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    B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 [ Homo sapiens (human) ]

    Gene ID: 148789, updated on 17-Jun-2024

    Summary

    Official Symbol
    B3GALNT2provided by HGNC
    Official Full Name
    beta-1,3-N-acetylgalactosaminyltransferase 2provided by HGNC
    Primary source
    HGNC:HGNC:28596
    See related
    Ensembl:ENSG00000162885 MIM:610194; AllianceGenome:HGNC:28596
    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
    MDDGA11; B3GalNAc-T2
    Summary
    This gene encodes a member of the glycosyltransferase 31 family. The encoded protein synthesizes GalNAc:beta-1,3GlcNAc, a novel carbohydrate structure, on N- and O-glycans. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Mar 2013]
    Expression
    Ubiquitous expression in prostate (RPKM 6.9), esophagus (RPKM 6.9) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See B3GALNT2 in Genome Data Viewer
    Location:
    1q42.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (235439796..235504452, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (234835690..234900322, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (235610505..235667752, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904559 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:235530449-235531162 Neighboring gene tubulin folding cofactor E Neighboring gene MPRA-validated peak773 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:235563413-235563946 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:235605546-235606745 Neighboring gene ribosomal protein S21 pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:235639769-235640268 Neighboring gene MPRA-validated peak774 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:235667854-235668530 Neighboring gene MT-CYB pseudogene 14 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:235695340-235696539 Neighboring gene MT-ND6 pseudogene 14

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC39558

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables UDP-glycosyltransferase 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 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 O-linked glycosylation TAS
    Traceable Author Statement
    more info
     
    involved_in protein glycosylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in Golgi membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2
    Names
    UDP-GalNAc:betaGlcNAc beta-1,3-galactosaminyltransferase, polypeptide 2
    beta-1,3-GalNAc-T2
    NP_001264084.1
    NP_689703.1
    XP_006711812.1
    XP_016855883.1
    XP_047302958.1
    XP_047302959.1
    XP_047302960.1
    XP_047302961.1
    XP_054187907.1
    XP_054187908.1
    XP_054187909.1
    XP_054187910.1
    XP_054187911.1
    XP_054187912.1
    XP_054190572.1
    XP_054190573.1
    XP_054190574.1
    XP_054190575.1
    XP_054190576.1
    XP_054190577.1

    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.

    Genomic

    1. NG_033219.3 RefSeqGene

      Range
      5000..62262
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001277155.3NP_001264084.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 isoform 2

      See identical proteins and their annotated locations for NP_001264084.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) includes an alternate in-frame exon in the 5' coding region, and its transcription extends past a splice site that is used in variant 1. This results in a novel 3' coding region and 3' UTR compared to variant 1. The encoded protein (isoform 2) is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      BC016974, BC029564, FO393422
      Consensus CDS
      CCDS60453.1
      UniProtKB/Swiss-Prot
      Q8NCR0
      Related
      ENSP00000315678.3, ENST00000313984.3
      Conserved Domains (1) summary
      PLN03133
      Location:93142
      PLN03133; beta-1,3-galactosyltransferase; Provisional
    2. NM_152490.5NP_689703.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 isoform 1

      See identical proteins and their annotated locations for NP_689703.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer protein (isoform 1).
      Source sequence(s)
      AB209046, AW513183, BC029564, BQ221255, FO393422
      Consensus CDS
      CCDS1606.1
      UniProtKB/Swiss-Prot
      Q59GR3, Q5TCI3, Q8NCR0, Q96AL7
      UniProtKB/TrEMBL
      A0A6Q8PEZ9
      Related
      ENSP00000355559.3, ENST00000366600.8
      Conserved Domains (2) summary
      PLN03133
      Location:52101
      PLN03133; beta-1,3-galactosyltransferase; Provisional
      cl21608
      Location:307457
      Galactosyl_T; Galactosyltransferase

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      235439796..235504452 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006711749.4XP_006711812.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 isoform X1

      Conserved Domains (1) summary
      cl21608
      Location:307457
      Galactosyl_T; Galactosyltransferase
    2. XM_017000394.2XP_016855883.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 isoform X2

      UniProtKB/TrEMBL
      A0A6Q8PGQ3
      Related
      ENSP00000502392.1, ENST00000676288.1
    3. XM_047447005.1XP_047302961.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 isoform X6

    4. XM_047447004.1XP_047302960.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 isoform X5

    5. XM_047447002.1XP_047302958.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 isoform X3

    6. XM_047447003.1XP_047302959.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 isoform X4

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_014040927.1 Reference GRCh38.p14 PATCHES

      Range
      83388..148044 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054331932.1XP_054187907.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 isoform X1

    2. XM_054331933.1XP_054187908.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 isoform X2

      UniProtKB/TrEMBL
      A0A6Q8PGQ3
    3. XM_054331937.1XP_054187912.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 isoform X6

    4. XM_054331934.1XP_054187909.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 isoform X3

    5. XM_054331936.1XP_054187911.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 isoform X5

    6. XM_054331935.1XP_054187910.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      234835690..234900322 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054334597.1XP_054190572.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 isoform X1

    2. XM_054334598.1XP_054190573.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 isoform X2

      UniProtKB/TrEMBL
      A0A6Q8PGQ3
    3. XM_054334602.1XP_054190577.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 isoform X6

    4. XM_054334599.1XP_054190574.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 isoform X3

    5. XM_054334601.1XP_054190576.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 isoform X5

    6. XM_054334600.1XP_054190575.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 isoform X4