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

    Gene ID: 124872, updated on 2-Nov-2024

    Summary

    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
    NEW
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    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    General gene information

    Clone Names

    • MGC142235, MGC142237

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in Golgi membrane  
    located_in membrane PubMed 

    General protein information

    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)

    NEW Try the new Transcript table

    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_001159387.2NP_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:262363
      WcaA; Glycosyltransferase involved in cell wall bisynthesis [Cell wall/membrane/envelope biogenesis]
      pfam00535
      Location:264370
      Glycos_transf_2; Glycosyl transferase family 2
    2. NM_001159388.2NP_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:236337
      WcaA; Glycosyltransferase involved in cell wall bisynthesis [Cell wall/membrane/envelope biogenesis]
      pfam00535
      Location:238344
      Glycos_transf_2; Glycosyl transferase family 2
    3. NM_153446.3NP_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:322423
      WcaA; Glycosyltransferase involved in cell wall bisynthesis [Cell wall/membrane/envelope biogenesis]
      pfam00535
      Location:324430
      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_017024173.2XP_016879662.1  beta-1,4 N-acetylgalactosaminyltransferase 2 isoform X1

      UniProtKB/Swiss-Prot
      Q8NHY0
      Conserved Domains (2) summary
      COG0463
      Location:236337
      WcaA; Glycosyltransferase involved in cell wall bisynthesis [Cell wall/membrane/envelope biogenesis]
      pfam00535
      Location:238344
      Glycos_transf_2; Glycosyl transferase family 2
    2. XM_011524314.3XP_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_054315024.1XP_054170999.1  beta-1,4 N-acetylgalactosaminyltransferase 2 isoform X1

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

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