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EXTL3 (exostosin like glycosyltransferase 3)

Identity

Alias (NCBI)BOTV
EXTL1L
EXTR1
ISDNA
REGR
RPR
HGNC (Hugo) EXTL3
HGNC Alias symbbotv
REGR
HGNC Alias nameREG receptor
 glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase
HGNC Previous nameexostoses (multiple)-like 3
LocusID (NCBI) 2137
Atlas_Id 40516
Location 8p21.1  [Link to chromosome band 8p21]
Location_base_pair Starts at 28701501 and ends at 28755596 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)
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    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]  ENSG00000012232 [Sequence]  chr8:28701501-28755596 [Contig_View]  EXTL3 [Vega]
ICGC DataPortalENSG00000012232
TCGA cBioPortalEXTL3
AceView (NCBI)EXTL3
Genatlas (Paris)EXTL3
SOURCE (Princeton)EXTL3
Genetics Home Reference (NIH)EXTL3
Genomic and cartography
GoldenPath hg38 (UCSC)EXTL3  -     chr8:28701501-28755596 +  8p21.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EXTL3  -     8p21.1   [Description]    (hg19-Feb_2009)
GoldenPathEXTL3 - 8p21.1 [CytoView hg19]  EXTL3 - 8p21.1 [CytoView hg38]
ImmunoBaseENSG00000012232
Genome Data Viewer NCBIEXTL3 [Mapview hg19]  
OMIM605744   617425   
Gene and transcription
Genbank (Entrez)AB007042 AB011091 AF001690 AF029231 AF083551
RefSeq transcript (Entrez)NM_001440
Consensus coding sequences : CCDS (NCBI)EXTL3
Gene ExpressionEXTL3 [ NCBI-GEO ]   EXTL3 [ EBI - ARRAY_EXPRESS ]   EXTL3 [ SEEK ]   EXTL3 [ MEM ]
Gene Expression Viewer (FireBrowse)EXTL3 [ Firebrowse - Broad ]
GenevisibleExpression of EXTL3 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2137
GTEX Portal (Tissue expression)EXTL3
Human Protein AtlasENSG00000012232-EXTL3 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusO43909
Domains : Interpro (EBI)Exostosin    Exostosin_GT47    GT64    Nucleotide-diphossugar_trans   
Domain families : Pfam (Sanger)Exostosin (PF03016)    Glyco_transf_64 (PF09258)   
Domain families : Pfam (NCBI)pfam03016    pfam09258   
Conserved Domain (NCBI)EXTL3
SuperfamilyO43909
AlphaFold pdb e-kbO43909   
Human Protein Atlas [tissue]ENSG00000012232-EXTL3 [tissue]
HPRD09306
Protein Interaction databases
DIP (DOE-UCLA)O43909
IntAct (EBI)O43909
BioGRIDEXTL3
STRING (EMBL)EXTL3
ZODIACEXTL3
Ontologies - Pathways
QuickGOO43909
Ontology : AmiGOglucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity  protein binding  endoplasmic reticulum  endoplasmic reticulum membrane  Golgi apparatus  Golgi apparatus  protein glycosylation  heparan sulfate proteoglycan biosynthetic process  heparan sulfate proteoglycan biosynthetic process  integral component of membrane  glycosyltransferase activity  glycosyltransferase activity  positive regulation of cell growth  IRE1-mediated unfolded protein response  metal ion binding  
Ontology : EGO-EBIglucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity  protein binding  endoplasmic reticulum  endoplasmic reticulum membrane  Golgi apparatus  Golgi apparatus  protein glycosylation  heparan sulfate proteoglycan biosynthetic process  heparan sulfate proteoglycan biosynthetic process  integral component of membrane  glycosyltransferase activity  glycosyltransferase activity  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
Homologs : HomoloGeneEXTL3
Homology/Alignments : Family Browser (UCSC)EXTL3
Gene fusions - Rearrangements
Fusion : MitelmanEXTL3::SARAF [8p21.1/8p12]  
Fusion : MitelmanNDUFS4::EXTL3 [5q11.2/8p21.1]  
Fusion : QuiverEXTL3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEXTL3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EXTL3
dbVarEXTL3
ClinVarEXTL3
MonarchEXTL3
1000_GenomesEXTL3 
Exome Variant ServerEXTL3
GNOMAD BrowserENSG00000012232
Varsome BrowserEXTL3
ACMGEXTL3 variants
VarityO43909
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]  
Somatic Mutations in Cancer : COSMIC3DEXTL3
Mutations and Diseases : HGMDEXTL3
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaEXTL3
DgiDB (Drug Gene Interaction Database)EXTL3
DoCM (Curated mutations)EXTL3
CIViC (Clinical Interpretations of Variants in Cancer)EXTL3
Cancer3DEXTL3
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605744    617425   
Orphanet
DisGeNETEXTL3
MedgenEXTL3
Genetic Testing Registry EXTL3
NextProtO43909 [Medical]
GENETestsEXTL3
Target ValidationEXTL3
Huge Navigator EXTL3 [HugePedia]
ClinGenEXTL3
Clinical trials, drugs, therapy
MyCancerGenomeEXTL3
Protein Interactions : CTDEXTL3
Pharm GKB GenePA27930
PharosO43909
Clinical trialEXTL3
Miscellaneous
canSAR (ICR)EXTL3
HarmonizomeEXTL3
ARCHS4EXTL3
DataMed IndexEXTL3
Probes
Litterature
PubMed40 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXEXTL3
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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