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    GXYLT2 glucoside xylosyltransferase 2 [ Homo sapiens (human) ]

    Gene ID: 727936, updated on 10-Dec-2024

    Summary

    Official Symbol
    GXYLT2provided by HGNC
    Official Full Name
    glucoside xylosyltransferase 2provided by HGNC
    Primary source
    HGNC:HGNC:33383
    See related
    Ensembl:ENSG00000172986 MIM:613322; AllianceGenome:HGNC:33383
    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
    GLT8D4
    Summary
    The protein encoded by this gene is a xylosyltransferase that elongates O-linked glucose bound to epidermal growth factor (EGF) repeats. The encoded protein catalyzes the addition of xylose to the O-glucose-modified residues of EGF repeats of Notch proteins. [provided by RefSeq, Sep 2016]
    Expression
    Broad expression in ovary (RPKM 6.1), gall bladder (RPKM 5.3) and 22 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See GXYLT2 in Genome Data Viewer
    Location:
    3p13
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (72888046..72976915)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (72929921..73018837)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (72937197..73026066)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene PSMD12 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14531 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14532 Neighboring gene lysosomal protein transmembrane 4 beta pseudogene 2 Neighboring gene ferritin heavy chain 1 pseudogene 23 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20094 Neighboring gene Sharpr-MPRA regulatory region 10271 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14533 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20095 Neighboring gene uncharacterized LOC124909395 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20096 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14534 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20097 Neighboring gene protein phosphatase 4 regulatory subunit 2 Neighboring gene RNA, U7 small nuclear 19 pseudogene

    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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in O-glycan processing  
    involved_in O-glycan processing PubMed 
    Component Evidence Code Pubs
    located_in membrane  

    General protein information

    Preferred Names
    glucoside xylosyltransferase 2
    Names
    glycosyltransferase 8 domain containing 4
    glycosyltransferase 8 domain-containing protein 4
    NP_001073862.1

    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_001080393.2 → NP_001073862.1  glucoside xylosyltransferase 2 precursor

      See identical proteins and their annotated locations for NP_001073862.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer, protein-coding transcript.
      Source sequence(s)
      AC098481, AC114876
      Consensus CDS
      CCDS46870.1
      UniProtKB/Swiss-Prot
      A0PJZ3
      Related
      ENSP00000374268.4, ENST00000389617.9
      Conserved Domains (1) summary
      cd06430
      Location:110 → 413
      GT8_like_2; GT8_like_2 represents a subfamily of GT8 with unknown function

    RNA

    1. NR_138564.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice junction compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC098481, AC114876

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      72888046..72976915
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      72929921..73018837
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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