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Aliases for EXTL2 Gene

Aliases for EXTL2 Gene

  • Exostosin Like Glycosyltransferase 2 2 3 5
  • Glucuronyl-Galactosyl-Proteoglycan 4-Alpha-N-Acetylglucosaminyltransferase 3 4
  • Alpha-1,4-N-Acetylhexosaminyltransferase EXTL2 3 4
  • Exostoses (Multiple)-Like 2 2 3
  • EXT-Related Protein 2 3 4
  • Alpha-GalNAcT EXTL2 3 4
  • EXTR2 3 4
  • Alpha-1,4-N-Acteylhexosaminyltransferase 2
  • Processed Exostosin-Like 2 3
  • Exostosin-Like 2 3
  • EC 4

External Ids for EXTL2 Gene

Previous GeneCards Identifiers for EXTL2 Gene

  • GC01M102128
  • GC01M100519
  • GC01M100629
  • GC01M100800
  • GC01M101049
  • GC01M101110
  • GC01M101337
  • GC01M099463

Summaries for EXTL2 Gene

GeneCards Summary for EXTL2 Gene

EXTL2 (Exostosin Like Glycosyltransferase 2) is a Protein Coding gene. Diseases associated with EXTL2 include Hereditary Multiple Osteochondromas. Among its related pathways are heparan sulfate biosynthesis and Metabolism. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring hexosyl groups and alpha-1,4-N-acetylgalactosaminyltransferase activity. An important paralog of this gene is EXTL3.

UniProtKB/Swiss-Prot for EXTL2 Gene

  • 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 Gene

Additional gene information for EXTL2 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EXTL2 Gene

Genomics for EXTL2 Gene

GeneHancer (GH) Regulatory Elements for EXTL2 Gene

Promoters and enhancers for EXTL2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J100893 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 657 +0.3 311 4.3 PKNOX1 SMAD1 FOXA2 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 SLC30A7 EXTL2 ENSG00000273204 GC01M100877 MFSD14A BRI3P1
GH01J101174 Enhancer 0.9 Ensembl ENCODE 12.7 -279.4 -279363 1.8 JUN ZFP64 ZNF140 ZNF266 ZNF697 ZNF213 ZNF680 ZBTB11 ZBTB8A REST S1PR1 BRI3P1 SLC30A7 HNRNPA1P68 EXTL2 ENSG00000235795 ENSG00000252765 GPR88 ENSG00000271578 LOC101928334
GH01J100924 Enhancer 0.9 FANTOM5 ENCODE dbSUPER 11.9 -30.7 -30712 5 CTCF ZNF680 RUNX3 SLC30A7 EXTL2 ENSG00000252765 DPH5 LOC102606465 S1PR1 HNRNPA1P68
GH01J101076 Enhancer 0.6 dbSUPER 12.7 -181.3 -181348 2.4 ZBTB11 ZFP64 MAFG BACH1 ZNF623 ZNF781 ZNF518A ZNF697 MAFF ZNF316 GC01P101078 LOC102606465 EXTL2 DPH5 ENSG00000252765 GC01P101061
GH01J101078 Enhancer 0.6 dbSUPER 12.7 -183.5 -183534 2 ZBTB11 ZFP64 ZNF623 ZNF781 ZNF518A ZNF697 ZNF316 PRDM12 MAFK EMSY GC01P101078 LOC102606465 EXTL2 ENSG00000252765 DPH5 LOC101928370 GC01M101099
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EXTL2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EXTL2 gene promoter:
  • c-Ets-1
  • RFX1
  • GATA-3
  • GATA-2
  • GATA-1
  • AML1a
  • MRF-2
  • FOXJ2 (long isoform)
  • FOXJ2

Genomic Locations for EXTL2 Gene

Genomic Locations for EXTL2 Gene
23,627 bases
Minus strand
23,614 bases
Minus strand

Genomic View for EXTL2 Gene

Genes around EXTL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EXTL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EXTL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EXTL2 Gene

Proteins for EXTL2 Gene

  • Protein details for EXTL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Exostosin-like 2
    Protein Accession:
    Secondary Accessions:
    • B2R795
    • D3DT60

