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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

EXTL2 Gene

protein-coding GIFtS: 57
GCID: GC01M101337

exostoses (multiple)-like 2

Explore 3 diseases affiliated with
EXTL2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Exostoses (Multiple)-Like 2¹ ²		EXT-Related Protein 2² ³
Alpha-1,4-N-Acetylhexosaminyltransferase EXTL2² ³		Exostosin-Like 2²
Alpha-GalNAcT EXTL2² ³		Processed Exostosin-Like 2²
Glucuronyl-Galactosyl-Proteoglycan 4-Alpha-N-Acetylglucosaminyltransferase² ³		EC 2.4.1.223³
EXTR2² ³

External Ids:	HGNC: 3516¹	Entrez Gene: 2135²	Ensembl: ENSG00000162694⁷	OMIM: 602411⁵	UniProtKB: Q9UBQ6³

Export aliases for EXTL2 gene to outside databases

Previous GC identifers: GC01M102128 GC01M100519 GC01M100629 GC01M100800 GC01M101049 GC01M101110 GC01M099463

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: EXTL2_HUMAN, Q9UBQ6

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

Gene Wiki entry for EXTL2

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000001.10 NC_018912.1 NT_032977.9

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the EXTL2 gene promoter:
RFX1 AML1a GATA-3 FOXJ2 (long isoform) FOXJ2 MRF-2 GATA-1 GATA-2 c-Ets-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: EXTL2 promoter sequence

Search SABiosciences Chromatin IP Primers for EXTL2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EXTL2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p21 Ensembl cytogenetic band: 1p21.2 HGNC cytogenetic band: 1p21

EXTL2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EXTL2 gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01M101337: view genomic region (about GC identifiers)

Start:	101,337,941 bp from pter	End:	101,361,554 bp from pter
Size:	23,614 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: EXTL2_HUMAN, Q9UBQ6 (See protein sequence)

Recommended Name: Exostosin-like 2

Size: 330 amino acids; 37466 Da

Subcellular location: Endoplasmic reticulum membrane; Single-pass type II membrane protein (By similarity)

Subcellular location: Processed exostosin-like 2: Secreted. Note=A soluble form is found in the serum

Secondary accessions: B2R795 D3DT60

Explore the universe of human proteins at neXtProt for EXTL2: NX_Q9UBQ6

Post-translational modifications:

The soluble form derives from the membrane form by proteolytic processing¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9UBQ6

EXTL2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (5 alternative transcripts):

NP_001028197.1 NP_001248369.1 NP_001248370.1 NP_001248371.1 NP_001430.1

ENSEMBL proteins:

ENSP00000359132 ENSP00000359131 ENSP00000403363 ENSP00000392255 ENSP00000444385

Human Recombinant Protein Products for EXTL2:

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	GenScript Custom Purified and Recombinant Proteins Services for EXTL2
	Novus Biologicals EXTL2 Protein Novus Biologicals EXTL2 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for EXTL2

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	IEA	--
GO:0005783	endoplasmic reticulum	IDA	10639137
GO:0016021	integral to membrane	IEA	--
GO:0031227	intrinsic to endoplasmic reticulum membrane	IEA	--

EXTL2 for ontologies About GeneDecksing

EXTL2 Antibody Products:

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	Uscn ELISAs and CLIAs for EXTL2

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

EXTL2 for domains About GeneDecksing

1 InterPro domain/family:

IPR015338 HexNAc_Trfase_a

Graphical View of Domain Structure for InterPro Entry Q9UBQ6

ProtoNet protein and cluster: Q9UBQ6

UniProtKB/Swiss-Prot: EXTL2_HUMAN, Q9UBQ6

Similarity: Belongs to the glycosyltransferase 47 family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: EXTL2_HUMAN, Q9UBQ6

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

Catalytic activity: UDP-N-acetyl-D-glucosamine +

beta-D-glucuronosyl-(1->3)-beta-D-galactosyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-xylosyl-proteoglycan = UDP +

alpha-N-acetyl-D-glucosaminyl-(1->4)-beta-D-glucuronosyl-(1->3)-beta-D-galactosyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-xylosyl-proteoglycan

Genatlas biochemistry entry for EXTL2:

EXT-like 2,ubiquitously expressed,alpha 1,4-N-acetylhexosamynyltransferase,transferring N-acetylgalactosamine to the

common glycosaminoglycan protein linkage region most likely critical for the synthesis of heparin/heparan sulfate

