XYLT2 (xylosyltransferase 2)

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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 64132
• Gene name: Xylosyltransferase 2
• Gene symbol: XYLT2
• Synonyms (NCBI Gene): 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 glycosa

SNPs Show/Hide all (6)

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 Show/Hide all (330)

miRTarBase ID	miRNA	Experiments	Reference
MIRT031129	hsa-miR-19b-3p	Sequencing	20371350
MIRT031354	hsa-miR-18a-5p	Sequencing	20371350
MIRT052196	hsa-let-7b-5p	CLASH	23622248
MIRT050545	hsa-miR-20a-5p	CLASH	23622248
MIRT049751	hsa-miR-92a-3p	CLASH	23622248
MIRT048867	hsa-miR-93-5p	CLASH	23622248
MIRT039948	hsa-miR-615-3p	CLASH	23622248
MIRT036433	hsa-miR-1226-3p	CLASH	23622248
MIRT732573	hsa-miR-32-5p	Microarray, qRT-PCR	34258170
MIRT1497904	hsa-miR-1225-3p	CLIP-seq
MIRT1497905	hsa-miR-1233	CLIP-seq
MIRT1497906	hsa-miR-1244	CLIP-seq
MIRT1497907	hsa-miR-1343	CLIP-seq
MIRT1497908	hsa-miR-140-3p	CLIP-seq
MIRT1497909	hsa-miR-146b-3p	CLIP-seq
MIRT1497910	hsa-miR-18a	CLIP-seq
MIRT1497911	hsa-miR-18b	CLIP-seq
MIRT1497912	hsa-miR-199a-3p	CLIP-seq
MIRT1497913	hsa-miR-199b-3p	CLIP-seq
MIRT1497914	hsa-miR-214	CLIP-seq
MIRT1497915	hsa-miR-25	CLIP-seq
MIRT1497916	hsa-miR-29a	CLIP-seq
MIRT1497917	hsa-miR-29b	CLIP-seq
MIRT1497918	hsa-miR-29c	CLIP-seq
MIRT1497919	hsa-miR-3120-5p	CLIP-seq
MIRT1497920	hsa-miR-3129-5p	CLIP-seq
MIRT1497921	hsa-miR-3136-3p	CLIP-seq
MIRT1497922	hsa-miR-3145-5p	CLIP-seq
MIRT1497923	hsa-miR-3157-5p	CLIP-seq
MIRT1497924	hsa-miR-3182	CLIP-seq
MIRT1497925	hsa-miR-3194-3p	CLIP-seq
MIRT1497926	hsa-miR-32	CLIP-seq
MIRT1497927	hsa-miR-3607-3p	CLIP-seq
MIRT1497928	hsa-miR-3619-5p	CLIP-seq
MIRT1497929	hsa-miR-363	CLIP-seq
MIRT1497930	hsa-miR-3663-3p	CLIP-seq
MIRT1497931	hsa-miR-367	CLIP-seq
MIRT1497932	hsa-miR-3686	CLIP-seq
MIRT1497933	hsa-miR-3913-3p	CLIP-seq
MIRT1497934	hsa-miR-3921	CLIP-seq
MIRT1497935	hsa-miR-3942-3p	CLIP-seq
MIRT1497936	hsa-miR-4251	CLIP-seq
MIRT1497937	hsa-miR-4269	CLIP-seq
MIRT1497938	hsa-miR-4275	CLIP-seq
MIRT1497939	hsa-miR-4283	CLIP-seq
MIRT1497940	hsa-miR-4286	CLIP-seq
MIRT1497941	hsa-miR-4291	CLIP-seq
MIRT1497942	hsa-miR-4303	CLIP-seq
MIRT1497943	hsa-miR-4329	CLIP-seq
MIRT1497944	hsa-miR-4489	CLIP-seq
MIRT1497945	hsa-miR-4494	CLIP-seq
MIRT1497946	hsa-miR-4514	CLIP-seq
MIRT1497947	hsa-miR-4532	CLIP-seq
MIRT1497948	hsa-miR-4652-3p	CLIP-seq
MIRT1497949	hsa-miR-4653-5p	CLIP-seq
