Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

EXTL2 (exostosin like glycosyltransferase 2)

Identity

Alias_names4-N-acteylhexosaminyltransferase
Other aliasEXTR2
HGNC (Hugo) EXTL2
LocusID (NCBI) 2135
Atlas_Id 40515
Location 1p21.2  [Link to chromosome band 1p21]
Location_base_pair Starts at 100872372 and ends at 100895179 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
EXTL2 (1p21.2) / MAX (14q23.3)FTH1 (11q12.3) / EXTL2 (1p21.2)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)EXTL2   3516
Cards
Entrez_Gene (NCBI)EXTL2  2135  exostosin like glycosyltransferase 2
AliasesEXTR2
GeneCards (Weizmann)EXTL2
Ensembl hg19 (Hinxton)ENSG00000162694 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000162694 [Gene_View]  chr1:100872372-100895179 [Contig_View]  EXTL2 [Vega]
ICGC DataPortalENSG00000162694
TCGA cBioPortalEXTL2
AceView (NCBI)EXTL2
Genatlas (Paris)EXTL2
WikiGenes2135
SOURCE (Princeton)EXTL2
Genetics Home Reference (NIH)EXTL2
Genomic and cartography
GoldenPath hg38 (UCSC)EXTL2  -     chr1:100872372-100895179 -  1p21.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EXTL2  -     1p21.2   [Description]    (hg19-Feb_2009)
EnsemblEXTL2 - 1p21.2 [CytoView hg19]  EXTL2 - 1p21.2 [CytoView hg38]
Mapping of homologs : NCBIEXTL2 [Mapview hg19]  EXTL2 [Mapview hg38]
OMIM602411   
Gene and transcription
Genbank (Entrez)AB009284 AF000416 AK001450 AK096914 AK298124
RefSeq transcript (Entrez)NM_001033025 NM_001261440 NM_001261441 NM_001261442 NM_001439
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EXTL2
Cluster EST : UnigeneHs.357637 [ NCBI ]
CGAP (NCI)Hs.357637
Alternative Splicing GalleryENSG00000162694
Gene ExpressionEXTL2 [ NCBI-GEO ]   EXTL2 [ EBI - ARRAY_EXPRESS ]   EXTL2 [ SEEK ]   EXTL2 [ MEM ]
Gene Expression Viewer (FireBrowse)EXTL2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2135
GTEX Portal (Tissue expression)EXTL2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UBQ6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UBQ6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UBQ6
Splice isoforms : SwissVarQ9UBQ6
PhosPhoSitePlusQ9UBQ6
Domains : Interpro (EBI)EXT_C    Nucleotide-diphossugar_trans   
Domain families : Pfam (Sanger)Glyco_transf_64 (PF09258)   
Domain families : Pfam (NCBI)pfam09258   
Conserved Domain (NCBI)EXTL2
DMDM Disease mutations2135
Blocks (Seattle)EXTL2
SuperfamilyQ9UBQ6
Human Protein AtlasENSG00000162694
Peptide AtlasQ9UBQ6
HPRD03876
IPIIPI00640273   IPI00002732   IPI00641761   
Protein Interaction databases
DIP (DOE-UCLA)Q9UBQ6
IntAct (EBI)Q9UBQ6
FunCoupENSG00000162694
BioGRIDEXTL2
STRING (EMBL)EXTL2
ZODIACEXTL2
Ontologies - Pathways
QuickGOQ9UBQ6
Ontology : AmiGOglucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity  glycosaminoglycan binding  endoplasmic reticulum  endoplasmic reticulum membrane  glycosaminoglycan biosynthetic process  N-acetylglucosamine metabolic process  heparan sulfate proteoglycan biosynthetic process  integral component of membrane  UDP-N-acetylgalactosamine metabolic process  manganese ion binding  alpha-1,4-N-acetylgalactosaminyltransferase activity  glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity  extracellular exosome  
Ontology : EGO-EBIglucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity  glycosaminoglycan binding  endoplasmic reticulum  endoplasmic reticulum membrane  glycosaminoglycan biosynthetic process  N-acetylglucosamine metabolic process  heparan sulfate proteoglycan biosynthetic process  integral component of membrane  UDP-N-acetylgalactosamine metabolic process  manganese ion binding  alpha-1,4-N-acetylgalactosaminyltransferase activity  glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity  extracellular exosome  
Pathways : KEGGGlycosaminoglycan biosynthesis - heparan sulfate / heparin   
NDEx NetworkEXTL2
Atlas of Cancer Signalling NetworkEXTL2
Wikipedia pathwaysEXTL2
Orthology - Evolution
OrthoDB2135
GeneTree (enSembl)ENSG00000162694
Phylogenetic Trees/Animal Genes : TreeFamEXTL2
HOVERGENQ9UBQ6
HOGENOMQ9UBQ6
Homologs : HomoloGeneEXTL2
Homology/Alignments : Family Browser (UCSC)EXTL2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEXTL2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EXTL2
dbVarEXTL2
ClinVarEXTL2
1000_GenomesEXTL2 
Exome Variant ServerEXTL2
ExAC (Exome Aggregation Consortium)EXTL2 (select the gene name)
Genetic variants : HAPMAP2135
Genomic Variants (DGV)EXTL2 [DGVbeta]
DECIPHEREXTL2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEXTL2 
Mutations
ICGC Data PortalEXTL2 
TCGA Data PortalEXTL2 
Broad Tumor PortalEXTL2
OASIS PortalEXTL2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEXTL2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEXTL2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch EXTL2
DgiDB (Drug Gene Interaction Database)EXTL2
DoCM (Curated mutations)EXTL2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EXTL2 (select a term)
intoGenEXTL2
Cancer3DEXTL2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602411   
Orphanet
MedgenEXTL2
Genetic Testing Registry EXTL2
NextProtQ9UBQ6 [Medical]
TSGene2135
GENETestsEXTL2
Target ValidationEXTL2
Huge Navigator EXTL2 [HugePedia]
snp3D : Map Gene to Disease2135
BioCentury BCIQEXTL2
ClinGenEXTL2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2135
Chemical/Pharm GKB GenePA27928
Clinical trialEXTL2
Miscellaneous
canSAR (ICR)EXTL2 (select the gene name)
Probes
Litterature
PubMed16 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEXTL2
EVEXEXTL2
GoPubMedEXTL2
iHOPEXTL2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 18 13:52:54 CEST 2017

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.