Enzyme Number (IUBMB): EC 2.4.1.223¹

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001888	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity	IDA	10318803
GO:0016758	transferase activity, transferring hexosyl groups	--	--
GO:0035248	alpha-1,4-N-acetylgalactosaminyltransferase activity	IDA	10318803
GO:0046872	metal ion binding	IEA	--

EXTL2 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for EXTL2:

Decreased homologous recombina

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for EXTL2

miRNA Products:		OriGene 3'-UTR Clone (see all 2): EXTL2 Browse MicroRNA Expression Plasmids
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		8/20 QIAGEN miScript miRNA Assays for microRNAs that regulate EXTL2 (see all 20):
		hsa-miR-3910 hsa-miR-30c hsa-miR-502-5p hsa-miR-30d hsa-miR-132 hsa-miR-105 hsa-miR-124 hsa-miR-30a

		SwitchGear 3'UTR luciferase reporter plasmid: EXTL2 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for EXTL2 (see all 7) OriGene shRNA RFP: EXTL2 OriGene siRNA: EXTL2
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		Sirion Biotech Custom design and validation of potent shRNA sequences against EXTL2

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for EXTL2
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Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for EXTL2 (see all 6) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for EXTL2 (see all 2) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): EXTL2 (NM_001439)
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		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EXTL2

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for EXTL2
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		Sirion Biotech Customized stable knockdown cell line services for EXTL2 Sirion Biotech Customized inducible knockdown cell line services for EXTL2 Sirion Biotech Customized stable overexpressing cell line services for EXTL2 Sirion Biotech Customized inducible overexpressing cell line services for EXTL2

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EXTL2

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

heparan sulfate biosynthesis

	heparan sulfate biosynthesis	1.00			heparan sulfate biosynthesis (late stages)	0.78
	Glycosaminoglycan biosynthesis - heparan sulfate	0.83

Metabolism

Metabolic pathways

0.38

Pathway sources
See GeneCards unified pathways
Show all pathways

2 BioSystems Pathways for EXTL2

	heparan sulfate biosynthesis (late stages)
	heparan sulfate biosynthesis

2 Kegg Pathways (Kegg details for EXTL2):

	Glycosaminoglycan biosynthesis - heparan sulfate
	Metabolic pathways

UniProtKB/Swiss-Prot: EXTL2_HUMAN, Q9UBQ6

Pathway: Glycan metabolism; heparan sulfate biosynthesis

EXTL2 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for EXTL2

STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

5/7 Interacting proteins for EXTL2 (ENSP00000359131⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 7)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
B3GAT1	ENSP00000307875⁴	STRING: ENSP00000307875
B3GAT2	ENSP00000230053⁴	STRING: ENSP00000230053
B3GAT3	ENSP00000265471⁴	STRING: ENSP00000265471
EXT1	ENSP00000367446⁴	STRING: ENSP00000367446
EXT2	ENSP00000342656⁴	STRING: ENSP00000342656

About this table

Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006044	N-acetylglucosamine metabolic process	IDA	10318803
GO:0015012	heparan sulfate proteoglycan biosynthetic process	IEA	--
GO:0019276	UDP-N-acetylgalactosamine metabolic process	IDA	10318803

EXTL2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

EXTL2 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for EXTL2

2 HMDB Compounds for EXTL2 About this table

Compound	Synonyms	CAS #	PubMed Ids
Uridine 5'-diphosphate	5'-UDP (see all 9)	58-98-0	--
Uridine diphosphate-N-acetylglucosamine	N-[2-[[[5-[(2,4-dioxo-1H-pyrimidin-1-yl)]-3,4-dihydroxy-tetrahydrofuran-2-yl]methoxy-hydroxy-phosphinoyl]oxy-hydroxy-phosphinoyl]oxy-4,5-dihydroxy-6-(hydroxymethyl)tetrahydropyran-3-yl]acetamide (see all 30)	528-04-1	--

3 DrugBank Compounds for EXTL2 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Uridine-5'-Diphosphate	--	58-98-0	target	--	17139284 17016423 10592235
Uridine-Diphosphate-N-Acetylgalactosamine	--	--	target	--	17139284 17016423 10592235
Uridine-Diphosphate-N-Acetylglucosamine	--	--	target	--	17139284 17016423 10592235

2 Novoseek chemical compound relationships for EXTL2 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
heparan sulfate	80	9	11121397 (2), 11390981 (1), 17237233 (1), 16778156 (1) (see all 5)
glucose	0	2	17113856 (1), 15831490 (1)