MIRT1497950	hsa-miR-4659a-3p	CLIP-seq
MIRT1497951	hsa-miR-4659b-3p	CLIP-seq
MIRT1497952	hsa-miR-4663	CLIP-seq
MIRT1497953	hsa-miR-4691-3p	CLIP-seq
MIRT1497954	hsa-miR-4691-5p	CLIP-seq
MIRT1497955	hsa-miR-4692	CLIP-seq
MIRT1497956	hsa-miR-4693-3p	CLIP-seq
MIRT1497957	hsa-miR-4735-3p	CLIP-seq
MIRT1497958	hsa-miR-4742-5p	CLIP-seq
MIRT1497959	hsa-miR-4778-3p	CLIP-seq
MIRT1497960	hsa-miR-4797-5p	CLIP-seq
MIRT1497961	hsa-miR-499a-5p	CLIP-seq
MIRT1497962	hsa-miR-508-5p	CLIP-seq
MIRT1497963	hsa-miR-761	CLIP-seq
MIRT1497964	hsa-miR-922	CLIP-seq
MIRT1497965	hsa-miR-924	CLIP-seq
MIRT1497966	hsa-miR-92a	CLIP-seq
MIRT1497967	hsa-miR-92b	CLIP-seq
MIRT1555649	hsa-miR-138	CLIP-seq
MIRT1555650	hsa-miR-548q	CLIP-seq
MIRT1555651	hsa-miR-938	CLIP-seq
MIRT2150030	hsa-miR-1	CLIP-seq
MIRT2150031	hsa-miR-1207-5p	CLIP-seq
MIRT2150032	hsa-miR-1267	CLIP-seq
MIRT2150033	hsa-miR-153	CLIP-seq
MIRT1497910	hsa-miR-18a	CLIP-seq
MIRT1497911	hsa-miR-18b	CLIP-seq
MIRT2150034	hsa-miR-206	CLIP-seq
MIRT1497919	hsa-miR-3120-5p	CLIP-seq
MIRT1497924	hsa-miR-3182	CLIP-seq
MIRT1497927	hsa-miR-3607-3p	CLIP-seq
MIRT2150035	hsa-miR-3673	CLIP-seq
MIRT1497932	hsa-miR-3686	CLIP-seq
MIRT1497935	hsa-miR-3942-3p	CLIP-seq
MIRT1497937	hsa-miR-4269	CLIP-seq
MIRT1497938	hsa-miR-4275	CLIP-seq
MIRT2150036	hsa-miR-448	CLIP-seq
MIRT1497945	hsa-miR-4494	CLIP-seq
MIRT1497946	hsa-miR-4514	CLIP-seq
MIRT1497947	hsa-miR-4532	CLIP-seq
MIRT1497948	hsa-miR-4652-3p	CLIP-seq
MIRT1497950	hsa-miR-4659a-3p	CLIP-seq
MIRT1497951	hsa-miR-4659b-3p	CLIP-seq
MIRT1497952	hsa-miR-4663	CLIP-seq
MIRT2150037	hsa-miR-4684-3p	CLIP-seq
MIRT1497954	hsa-miR-4691-5p	CLIP-seq
MIRT1497955	hsa-miR-4692	CLIP-seq
MIRT2150038	hsa-miR-4728-3p	CLIP-seq
MIRT1497957	hsa-miR-4735-3p	CLIP-seq
MIRT2150039	hsa-miR-4736	CLIP-seq
MIRT1497958	hsa-miR-4742-5p	CLIP-seq
MIRT2150040	hsa-miR-4763-3p	CLIP-seq
MIRT1497961	hsa-miR-499a-5p	CLIP-seq
MIRT2150041	hsa-miR-613	CLIP-seq
MIRT2150030	hsa-miR-1	CLIP-seq
MIRT1497904	hsa-miR-1225-3p	CLIP-seq
MIRT1497905	hsa-miR-1233	CLIP-seq
MIRT1497906	hsa-miR-1244	CLIP-seq
MIRT2370092	hsa-miR-1260	CLIP-seq
MIRT2370093	hsa-miR-1260b	CLIP-seq
MIRT2370094	hsa-miR-1301	CLIP-seq
MIRT1497907	hsa-miR-1343	CLIP-seq
MIRT1497908	hsa-miR-140-3p	CLIP-seq
MIRT1497909	hsa-miR-146b-3p	CLIP-seq
MIRT2370095	hsa-miR-1827	CLIP-seq
MIRT2370096	hsa-miR-188-3p	CLIP-seq
MIRT1497910	hsa-miR-18a	CLIP-seq
MIRT1497911	hsa-miR-18b	CLIP-seq
