EXTL2 (exostosin like glycosyltransferase 2)

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

Gene

• Entrez ID: 2135
• Gene name: Exostosin like glycosyltransferase 2
• Gene symbol: EXTL2
• Synonyms (NCBI Gene): EXTR2
• Chromosome: 1
• Chromosome location: 1p21.2

miRNA Show/Hide all (188)

miRTarBase ID	miRNA	Experiments	Reference
MIRT024420	hsa-miR-215-5p	Microarray	19074876
MIRT026802	hsa-miR-192-5p	Microarray	19074876
MIRT973549	hsa-miR-1252	CLIP-seq
MIRT973550	hsa-miR-1265	CLIP-seq
MIRT973551	hsa-miR-1266	CLIP-seq
MIRT973552	hsa-miR-132	CLIP-seq
MIRT973553	hsa-miR-2116	CLIP-seq
MIRT973554	hsa-miR-212	CLIP-seq
MIRT973555	hsa-miR-30a	CLIP-seq
MIRT973556	hsa-miR-30b	CLIP-seq
MIRT973557	hsa-miR-30c	CLIP-seq
MIRT973558	hsa-miR-30d	CLIP-seq
MIRT973559	hsa-miR-30e	CLIP-seq
MIRT973560	hsa-miR-3150b-3p	CLIP-seq
MIRT973561	hsa-miR-3173-3p	CLIP-seq
MIRT973562	hsa-miR-325	CLIP-seq
MIRT973563	hsa-miR-3664-3p	CLIP-seq
MIRT973564	hsa-miR-4276	CLIP-seq
MIRT973565	hsa-miR-4277	CLIP-seq
MIRT973566	hsa-miR-4434	CLIP-seq
MIRT973567	hsa-miR-448	CLIP-seq
MIRT973568	hsa-miR-4495	CLIP-seq
MIRT973569	hsa-miR-4504	CLIP-seq
MIRT973570	hsa-miR-4516	CLIP-seq
MIRT973571	hsa-miR-4518	CLIP-seq
MIRT973572	hsa-miR-4698	CLIP-seq
MIRT973573	hsa-miR-4699-3p	CLIP-seq
MIRT973574	hsa-miR-4727-5p	CLIP-seq
MIRT973575	hsa-miR-4769-3p	CLIP-seq
MIRT973576	hsa-miR-4773	CLIP-seq
MIRT973577	hsa-miR-4784	CLIP-seq
MIRT973578	hsa-miR-502-5p	CLIP-seq
MIRT973579	hsa-miR-550b	CLIP-seq
MIRT973580	hsa-miR-628-3p	CLIP-seq
MIRT973581	hsa-miR-802	CLIP-seq
MIRT973560	hsa-miR-3150b-3p	CLIP-seq
MIRT973582	hsa-miR-3153	CLIP-seq
MIRT973561	hsa-miR-3173-3p	CLIP-seq
MIRT973583	hsa-miR-376c	CLIP-seq
MIRT973584	hsa-miR-4311	CLIP-seq
MIRT973585	hsa-miR-433	CLIP-seq
MIRT973586	hsa-miR-4720-3p	CLIP-seq
MIRT973577	hsa-miR-4784	CLIP-seq
MIRT973587	hsa-miR-4804-3p	CLIP-seq
MIRT973588	hsa-miR-765	CLIP-seq
MIRT973585	hsa-miR-433	CLIP-seq
MIRT973586	hsa-miR-4720-3p	CLIP-seq
MIRT1988426	hsa-miR-4760-3p	CLIP-seq
MIRT973587	hsa-miR-4804-3p	CLIP-seq
MIRT2222868	hsa-miR-1243	CLIP-seq
MIRT2222869	hsa-miR-1255a	CLIP-seq
MIRT2222870	hsa-miR-1255b	CLIP-seq
MIRT973550	hsa-miR-1265	CLIP-seq
MIRT973551	hsa-miR-1266	CLIP-seq
MIRT973552	hsa-miR-132	CLIP-seq
MIRT2222871	hsa-miR-188-5p	CLIP-seq
MIRT973554	hsa-miR-212	CLIP-seq