Search CenterWatch for drugs/clinical trials and news about EXTL2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for EXTL2 gene (5 alternative transcripts):

NM_001033025.2 NM_001261440.1 NM_001261441.1 NM_001261442.1 NM_001439.3

Unigene Cluster for EXTL2:

Exostoses (multiple)-like 2

Hs.357637 [show with all ESTs]

Unigene Representative Sequence: BC045681

7 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000370114(uc001dtk.1 uc001dtl.1 uc010ouk.1 uc001dtm.1)

ENST00000370113 ENST00000450240 ENST00000416479 ENST00000494907 ENST00000480774

ENST00000535414

miRNA Products:		OriGene 3'-UTR Clone (see all 2): EXTL2 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat EXTL2
		8/20 QIAGEN miScript miRNA Assays for microRNAs that regulate EXTL2 (see all 20):
		hsa-miR-3910 hsa-miR-30c hsa-miR-502-5p hsa-miR-30d hsa-miR-132 hsa-miR-105 hsa-miR-124 hsa-miR-30a

		SwitchGear 3'UTR luciferase reporter plasmid: EXTL2 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EXTL2

Additional cDNA sequence:

AB009284.1 AF000416.1 AK001450.1 AK096914.1 AK298124.1 AK312895.1 BC014910.1 BC036015.1

BC045681.1 NR_048570.1 U76189.1

13 DOTS entries:

DT.100026439 DT.87017002 DT.95268294 DT.95360153 DT.100663508 DT.100797786 DT.95268291 DT.121360040

DT.121360051 DT.92427632 DT.92037145 DT.92427631 DT.97806804

24/177 AceView cDNA sequences (see all 177):

AF000416 CA417708 CR624682 AI417923 AA334445 BP360465 N90076 BM263240

BM718000 AA625945 BQ575354 BU628278 AI282717 AA577463 BC014910 BM698603

BM450840 BP358086 AK096914 BM728368 AU133111 BX403529 BM680456 AU130571

GeneLoc Exon Structure

5/8 Alternative Splicing Database (ASD) splice patterns (SP) for EXTL2 (see all 8) About this scheme

ExUns:	1a	·	1b	·	1c	^	2a	·	2b	·	2c	^	3	^	4	^	5a	·	5b	·	5c	^	6	^	7a	·	7b
SP1:											-		-		-
SP2:							-				-		-		-
SP3:							-				-		-		-
SP4:											-		-
SP5:							-				-		-

ECgene alternative splicing isoforms for EXTL2

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

EXTL2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCTAATGTTC

About this image
See EXTL2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for EXTL2

SOURCE GeneReport for Unigene cluster: Hs.357637

UniProtKB/Swiss-Prot: EXTL2_HUMAN, Q9UBQ6

Tissue specificity: Ubiquitous

SABiosciences Custom PCR Arrays for EXTL2

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for EXTL2 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat EXTL2
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat EXTL2
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EXTL2

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EXTL2

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for EXTL2 gene from 6/15 species (see all 15) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	EXTL2¹	exostoses (multiple)-like 2	74.77(n) 77.2(a)		424465 XM_422308.2 XP_422308.2
lizard (Anolis carolinensis)	Reptilia	EXTL2⁶	--	80(a)	1 ↔ 1	4(87515396-87521157)
African clawed frog (Xenopus laevis)	Amphibia	Xl.19970²	Xenopus laevis transcribed sequence with weak similarity to protein refNP_001430.1 (H.sapiens) exostoses (multiple)-like 2; Exostoses, multiple, like 2 [Homo sapiens] less	74.64(n)		BG409836.1
zebrafish (Danio rerio)	Actinopterygii	extl2¹	exotoses (multiple)-like 2	61.46(n) 63.44(a)		558373 NM_001076561.1 NP_001070029.1
thale cress (Arabidopsis thaliana)	eudicotyledons	EPC1¹	nucleotide-diphospho-sugar transferase-like protein less	49.15(n) 36.44(a)		824749 NM_115441.3 NP_191142.1
rice (Oryza sativa)	Liliopsida	Os06g0705000¹	hypothetical protein	44.23(n) 37.18(a)		9267681 NM_001188056.1 NP_001174985.1

ENSEMBL Gene Tree for EXTL2 (if available)
TreeFam Gene Tree for EXTL2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for EXTL2 gene

EXTL1² EXTL3² EXT1² EXT2²

2 SIMAP similar genes for EXTL2 using alignment to 9 protein entries: EXTL2_HUMAN (see all proteins):

EXT2 EXTL3

EXTL2 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for EXTL2
PGOHUM00000241025