MIRT2370097	hsa-miR-193a-3p	CLIP-seq
MIRT2370098	hsa-miR-193b	CLIP-seq
MIRT1497912	hsa-miR-199a-3p	CLIP-seq
MIRT1497913	hsa-miR-199b-3p	CLIP-seq
MIRT2150034	hsa-miR-206	CLIP-seq
MIRT1497914	hsa-miR-214	CLIP-seq
MIRT1497915	hsa-miR-25	CLIP-seq
MIRT2370099	hsa-miR-298	CLIP-seq
MIRT1497916	hsa-miR-29a	CLIP-seq
MIRT1497917	hsa-miR-29b	CLIP-seq
MIRT1497918	hsa-miR-29c	CLIP-seq
MIRT1497919	hsa-miR-3120-5p	CLIP-seq
MIRT1497920	hsa-miR-3129-5p	CLIP-seq
MIRT1497921	hsa-miR-3136-3p	CLIP-seq
MIRT1497922	hsa-miR-3145-5p	CLIP-seq
MIRT2370100	hsa-miR-3156-3p	CLIP-seq
MIRT1497923	hsa-miR-3157-5p	CLIP-seq
MIRT1497924	hsa-miR-3182	CLIP-seq
MIRT2370101	hsa-miR-3190	CLIP-seq
MIRT1497925	hsa-miR-3194-3p	CLIP-seq
MIRT1497926	hsa-miR-32	CLIP-seq
MIRT1497927	hsa-miR-3607-3p	CLIP-seq
MIRT2370102	hsa-miR-3607-5p	CLIP-seq
MIRT1497928	hsa-miR-3619-5p	CLIP-seq
MIRT1497929	hsa-miR-363	CLIP-seq
MIRT1497930	hsa-miR-3663-3p	CLIP-seq
MIRT1497931	hsa-miR-367	CLIP-seq
MIRT2150035	hsa-miR-3673	CLIP-seq
MIRT1497932	hsa-miR-3686	CLIP-seq
MIRT2370103	hsa-miR-3911	CLIP-seq
MIRT1497933	hsa-miR-3913-3p	CLIP-seq
MIRT2370104	hsa-miR-3915	CLIP-seq
MIRT1497934	hsa-miR-3921	CLIP-seq
MIRT2370105	hsa-miR-3928	CLIP-seq
MIRT1497935	hsa-miR-3942-3p	CLIP-seq
MIRT1497936	hsa-miR-4251	CLIP-seq
MIRT2370106	hsa-miR-4254	CLIP-seq
MIRT1497937	hsa-miR-4269	CLIP-seq
MIRT1497938	hsa-miR-4275	CLIP-seq
MIRT1497939	hsa-miR-4283	CLIP-seq
MIRT1497940	hsa-miR-4286	CLIP-seq
MIRT1497941	hsa-miR-4291	CLIP-seq
MIRT1497942	hsa-miR-4303	CLIP-seq
MIRT2370107	hsa-miR-4305	CLIP-seq
MIRT2370108	hsa-miR-4308	CLIP-seq
MIRT2370109	hsa-miR-4316	CLIP-seq
MIRT1497943	hsa-miR-4329	CLIP-seq
MIRT2370110	hsa-miR-4455	CLIP-seq
MIRT2370111	hsa-miR-4476	CLIP-seq
MIRT2150036	hsa-miR-448	CLIP-seq
MIRT2370112	hsa-miR-4487	CLIP-seq
MIRT1497944	hsa-miR-4489	CLIP-seq
MIRT1497945	hsa-miR-4494	CLIP-seq
MIRT2370113	hsa-miR-4501	CLIP-seq
MIRT1497946	hsa-miR-4514	CLIP-seq
MIRT1497947	hsa-miR-4532	CLIP-seq
MIRT2370114	hsa-miR-4632	CLIP-seq
MIRT1497948	hsa-miR-4652-3p	CLIP-seq
MIRT1497949	hsa-miR-4653-5p	CLIP-seq
MIRT1497950	hsa-miR-4659a-3p	CLIP-seq
MIRT1497951	hsa-miR-4659b-3p	CLIP-seq
MIRT1497952	hsa-miR-4663	CLIP-seq
MIRT1497953	hsa-miR-4691-3p	CLIP-seq
MIRT1497954	hsa-miR-4691-5p	CLIP-seq
MIRT1497955	hsa-miR-4692	CLIP-seq
MIRT1497956	hsa-miR-4693-3p	CLIP-seq
MIRT2370115	hsa-miR-4710	CLIP-seq
MIRT1497957	hsa-miR-4735-3p	CLIP-seq
MIRT1497958	hsa-miR-4742-5p	CLIP-seq
