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XYLT2 xylosyltransferase 2 [ Homo sapiens (human) ]

Gene ID: 64132, updated on 29-Mar-2020

Summary

Official Symbol
XYLT2provided by HGNC
Official Full Name
xylosyltransferase 2provided by HGNC
Primary source
HGNC:HGNC:15517
See related
Ensembl:ENSG00000015532 MIM:608125
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

Genomic context

See XYLT2 in Genome Data Viewer
Location:
17q21.33
Exon count:
12
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (50346126..50361185)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (48423393..48440512)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene transmembrane protein 92 Neighboring gene TMEM92 antisense RNA 1 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: 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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
magnesium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
manganese ion binding IDA
Inferred from Direct Assay
more info
PubMed 
protein xylosyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein xylosyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein xylosyltransferase activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
chondroitin sulfate biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
chondroitin sulfate proteoglycan biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chondroitin sulfate proteoglycan biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
glycosaminoglycan biosynthetic process NAS
Non-traceable Author Statement
more info
PubMed 
glycosaminoglycan metabolic process TAS
Traceable Author Statement
more info
 
heparan sulfate proteoglycan biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
heparan sulfate proteoglycan biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
heparan sulfate proteoglycan biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
heparin biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi membrane TAS
Traceable Author Statement
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

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

NCBI Reference Sequences (RefSeq)

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
    Q9H1B5
    UniProtKB/TrEMBL
    B4DT06
    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: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005257572.4XP_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
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