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    A3GALT2 alpha 1,3-galactosyltransferase 2 [ Homo sapiens (human) ]

    Gene ID: 127550, updated on 10-Dec-2024

    Summary

    Official Symbol
    A3GALT2provided by HGNC
    Official Full Name
    alpha 1,3-galactosyltransferase 2provided by HGNC
    Primary source
    HGNC:HGNC:30005
    See related
    Ensembl:ENSG00000184389 MIM:619850; AllianceGenome:HGNC:30005
    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
    IGB3S; IGBS3S; A3GALT2P
    Summary
    Predicted to enable N-acetyllactosaminide 3-alpha-galactosyltransferase activity and alpha-1,3-galactosyltransferase activity. Predicted to be involved in lipid glycosylation. Predicted to act upstream of or within glycosphingolipid biosynthetic process. Predicted to be located in Golgi cisterna membrane. Predicted to be active in Golgi apparatus and vesicle. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
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    Genomic context

    See A3GALT2 in Genome Data Viewer
    Location:
    1p35.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (33306766..33321098, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (33168388..33182706, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (33772367..33786699, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378635 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 615 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:33549697-33550196 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:33557899-33558556 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 706 Neighboring gene antizyme inhibitor 2 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:33592415-33593614 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 616 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:33605527-33606126 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:33606727-33607326 Neighboring gene zinc finger protein 362 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:33628780-33629512 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:33629513-33630245 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_7027 Neighboring gene tripartite motif containing 62 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_7034 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_7044 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 617 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 618 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 619 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_7054 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_7061 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 620 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:33685009-33685609 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:33685744-33686528 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:33709758-33710342 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 621 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 622 Neighboring gene Sharpr-MPRA regulatory region 4113 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:33729134-33729634 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:33734235-33734736 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:33760897-33761407 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:33764372-33764552 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:33764984-33765933 Neighboring gene MPRA-validated peak168 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:33795184-33795684 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:33795685-33796185 Neighboring gene RN7SK pseudogene 16 Neighboring gene microRNA 3605 Neighboring gene polyhomeotic homolog 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in carbohydrate metabolic process  
    involved_in glycosphingolipid biosynthetic process  
    involved_in lipid glycosylation  
    Component Evidence Code Pubs
    is_active_in Golgi apparatus  
    located_in Golgi cisterna membrane  
    is_active_in vesicle  

    General protein information

    Preferred Names
    alpha-1,3-galactosyltransferase 2
    Names
    alpha 1,3-galactosyltransferase 2, pseudogene
    iGb3 synthase
    isoglobotriaosylceramide synthase
    NP_001073907.1

    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_001080438.1NP_001073907.1  alpha-1,3-galactosyltransferase 2

      Status: VALIDATED

      Source sequence(s)
      AL513327
      Consensus CDS
      CCDS60080.1
      UniProtKB/Swiss-Prot
      U3KPV4
      Related
      ENSP00000475261.1, ENST00000442999.3
      Conserved Domains (1) summary
      cd02515
      Location:68339
      Glyco_transf_6; Glycosyltransferase family 6 comprises enzymes responsible for the production of the human ABO blood group antigens

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      33306766..33321098 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      33168388..33182706 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

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