MIRT1497959	hsa-miR-4778-3p	CLIP-seq
MIRT1497960	hsa-miR-4797-5p	CLIP-seq
MIRT2370116	hsa-miR-485-3p	CLIP-seq
MIRT1497961	hsa-miR-499a-5p	CLIP-seq
MIRT2370117	hsa-miR-5047	CLIP-seq
MIRT1497962	hsa-miR-508-5p	CLIP-seq
MIRT2370118	hsa-miR-517a	CLIP-seq
MIRT2370119	hsa-miR-517b	CLIP-seq
MIRT2370120	hsa-miR-517c	CLIP-seq
MIRT2370121	hsa-miR-545	CLIP-seq
MIRT2370122	hsa-miR-609	CLIP-seq
MIRT2150041	hsa-miR-613	CLIP-seq
MIRT2370123	hsa-miR-662	CLIP-seq
MIRT1497963	hsa-miR-761	CLIP-seq
MIRT2370124	hsa-miR-767-3p	CLIP-seq
MIRT2370125	hsa-miR-875-3p	CLIP-seq
MIRT2370126	hsa-miR-892b	CLIP-seq
MIRT1497964	hsa-miR-922	CLIP-seq
MIRT1497965	hsa-miR-924	CLIP-seq
MIRT1497966	hsa-miR-92a	CLIP-seq
MIRT1497967	hsa-miR-92b	CLIP-seq
MIRT2370127	hsa-miR-940	CLIP-seq
MIRT2150031	hsa-miR-1207-5p	CLIP-seq
MIRT1497922	hsa-miR-3145-5p	CLIP-seq
MIRT1497924	hsa-miR-3182	CLIP-seq
MIRT1497935	hsa-miR-3942-3p	CLIP-seq
MIRT1497937	hsa-miR-4269	CLIP-seq
MIRT1497938	hsa-miR-4275	CLIP-seq
MIRT1497945	hsa-miR-4494	CLIP-seq
MIRT1497946	hsa-miR-4514	CLIP-seq
MIRT1497948	hsa-miR-4652-3p	CLIP-seq
MIRT1497950	hsa-miR-4659a-3p	CLIP-seq
MIRT1497951	hsa-miR-4659b-3p	CLIP-seq
MIRT1497952	hsa-miR-4663	CLIP-seq
MIRT1497955	hsa-miR-4692	CLIP-seq
MIRT1497958	hsa-miR-4742-5p	CLIP-seq
MIRT2150040	hsa-miR-4763-3p	CLIP-seq
MIRT1497961	hsa-miR-499a-5p	CLIP-seq
MIRT1497962	hsa-miR-508-5p	CLIP-seq
MIRT2370092	hsa-miR-1260	CLIP-seq
MIRT2370093	hsa-miR-1260b	CLIP-seq
MIRT2370096	hsa-miR-188-3p	CLIP-seq
MIRT2370100	hsa-miR-3156-3p	CLIP-seq
MIRT1497959	hsa-miR-4778-3p	CLIP-seq
MIRT1497960	hsa-miR-4797-5p	CLIP-seq
MIRT2370123	hsa-miR-662	CLIP-seq
MIRT2370124	hsa-miR-767-3p	CLIP-seq
MIRT1497965	hsa-miR-924	CLIP-seq
MIRT2663890	hsa-miR-1182	CLIP-seq
MIRT2150031	hsa-miR-1207-5p	CLIP-seq
MIRT1497904	hsa-miR-1225-3p	CLIP-seq
MIRT1497905	hsa-miR-1233	CLIP-seq
MIRT2663891	hsa-miR-1283	CLIP-seq
MIRT2663892	hsa-miR-1287	CLIP-seq
MIRT1497907	hsa-miR-1343	CLIP-seq
MIRT2663893	hsa-miR-150	CLIP-seq
MIRT1497915	hsa-miR-25	CLIP-seq
MIRT2663894	hsa-miR-3135b	CLIP-seq
MIRT1497921	hsa-miR-3136-3p	CLIP-seq
MIRT1497924	hsa-miR-3182	CLIP-seq
MIRT1497925	hsa-miR-3194-3p	CLIP-seq
MIRT1497926	hsa-miR-32	CLIP-seq
MIRT2663895	hsa-miR-331-3p	CLIP-seq
MIRT1497929	hsa-miR-363	CLIP-seq
MIRT1497931	hsa-miR-367	CLIP-seq
MIRT1497934	hsa-miR-3921	CLIP-seq
MIRT2663896	hsa-miR-3978	CLIP-seq
MIRT2370106	hsa-miR-4254	CLIP-seq
MIRT1497939	hsa-miR-4283	CLIP-seq
