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EXTL2 (exostosin like glycosyltransferase 2)

Identity

Alias (NCBI)EXTR2
HGNC (Hugo) EXTL2
HGNC Alias namealpha-1,4-N-acteylhexosaminyltransferase
HGNC Previous nameexostoses (multiple)-like 2
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 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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    exostosin like glycosyltransferase 2
AliasesEXTR2
GeneCards (Weizmann)EXTL2
Ensembl hg19 (Hinxton)ENSG00000162694 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000162694 [Gene_View]  ENSG00000162694 [Sequence]  chr1:100872372-100895179 [Contig_View]  EXTL2 [Vega]
ICGC DataPortalENSG00000162694
TCGA cBioPortalEXTL2
AceView (NCBI)EXTL2
Genatlas (Paris)EXTL2
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)
GoldenPathEXTL2 - 1p21.2 [CytoView hg19]  EXTL2 - 1p21.2 [CytoView hg38]
ImmunoBaseENSG00000162694
Genome Data Viewer NCBIEXTL2 [Mapview hg19]  
OMIM602411   
Gene and transcription
Genbank (Entrez)AB009284 AF000416 AK001450 AK096914 AK298124
RefSeq transcript (Entrez)NM_001033025 NM_001261440 NM_001261441 NM_001261442 NM_001439
Consensus coding sequences : CCDS (NCBI)EXTL2
Gene ExpressionEXTL2 [ NCBI-GEO ]   EXTL2 [ EBI - ARRAY_EXPRESS ]   EXTL2 [ SEEK ]   EXTL2 [ MEM ]
Gene Expression Viewer (FireBrowse)EXTL2 [ Firebrowse - Broad ]
GenevisibleExpression of EXTL2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2135
GTEX Portal (Tissue expression)EXTL2
Human Protein AtlasENSG00000162694-EXTL2 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ9UBQ6
Domains : Interpro (EBI)Exostosin    GT64    Nucleotide-diphossugar_trans   
Domain families : Pfam (Sanger)Glyco_transf_64 (PF09258)   
Domain families : Pfam (NCBI)pfam09258   
Conserved Domain (NCBI)EXTL2
SuperfamilyQ9UBQ6
AlphaFold pdb e-kbQ9UBQ6   
Human Protein Atlas [tissue]ENSG00000162694-EXTL2 [tissue]
HPRD03876
Protein Interaction databases
DIP (DOE-UCLA)Q9UBQ6
IntAct (EBI)Q9UBQ6
BioGRIDEXTL2
STRING (EMBL)EXTL2
ZODIACEXTL2
Ontologies - Pathways
QuickGOQ9UBQ6
Ontology : AmiGOglucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity  protein binding  glycosaminoglycan binding  extracellular region  nucleoplasm  endoplasmic reticulum  endoplasmic reticulum membrane  cytosol  N-acetylglucosamine metabolic process  protein glycosylation  heparan sulfate proteoglycan biosynthetic process  integral component of membrane  UDP-N-acetylgalactosamine metabolic process  manganese ion binding  alpha-1,4-N-acetylgalactosaminyltransferase activity  IRE1-mediated unfolded protein response  glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity  
Ontology : EGO-EBIglucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity  protein binding  glycosaminoglycan binding  extracellular region  nucleoplasm  endoplasmic reticulum  endoplasmic reticulum membrane  cytosol  N-acetylglucosamine metabolic process  protein glycosylation  heparan sulfate proteoglycan biosynthetic process  integral component of membrane  UDP-N-acetylgalactosamine metabolic process  manganese ion binding  alpha-1,4-N-acetylgalactosaminyltransferase activity  IRE1-mediated unfolded protein response  glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity  
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
Homologs : HomoloGeneEXTL2
Homology/Alignments : Family Browser (UCSC)EXTL2
Gene fusions - Rearrangements
Fusion : QuiverEXTL2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEXTL2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EXTL2
dbVarEXTL2
ClinVarEXTL2
MonarchEXTL2
1000_GenomesEXTL2 
Exome Variant ServerEXTL2
GNOMAD BrowserENSG00000162694
Varsome BrowserEXTL2
ACMGEXTL2 variants
VarityQ9UBQ6
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]  
Somatic Mutations in Cancer : COSMIC3DEXTL2
Mutations and Diseases : HGMDEXTL2
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaEXTL2
DgiDB (Drug Gene Interaction Database)EXTL2
DoCM (Curated mutations)EXTL2
CIViC (Clinical Interpretations of Variants in Cancer)EXTL2
Cancer3DEXTL2
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602411   
Orphanet
DisGeNETEXTL2
MedgenEXTL2
Genetic Testing Registry EXTL2
NextProtQ9UBQ6 [Medical]
GENETestsEXTL2
Target ValidationEXTL2
Huge Navigator EXTL2 [HugePedia]
ClinGenEXTL2
Clinical trials, drugs, therapy
MyCancerGenomeEXTL2
Protein Interactions : CTDEXTL2
Pharm GKB GenePA27928
PharosQ9UBQ6
Clinical trialEXTL2
Miscellaneous
canSAR (ICR)EXTL2
HarmonizomeEXTL2
ARCHS4EXTL2
DataMed IndexEXTL2
Probes
Litterature
PubMed22 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXEXTL2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Mon Jan 17 15:23:49 CET 2022

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