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs188852529^1,2		--	101337558(+)	`GCTACA/GTTGCA`	6	--	ds500¹		0	--	--	--	--
rs193274721^1,2		--	101337591(+)	`AGCCTA/GAGCAT`	6	--	ds500¹		0	--	--	--	--
rs140291599^1,2		--	101337633(+)	`GAGGCA/GTTCAG`	6	--	ds500¹		0	--	--	--	--
rs145107788^1,2		--	101337660(+)	`TAGGAA/GTCTAT`	6	--	ds500¹		0	--	--	--	--
rs138984226^1,2		--	101337702(+)	`GAACTG/TCACTT`	6	--	ds500¹		0	--	--	--	--
rs149426753^1,2		--	101337746(+)	`ACCATG/TATATG`	6	--	ds500¹		0	--	--	--	--
rs144856691^1,2		--	101337812(+)	`TTGGGA/GATATT`	6	--	ds500¹		0	--	--	--	--
rs148173435^1,2		--	101337843(+)	`AATGTC/GTCTAC`	6	--	ds500¹		0	--	--	--	--
rs185419363^1,2		--	101337870(+)	`TATTAA/GAGTAT`	6	--	ds500¹		0	--	--	--	--
rs79214126^1,2	F	--	101337893(+)	`TGTGTA/GAGAAC`	6	--	ds500¹		1		WA	118

HapMap Linkage Disequilibrium report for EXTL2 (101337941 - 101361554 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for EXTL2: --

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

EXTL2 for disorders           About GeneDecksing

OMIM gene information: 602411    OMIM disorders: --

3 diseases for EXTL2:    About MalaCards

exostoses hereditary multiple exostoses exostosis

1 disease from the University of Copenhagen DISEASES database for EXTL2:

Exostosis

2 Novoseek disease relationships for EXTL2 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
exostoses multiple hereditary	93.2	3	11121397 (1), 17237233 (1), 9473480 (1)
tumors	6.59	4	11121397 (1), 17237233 (1), 9473480 (1)

Export disorders for EXTL2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for EXTL2 gene, integrated from 9 sources (see all 28):
(articles sorted by number of sources associating them with EXTL2)

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Identification and characterization of a novel member of the EXT gene family, EXTL2. (PubMed id 9450183)^{1, 2, 3, 9} Wuyts W....Willems P.J. (1997)
Structure, chromosomal location, and expression profile of EXTR1 and EXTR2, new members of the multiple exostoses gene family. (PubMed id 9473480)^{1, 2, 9} Saito T....Hori T.-A. (1998)
Two-step mechanism that determines the donor binding specificity of human UDP-N-acetylhexosaminyltransferase. (PubMed id 15831490)^{1, 3, 9} Sobhany M....Negishi M. (2005)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate. (PubMed id 10639137)^{1, 2} McCormick C.... Tufaro F. (2000)
The tumor suppressor EXT-like gene EXTL2 encodes an alpha1, 4-N- acetylhexosaminyltransferase that transfers N-acetylgalactosamine and N-acetylglucosamine to the common glycosaminoglycan-protein linkage region. The key enzyme for the chain initiation of heparan sulfate. (PubMed id 10318803)^{1, 2} Kitagawa H.... Sugahara K. (1999)
Genetic risk and a primary role for cell-mediated immu ne mechanisms in multiple sclerosis. (PubMed id 21833088)¹ ....Compston A. (2011)
Gene silencing of EXTL2 and EXTL3 as a substrate depr ivation therapy for heparan sulphate storing mucopolysaccharidoses. (PubMed id 19690583)¹ Kaidonis X....Byers S. (2010)
Drugs, their targets and the nature and number of dru g targets. (PubMed id 17016423)⁷ Imming P....Meyer A. (2006)
Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)¹ Kimura K.... Sugano S. (2006)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 2135	HGNC: 3516	AceView: EXTL2	Ensembl:ENSG00000162694	euGenes: HUgn2135
ECgene: EXTL2	Kegg: 2135	H-InvDB: EXTL2

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for EXTL2	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for EXTL2	Genetics and Cytogenetics in Oncology and Haematology
GGDB	http://riodb.ibase.aist.go.jp/rcmg/ggdb/
Functional Glycomics Gateway - GTase	http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_530

Intellectual Property for EXTL2 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for EXTL2 gene:
Search GeneIP for patents involving EXTL2

GeneCards and IP:
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