MIRT1497940	hsa-miR-4286	CLIP-seq
MIRT1497942	hsa-miR-4303	CLIP-seq
MIRT2370108	hsa-miR-4308	CLIP-seq
MIRT1497944	hsa-miR-4489	CLIP-seq
MIRT2370114	hsa-miR-4632	CLIP-seq
MIRT1497948	hsa-miR-4652-3p	CLIP-seq
MIRT1497949	hsa-miR-4653-5p	CLIP-seq
MIRT2663897	hsa-miR-4685-5p	CLIP-seq
MIRT2663898	hsa-miR-4688	CLIP-seq
MIRT2663899	hsa-miR-4713-5p	CLIP-seq
MIRT2663900	hsa-miR-4725-5p	CLIP-seq
MIRT2150038	hsa-miR-4728-3p	CLIP-seq
MIRT2663901	hsa-miR-4758-3p	CLIP-seq
MIRT2150040	hsa-miR-4763-3p	CLIP-seq
MIRT2663902	hsa-miR-4768-5p	CLIP-seq
MIRT2663903	hsa-miR-4794	CLIP-seq
MIRT2663904	hsa-miR-486-3p	CLIP-seq
MIRT2663905	hsa-miR-504	CLIP-seq
MIRT2663906	hsa-miR-532-3p	CLIP-seq
MIRT2663907	hsa-miR-660	CLIP-seq
MIRT2370125	hsa-miR-875-3p	CLIP-seq
MIRT1497966	hsa-miR-92a	CLIP-seq
MIRT1497967	hsa-miR-92b	CLIP-seq
MIRT2663890	hsa-miR-1182	CLIP-seq
MIRT2150031	hsa-miR-1207-5p	CLIP-seq
MIRT1497904	hsa-miR-1225-3p	CLIP-seq
MIRT1497905	hsa-miR-1233	CLIP-seq
MIRT2663891	hsa-miR-1283	CLIP-seq
MIRT2663892	hsa-miR-1287	CLIP-seq
MIRT1497907	hsa-miR-1343	CLIP-seq
MIRT2663893	hsa-miR-150	CLIP-seq
MIRT1497915	hsa-miR-25	CLIP-seq
MIRT2695403	hsa-miR-3133	CLIP-seq
MIRT2663894	hsa-miR-3135b	CLIP-seq
MIRT1497921	hsa-miR-3136-3p	CLIP-seq
MIRT1497924	hsa-miR-3182	CLIP-seq
MIRT1497925	hsa-miR-3194-3p	CLIP-seq
MIRT1497926	hsa-miR-32	CLIP-seq
MIRT2663895	hsa-miR-331-3p	CLIP-seq
MIRT1497929	hsa-miR-363	CLIP-seq
MIRT1497931	hsa-miR-367	CLIP-seq
MIRT2695404	hsa-miR-370	CLIP-seq
MIRT1497934	hsa-miR-3921	CLIP-seq
MIRT2663896	hsa-miR-3978	CLIP-seq
MIRT2370106	hsa-miR-4254	CLIP-seq
MIRT1497939	hsa-miR-4283	CLIP-seq
MIRT1497940	hsa-miR-4286	CLIP-seq
MIRT1497942	hsa-miR-4303	CLIP-seq
MIRT2370108	hsa-miR-4308	CLIP-seq
MIRT1497944	hsa-miR-4489	CLIP-seq
MIRT2695405	hsa-miR-4511	CLIP-seq
MIRT2370114	hsa-miR-4632	CLIP-seq
MIRT1497948	hsa-miR-4652-3p	CLIP-seq
MIRT1497949	hsa-miR-4653-5p	CLIP-seq
MIRT2663897	hsa-miR-4685-5p	CLIP-seq
MIRT2663898	hsa-miR-4688	CLIP-seq
MIRT2663899	hsa-miR-4713-5p	CLIP-seq
MIRT2663900	hsa-miR-4725-5p	CLIP-seq
MIRT2150038	hsa-miR-4728-3p	CLIP-seq
MIRT2663901	hsa-miR-4758-3p	CLIP-seq
MIRT2150040	hsa-miR-4763-3p	CLIP-seq
MIRT2663902	hsa-miR-4768-5p	CLIP-seq
MIRT2663903	hsa-miR-4794	CLIP-seq
MIRT2663904	hsa-miR-486-3p	CLIP-seq
MIRT2663905	hsa-miR-504	CLIP-seq
MIRT2663906	hsa-miR-532-3p	CLIP-seq
MIRT2370125	hsa-miR-875-3p	CLIP-seq
MIRT1497966	hsa-miR-92a	CLIP-seq
MIRT1497967	hsa-miR-92b	CLIP-seq

