Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	64132
Gene name	Xylosyltransferase 2
Gene symbol	XYLT2
Synonyms (NCBI Gene)	PXYLT2SOSXT-IIXT2xylT-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

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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

330

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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	MicroarrayqRT-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

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

MIM	HGNC	e!Ensembl
608125	15517	ENSG00000015532

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

Interactions

View interactions

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)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Spondylo-ocular syndrome	Pathogenic; Likely pathogenic	rs797044806, rs797044807, rs779864368, rs1423415130, rs1912543391	RCV000190243 RCV000190244 RCV003311587 RCV000735866 RCV000991400 RCV001251037 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (11)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Autosomal recessive inherited pseudoxanthoma elasticum	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE PSEUDOXANTHOMA ELASTICUM	—	Disgenet	★★★★★ ★★☆☆☆ 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

Show/Hide Text Mining Associations (91)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
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
Cataract	Cataract	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	29351673		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	31676408		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	29052030		★★★★★ ★☆☆☆☆ Found in Text Mining only
Desbuquois syndrome	Desbuquois Syndrome	BEFREE	31438591		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	18789912		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	22724004, 23512687		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	LHGDN	16164625		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	17003309, 17437056, 18789912		★★★★★ ★☆☆☆☆ Found in Text Mining only
Drusen	Drusen	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	26027496, 26987875, 28884924, 29136277		★★★★★ ★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	19197251		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	29335623		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eye Abnormalities	Eye abnormalities	Pubtator	26027496	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized osteoporosis	Osteoporosis	BEFREE	26987875		★★★★★ ★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	29895929, 29945939		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gronblad-Strandberg Syndrome	Pseudoxanthoma elasticum	CTD_human_DG	16571645		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	26027496	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	26027496	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	26027496	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatic Veno-Occlusive Disease	Hepatic veno-occlusive disease-immunodeficiency syndrome	BEFREE	22982295, 29335623, 30120894, 30797942, 30809031		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperbilirubinemia	Hyperbilirubinemia	BEFREE	29945939		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	16340170		★★★★★ ★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	17986714	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	16164625	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	18789912		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelomonocytic, Chronic	Myelomonocytic Leukemia	BEFREE	23415111		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	BEFREE	30778123		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	10995035		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15950375, 28236853		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	29052030		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitral Valve Stenosis	Mitral Valve Stenosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mouth Abnormalities	Mouth Abnormalities	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidoses	Mucopolysaccharidosis	Pubtator	19690584	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	26027496, 26987875, 28884924, 29136277		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neck webbing	Neck Webbing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19389916, 27732748, 28236853, 29844066		★★★★★ ★☆☆☆☆ Found in Text Mining only
Noonan Syndrome	Noonan Syndrome	BEFREE	23756559, 29074966		★★★★★ ★☆☆☆☆ Found in Text Mining only
Noonan Syndrome	Noonan syndrome	Pubtator	23756559, 26173643, 29074966	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	19275893, 22724004		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	16972020		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	BEFREE	10943841		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	28253374		★★★★★ ★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pseudoxanthoma Elasticum	Pseudoxanthoma elasticum	BEFREE	16571645, 17437056		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pseudoxanthoma Elasticum	Pseudoxanthoma elasticum	UNIPROT_DG	16571645		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pseudoxanthoma Elasticum	Pseudoxanthoma elasticum	CTD_human_DG	16571645		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pseudoxanthoma Elasticum	Pseudoxanthoma elasticum	Pubtator	16571645	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pseudoxanthoma Elasticum, Incomplete	Pseudoxanthoma elasticum	CTD_human_DG	16571645		★★★★★ ★☆☆☆☆ Found in Text Mining only
PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF	Pseudoxanthoma elasticum	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Renal Insufficiency	Renal Insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Restrictive cardiomyopathy	Restrictive cardiomyopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal Detachment	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal Detachment	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	16571645	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	16571645		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	10943841		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spondylo-ocular syndrome	Spondyloocular Syndrome	BEFREE	26027496, 26987875, 28884924, 29136277, 30496831		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spondylo-ocular syndrome	Spondyloocular Syndrome	GENOMICS_ENGLAND_DG	26027496, 26987875, 29136277		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spondylo-ocular syndrome	Spondyloocular Syndrome	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spondylo-ocular syndrome	Spondyloocular Syndrome	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spondyloocular Syndrome, Autosomal Recessive	Spondyloocular Syndrome	ORPHANET_DG	26027496		★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	28284915, 31799635		★★★★★ ★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	29335333, 29351673, 30680461, 31025178		★★★★★ ★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	26987875		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Xeroderma Pigmentosum	BEFREE	8653707		★★★★★ ★☆☆☆☆ Found in Text Mining only

XYLT2 (xylosyltransferase 2)