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Aliases for EXTL2 Gene

Aliases for EXTL2 Gene

  • Exostosin-Like Glycosyltransferase 2 2 3
  • 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 2.4.1.223 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 exostoses and mucopolysaccharidoses. Among its related pathways are Metabolism and heparan sulfate biosynthesis. 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

Genomic Location for EXTL2 Gene

Chromosome:
1
Start:
100,872,372 bp from pter
End:
100,895,998 bp from pter
Size:
23,627 bases
Orientation:
Minus strand

Genomic View for EXTL2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    Q9UBQ6-EXTL2_HUMAN
    Recommended name:
    Exostosin-like 2
    Protein Accession:
    Q9UBQ6
    Secondary Accessions:
    • B2R795
    • D3DT60

    Protein attributes for EXTL2 Gene

    Size:
    330 amino acids
    Molecular mass:
    37466 Da
    Cofactor:
    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

Q9UBQ6

UniProtKB/Swiss-Prot:

EXTL2_HUMAN :
  • Belongs to the glycosyltransferase 47 family.
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
GO:0035248 alpha-1,4-N-acetylgalactosaminyltransferase activity IDA 10318803
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with EXTL2: view

Phenotypes for EXTL2 Gene

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

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for EXTL2

In Situ Assay Products

Flow Cytometry Products

No data available for 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

COMPARTMENTS
Jensen Localization Image for EXTL2 Gene COMPARTMENTS Subcellular localization image for EXTL2 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 4

Gene Ontology (GO) - Cellular Components for EXTL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA 10639137
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0070062 extracellular exosome IDA 23376485
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:0006024 glycosaminoglycan biosynthetic process IEA --
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
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

(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
528-04-1
glucose
heparan sulfate
  • alpha-Idosane
  • Heparan N-sulfate
  • Heparan N-sulphate
  • Heparan sulfate
  • Heparan sulphate
9050-30-0
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:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for EXTL2

Flow Cytometry 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
EXTL2
ECgene alternative splicing isoforms for
EXTL2

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

Q9UBQ6-EXTL2_HUMAN
Tissue specificity: Ubiquitous
genes like me logo Genes that share expression patterns with EXTL2: view

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia EXTL2 35
  • 87.47 (n)
  • 86.97 (a)
EXTL2 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EXTL2 35
  • 89.49 (n)
  • 89.7 (a)
EXTL2 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Extl2 35
  • 83.79 (n)
  • 87.23 (a)
Extl2 16
Extl2 36
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia EXTL2 35
  • 99.7 (n)
  • 99.09 (a)
EXTL2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Extl2 35
  • 83.08 (n)
  • 85.71 (a)
oppossum
(Monodelphis domestica)
Mammalia EXTL2 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EXTL2 36
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves EXTL2 35
  • 74.77 (n)
  • 77.2 (a)
EXTL2 36
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EXTL2 36
  • 80 (a)
OneToOne
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
zebrafish
(Danio rerio)
Actinopterygii extl2 35
  • 62.24 (n)
  • 64.29 (a)
extl2 36
  • 61 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Ext2 36
  • 13 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons EPC1 35
  • 49.01 (n)
  • 36.86 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 25 (a)
ManyToMany
-- 36
  • 2 (a)
ManyToMany
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

ENSEMBL:
Gene Tree for EXTL2 (if available)
TreeFam:
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.org 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 MAF
rs8888 -- 100,872,768(-) CACTA(A/G)GGCAA utr-variant-3-prime, nc-transcript-variant
rs10738 -- 100,872,531(-) GCAGT(A/C/T)AGATT utr-variant-3-prime, nc-transcript-variant
rs754261 -- 100,881,859(-) gatgt(A/G)tagcc intron-variant
rs1040668 -- 100,880,734(+) ATAAA(C/G)AATCA intron-variant
rs376026511 -- 100,877,389(+) AGACG(G/T)TTAAG 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: 62.82% 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)

Relevant External Links for EXTL2 Gene

HapMap Linkage Disequilibrium report
EXTL2

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

Disorders for EXTL2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for EXTL2 Gene - From: DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
hereditary multiple exostoses
  • hereditary multiple exostoses 3
mucopolysaccharidoses
- elite association
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:
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. 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 23 67
  2. 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 23 67
  3. Biosynthesis of heparan sulfate in EXT1-deficient cells. (PMID: 20377530) Okada M. … Kitagawa H. (Biochem. J. 2010) 23 67
  4. Glycogene expression in conjunctiva of patients with dry eye: downregulation of Notch signaling. (PMID: 19011014) Mantelli F. … ArgA1eso P. (Invest. Ophthalmol. Vis. Sci. 2009) 23 67
  5. Hydrogen peroxide as a potential mediator of the transcriptional regulation of heparan sulphate biosynthesis in keratinocytes. (PMID: 18463796) Nakayama F. … Akashi M. (Cell. Mol. Biol. Lett. 2008) 23 67

Products for EXTL2 Gene

Sources for EXTL2 Gene

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