MIRT973555	hsa-miR-30a	CLIP-seq
MIRT973556	hsa-miR-30b	CLIP-seq
MIRT973557	hsa-miR-30c	CLIP-seq
MIRT973558	hsa-miR-30d	CLIP-seq
MIRT973559	hsa-miR-30e	CLIP-seq
MIRT2222872	hsa-miR-3163	CLIP-seq
MIRT2222873	hsa-miR-34b	CLIP-seq
MIRT2222874	hsa-miR-3653	CLIP-seq
MIRT973563	hsa-miR-3664-3p	CLIP-seq
MIRT2222875	hsa-miR-4292	CLIP-seq
MIRT2222876	hsa-miR-4308	CLIP-seq
MIRT973585	hsa-miR-433	CLIP-seq
MIRT2222877	hsa-miR-4420	CLIP-seq
MIRT973568	hsa-miR-4495	CLIP-seq
MIRT973571	hsa-miR-4518	CLIP-seq
MIRT2222878	hsa-miR-4653-3p	CLIP-seq
MIRT2222879	hsa-miR-4668-3p	CLIP-seq
MIRT973586	hsa-miR-4720-3p	CLIP-seq
MIRT1988426	hsa-miR-4760-3p	CLIP-seq
MIRT973587	hsa-miR-4804-3p	CLIP-seq
MIRT2222880	hsa-miR-570	CLIP-seq
MIRT2222881	hsa-miR-582-3p	CLIP-seq
MIRT2387582	hsa-miR-4282	CLIP-seq
MIRT973560	hsa-miR-3150b-3p	CLIP-seq
MIRT973582	hsa-miR-3153	CLIP-seq
MIRT973561	hsa-miR-3173-3p	CLIP-seq
MIRT973577	hsa-miR-4784	CLIP-seq
MIRT973588	hsa-miR-765	CLIP-seq
MIRT2526701	hsa-miR-1236	CLIP-seq
MIRT2526702	hsa-miR-1276	CLIP-seq
MIRT2526703	hsa-miR-135a	CLIP-seq
MIRT2526704	hsa-miR-135b	CLIP-seq
MIRT2526705	hsa-miR-140-3p	CLIP-seq
MIRT2526706	hsa-miR-208a	CLIP-seq
MIRT2526707	hsa-miR-208b	CLIP-seq
MIRT2526708	hsa-miR-217	CLIP-seq
MIRT2526709	hsa-miR-219-2-3p	CLIP-seq
MIRT2526710	hsa-miR-23a	CLIP-seq
MIRT2526711	hsa-miR-23b	CLIP-seq
MIRT2526712	hsa-miR-23c	CLIP-seq
MIRT2526713	hsa-miR-2964a-3p	CLIP-seq
MIRT2526714	hsa-miR-3119	CLIP-seq
MIRT2526715	hsa-miR-3140-3p	CLIP-seq
MIRT2526716	hsa-miR-3183	CLIP-seq
MIRT2526717	hsa-miR-345	CLIP-seq
MIRT2526718	hsa-miR-3591-5p	CLIP-seq
MIRT2526719	hsa-miR-3606	CLIP-seq
MIRT2526720	hsa-miR-3617	CLIP-seq
MIRT2222874	hsa-miR-3653	CLIP-seq
MIRT2526721	hsa-miR-3658	CLIP-seq
MIRT2526722	hsa-miR-3671	CLIP-seq
MIRT2526723	hsa-miR-3672	CLIP-seq
MIRT2526724	hsa-miR-3919	CLIP-seq
MIRT973565	hsa-miR-4277	CLIP-seq
MIRT973584	hsa-miR-4311	CLIP-seq
MIRT2526725	hsa-miR-4438	CLIP-seq
MIRT2526726	hsa-miR-4639-5p	CLIP-seq
MIRT2526727	hsa-miR-4666-5p	CLIP-seq
MIRT2526728	hsa-miR-4723-3p	CLIP-seq
MIRT973574	hsa-miR-4727-5p	CLIP-seq
MIRT2526729	hsa-miR-4744	CLIP-seq
MIRT2526730	hsa-miR-4753-3p	CLIP-seq
MIRT1988426	hsa-miR-4760-3p	CLIP-seq
MIRT973575	hsa-miR-4769-3p	CLIP-seq
MIRT2526731	hsa-miR-4778-3p	CLIP-seq
