• Gene id: 64132

Gene Summary

• Gene Symbol: XYLT2   Gene   UCSC   Ensembl
• Aliases: PXYLT2, SOS, XT-II, XT2, xylT-II
• Gene name: xylosyltransferase 2
• Alternate names: xylosyltransferase 2, UDP-D-xylose:proteoglycan core protein beta-D-xylosyltransferase, peptide O-xylosyltransferase 1, protein xylosyltransferase 2, xylosyltransferase II,
• Gene location: 17q21.33 (119084863: 119093548)     Exons: 15     NC_000011.10
• Gene summary(Entrez): 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 glycosa
• OMIM: 608125

Protein Summary

• Protein general information: Q9H1B5  
  • Name: Xylosyltransferase 2 (EC 2.4.2.26) (Peptide O xylosyltransferase 1) (Xylosyltransferase II) (XT II) (XylT II)
  • Length: 865  
  • Mass: 96767
  • Tissue specificity: Widely expressed. Expressed at higher level in kidney and pancreas. {ECO
• Sequence:

  MVASARVQKLVRRYKLAIATALAILLLQGLVVWSFSGLEEDEAGEKGRQRKPRPLDPGEGSKDTDSSAGRRGSTG
  RRHGRWRGRAESPGVPVAKVVRAVTSRQRASRRVPPAPPPEAPGRQNLSGAAAGEALVGAAGFPPHGDTGSVEGA
  PQPTDNGFTPKCEIVGKDALSALARASTKQCQQEIANVVCLHQAGSLMPKAVPRHCQLTGKMSPGIQWDESQAQQ
  PMDGPPVRIAYMLVVHGRAIRQLKRLLKAVYHEQHFFYIHVDKRSDYLHREVVELAQGYDNVRVTPWRMVTIWGG
  ASLLRMYLRSMRDLLEVPGWAWDFFINLSATDYPTRTNEELVAFLSKNRDKNFLKSHGRDNSRFIKKQGLDRLFH
  ECDSHMWRLGERQIPAGIVVDGGSDWFVLTRSFVEYVVYTDDPLVAQLRQFYTYTLLPAESFFHTVLENSLACET
  LVDNNLRVTNWNRKLGCKCQYKHIVDWCGCSPNDFKPQDFLRLQQVSRPTFFARKFESTVNQEVLEILDFHLYGS
  YPPGTPALKAYWENTYDAADGPSGLSDVMLTAYTAFARLSLHHAATAAPPMGTPLCRFEPRGLPSSVHLYFYDDH
  FQGYLVTQAVQPSAQGPAETLEMWLMPQGSLKLLGRSDQASRLQSLEVGTDWDPKERLFRNFGGLLGPLDEPVAV
  QRWARGPNLTATVVWIDPTYVVATSYDITVDTETEVTQYKPPLSRPLRPGPWTVRLLQFWEPLGETRFLVLPLTF
  NRKLPLRKDDASWLHAGPPHNEYMEQSFQGLSSILNLPQPELAEEAAQRHTQLTGPALEAWTDRELSSFWSVAGL
  CAIGPSPCPSLEPCRLTSWSSLSPDPKSELGPVKADGRLR

• Structural information:
  • Interpro: IPR003406  IPR024448  
  • STRING: ENSP00000017003
• Other Databases: GeneCards:  XYLT2  Malacards:  XYLT2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0050650	chondroitin sulfate proteoglycan biosynthetic process	IBA	biological process
GO:0015012	heparan sulfate proteoglycan biosynthetic process	IBA	biological process
GO:0030158	protein xylosyltransferase activity	IBA	molecular function
GO:0030145	manganese ion binding	IDA	molecular function
GO:0000287	magnesium ion binding	IDA	molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:0030158	protein xylosyltransferase activity	IDA	molecular function
GO:0030158	protein xylosyltransferase activity	IDA	molecular function
GO:0030158	protein xylosyltransferase activity	IDA	molecular function
GO:0050650	chondroitin sulfate proteoglycan biosynthetic process	IMP	biological process
GO:0050650	chondroitin sulfate proteoglycan biosynthetic process	IMP	biological process
GO:0015012	heparan sulfate proteoglycan biosynthetic process	IMP	biological process
GO:0015012	heparan sulfate proteoglycan biosynthetic process	IMP	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0030158	protein xylosyltransferase activity	IEA	molecular function
GO:0030203	glycosaminoglycan metabolic process	TAS	biological process
GO:0000139	Golgi membrane	TAS	cellular component
GO:0030210	heparin biosynthetic process	IEA	biological process
GO:0030166	proteoglycan biosynthetic process	IEA	biological process
GO:0006024	glycosaminoglycan biosynthetic process	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0015012	heparan sulfate proteoglycan biosynthetic process	IEA	biological process
GO:0030206	chondroitin sulfate biosynthetic process	IEA	biological process
GO:0030158	protein xylosyltransferase activity	NAS	molecular function
GO:0006024	glycosaminoglycan biosynthetic process	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00534	Glycosaminoglycan biosynthesis - heparan sulfate / heparin
hsa00532	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate

Diseases

Associated diseases	References
Pseudoxanthoma elasticum	KEGG:H00560
Spondyloocular syndrome	KEGG:H01496
Pseudoxanthoma elasticum	KEGG:H00560
Spondyloocular syndrome	KEGG:H01496
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq