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EXTL3 (exostosin like glycosyltransferase 3)

Identity

Alias_namesexostoses (multiple)-like 3
Alias_symbol (synonym)botv
REGR
Other aliasBOTV
EXTL1L
EXTR1
ISDNA
RPR
HGNC (Hugo) EXTL3
LocusID (NCBI) 2137
Atlas_Id 40516
Location 8p21.1  [Link to chromosome band 8p21]
Location_base_pair Starts at 28701473 and ends at 28753690 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
EXTL3 (8p21.1) / SARAF (8p12)NDUFS4 (5q11.2) / EXTL3 (8p21.1)EXTL3 8p21.1 TMEM66
NDUFS4 5q11.2 / EXTL3 8p21.1

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)EXTL3   3518
Cards
Entrez_Gene (NCBI)EXTL3  2137  exostosin like glycosyltransferase 3
AliasesBOTV; EXTL1L; EXTR1; ISDNA; 
REGR; RPR
GeneCards (Weizmann)EXTL3
Ensembl hg19 (Hinxton)ENSG00000012232 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000012232 [Gene_View]  chr8:28701473-28753690 [Contig_View]  EXTL3 [Vega]
ICGC DataPortalENSG00000012232
TCGA cBioPortalEXTL3
AceView (NCBI)EXTL3
Genatlas (Paris)EXTL3
WikiGenes2137
SOURCE (Princeton)EXTL3
Genetics Home Reference (NIH)EXTL3
Genomic and cartography
GoldenPath hg38 (UCSC)EXTL3  -     chr8:28701473-28753690 +  8p21.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EXTL3  -     8p21.1   [Description]    (hg19-Feb_2009)
EnsemblEXTL3 - 8p21.1 [CytoView hg19]  EXTL3 - 8p21.1 [CytoView hg38]
Mapping of homologs : NCBIEXTL3 [Mapview hg19]  EXTL3 [Mapview hg38]
OMIM605744   617425   
Gene and transcription
Genbank (Entrez)AB007042 AB011091 AF001690 AF029231 AF083551
RefSeq transcript (Entrez)NM_001440
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EXTL3
Cluster EST : UnigeneHs.744019 [ NCBI ]
CGAP (NCI)Hs.744019
Alternative Splicing GalleryENSG00000012232
Gene ExpressionEXTL3 [ NCBI-GEO ]   EXTL3 [ EBI - ARRAY_EXPRESS ]   EXTL3 [ SEEK ]   EXTL3 [ MEM ]
Gene Expression Viewer (FireBrowse)EXTL3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2137
GTEX Portal (Tissue expression)EXTL3
Protein : pattern, domain, 3D structure
UniProt/SwissProtO43909   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO43909  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO43909
Splice isoforms : SwissVarO43909
Catalytic activity : Enzyme2.4.1.223 [ Enzyme-Expasy ]   2.4.1.2232.4.1.223 [ IntEnz-EBI ]   2.4.1.223 [ BRENDA ]   2.4.1.223 [ KEGG ]   
PhosPhoSitePlusO43909
Domains : Interpro (EBI)Exostosin    EXT_C    Nucleotide-diphossugar_trans   
Domain families : Pfam (Sanger)Exostosin (PF03016)    Glyco_transf_64 (PF09258)   
Domain families : Pfam (NCBI)pfam03016    pfam09258   
Conserved Domain (NCBI)EXTL3
DMDM Disease mutations2137
Blocks (Seattle)EXTL3
SuperfamilyO43909
Human Protein AtlasENSG00000012232
Peptide AtlasO43909
HPRD09306
IPIIPI00015135   IPI00983840   IPI00974414   IPI00982003   IPI00983305   IPI00985130   
Protein Interaction databases
DIP (DOE-UCLA)O43909
IntAct (EBI)O43909
FunCoupENSG00000012232
BioGRIDEXTL3
STRING (EMBL)EXTL3
ZODIACEXTL3
Ontologies - Pathways
QuickGOO43909
Ontology : AmiGOglucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity  receptor activity  endoplasmic reticulum  endoplasmic reticulum membrane  glycosaminoglycan biosynthetic process  heparan sulfate proteoglycan biosynthetic process  integral component of membrane  positive regulation of cell growth  IRE1-mediated unfolded protein response  metal ion binding  
Ontology : EGO-EBIglucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity  receptor activity  endoplasmic reticulum  endoplasmic reticulum membrane  glycosaminoglycan biosynthetic process  heparan sulfate proteoglycan biosynthetic process  integral component of membrane  positive regulation of cell growth  IRE1-mediated unfolded protein response  metal ion binding  
Pathways : KEGGGlycosaminoglycan biosynthesis - heparan sulfate / heparin   
NDEx NetworkEXTL3
Atlas of Cancer Signalling NetworkEXTL3
Wikipedia pathwaysEXTL3
Orthology - Evolution
OrthoDB2137
GeneTree (enSembl)ENSG00000012232
Phylogenetic Trees/Animal Genes : TreeFamEXTL3
HOVERGENO43909
HOGENOMO43909
Homologs : HomoloGeneEXTL3
Homology/Alignments : Family Browser (UCSC)EXTL3
Gene fusions - Rearrangements
Fusion : MitelmanEXTL3/SARAF [8p21.1/8p12]  
Fusion : MitelmanNDUFS4/EXTL3 [5q11.2/8p21.1]  [t(5;8)(q11;p21)]  
Fusion: TCGAEXTL3 8p21.1 TMEM66 BRCA
Fusion: TCGANDUFS4 5q11.2 EXTL3 8p21.1 LUSC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEXTL3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EXTL3
dbVarEXTL3
ClinVarEXTL3
1000_GenomesEXTL3 
Exome Variant ServerEXTL3
ExAC (Exome Aggregation Consortium)EXTL3 (select the gene name)
Genetic variants : HAPMAP2137
Genomic Variants (DGV)EXTL3 [DGVbeta]
DECIPHEREXTL3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEXTL3 
Mutations
ICGC Data PortalEXTL3 
TCGA Data PortalEXTL3 
Broad Tumor PortalEXTL3
OASIS PortalEXTL3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEXTL3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEXTL3
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch EXTL3
DgiDB (Drug Gene Interaction Database)EXTL3
DoCM (Curated mutations)EXTL3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EXTL3 (select a term)
intoGenEXTL3
Cancer3DEXTL3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605744    617425   
Orphanet
MedgenEXTL3
Genetic Testing Registry EXTL3
NextProtO43909 [Medical]
TSGene2137
GENETestsEXTL3
Target ValidationEXTL3
Huge Navigator EXTL3 [HugePedia]
snp3D : Map Gene to Disease2137
BioCentury BCIQEXTL3
ClinGenEXTL3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2137
Chemical/Pharm GKB GenePA27930
Clinical trialEXTL3
Miscellaneous
canSAR (ICR)EXTL3 (select the gene name)
Probes
Litterature
PubMed26 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEXTL3
EVEXEXTL3
GoPubMedEXTL3
iHOPEXTL3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:33:05 CEST 2017

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