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KBTBD2 (kelch repeat and BTB domain containing 2)

Identity

Alias_namesBKLHD1
BTB and kelch domain containing 1
kelch repeat and BTB (POZ) domain containing 2
Alias_symbol (synonym)DKFZP566C134
Other alias
HGNC (Hugo) KBTBD2
LocusID (NCBI) 25948
Atlas_Id 64751
Location 7p14.3  [Link to chromosome band 7p14]
Location_base_pair Starts at 32868166 and ends at 32891856 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)KBTBD2   21751
Cards
Entrez_Gene (NCBI)KBTBD2  25948  kelch repeat and BTB domain containing 2
AliasesBKLHD1
GeneCards (Weizmann)KBTBD2
Ensembl hg19 (Hinxton)ENSG00000170852 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000170852 [Gene_View]  chr7:32868166-32891856 [Contig_View]  KBTBD2 [Vega]
ICGC DataPortalENSG00000170852
TCGA cBioPortalKBTBD2
AceView (NCBI)KBTBD2
Genatlas (Paris)KBTBD2
WikiGenes25948
SOURCE (Princeton)KBTBD2
Genetics Home Reference (NIH)KBTBD2
Genomic and cartography
GoldenPath hg38 (UCSC)KBTBD2  -     chr7:32868166-32891856 -  7p14.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KBTBD2  -     7p14.3   [Description]    (hg19-Feb_2009)
EnsemblKBTBD2 - 7p14.3 [CytoView hg19]  KBTBD2 - 7p14.3 [CytoView hg38]
Mapping of homologs : NCBIKBTBD2 [Mapview hg19]  KBTBD2 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AB040922 AF004292 AF151831 AF161402 AK024557
RefSeq transcript (Entrez)NM_015483
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KBTBD2
Cluster EST : UnigeneHs.372541 [ NCBI ]
CGAP (NCI)Hs.372541
Alternative Splicing GalleryENSG00000170852
Gene ExpressionKBTBD2 [ NCBI-GEO ]   KBTBD2 [ EBI - ARRAY_EXPRESS ]   KBTBD2 [ SEEK ]   KBTBD2 [ MEM ]
Gene Expression Viewer (FireBrowse)KBTBD2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)25948
GTEX Portal (Tissue expression)KBTBD2
Human Protein AtlasENSG00000170852-KBTBD2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8IY47   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8IY47  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8IY47
Splice isoforms : SwissVarQ8IY47
PhosPhoSitePlusQ8IY47
Domaine pattern : Prosite (Expaxy)BTB (PS50097)   
Domains : Interpro (EBI)BACK    BTB-kelch_protein    BTB/POZ_dom    Kelch-typ_b-propeller    Kelch_1    SKP1/BTB/POZ   
Domain families : Pfam (Sanger)BACK (PF07707)    BTB (PF00651)    Kelch_1 (PF01344)   
Domain families : Pfam (NCBI)pfam07707    pfam00651    pfam01344   
Domain families : Smart (EMBL)BACK (SM00875)  BTB (SM00225)  Kelch (SM00612)  
Conserved Domain (NCBI)KBTBD2
DMDM Disease mutations25948
Blocks (Seattle)KBTBD2
SuperfamilyQ8IY47
Human Protein Atlas [tissue]ENSG00000170852-KBTBD2 [tissue]
Peptide AtlasQ8IY47
HPRD13756
IPIIPI00293363   IPI00383188   IPI01013410   IPI00916987   IPI00916529   IPI00917268   IPI00917762   
Protein Interaction databases
DIP (DOE-UCLA)Q8IY47
IntAct (EBI)Q8IY47
FunCoupENSG00000170852
BioGRIDKBTBD2
STRING (EMBL)KBTBD2
ZODIACKBTBD2
Ontologies - Pathways
QuickGOQ8IY47
Ontology : AmiGOubiquitin-protein transferase activity  protein ubiquitination  Cul3-RING ubiquitin ligase complex  
Ontology : EGO-EBIubiquitin-protein transferase activity  protein ubiquitination  Cul3-RING ubiquitin ligase complex  
NDEx NetworkKBTBD2
Atlas of Cancer Signalling NetworkKBTBD2
Wikipedia pathwaysKBTBD2
Orthology - Evolution
OrthoDB25948
GeneTree (enSembl)ENSG00000170852
Phylogenetic Trees/Animal Genes : TreeFamKBTBD2
HOVERGENQ8IY47
HOGENOMQ8IY47
Homologs : HomoloGeneKBTBD2
Homology/Alignments : Family Browser (UCSC)KBTBD2
Gene fusions - Rearrangements
Tumor Fusion PortalKBTBD2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKBTBD2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KBTBD2
dbVarKBTBD2
ClinVarKBTBD2
1000_GenomesKBTBD2 
Exome Variant ServerKBTBD2
ExAC (Exome Aggregation Consortium)ENSG00000170852
GNOMAD BrowserENSG00000170852
Genetic variants : HAPMAP25948
Genomic Variants (DGV)KBTBD2 [DGVbeta]
DECIPHERKBTBD2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKBTBD2 
Mutations
ICGC Data PortalKBTBD2 
TCGA Data PortalKBTBD2 
Broad Tumor PortalKBTBD2
OASIS PortalKBTBD2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKBTBD2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKBTBD2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch KBTBD2
DgiDB (Drug Gene Interaction Database)KBTBD2
DoCM (Curated mutations)KBTBD2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KBTBD2 (select a term)
intoGenKBTBD2
Cancer3DKBTBD2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETKBTBD2
MedgenKBTBD2
Genetic Testing Registry KBTBD2
NextProtQ8IY47 [Medical]
TSGene25948
GENETestsKBTBD2
Target ValidationKBTBD2
Huge Navigator KBTBD2 [HugePedia]
snp3D : Map Gene to Disease25948
BioCentury BCIQKBTBD2
ClinGenKBTBD2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD25948
Chemical/Pharm GKB GenePA134892896
Clinical trialKBTBD2
Miscellaneous
canSAR (ICR)KBTBD2 (select the gene name)
Probes
Litterature
PubMed9 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKBTBD2
EVEXKBTBD2
GoPubMedKBTBD2
iHOPKBTBD2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 13:16:18 CET 2017

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