    Protein attributes for EXTL2 Gene

    330 amino acids
    Molecular mass:
    37466 Da
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    No Data Available

neXtProt entry for EXTL2 Gene

Post-translational modifications for EXTL2 Gene

  • The soluble form derives from the membrane form by proteolytic processing.
  • Glycosylation at isoforms=74
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for EXTL2 Gene

Domains & Families for EXTL2 Gene

Gene Families for EXTL2 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for EXTL2 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the glycosyltransferase 47 family.
  • Belongs to the glycosyltransferase 47 family.
genes like me logo Genes that share domains with EXTL2: view

Function for EXTL2 Gene

Molecular function for EXTL2 Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot CatalyticActivity:
UDP-N-acetyl-alpha-D-glucosamine + [protein]-3-O-(beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl)-L-serine = UDP + [protein]-3-O-(alpha-D-GlcNAc-(1->4)-beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl)-L-serine.
GENATLAS Biochemistry:
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 Numbers (IUBMB) for EXTL2 Gene

Phenotypes From GWAS Catalog for EXTL2 Gene

Gene Ontology (GO) - Molecular Function for EXTL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001888 glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity IDA 10318803
GO:0005539 glycosaminoglycan binding IEA --
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0030145 manganese ion binding IEA --
genes like me logo Genes that share ontologies with EXTL2: view
genes like me logo Genes that share phenotypes with EXTL2: view

Animal Models for EXTL2 Gene

MGI Knock Outs for EXTL2:

Animal Model Products

CRISPR Products

miRNA for EXTL2 Gene

miRTarBase miRNAs that target EXTL2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EXTL2

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EXTL2 Gene

Localization for EXTL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EXTL2 Gene

Endoplasmic reticulum membrane; Single-pass type II membrane protein.
Processed exostosin-like 2: Secreted. Note=A soluble form is found in the serum.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EXTL2 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
lysosome 2
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EXTL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005783 endoplasmic reticulum IDA 10639137
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with EXTL2: view

Pathways & Interactions for EXTL2 Gene

genes like me logo Genes that share pathways with EXTL2: view

Pathways by source for EXTL2 Gene

UniProtKB/Swiss-Prot Q9UBQ6-EXTL2_HUMAN

  • Pathway: Glycan metabolism; heparan sulfate biosynthesis.

Interacting Proteins for EXTL2 Gene

Gene Ontology (GO) - Biological Process for EXTL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006044 N-acetylglucosamine metabolic process IDA,IEA 10318803
GO:0015012 heparan sulfate proteoglycan biosynthetic process IEA --
GO:0019276 UDP-N-acetylgalactosamine metabolic process IEA,IDA 10318803
GO:0036498 IRE1-mediated unfolded protein response TAS --
genes like me logo Genes that share ontologies with EXTL2: view

No data available for SIGNOR curated interactions for EXTL2 Gene

Drugs & Compounds for EXTL2 Gene

(4) Drugs for EXTL2 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Uridine 5'-diphosphate Experimental Pharma Target 0
Uridine-Diphosphate-N-Acetylgalactosamine Experimental Pharma Target 0
Uridine-Diphosphate-N-Acetylglucosamine Experimental Pharma Target 0

(2) Additional Compounds for EXTL2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Uridine diphosphate-N-acetylglucosamine
  • (2R,3R,4R,5S,6R)-3-(acetylamino)-4,5-Dihydroxy-6-(hydroxymethyl)tetrahydro-2H-pyran-2-yl [(2R,3S,4R,5R)-5-(2,4-dioxo-3,4-dihydropyrimidin-1(2H)-yl)-3,4-dihydroxytetrahydrofuran-2-yl]methyl dihydrogen diphosphate (non-preferred name)
  • UDP-GlcNAc
  • UDP-N-Acetyl-D-glucosamine
  • UDP-N-Acetylglucosamine
  • URIDINE-diphosphATE-N-acetylglucosamine
genes like me logo Genes that share compounds with EXTL2: view

Transcripts for EXTL2 Gene

Unigene Clusters for EXTL2 Gene

Exostosin-like glycosyltransferase 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EXTL2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for EXTL2 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b
SP1: - - -
SP2: - - - -
SP3: - - - -
SP4: - -
SP5: - - -
SP6: - -
SP7: -
SP8: - - - - -

Relevant External Links for EXTL2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for EXTL2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EXTL2 Gene

