Format

Send to:

Choose Destination

XYLT2 xylosyltransferase 2 [ Homo sapiens (human) ]

Gene ID: 64132, updated on 8-May-2016
Official Symbol
XYLT2provided by HGNC
Official Full Name
xylosyltransferase 2provided by HGNC
Primary source
HGNC:HGNC:15517
See related
Ensembl:ENSG00000015532 HPRD:16286; MIM:608125; Vega:OTTHUMG00000162057
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]
Orthologs
Location:
17q21.33
Exon count:
13
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 17 NC_000017.11 (50346032..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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
acetylglucosaminyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
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 IMP
Inferred from Mutant Phenotype
more info
PubMed 
glycosaminoglycan biosynthetic process NAS
Non-traceable Author Statement
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 IEA
Inferred from Electronic Annotation
more info
 
cellular_component ND
No biological Data available
more info
 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
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

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
    5001..20154
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_022167.3NP_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, OTTHUMP00000221156, ENST00000017003, OTTHUMT00000367046
    Conserved Domains (2) summary
    pfam02485
    Location:234486
    Branch; Core-2/I-Branching enzyme
    pfam12529
    Location:519700
    Xylo_C; Xylosyltransferase C terminal

RNA

  1. NR_110010.1 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, OTTHUMT00000367048

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p2 Primary Assembly

    Range
    50346032..50361185
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005257572.3XP_005257629.1  

    Conserved Domains (2) summary
    pfam02485
    Location:202454
    Branch; Core-2/I-Branching enzyme
    pfam12529
    Location:487668
    Xylo_C; Xylosyltransferase C terminal
  2. XM_011525114.1XP_011523416.1  

    Conserved Domains (2) summary
    pfam02485
    Location:37289
    Branch; Core-2/I-Branching enzyme
    pfam12529
    Location:322503
    Xylo_C; Xylosyltransferase C terminal

Alternate CHM1_1.1

Genomic

  1. NC_018928.2 Alternate CHM1_1.1

    Range
    48487619..48502391
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)