cancer. Pucci M, et al. Cells, 2020 Apr 11. PMID 32290493, Free PMC Article

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_2023_10

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

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