MIRT2526732	hsa-miR-4789-3p	CLIP-seq
MIRT2526733	hsa-miR-4802-3p	CLIP-seq
MIRT2526734	hsa-miR-499-5p	CLIP-seq
MIRT2526735	hsa-miR-520d-5p	CLIP-seq
MIRT2526736	hsa-miR-524-5p	CLIP-seq
MIRT2526737	hsa-miR-526b	CLIP-seq
MIRT2526738	hsa-miR-539	CLIP-seq
MIRT2526739	hsa-miR-583	CLIP-seq
MIRT2526740	hsa-miR-600	CLIP-seq
MIRT2526741	hsa-miR-607	CLIP-seq
MIRT2526742	hsa-miR-641	CLIP-seq
MIRT2526743	hsa-miR-642b	CLIP-seq
MIRT2526744	hsa-miR-921	CLIP-seq
MIRT2526701	hsa-miR-1236	CLIP-seq
MIRT2526702	hsa-miR-1276	CLIP-seq
MIRT2526703	hsa-miR-135a	CLIP-seq
MIRT2526704	hsa-miR-135b	CLIP-seq
MIRT2526705	hsa-miR-140-3p	CLIP-seq
MIRT2526706	hsa-miR-208a	CLIP-seq
MIRT2526707	hsa-miR-208b	CLIP-seq
MIRT973553	hsa-miR-2116	CLIP-seq
MIRT2526708	hsa-miR-217	CLIP-seq
MIRT2526709	hsa-miR-219-2-3p	CLIP-seq
MIRT2526710	hsa-miR-23a	CLIP-seq
MIRT2526711	hsa-miR-23b	CLIP-seq
MIRT2526712	hsa-miR-23c	CLIP-seq
MIRT2526713	hsa-miR-2964a-3p	CLIP-seq
MIRT2526714	hsa-miR-3119	CLIP-seq
MIRT2526715	hsa-miR-3140-3p	CLIP-seq
MIRT2526716	hsa-miR-3183	CLIP-seq
MIRT2526717	hsa-miR-345	CLIP-seq
MIRT2526718	hsa-miR-3591-5p	CLIP-seq
MIRT2526719	hsa-miR-3606	CLIP-seq
MIRT2526720	hsa-miR-3617	CLIP-seq
MIRT2222874	hsa-miR-3653	CLIP-seq
MIRT2526721	hsa-miR-3658	CLIP-seq
MIRT2526722	hsa-miR-3671	CLIP-seq
MIRT2526723	hsa-miR-3672	CLIP-seq
MIRT2526724	hsa-miR-3919	CLIP-seq
MIRT973565	hsa-miR-4277	CLIP-seq
MIRT973584	hsa-miR-4311	CLIP-seq
MIRT2526725	hsa-miR-4438	CLIP-seq
MIRT2526726	hsa-miR-4639-5p	CLIP-seq
MIRT2526727	hsa-miR-4666-5p	CLIP-seq
MIRT2526728	hsa-miR-4723-3p	CLIP-seq
MIRT973574	hsa-miR-4727-5p	CLIP-seq
MIRT2526729	hsa-miR-4744	CLIP-seq
MIRT2526730	hsa-miR-4753-3p	CLIP-seq
MIRT1988426	hsa-miR-4760-3p	CLIP-seq
MIRT2680414	hsa-miR-4762-3p	CLIP-seq
MIRT973575	hsa-miR-4769-3p	CLIP-seq
MIRT2526731	hsa-miR-4778-3p	CLIP-seq
MIRT2526732	hsa-miR-4789-3p	CLIP-seq
MIRT2526733	hsa-miR-4802-3p	CLIP-seq
MIRT2526734	hsa-miR-499-5p	CLIP-seq
MIRT2526735	hsa-miR-520d-5p	CLIP-seq
MIRT2526736	hsa-miR-524-5p	CLIP-seq
MIRT2526737	hsa-miR-526b	CLIP-seq
MIRT2526738	hsa-miR-539	CLIP-seq
MIRT973579	hsa-miR-550b	CLIP-seq
MIRT2526739	hsa-miR-583	CLIP-seq
MIRT2526740	hsa-miR-600	CLIP-seq
MIRT2526741	hsa-miR-607	CLIP-seq
MIRT2526742	hsa-miR-641	CLIP-seq
MIRT2526743	hsa-miR-642b	CLIP-seq
MIRT2526744	hsa-miR-921	CLIP-seq