Gene ontology (GO) Show/Hide all (29)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0000139	Component	Golgi membrane	TAS
GO:0000287	Function	Magnesium ion binding	IDA	18023272
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IDA	25748573
GO:0005794	Component	Golgi apparatus	IEA
GO:0006024	Process	Glycosaminoglycan biosynthetic process	IEA
GO:0006024	Process	Glycosaminoglycan biosynthetic process	NAS	11099377
GO:0008194	Function	UDP-glycosyltransferase activity	IEA
GO:0009101	Process	Glycoprotein biosynthetic process	IEA
GO:0015012	Process	Heparan sulfate proteoglycan biosynthetic process	IBA
GO:0015012	Process	Heparan sulfate proteoglycan biosynthetic process	IEA
GO:0015012	Process	Heparan sulfate proteoglycan biosynthetic process	IMP	17189265, 26027496
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0030145	Function	Manganese ion binding	IDA	18023272
GO:0030158	Function	Protein xylosyltransferase activity	IBA
GO:0030158	Function	Protein xylosyltransferase activity	IDA	17189265, 18023272, 25748573
GO:0030158	Function	Protein xylosyltransferase activity	IEA
GO:0030158	Function	Protein xylosyltransferase activity	NAS	11099377
GO:0030158	Function	Protein xylosyltransferase activity	TAS
GO:0030166	Process	Proteoglycan biosynthetic process	IEA
GO:0030166	Process	Proteoglycan biosynthetic process	IEA
GO:0030203	Process	Glycosaminoglycan metabolic process	TAS
GO:0030210	Process	Heparin proteoglycan biosynthetic process	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0050650	Process	Chondroitin sulfate proteoglycan biosynthetic process	IBA
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. {ECO:0000269|PubMed:17189
• 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

