Human Gene EXTL2 (uc001dtk.1) Description and Page Index
  Description: multiple exostoses-like 2
Transcript (Including UTRs)
   Position: hg18 chr1:101,110,529-101,133,006 Size: 22,478 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg18 chr1:101,112,086-101,126,901 Size: 14,816 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsCTDMicroarray ExpressionRNA Structure
Protein StructureOther SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther Names
Model InformationMethods
Data last updated at UCSC: 2009-03-03

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:101,110,529-101,133,006)mRNA (may differ from genome)Protein (330 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDMGIOMIM
PubMedReactomeTreefamUniProtKB

-  Comments and Description Text from UniProtKB
  ID: EXTL2_HUMAN
DESCRIPTION: RecName: Full=Exostosin-like 2; EC=2.4.1.223; AltName: Full=Alpha-1,4-N-acetylhexosaminyltransferase EXTL2; AltName: Full=Alpha-GalNAcT EXTL2; AltName: Full=EXT-related protein 2; AltName: Full=Glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase; Contains: RecName: Full=Processed exostosin-like 2;
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.
PATHWAY: Glycan metabolism; heparan sulfate biosynthesis.
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.
TISSUE SPECIFICITY: Ubiquitous.
PTM: The soluble form derives from the membrane form by proteolytic processing.
SIMILARITY: Belongs to the glycosyltransferase 47 family.
WEB RESOURCE: Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/";
WEB RESOURCE: Name=Functional Glycomics Gateway - GTase; Note=Exostosin-like 2; URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_530";

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  Microarray Expression Data
 
Expression ratio colors:

GNF Expression Atlas 2 Data from U133A and GNF1H Chips

      
      
      
     
    
     
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Affymetrix All Exon Microarrays

           
Ratios

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -92.30337-0.274 Picture PostScript Text
3' UTR -388.411557-0.249 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR015338 - HexNAc_Trfase_a

Pfam Domains:
PF09258 - EXTL2, alpha-1,4-N-acetylhexosaminyltransferase

SCOP Domains:
53448 - Nucleotide-diphospho-sugar transferases

ModBase Predicted Comparative 3D Structure on Q9UBQ6
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001888 glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity
GO:0005539 glycosaminoglycan binding
GO:0016740 transferase activity
GO:0016757 transferase activity, transferring glycosyl groups
GO:0030145 manganese ion binding
GO:0035248 alpha-1,4-N-acetylgalactosaminyltransferase activity
GO:0046872 metal ion binding
GO:0047237 glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity

Biological Process:
GO:0006044 N-acetylglucosamine metabolic process
GO:0015012 heparan sulfate proteoglycan biosynthetic process
GO:0019276 UDP-N-acetylgalactosamine metabolic process
GO:0036498 IRE1-mediated unfolded protein response

Cellular Component:
GO:0005576 extracellular region
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  BC036015 - Homo sapiens exostoses (multiple)-like 2, mRNA (cDNA clone MGC:32939 IMAGE:5273246), complete cds.
AF000416 - Homo sapiens EXT-like protein 2 (EXTL2) mRNA, complete cds.
BC001649 - Homo sapiens mRNA similar to trinucleotide repeat containing 11 (THR-associated protein, 230 kDa subunit) (cDNA clone IMAGE:2961081).
BC001835 - Homo sapiens mRNA similar to trinucleotide repeat containing 11 (THR-associated protein, 230 kDa subunit) (cDNA clone IMAGE:2961081).
BC008722 - Homo sapiens exostoses (multiple)-like 2, mRNA (cDNA clone IMAGE:2961081), **** WARNING: chimeric clone ****.
BC045681 - Homo sapiens exostoses (multiple)-like 2, mRNA (cDNA clone MGC:44576 IMAGE:5300220), complete cds.
AK001450 - Homo sapiens cDNA FLJ10588 fis, clone NT2RP2004316, highly similar to Homo sapiens EXT-like protein 2 mRNA.
AK096914 - Homo sapiens cDNA FLJ39595 fis, clone SKNSH2001931, highly similar to Exostoses.
AK298124 - Homo sapiens cDNA FLJ57132 complete cds, highly similar to Exostosin-like 2 (EC 2.4.1.223).
AB009284 - Homo sapiens EXTR2 mRNA, complete cds.
U76189 - Homo sapiens EXTL2 (EXTL2) mRNA, partial cds.
AK312895 - Homo sapiens cDNA, FLJ93340, Homo sapiens exostoses (multiple)-like 2 (EXTL2), mRNA.
BC014910 - Homo sapiens exostoses (multiple)-like 2, mRNA (cDNA clone IMAGE:3920891), partial cds.
JD550790 - Sequence 531814 from Patent EP1572962.
JD494289 - Sequence 475313 from Patent EP1572962.
JD434212 - Sequence 415236 from Patent EP1572962.
JD342742 - Sequence 323766 from Patent EP1572962.
JD254155 - Sequence 235179 from Patent EP1572962.
JD042034 - Sequence 23058 from Patent EP1572962.
JD296919 - Sequence 277943 from Patent EP1572962.
JD046693 - Sequence 27717 from Patent EP1572962.
JD315627 - Sequence 296651 from Patent EP1572962.
JD262877 - Sequence 243901 from Patent EP1572962.
JD265280 - Sequence 246304 from Patent EP1572962.
JD093231 - Sequence 74255 from Patent EP1572962.
JD291827 - Sequence 272851 from Patent EP1572962.
JD036360 - Sequence 17384 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00534 - Glycosaminoglycan biosynthesis - heparan sulfate

Reactome (by CSHL, EBI, and GO)

Protein Q9UBQ6 (Reactome details) participates in the following event(s):

R-HSA-381038 XBP1(S) activates chaperone genes
R-HSA-381070 IRE1alpha activates chaperones
R-HSA-381119 Unfolded Protein Response (UPR)
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: EXTL2_HUMAN, EXTR2, NM_001439, NP_001430, Q9UBQ6
UCSC ID: uc001dtk.1
RefSeq Accession: NM_001439
Protein: Q9UBQ6 (aka EXTL2_HUMAN or EXL2_HUMAN)
CCDS: CCDS775.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001439.2
exon count: 5CDS single in 3' UTR: no RNA size: 2905
ORF size: 993CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2038.50frame shift in genome: no % Coverage: 99.38
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.