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KBTBD3 (kelch repeat and BTB domain containing 3)

Identity

Alias_namesBKLHD3
BTB and kelch domain containing 3
kelch repeat and BTB (POZ) domain containing 3
Other alias
HGNC (Hugo) KBTBD3
LocusID (NCBI) 143879
Atlas_Id 64752
Location 11q22.3  [Link to chromosome band 11q22]
Location_base_pair Starts at 106051098 and ends at 106077738 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)KBTBD3   22934
Cards
Entrez_Gene (NCBI)KBTBD3  143879  kelch repeat and BTB domain containing 3
AliasesBKLHD3
GeneCards (Weizmann)KBTBD3
Ensembl hg19 (Hinxton)ENSG00000182359 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000182359 [Gene_View]  chr11:106051098-106077738 [Contig_View]  KBTBD3 [Vega]
ICGC DataPortalENSG00000182359
TCGA cBioPortalKBTBD3
AceView (NCBI)KBTBD3
Genatlas (Paris)KBTBD3
WikiGenes143879
SOURCE (Princeton)KBTBD3
Genetics Home Reference (NIH)KBTBD3
Genomic and cartography
GoldenPath hg38 (UCSC)KBTBD3  -     chr11:106051098-106077738 -  11q22.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KBTBD3  -     11q22.3   [Description]    (hg19-Feb_2009)
EnsemblKBTBD3 - 11q22.3 [CytoView hg19]  KBTBD3 - 11q22.3 [CytoView hg38]
Mapping of homologs : NCBIKBTBD3 [Mapview hg19]  KBTBD3 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AK055247 AK092993 AK124540 AK289915 BC047311
RefSeq transcript (Entrez)NM_001330359 NM_152433 NM_198439
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KBTBD3
Cluster EST : UnigeneHs.101949 [ NCBI ]
CGAP (NCI)Hs.101949
Alternative Splicing GalleryENSG00000182359
Gene ExpressionKBTBD3 [ NCBI-GEO ]   KBTBD3 [ EBI - ARRAY_EXPRESS ]   KBTBD3 [ SEEK ]   KBTBD3 [ MEM ]
Gene Expression Viewer (FireBrowse)KBTBD3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)143879
GTEX Portal (Tissue expression)KBTBD3
Human Protein AtlasENSG00000182359-KBTBD3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8NAB2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8NAB2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8NAB2
Splice isoforms : SwissVarQ8NAB2
PhosPhoSitePlusQ8NAB2
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)KBTBD3
DMDM Disease mutations143879
Blocks (Seattle)KBTBD3
SuperfamilyQ8NAB2
Human Protein Atlas [tissue]ENSG00000182359-KBTBD3 [tissue]
Peptide AtlasQ8NAB2
HPRD10005
IPIIPI00978206   IPI00167953   IPI00979598   
Protein Interaction databases
DIP (DOE-UCLA)Q8NAB2
IntAct (EBI)Q8NAB2
FunCoupENSG00000182359
BioGRIDKBTBD3
STRING (EMBL)KBTBD3
ZODIACKBTBD3
Ontologies - Pathways
QuickGOQ8NAB2
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 NetworkKBTBD3
Atlas of Cancer Signalling NetworkKBTBD3
Wikipedia pathwaysKBTBD3
Orthology - Evolution
OrthoDB143879
GeneTree (enSembl)ENSG00000182359
Phylogenetic Trees/Animal Genes : TreeFamKBTBD3
HOVERGENQ8NAB2
HOGENOMQ8NAB2
Homologs : HomoloGeneKBTBD3
Homology/Alignments : Family Browser (UCSC)KBTBD3
Gene fusions - Rearrangements
Tumor Fusion PortalKBTBD3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKBTBD3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KBTBD3
dbVarKBTBD3
ClinVarKBTBD3
1000_GenomesKBTBD3 
Exome Variant ServerKBTBD3
ExAC (Exome Aggregation Consortium)ENSG00000182359
GNOMAD BrowserENSG00000182359
Genetic variants : HAPMAP143879
Genomic Variants (DGV)KBTBD3 [DGVbeta]
DECIPHERKBTBD3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKBTBD3 
Mutations
ICGC Data PortalKBTBD3 
TCGA Data PortalKBTBD3 
Broad Tumor PortalKBTBD3
OASIS PortalKBTBD3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKBTBD3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKBTBD3
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 KBTBD3
DgiDB (Drug Gene Interaction Database)KBTBD3
DoCM (Curated mutations)KBTBD3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KBTBD3 (select a term)
intoGenKBTBD3
Cancer3DKBTBD3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETKBTBD3
MedgenKBTBD3
Genetic Testing Registry KBTBD3
NextProtQ8NAB2 [Medical]
TSGene143879
GENETestsKBTBD3
Target ValidationKBTBD3
Huge Navigator KBTBD3 [HugePedia]
snp3D : Map Gene to Disease143879
BioCentury BCIQKBTBD3
ClinGenKBTBD3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD143879
Chemical/Pharm GKB GenePA134920598
Clinical trialKBTBD3
Miscellaneous
canSAR (ICR)KBTBD3 (select the gene name)
Probes
Litterature
PubMed5 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKBTBD3
EVEXKBTBD3
GoPubMedKBTBD3
iHOPKBTBD3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 13:23:35 CET 2017

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