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. Expressed at higher level in kidney and pancreas. {ECO:0000269|PubMed:11099377}.
• Sequence:

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

• Sequence length: 865

Pathways

KEGG Pathway	Reactome Pathway
Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate	A tetrasaccharide linker sequence is required for GAG synthesis
Glycosaminoglycan biosynthesis - heparan sulfate / heparin
Metabolic pathways

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Spondylo-ocular syndrome	Pathogenic; Likely pathogenic	rs797044806, rs797044807, rs779864368, rs1423415130, rs1912543391	RCV000190243 RCV000190244 RCV003311587 RCV000735866 RCV000991400 RCV001251037	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (11)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Autosomal recessive inherited pseudoxanthoma elasticum	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE PSEUDOXANTHOMA ELASTICUM	—	Disgenet	11880368,16571645,25615550,20034067,10835642,11427982,19339160,17617515,16086317,11702217,15459974,10811882,24277820,15086542,11536079,15098239,30154241,10954200	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS	—	CTD	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LARSEN SYNDROME, DOMINANT TYPE	—	CTD	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MARSHALL SYNDROME	—	CTD	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis imperfecta	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	—	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME	—	CTD	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XYLT2-related disorder	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (91)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute leukemia	Leukemia	BEFREE	28938703		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	HPO_DG			★☆☆☆☆ Found in Text Mining only
Angioid Streaks	Angioid streaks	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	29178583		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	2550722		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	10995035		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	34258170	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	10995035		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	26027496	Associate	★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

