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KBTBD8 (kelch repeat and BTB domain containing 8)

Identity

Alias_nameskelch repeat and BTB (POZ) domain containing 8
Alias_symbol (synonym)TA-KRP
KIAA1842
Other aliasTAKRP
HGNC (Hugo) KBTBD8
LocusID (NCBI) 84541
Atlas_Id 64755
Location 3p14.1  [Link to chromosome band 3p14]
Location_base_pair Starts at 66998303 and ends at 67011208 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
NOVA1 (14q12) / KBTBD8 (3p14.1)

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)KBTBD8   30691
Cards
Entrez_Gene (NCBI)KBTBD8  84541  kelch repeat and BTB domain containing 8
AliasesTA-KRP; TAKRP
GeneCards (Weizmann)KBTBD8
Ensembl hg19 (Hinxton)ENSG00000163376 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000163376 [Gene_View]  chr3:66998303-67011208 [Contig_View]  KBTBD8 [Vega]
ICGC DataPortalENSG00000163376
TCGA cBioPortalKBTBD8
AceView (NCBI)KBTBD8
Genatlas (Paris)KBTBD8
WikiGenes84541
SOURCE (Princeton)KBTBD8
Genetics Home Reference (NIH)KBTBD8
Genomic and cartography
GoldenPath hg38 (UCSC)KBTBD8  -     chr3:66998303-67011208 +  3p14.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KBTBD8  -     3p14.1   [Description]    (hg19-Feb_2009)
EnsemblKBTBD8 - 3p14.1 [CytoView hg19]  KBTBD8 - 3p14.1 [CytoView hg38]
Mapping of homologs : NCBIKBTBD8 [Mapview hg19]  KBTBD8 [Mapview hg38]
OMIM616607   
Gene and transcription
Genbank (Entrez)AB058745 AF385438 AK096640 AK300397 BC117487
RefSeq transcript (Entrez)NM_032505
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KBTBD8
Cluster EST : UnigeneHs.116665 [ NCBI ]
CGAP (NCI)Hs.116665
Alternative Splicing GalleryENSG00000163376
Gene ExpressionKBTBD8 [ NCBI-GEO ]   KBTBD8 [ EBI - ARRAY_EXPRESS ]   KBTBD8 [ SEEK ]   KBTBD8 [ MEM ]
Gene Expression Viewer (FireBrowse)KBTBD8 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)84541
GTEX Portal (Tissue expression)KBTBD8
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8NFY9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8NFY9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8NFY9
Splice isoforms : SwissVarQ8NFY9
PhosPhoSitePlusQ8NFY9
Domaine pattern : Prosite (Expaxy)BTB (PS50097)   
Domains : Interpro (EBI)BACK    BTB-kelch_protein    BTB/POZ_dom    KBTBD8    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)KBTBD8
DMDM Disease mutations84541
Blocks (Seattle)KBTBD8
SuperfamilyQ8NFY9
Human Protein AtlasENSG00000163376
Peptide AtlasQ8NFY9
HPRD18138
IPIIPI00168944   IPI00943062   IPI00944923   IPI00946972   
Protein Interaction databases
DIP (DOE-UCLA)Q8NFY9
IntAct (EBI)Q8NFY9
FunCoupENSG00000163376
BioGRIDKBTBD8
STRING (EMBL)KBTBD8
ZODIACKBTBD8
Ontologies - Pathways
QuickGOQ8NFY9
Ontology : AmiGOubiquitin-protein transferase activity  protein binding  Golgi apparatus  spindle  regulation of translation  protein monoubiquitination  neural crest formation  neural crest cell development  Cul3-RING ubiquitin ligase complex  Cul3-RING ubiquitin ligase complex  protein ubiquitination involved in ubiquitin-dependent protein catabolic process  
Ontology : EGO-EBIubiquitin-protein transferase activity  protein binding  Golgi apparatus  spindle  regulation of translation  protein monoubiquitination  neural crest formation  neural crest cell development  Cul3-RING ubiquitin ligase complex  Cul3-RING ubiquitin ligase complex  protein ubiquitination involved in ubiquitin-dependent protein catabolic process  
NDEx NetworkKBTBD8
Atlas of Cancer Signalling NetworkKBTBD8
Wikipedia pathwaysKBTBD8
Orthology - Evolution
OrthoDB84541
GeneTree (enSembl)ENSG00000163376
Phylogenetic Trees/Animal Genes : TreeFamKBTBD8
HOVERGENQ8NFY9
HOGENOMQ8NFY9
Homologs : HomoloGeneKBTBD8
Homology/Alignments : Family Browser (UCSC)KBTBD8
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKBTBD8 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KBTBD8
dbVarKBTBD8
ClinVarKBTBD8
1000_GenomesKBTBD8 
Exome Variant ServerKBTBD8
ExAC (Exome Aggregation Consortium)KBTBD8 (select the gene name)
Genetic variants : HAPMAP84541
Genomic Variants (DGV)KBTBD8 [DGVbeta]
DECIPHERKBTBD8 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKBTBD8 
Mutations
ICGC Data PortalKBTBD8 
TCGA Data PortalKBTBD8 
Broad Tumor PortalKBTBD8
OASIS PortalKBTBD8 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKBTBD8  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKBTBD8
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 KBTBD8
DgiDB (Drug Gene Interaction Database)KBTBD8
DoCM (Curated mutations)KBTBD8 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KBTBD8 (select a term)
intoGenKBTBD8
Cancer3DKBTBD8(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM616607   
Orphanet
MedgenKBTBD8
Genetic Testing Registry KBTBD8
NextProtQ8NFY9 [Medical]
TSGene84541
GENETestsKBTBD8
Target ValidationKBTBD8
Huge Navigator KBTBD8 [HugePedia]
snp3D : Map Gene to Disease84541
BioCentury BCIQKBTBD8
ClinGenKBTBD8
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD84541
Chemical/Pharm GKB GenePA142671641
Clinical trialKBTBD8
Miscellaneous
canSAR (ICR)KBTBD8 (select the gene name)
Probes
Litterature
PubMed9 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKBTBD8
EVEXKBTBD8
GoPubMedKBTBD8
iHOPKBTBD8
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 15:54:00 CEST 2017

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