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XYLT2 xylosyltransferase 2 [ Homo sapiens (human) ]

Gene ID: 64132, updated on 10-Dec-2024

Summary

Official Symbol
XYLT2provided by HGNC
Official Full Name
xylosyltransferase 2provided by HGNC
Primary source
HGNC:HGNC:15517
See related
Ensembl:ENSG00000015532 MIM:608125; AllianceGenome:HGNC:15517
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
SOS; XT2; XT-II; PXYLT2; xylT-II
Summary
The protein encoded by this gene is an isoform of xylosyltransferase, which belongs to a family of glycosyltransferases. This enzyme transfers xylose from UDP-xylose to specific serine residues of the core protein and initiates the biosynthesis of glycosaminoglycan chains in proteoglycans including chondroitin sulfate, heparan sulfate, heparin and dermatan sulfate. The enzyme activity, which is increased in scleroderma patients, is a diagnostic marker for the determination of sclerotic activity in systemic sclerosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]
Expression
Ubiquitous expression in stomach (RPKM 12.9), testis (RPKM 8.6) and 25 other tissues See more
Orthologs
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Genomic context

See XYLT2 in Genome Data Viewer
Location:
17q21.33
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (50346126..50361185)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (51213470..51228147)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (48423487..48438546)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8692 Neighboring gene Sharpr-MPRA regulatory region 4171 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48354331-48354878 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:48354879-48355426 Neighboring gene transmembrane protein 92 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8693 Neighboring gene TMEM92 antisense RNA 1 Neighboring gene NANOG hESC enhancer GRCh37_chr17:48380397-48381379 Neighboring gene NANOG hESC enhancer GRCh37_chr17:48388769-48389287 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12381 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:48395384-48395963 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48395964-48396542 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8694 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8695 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8696 Neighboring gene Sharpr-MPRA regulatory region 10047 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:48448134-48448295 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12382 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12383 Neighboring gene mitochondrial ribosomal protein L27 Neighboring gene essential meiotic structure-specific endonuclease 1 Neighboring gene leucine rich repeat containing 59

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

Component Evidence Code Pubs
located_in Golgi membrane  
located_in extracellular space PubMed 

General protein information

Preferred Names
xylosyltransferase 2
Names
UDP-D-xylose:proteoglycan core protein beta-D-xylosyltransferase
peptide O-xylosyltransferase 1
protein xylosyltransferase 2
xylosyltransferase II
NP_071450.2
XP_005257629.1
XP_047292478.1
XP_054172872.1
XP_054172873.1

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.

Genomic

  1. NG_012175.1 RefSeqGene

    Range
    5095..20154
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_022167.4NP_071450.2  xylosyltransferase 2

    See identical proteins and their annotated locations for NP_071450.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the protein-coding transcript.
    Source sequence(s)
    AJ277442, AK299999, BM726479, BQ018370
    Consensus CDS
    CCDS11563.1
    UniProtKB/Swiss-Prot
    Q6UY41, Q86V00, Q9H1B5
    Related
    ENSP00000017003.2, ENST00000017003.7
    Conserved Domains (2) summary
    pfam02485
    Location:234486
    Branch; Core-2/I-Branching enzyme
    pfam12529
    Location:519699
    Xylo_C; Xylosyltransferase C terminal

RNA

  1. NR_110010.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an exon in the 3' region compared to variant 1. It is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, renders this transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AJ277442, AY358090, BM726479, BQ018370
    Related
    ENST00000376550.7

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
    50346126..50361185
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005257572.5XP_005257629.1  xylosyltransferase 2 isoform X1

    Conserved Domains (2) summary
    pfam02485
    Location:202454
    Branch; Core-2/I-Branching enzyme
    pfam12529
    Location:487667
    Xylo_C; Xylosyltransferase C terminal
  2. XM_047436522.1XP_047292478.1  xylosyltransferase 2 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    51213470..51228147
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054316897.1XP_054172872.1  xylosyltransferase 2 isoform X1

  2. XM_054316898.1XP_054172873.1  xylosyltransferase 2 isoform X2

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