B3GAT3 3 shared diseasesBone fragility with contractures, arterial rupture, and deafness, Larsen syndrome, Osteoporosis-pseudoglioma syndrome 3 shared pathwaysGlycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate, Glycosaminoglycan biosynthesis - heparan sulfate / heparin, A tetrasaccharide linker sequence is required for GAG synthesis 3 shared evidence sourcesCTD (Bone fragility with contractures, arterial rupture, and deafness), CTD (Larsen syndrome), CTD (Osteoporosis-pseudoglioma syndrome) Related via 3 shared diseases including Bone fragility with contractures, arterial rupture, and deafness, Larsen syndrome — evidence mostly CTD. P4HA1 3 shared diseasesBone fragility with contractures, arterial rupture, and deafness, Larsen syndrome, Osteoporosis-pseudoglioma syndrome 3 shared evidence sourcesCTD (Bone fragility with contractures, arterial rupture, and deafness), CTD (Larsen syndrome), CTD (Osteoporosis-pseudoglioma syndrome) Related via 3 shared diseases including Bone fragility with contractures, arterial rupture, and deafness, Larsen syndrome — evidence mostly CTD. XYLT1 4 shared diseasesPseudoxanthoma elasticum, Bone fragility with contractures, arterial rupture, and deafness, Larsen syndrome, Osteoporosis-pseudoglioma syndrome 3 shared pathwaysGlycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate, Glycosaminoglycan biosynthesis - heparan sulfate / heparin, A tetrasaccharide linker sequence is required for GAG synthesis 4 shared evidence sourcesDisgenet (Pseudoxanthoma elasticum), CTD (Bone fragility with contractures, arterial rupture, and deafness), CTD (Larsen syndrome), CTD (Osteoporosis-pseudoglioma syndrome) Related via 4 shared diseases including Pseudoxanthoma elasticum, Bone fragility with contractures, arterial rupture, and deafness — evidence mostly CTD. B4GALT7 3 shared diseasesBone fragility with contractures, arterial rupture, and deafness, Larsen syndrome, Osteoporosis-pseudoglioma syndrome 3 shared pathwaysGlycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate, Glycosaminoglycan biosynthesis - heparan sulfate / heparin, A tetrasaccharide linker sequence is required for GAG synthesis 3 shared evidence sourcesCTD (Bone fragility with contractures, arterial rupture, and deafness), CTD (Larsen syndrome), CTD (Osteoporosis-pseudoglioma syndrome) Related via 3 shared diseases including Bone fragility with contractures, arterial rupture, and deafness, Larsen syndrome — evidence mostly CTD. PLOD3 4 shared diseasesBone fragility with contractures, arterial rupture, and deafness, Larsen syndrome, Marshall syndrome, Osteoporosis-pseudoglioma syndrome 4 shared evidence sourcesCTD (Bone fragility with contractures, arterial rupture, and deafness), CTD (Larsen syndrome), CTD (Marshall syndrome), CTD (Osteoporosis-pseudoglioma syndrome) Related via 4 shared diseases including Bone fragility with contractures, arterial rupture, and deafness, Larsen syndrome — evidence mostly CTD.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
B3GAT3	3	["Bone fragility with contractures, arterial rupture, and deafness","Larsen syndrome","Osteoporosis-pseudoglioma syndrome"]	3	["Glycosaminoglycan biosynthesis - chondroitin sulfate \/ dermatan sulfate","Glycosaminoglycan biosynthesis - heparan sulfate \/ heparin","A tetrasaccharide linker sequence is required for GAG synthesis"]	3	["CTD (Bone fragility with contractures, arterial rupture, and deafness)","CTD (Larsen syndrome)","CTD (Osteoporosis-pseudoglioma syndrome)"]
P4HA1	3	["Bone fragility with contractures, arterial rupture, and deafness","Larsen syndrome","Osteoporosis-pseudoglioma syndrome"]	0	[]	3	["CTD (Bone fragility with contractures, arterial rupture, and deafness)","CTD (Larsen syndrome)","CTD (Osteoporosis-pseudoglioma syndrome)"]
XYLT1	4	["Pseudoxanthoma elasticum","Bone fragility with contractures, arterial rupture, and deafness","Larsen syndrome","Osteoporosis-pseudoglioma syndrome"]	3	["Glycosaminoglycan biosynthesis - chondroitin sulfate \/ dermatan sulfate","Glycosaminoglycan biosynthesis - heparan sulfate \/ heparin","A tetrasaccharide linker sequence is required for GAG synthesis"]	4	["Disgenet (Pseudoxanthoma elasticum)","CTD (Bone fragility with contractures, arterial rupture, and deafness)","CTD (Larsen syndrome)","CTD (Osteoporosis-pseudoglioma syndrome)"]
B4GALT7	3	["Bone fragility with contractures, arterial rupture, and deafness","Larsen syndrome","Osteoporosis-pseudoglioma syndrome"]	3	["Glycosaminoglycan biosynthesis - chondroitin sulfate \/ dermatan sulfate","Glycosaminoglycan biosynthesis - heparan sulfate \/ heparin","A tetrasaccharide linker sequence is required for GAG synthesis"]	3	["CTD (Bone fragility with contractures, arterial rupture, and deafness)","CTD (Larsen syndrome)","CTD (Osteoporosis-pseudoglioma syndrome)"]
PLOD3	4	["Bone fragility with contractures, arterial rupture, and deafness","Larsen syndrome","Marshall syndrome","Osteoporosis-pseudoglioma syndrome"]	0	[]	4	["CTD (Bone fragility with contractures, arterial rupture, and deafness)","CTD (Larsen syndrome)","CTD (Marshall syndrome)","CTD (Osteoporosis-pseudoglioma syndrome)"]

Diseases Linked via Similar Genes

Craniofacial abnormalities Linked via 2 of 5 related genesB3GAT3, B4GALT7 Neurodevelopmental disorder Linked via 1 of 5 related genesB3GAT3 Non-specific syndromic intellectual disability Linked via 1 of 5 related genesB3GAT3 Atrial fibrillation Linked via 1 of 5 related genesP4HA1 Alzheimer disease Linked via 1 of 5 related genesXYLT1

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Craniofacial abnormalities	2	["B3GAT3","B4GALT7"]
Neurodevelopmental disorder	1	["B3GAT3"]
Non-specific syndromic intellectual disability	1	["B3GAT3"]
Atrial fibrillation	1	["P4HA1"]
Alzheimer disease	1	["XYLT1"]