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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
  • Exostosin-Like 2 3
  • EC 2.4.1.223 4

External Ids for EXTL2 Gene

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 exostosis. Among its related pathways are Metabolism and heparan sulfate biosynthesis. GO annotations related to this gene include glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity 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

Genomic Location for EXTL2 Gene

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

Regulatory Elements 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

No data available for DME Specific Peptides for EXTL2 Gene

Domains for EXTL2 Gene

Gene Families for EXTL2 Gene

HGNC:
  • EXT :Exostosin glycosyltransferase family

Protein Domains for EXTL2 Gene

UniProtKB/Swiss-Prot:

EXTL2_HUMAN
Family:
  • Belongs to the glycosyltransferase 47 family.:
    • Q9UBQ6
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:0016758 transferase activity, transferring hexosyl groups --
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

MGI mutant phenotypes for EXTL2:
inferred from 1 alleles
GenomeRNAi human phenotypes for EXTL2:
genes like me logo Genes that share phenotypes with EXTL2: view

Animal Models for EXTL2 Gene

MGI Knock Outs for EXTL2:

miRNA for EXTL2 Gene

miRTarBase miRNAs that target EXTL2

No data available for Transcription Factor Targeting 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
endoplasmic reticulum 5
extracellular 5
golgi apparatus 1
lysosome 1

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:0031227 intrinsic component of endoplasmic reticulum membrane --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with EXTL2: view

Pathways 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:0008152 metabolic process --
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

Compounds for EXTL2 Gene

(2) HMDB Compounds for EXTL2 Gene

Compound Synonyms Cas Number PubMed IDs
Uridine 5'-diphosphate
  • 5'-UDP
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
528-04-1

(3) Drugbank Compounds for EXTL2 Gene

(2) Novoseek inferred chemical compound relationships for EXTL2 Gene

Compound -log(P) Hits PubMed IDs
heparan sulfate 80 6
glucose 0 2
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
EXTL2
ECgene alternative splicing isoforms for
EXTL2

Expression for EXTL2 Gene

mRNA expression in normal human tissues for EXTL2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression 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 expressions with EXTL2: view

Orthologs for EXTL2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for EXTL2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EXTL2 36
  • 99.7 (n)
  • 99.09 (a)
EXTL2 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia EXTL2 36
  • 87.47 (n)
  • 86.97 (a)
EXTL2 37
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EXTL2 36
  • 89.49 (n)
  • 89.7 (a)
EXTL2 37
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Extl2 36
  • 83.79 (n)
  • 87.23 (a)
Extl2 16
Extl2 37
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EXTL2 37
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EXTL2 37
  • 83 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Extl2 36
  • 83.08 (n)
  • 85.71 (a)
chicken
(Gallus gallus)
Aves EXTL2 36
  • 74.77 (n)
  • 77.2 (a)
EXTL2 37
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EXTL2 37
  • 80 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.19970 36
tropical clawed frog
(Silurana tropicalis)
Amphibia extl2 36
  • 67.35 (n)
  • 69.05 (a)
Str.8466 36
zebrafish
(Danio rerio)
Actinopterygii extl2 36
  • 62.24 (n)
  • 64.29 (a)
extl2 37
  • 61 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Ext2 37
  • 13 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons EPC1 36
  • 49.01 (n)
  • 36.86 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 25 (a)
ManyToMany
-- 37
  • 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

Selected 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)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
rs2038348 -- 100,881,121(+) TCATG(A/T)GGTAT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv522064 CNV Gain 19592680

Relevant External Links for EXTL2 Gene

HapMap Linkage Disequilibrium report
EXTL2

Disorders for EXTL2 Gene

(1) University of Copenhagen DISEASES for EXTL2 Gene

(2) Novoseek inferred disease relationships for EXTL2 Gene

Disease -log(P) Hits PubMed IDs
exostoses multiple hereditary 93.2 3
tumors 6.59 3
genes like me logo Genes that share disorders with EXTL2: view

No data available for UniProtKB/Swiss-Prot 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
  2. Structure, chromosomal location, and expression profile of EXTR1 and EXTR2, new members of the multiple exostoses gene family. (PMID: 9473480) Saito T. … Hori T.-A. (Biochem. Biophys. Res. Commun. 1998) 3 4 23
  3. 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
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. 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. (PMID: 10318803) Kitagawa H. … Sugahara K. (J. Biol. Chem. 1999) 3 4

Products for EXTL2 Gene

Sources for EXTL2 Gene

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