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

101

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
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

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Autosomal recessive inherited pseudoxanthoma elasticum	Uncertain significance	rs147847688, rs754863487	RCV005023341 RCV000791081
Osteogenesis imperfecta	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs4794136, rs3803883, rs9912503, rs113835371, rs199816555, rs138933160, rs201070818, rs377456488, rs193124050, rs72832454, rs571962145, rs150726624, rs750349082, rs778642140, rs762379910 View all (18 more)	RCV002276845 RCV002276862 RCV002276860 RCV002276873 RCV002276909 RCV002276926 RCV002276944 RCV002276995 RCV002277015 RCV002277029 RCV002277035 RCV002277859 RCV002277860 RCV002277861 RCV002277862 RCV002277863 RCV002277864 RCV002277865 RCV002277866 RCV002277867 RCV002277868 RCV002277869 RCV002277870 RCV002277871 RCV002276528 RCV002278652 RCV002279664 RCV002279668 RCV002279672 RCV002279604 RCV002279602 RCV002279623 RCV002279617
PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF	Benign	rs6504649	RCV000002642
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	rs764731332	RCV005907483
XYLT2-related disorder	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs113835371, rs149423854, rs779253497, rs201070818, rs199498175, rs950735137, rs377456488, rs144474638, rs144391872, rs530027095, rs76588845, rs571962145, rs778642140, rs140443495, rs777339294 View all (21 more)	RCV003931302 RCV003418325 RCV003913447 RCV003416638 RCV004752099 RCV004752123 RCV003923449 RCV003958661 RCV003903584 RCV003951287 RCV003951285 RCV003978808 RCV003960981 RCV003933738 RCV003973652 RCV003943434 RCV003916498 RCV003943464 RCV003916507 RCV003926577 RCV004750881 RCV003964412 RCV003972098 RCV003950341 RCV003925967 RCV003960698 RCV003943213 RCV003970858 RCV003948298 RCV004751779 RCV003958262 RCV003950454 RCV003902962 RCV003942843 RCV003942968 RCV003903096

Show/Hide Text Mining Associations (17)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Auriculo condylar syndrome	Associate	30806792
Carcinoma Hepatocellular	Associate	34258170
Cataract	Associate	26027496
Eye Abnormalities	Associate	26027496
Fractures Compression	Associate	26027496
Hearing Loss	Associate	26027496
Hearing Loss Sensorineural	Associate	26027496
Heart Defects Congenital	Associate	26027496
Insulin Resistance	Associate	17986714
Kidney Diseases	Associate	16164625
Mucopolysaccharidoses	Associate	19690584
Neoplasms	Associate	34371024
Noonan Syndrome	Associate	23756559, 29074966
Osteoporosis pseudoglioma syndrome	Associate	26027496
Pseudoxanthoma Elasticum	Associate	16571645
Skin Diseases	Associate	16571645
Spondylocamptodactyly	Associate	26027496

XYLT2 (xylosyltransferase 2)