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TBL2 (transducin beta like 2)

Identity

Alias (NCBI)WBSCR13
WS-betaTRP
HGNC (Hugo) TBL2
HGNC Alias symbWS-betaTRP
WBSCR13
DKFZP43N024
HGNC Alias nameWilliams-Beuren syndrome chromosome region 13
HGNC Previous nametransducin (beta)-like 2
LocusID (NCBI) 26608
Atlas_Id 53603
Location 7q11.23  [Link to chromosome band 7q11]
Location_base_pair Starts at 73567538 and ends at 73578579 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)

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)TBL2   11586
Cards
Entrez_Gene (NCBI)TBL2    transducin beta like 2
AliasesWBSCR13; WS-betaTRP
GeneCards (Weizmann)TBL2
Ensembl hg19 (Hinxton)ENSG00000106638 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000106638 [Gene_View]  ENSG00000106638 [Sequence]  chr7:73567538-73578579 [Contig_View]  TBL2 [Vega]
ICGC DataPortalENSG00000106638
TCGA cBioPortalTBL2
AceView (NCBI)TBL2
Genatlas (Paris)TBL2
SOURCE (Princeton)TBL2
Genetics Home Reference (NIH)TBL2
Genomic and cartography
GoldenPath hg38 (UCSC)TBL2  -     chr7:73567538-73578579 -  7q11.23   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TBL2  -     7q11.23   [Description]    (hg19-Feb_2009)
GoldenPathTBL2 - 7q11.23 [CytoView hg19]  TBL2 - 7q11.23 [CytoView hg38]
ImmunoBaseENSG00000106638
Genome Data Viewer NCBITBL2 [Mapview hg19]  
OMIM605842   
Gene and transcription
Genbank (Entrez)AF056183 AF097484 AK000536 AK026529 AK074619
RefSeq transcript (Entrez)NM_001362660 NM_001362661 NM_001362662 NM_001362663 NM_012453 NM_032988
Consensus coding sequences : CCDS (NCBI)TBL2
Gene ExpressionTBL2 [ NCBI-GEO ]   TBL2 [ EBI - ARRAY_EXPRESS ]   TBL2 [ SEEK ]   TBL2 [ MEM ]
Gene Expression Viewer (FireBrowse)TBL2 [ Firebrowse - Broad ]
GenevisibleExpression of TBL2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)26608
GTEX Portal (Tissue expression)TBL2
Human Protein AtlasENSG00000106638-TBL2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y4P3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y4P3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y4P3
PhosPhoSitePlusQ9Y4P3
Domaine pattern : Prosite (Expaxy)WD_REPEATS_1 (PS00678)    WD_REPEATS_2 (PS50082)    WD_REPEATS_REGION (PS50294)   
Domains : Interpro (EBI)G-protein_beta_WD-40_rep    WBSCR13    WD40/YVTN_repeat-like_dom_sf    WD40_repeat    WD40_repeat_CS    WD40_repeat_dom    WD40_repeat_dom_sf   
Domain families : Pfam (Sanger)WD40 (PF00400)   
Domain families : Pfam (NCBI)pfam00400   
Domain families : Smart (EMBL)WD40 (SM00320)  
Conserved Domain (NCBI)TBL2
SuperfamilyQ9Y4P3
AlphaFold pdb e-kbQ9Y4P3   
Human Protein Atlas [tissue]ENSG00000106638-TBL2 [tissue]
HPRD09319
Protein Interaction databases
DIP (DOE-UCLA)Q9Y4P3
IntAct (EBI)Q9Y4P3
BioGRIDTBL2
STRING (EMBL)TBL2
ZODIACTBL2
Ontologies - Pathways
QuickGOQ9Y4P3
Ontology : AmiGORNA binding  endoplasmic reticulum  protein kinase binding  integral component of endoplasmic reticulum membrane  endoplasmic reticulum unfolded protein response  translation initiation factor binding  cellular response to glucose starvation  phosphoprotein binding  cellular response to hypoxia  
Ontology : EGO-EBIRNA binding  endoplasmic reticulum  protein kinase binding  integral component of endoplasmic reticulum membrane  endoplasmic reticulum unfolded protein response  translation initiation factor binding  cellular response to glucose starvation  phosphoprotein binding  cellular response to hypoxia  
NDEx NetworkTBL2
Atlas of Cancer Signalling NetworkTBL2
Wikipedia pathwaysTBL2
Orthology - Evolution
OrthoDB26608
GeneTree (enSembl)ENSG00000106638
Phylogenetic Trees/Animal Genes : TreeFamTBL2
Homologs : HomoloGeneTBL2
Homology/Alignments : Family Browser (UCSC)TBL2
Gene fusions - Rearrangements
Fusion : QuiverTBL2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTBL2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TBL2
dbVarTBL2
ClinVarTBL2
MonarchTBL2
1000_GenomesTBL2 
Exome Variant ServerTBL2
GNOMAD BrowserENSG00000106638
Varsome BrowserTBL2
ACMGTBL2 variants
VarityQ9Y4P3
Genomic Variants (DGV)TBL2 [DGVbeta]
DECIPHERTBL2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTBL2 
Mutations
ICGC Data PortalTBL2 
TCGA Data PortalTBL2 
Broad Tumor PortalTBL2
OASIS PortalTBL2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTBL2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DTBL2
Mutations and Diseases : HGMDTBL2
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaTBL2
DgiDB (Drug Gene Interaction Database)TBL2
DoCM (Curated mutations)TBL2
CIViC (Clinical Interpretations of Variants in Cancer)TBL2
Cancer3DTBL2
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605842   
Orphanet145   
DisGeNETTBL2
MedgenTBL2
Genetic Testing Registry TBL2
NextProtQ9Y4P3 [Medical]
GENETestsTBL2
Target ValidationTBL2
Huge Navigator TBL2 [HugePedia]
ClinGenTBL2
Clinical trials, drugs, therapy
MyCancerGenomeTBL2
Protein Interactions : CTDTBL2
Pharm GKB GenePA36350
PharosQ9Y4P3
Clinical trialTBL2
Miscellaneous
canSAR (ICR)TBL2
HarmonizomeTBL2
DataMed IndexTBL2
Probes
Litterature
PubMed76 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXTBL2
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 Oct 4 15:34:29 CEST 2021

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