Gene ontology (GO) Show/Hide all (25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001888	Function	Glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity	IDA	10318803
GO:0001888	Function	Glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity	IEA
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005539	Function	Glycosaminoglycan binding	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005783	Component	Endoplasmic reticulum	IDA	10639137
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005829	Component	Cytosol	IDA
GO:0006044	Process	N-acetylglucosamine metabolic process	IDA	10318803
GO:0006044	Process	N-acetylglucosamine metabolic process	IEA
GO:0008375	Function	Acetylglucosaminyltransferase activity	IEA
GO:0015012	Process	Heparan sulfate proteoglycan biosynthetic process	IEA
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0019276	Process	UDP-N-acetylgalactosamine metabolic process	IDA	10318803
GO:0019276	Process	UDP-N-acetylgalactosamine metabolic process	IEA
GO:0030145	Function	Manganese ion binding	IEA
GO:0035248	Function	Alpha-1,4-N-acetylgalactosaminyltransferase activity	IDA	10318803
GO:0035248	Function	Alpha-1,4-N-acetylgalactosaminyltransferase activity	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0047237	Function	Glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity	IEA

Other IDs

• MIM: 602411
• HGNC: 3516
• e!Ensembl: ENSG00000162694

Protein

• UniProt ID: Q9UBQ6
• Protein name: Exostosin-like 2 (EC 2.4.1.223) (Alpha-1,4-N-acetylhexosaminyltransferase EXTL2) (Alpha-GalNAcT EXTL2) (EXT-related protein 2) (Glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase) [Cleaved into: Processed exostosin-like 2]
• Protein function: Glycosyltransferase required for the biosynthesis of heparan-sulfate and responsible for the alternating addition of beta-1-4-linked glucuronic acid (GlcA) and alpha-1-4-linked N-acetylglucosamine (GlcNAc) units to nascent heparan sulfate chains
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF09258	Glyco_transf_64	66 → 321	Glycosyl transferase family 64 domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous.
• Sequence:

  MRCCHICKLPGRVMGIRVLRLSLVVILVLLLVAGALTALLPSVKEDKMLMLRREIKSQGK
  STMDSFTLIMQTYNRTDLLLKLLNHYQAVPNLHKVIVVWNNIGEKAPDELWNSLGPHPIP
  VIFKQQTANRMRNRLQVFPELETNAVLMVDDDTLISTPDLVFAFSVWQQFPDQIVGFVPR
  KHVSTSSGIYSYGSFEMQAPGSGNGDQYSMVLIGASFFNSKYLELFQRQPAAVHALIDDT
  QNCDDIAMNFIIAKHIGKTSGIFVKPVNMDNLEKETNSGYSGMWHRAEHALQRSYCINKL
  VNIYDSMPLRYSNIMISQFGFPYANYKRKI

• Sequence length: 330

Pathways

KEGG Pathway	Reactome Pathway
Glycosaminoglycan biosynthesis - heparan sulfate / heparin	XBP1(S) activates chaperone genes
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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
MULTIPLE SCLEROSIS	—	GWAS catalog	21833088, 24076602, 40262193	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	38632662	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	38632662	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	35396580	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (12)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Neoplasms	Breast neoplasm	Pubtator	30054430	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	24176719		★☆☆☆☆ Found in Text Mining only
Dry Eye Syndromes	Dry eye syndrome	Pubtator	19011014	Inhibit	★☆☆☆☆ Found in Text Mining only
Hereditary Multiple Exostoses	Multiple congenital exostosis	BEFREE	10878610, 9473480		★☆☆☆☆ Found in Text Mining only
MPS III C	Mucopolysaccharidosis	BEFREE	26347037		★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidoses	Mucopolysaccharidosis	Pubtator	19690583	Associate	★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis III	Mucopolysaccharidosis	Pubtator	19690583, 26347037	Associate	★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis Type IIIA	Mucopolysaccharidosis	BEFREE	19690583		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	9473480		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	32517548	Associate	★☆☆☆☆ Found in Text Mining only
Osteopetrosis	Osteopetrosis	BEFREE	9473480		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	36181793	Associate	★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

EXTL1 2 shared pathwaysGlycosaminoglycan biosynthesis - heparan sulfate / heparin, XBP1(S) activates chaperone genes Related via 2 shared pathways including Glycosaminoglycan biosynthesis - heparan sulfate / heparin, XBP1(S) activates chaperone genes. EXTL3 2 shared pathwaysGlycosaminoglycan biosynthesis - heparan sulfate / heparin, XBP1(S) activates chaperone genes Related via 2 shared pathways including Glycosaminoglycan biosynthesis - heparan sulfate / heparin, XBP1(S) activates chaperone genes.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
EXTL1	0	[]	2	["Glycosaminoglycan biosynthesis - heparan sulfate \/ heparin","XBP1(S) activates chaperone genes"]	0	[]
EXTL3	0	[]	2	["Glycosaminoglycan biosynthesis - heparan sulfate \/ heparin","XBP1(S) activates chaperone genes"]	0	[]

Diseases Linked via Similar Genes

Atrial fibrillation Linked via 1 of 2 related genesEXTL3 Desbuquois syndrome Linked via 1 of 2 related genesEXTL3 Skeletal dysplasia Linked via 1 of 2 related genesEXTL3 immunoskeletal dysplasia with neurodevelopmental abnormalities Linked via 1 of 2 related genesEXTL3

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Atrial fibrillation	1	["EXTL3"]
Desbuquois syndrome	1	["EXTL3"]
Skeletal dysplasia	1	["EXTL3"]
immunoskeletal dysplasia with neurodevelopmental abnormalities	1	["EXTL3"]