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Gene id

64132

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

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 (50346031: 50361184) Exons: 12 NC_000017.11

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 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]

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: 96,767

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
Pfam:	PF02485 PF12529
STRING:	ENSP00000017003;

Other Databases

GeneCards: XYLT2; Malacards: XYLT2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000139	Golgi membrane	IEA	cellular_component
GO:0005575	cellular_component	ND	cellular_component
GO:0005789	endoplasmic reticulum mem brane	IEA	cellular_component
GO:0006024	glycosaminoglycan biosynt hetic process	NAS	biological_process
GO:0008375	acetylglucosaminyltransfe rase activity	IEA	molecular_function
GO:0015012	heparan sulfate proteogly can biosynthetic process	IEA	biological_process
GO:0015012	heparan sulfate proteogly can biosynthetic process	IMP	biological_process
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0030158	protein xylosyltransferas e activity	NAS	molecular_function
GO:0030206	chondroitin sulfate biosy nthetic process	IEA	biological_process
GO:0030210	heparin biosynthetic proc ess	IEA	biological_process
GO:0050650	chondroitin sulfate prote oglycan biosynthetic proc ess	IMP	biological_process
GO:0000139	Golgi membrane	IEA	cellular_component
GO:0005575	cellular_component	ND	cellular_component
GO:0005783	endoplasmic reticulum	IEA	cellular_component
GO:0005789	endoplasmic reticulum mem brane	IEA	cellular_component
GO:0005794	Golgi apparatus	IEA	cellular_component
GO:0006024	glycosaminoglycan biosynt hetic process	IEA	biological_process
GO:0006024	glycosaminoglycan biosynt hetic process	IEA	biological_process
GO:0006024	glycosaminoglycan biosynt hetic process	NAS	biological_process
GO:0008375	acetylglucosaminyltransfe rase activity	IEA	molecular_function
GO:0015012	heparan sulfate proteogly can biosynthetic process	IEA	biological_process
GO:0015012	heparan sulfate proteogly can biosynthetic process	IMP	biological_process
GO:0016020	membrane	IEA	cellular_component
GO:0016020	membrane	IEA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0016740	transferase activity	IEA	molecular_function
GO:0016757	transferase activity, tra nsferring glycosyl groups	IEA	molecular_function
GO:0030158	protein xylosyltransferas e activity	IEA	molecular_function
GO:0030158	protein xylosyltransferas e activity	IEA	molecular_function
GO:0030158	protein xylosyltransferas e activity	NAS	molecular_function
GO:0030166	proteoglycan biosynthetic process	IEA	biological_process
GO:0030206	chondroitin sulfate biosy nthetic process	IEA	biological_process
GO:0030210	heparin biosynthetic proc ess	IEA	biological_process
GO:0050650	chondroitin sulfate prote oglycan biosynthetic proc ess	IMP	biological_process
GO:0005575	cellular_component	ND	cellular_component
GO:0006024	glycosaminoglycan biosynt hetic process	NAS	biological_process
GO:0015012	heparan sulfate proteogly can biosynthetic process	IMP	biological_process
GO:0030158	protein xylosyltransferas e activity	NAS	molecular_function
GO:0050650	chondroitin sulfate prote oglycan biosynthetic proc ess	IMP	biological_process

KEGG pathways

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

Diseases

Associated diseases	References
Diabetes	PMID: 16164625
Diabetic nephropathy	PMID: 17003309
Endometriosis	PMID: 16210010
Endometriosis	INFBASE16210010
Spondyloocular syndrome	KEGG: H01496, OMIM: 608125

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
16210010	Endometrio sis					RON SOS 14-3-3 protein eta KSR PI3K p85and uPAR	Show abstract