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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
  • 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 and Mucopolysaccharidoses. Among its related pathways are heparan sulfate biosynthesis and Metabolism. 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 EXT2.

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

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

Genomics for EXTL2 Gene

Regulatory Elements for EXTL2 Gene

Enhancers for EXTL2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around EXTL2 on UCSC Golden Path with GeneCards custom track

Promoters for EXTL2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around EXTL2 on UCSC Golden Path with GeneCards custom track

Genomic Location for EXTL2 Gene

100,872,372 bp from pter
100,895,998 bp from pter
23,627 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

Proteomics data for EXTL2 Gene at MOPED

Post-translational modifications for EXTL2 Gene

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

Antibody Products

  • R&D Systems Antibodies for EXTL2 (Exostosin-like 2/EXTL2)

No data available for DME Specific Peptides for EXTL2 Gene

Domains & Families for EXTL2 Gene

Gene Families for EXTL2 Gene

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

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
UniProtKB/Swiss-Prot CatalyticActivity:
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.
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.

Enzyme Numbers (IUBMB) 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
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

miRNA for EXTL2 Gene

miRTarBase miRNAs that target EXTL2

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

Jensen Localization Image for EXTL2 Gene COMPARTMENTS Subcellular localization image for EXTL2 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 5
lysosome 2
vacuole 2
golgi apparatus 1

No data available for Gene Ontology (GO) - Cellular Components for EXTL2 Gene

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


No data available for SIGNOR curated interactions for EXTL2 Gene

Drugs & Compounds for EXTL2 Gene

(3) Drugs for EXTL2 Gene - From: DrugBank and HMDB

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

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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
  • UDP-a-D-N-Acetylglucosamine
  • UDP-Acetyl-D-glucosamine
  • UDP-Acetyl-delta-glucosamine
  • UDP-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:

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 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

SOURCE GeneReport for Unigene cluster for EXTL2 Gene Hs.357637

mRNA Expression by UniProt/SwissProt for EXTL2 Gene

Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with EXTL2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners 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
(Bos Taurus)
Mammalia EXTL2 35
  • 87.47 (n)
  • 86.97 (a)
EXTL2 36
  • 87 (a)
(Canis familiaris)
Mammalia EXTL2 35
  • 89.49 (n)
  • 89.7 (a)
EXTL2 36
  • 90 (a)
(Mus musculus)
Mammalia Extl2 35
  • 83.79 (n)
  • 87.23 (a)
Extl2 16
Extl2 36
  • 87 (a)
(Pan troglodytes)
Mammalia EXTL2 35
  • 99.7 (n)
  • 99.09 (a)
EXTL2 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Extl2 35
  • 83.08 (n)
  • 85.71 (a)
(Monodelphis domestica)
Mammalia EXTL2 36
  • 82 (a)
(Ornithorhynchus anatinus)
Mammalia EXTL2 36
  • 83 (a)
(Gallus gallus)
Aves EXTL2 35
  • 74.77 (n)
  • 77.2 (a)
EXTL2 36
  • 77 (a)
(Anolis carolinensis)
Reptilia EXTL2 36
  • 80 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia extl2 35
  • 67.35 (n)
  • 69.05 (a)
Str.8466 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.19970 35
(Danio rerio)
Actinopterygii extl2 35
  • 62.24 (n)
  • 64.29 (a)
extl2 36
  • 61 (a)
fruit fly
(Drosophila melanogaster)
Insecta Ext2 36
  • 13 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons EPC1 35
  • 49.01 (n)
  • 36.86 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 25 (a)
-- 36
  • 2 (a)
Species with no ortholog for EXTL2:
  • 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)

Paralogs for EXTL2 Gene

Paralogs for EXTL2 Gene

(2) SIMAP similar genes for EXTL2 Gene using alignment to 9 proteins: 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 Sequence Context AA Info Type
rs8888 -- 100,872,768(-) CACTA(A/G)GGCAA nc-transcript-variant, utr-variant-3-prime
rs10738 -- 100,872,531(-) GCAGT(A/C/T)AGATT nc-transcript-variant, utr-variant-3-prime
rs754261 -- 100,881,859(-) gatgt(A/G)tagcc intron-variant
rs1040668 -- 100,880,734(+) ATAAA(C/G)AATCA intron-variant
rs2295280 -- 100,876,941(-) TCTAT(A/G)TAGAC 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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for EXTL2 Gene

Disorders for EXTL2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for EXTL2 Gene - From: Novoseek and GeneCards

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

Relevant External Links for EXTL2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 P.J. (Eur. J. Hum. Genet. 1997) 2 3 4 23 67
  2. Two-step mechanism that determines the donor binding specificity of human UDP-N-acetylhexosaminyltransferase. (PMID: 15831490) Sobhany M. … Negishi M. (J. Biol. Chem. 2005) 2 3 23
  3. Drugs, their targets and the nature and number of drug targets. (PMID: 17016423) Imming P. … Meyer A. (Nat Rev Drug Discov 2006) 25 26
  4. How many drug targets are there? (PMID: 17139284) Overington J.P. … Hopkins A.L. (Nat Rev Drug Discov 2006) 25 26
  5. The Protein Data Bank. (PMID: 10592235) Berman H.M. … Bourne P.E. (Nucleic Acids Res. 2000) 25 26

Products for EXTL2 Gene

Sources for EXTL2 Gene