XYLT2 (xylosyltransferase 2)

Gene

• Entrez ID: 64132
• Gene name: Xylosyltransferase 2
• Gene symbol: XYLT2
• Synonyms: PXYLT2, SOS, XT-II, XT2, xylT-II
• Chromosome: 17
• Chromosome location: 17q21.33
• 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]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs6504649	C>G,T	Risk-factor, benign	Coding sequence variant, non coding transcript variant, missense variant
rs199705453	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs779864368	C>-,CC	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs797044806	->C	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs797044807	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1423415130	G>A	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT031129	hsa-miR-19b-3p	Sequencing	20371350
MIRT031354	hsa-miR-18a-5p	Sequencing	20371350
MIRT036433	hsa-miR-1226-3p	CLASH	23622248
MIRT039948	hsa-miR-615-3p	CLASH	23622248
MIRT048867	hsa-miR-93-5p	CLASH	23622248
MIRT049751	hsa-miR-92a-3p	CLASH	23622248
MIRT050545	hsa-miR-20a-5p	CLASH	23622248
MIRT052196	hsa-let-7b-5p	CLASH	23622248

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0000287	Function	Magnesium ion binding	IDA	18023272
GO:0005615	Component	Extracellular space	IDA	25748573
GO:0006024	Process	Glycosaminoglycan biosynthetic process	NAS	11099377
GO:0015012	Process	Heparan sulfate proteoglycan biosynthetic process	IBA	21873635
GO:0015012	Process	Heparan sulfate proteoglycan biosynthetic process	IEA
GO:0015012	Process	Heparan sulfate proteoglycan biosynthetic process	IMP	17189265, 26027496
GO:0016021	Component	Integral component of membrane	IEA
GO:0018215	Process	Protein phosphopantetheinylation	IEA
GO:0030145	Function	Manganese ion binding	IDA	18023272
GO:0030158	Function	Protein xylosyltransferase activity	IBA	21873635
GO:0030158	Function	Protein xylosyltransferase activity	IDA	17189265, 18023272, 25748573
GO:0030158	Function	Protein xylosyltransferase activity	NAS	11099377
GO:0030203	Process	Glycosaminoglycan metabolic process	TAS
GO:0030206	Process	Chondroitin sulfate biosynthetic process	IEA
GO:0030210	Process	Heparin biosynthetic process	IEA
GO:0050650	Process	Chondroitin sulfate proteoglycan biosynthetic process	IBA	21873635
GO:0050650	Process	Chondroitin sulfate proteoglycan biosynthetic process	IMP	17189265, 26027496

Other IDs

• MIM: 608125
• HGNC: 15517
• e!Ensembl: ENSG00000015532

Protein

• UniProt ID: Q9H1B5
• Protein name: Xylosyltransferase 2 (EC 2.4.2.26) (Peptide O-xylosyltransferase 1) (Xylosyltransferase II) (XT-II) (XylT-II)
• Protein function: Catalyzes the first step in the biosynthesis of chondroitin sulfate, heparan sulfate and dermatan sulfate proteoglycans, such as DCN. Transfers D-xylose from UDP-D-xylose to specific serine residues of the core protein.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02485	Branch	234 → 489	Core-2/I-Branching enzyme	Family
  PF12529	Xylo_C	519 → 699	Xylosyltransferase C terminal	Family

• Sequence:

  MVASARVQKLVRRYKLAIATALAILLLQGLVVWSFSGLEEDEAGEKGRQRKPRPLDPGEG
  SKDTDSSAGRRGSTGRRHGRWRGRAESPGVPVAKVVRAVTSRQRASRRVPPAPPPEAPGR
  QNLSGAAAGEALVGAAGFPPHGDTGSVEGAPQPTDNGFTPKCEIVGKDALSALARASTKQ
  CQQEIANVVCLHQAGSLMPKAVPRHCQLTGKMSPGIQWDESQAQQPMDGPPVRIAYMLVV
  HGRAIRQLKRLLKAVYHEQHFFYIHVDKRSDYLHREVVELAQGYDNVRVTPWRMVTIWGG
  ASLLRMYLRSMRDLLEVPGWAWDFFINLSATDYPTRTNEELVAFLSKNRDKNFLKSHGRD
  NSRFIKKQGLDRLFHECDSHMWRLGERQIPAGIVVDGGSDWFVLTRSFVEYVVYTDDPLV
  AQLRQFYTYTLLPAESFFHTVLENSLACETLVDNNLRVTNWNRKLGCKCQYKHIVDWCGC
  SPNDFKPQDFLRLQQVSRPTFFARKFESTVNQEVLEILDFHLYGSYPPGTPALKAYWENT
  YDAADGPSGLSDVMLTAYTAFARLSLHHAATAAPPMGTPLCRFEPRGLPSSVHLYFYDDH
  FQGYLVTQAVQPSAQGPAETLEMWLMPQGSLKLLGRSDQASRLQSLEVGTDWDPKERLFR
  NFGGLLGPLDEPVAVQRWARGPNLTATVVWIDPTYVVATSYDITVDTETEVTQYKPPLSR
  PLRPGPWTVRLLQFWEPLGETRFLVLPLTFNRKLPLRKDDASWLHAGPPHNEYMEQSFQG
  LSSILNLPQPELAEEAAQRHTQLTGPALEAWTDRELSSFWSVAGLCAIGPSPCPSLEPCR
  LTSWSSLSPDPKSELGPVKADGRLR

• Sequence length: 865