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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2135
Gene name	Exostosin like glycosyltransferase 2
Gene symbol	EXTL2
Synonyms (NCBI Gene)	EXTR2
Chromosome	1
Chromosome location	1p21.2

188

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

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

MIM	HGNC	e!Ensembl
602411	3516	ENSG00000162694

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

Interactions

View interactions

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

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 Unknown Diseases (4)

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.
MULTIPLE SCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (12)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
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

EXTL2 (exostosin like glycosyltransferase 2)