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GXYLT2 glucoside xylosyltransferase 2 [ Homo sapiens (human) ]

Gene ID: 727936, updated on 3-May-2025
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
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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

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
Products Interactant Other Gene Complex Source Pubs Description

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables UDP-D-xylose:beta-D-glucoside alpha-1,3-D-xylosyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
enables UDP-glycosyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
enables UDP-xylosyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables UDP-xylosyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables glycosyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
enables transferase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in O-glycan processing IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in O-glycan processing IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
glucoside xylosyltransferase 2
Names
glycosyltransferase 8 domain containing 4
glycosyltransferase 8 domain-containing protein 4
NP_001073862.1

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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_001080393.2NP_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:110413
    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)