Protein differential expression in normal tissues from HIPED for EXTL2 Gene

This gene is overexpressed in Serum (32.3), Cerebrospinal fluid (13.8), and Vitreous humor (9.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for EXTL2 Gene

NURSA nuclear receptor signaling pathways regulating expression of EXTL2 Gene:


SOURCE GeneReport for Unigene cluster for EXTL2 Gene:


mRNA Expression by UniProt/SwissProt for EXTL2 Gene:

Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for EXTL2 Gene

  • Nervous system(4.7)
genes like me logo Genes that share expression patterns with EXTL2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for EXTL2 Gene

Orthologs for EXTL2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for EXTL2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia EXTL2 34 33
  • 99.7 (n)
(Canis familiaris)
Mammalia EXTL2 34 33
  • 89.49 (n)
(Bos Taurus)
Mammalia EXTL2 34 33
  • 87.47 (n)
(Mus musculus)
Mammalia Extl2 16 34 33
  • 83.79 (n)
(Rattus norvegicus)
Mammalia Extl2 33
  • 83.08 (n)
(Ornithorhynchus anatinus)
Mammalia EXTL2 34
  • 83 (a)
(Monodelphis domestica)
Mammalia EXTL2 34
  • 82 (a)
(Gallus gallus)
Aves EXTL2 34 33
  • 74.77 (n)
(Anolis carolinensis)
Reptilia EXTL2 34
  • 80 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia extl2 33
  • 67.35 (n)
Str.8466 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.19970 33
(Danio rerio)
Actinopterygii extl2 34 33
  • 62.24 (n)
fruit fly
(Drosophila melanogaster)
Insecta Ext2 34
  • 13 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons EPC1 33
  • 49.01 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 25 (a)
-- 34
  • 2 (a)
Species where no ortholog for EXTL2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for EXTL2 Gene

Gene Tree for EXTL2 (if available)
Gene Tree for EXTL2 (if available)
Evolutionary constrained regions (ECRs) for EXTL2: view image

Paralogs for EXTL2 Gene

Paralogs for EXTL2 Gene

(2) SIMAP similar genes for EXTL2 Gene using alignment to 9 proteins:

  • O00245_HUMAN
  • Q05DH5_HUMAN
  • Q49A43_HUMAN
  • Q8N8F1_HUMAN Pseudogenes for EXTL2 Gene

genes like me logo Genes that share paralogs with EXTL2: view

Variants for EXTL2 Gene

Sequence variations from dbSNP and Humsavar for EXTL2 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000057002 -- 100,872,452(-) A/T 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs1000065415 -- 100,896,758(-) A/G upstream_transcript_variant
rs1000095794 -- 100,877,000(-) G/C intron_variant
rs1000115193 -- 100,876,671(-) C/T intron_variant, non_coding_transcript_variant
rs1000890729 -- 100,890,305(-) G/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for EXTL2 Gene

Variant ID Type Subtype PubMed ID
nsv522064 CNV gain 19592680

Variation tolerance for EXTL2 Gene

Residual Variation Intolerance Score: 62.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.88; 18.37% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EXTL2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EXTL2 Gene

Disorders for EXTL2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for EXTL2 Gene - From: Novoseek

Disorder Aliases PubMed IDs
hereditary multiple osteochondromas
  • multiple cartilaginous exostoses
- elite association - COSMIC cancer census association via MalaCards
Search EXTL2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for EXTL2

genes like me logo Genes that share disorders with EXTL2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EXTL2 Gene

Publications for EXTL2 Gene

  1. Identification and characterization of a novel member of the EXT gene family, EXTL2. (PMID: 9450183) Wuyts W … Willems PJ (European journal of human genetics : EJHG 1997) 2 3 4 22 58
  2. Two-step mechanism that determines the donor binding specificity of human UDP-N-acetylhexosaminyltransferase. (PMID: 15831490) Sobhany M … Negishi M (The Journal of biological chemistry 2005) 2 3 22 58
  3. Structure, chromosomal location, and expression profile of EXTR1 and EXTR2, new members of the multiple exostoses gene family. (PMID: 9473480) Saito T … Hori T (Biochemical and biophysical research communications 1998) 3 4 22 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate. (PMID: 10639137) McCormick C … Tufaro F (Proceedings of the National Academy of Sciences of the United States of America 2000) 3 4 58

Products for EXTL2 Gene

Sources for EXTL2 Gene

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