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KBTBD12 (kelch repeat and BTB domain containing 12)

Identity

Alias_namesKLHDC6
kelch domain containing 6
kelch repeat and BTB (POZ) domain containing 12
Alias_symbol (synonym)FLJ46299
Other alias
HGNC (Hugo) KBTBD12
LocusID (NCBI) 166348
Atlas_Id 64749
Location 3q21.3  [Link to chromosome band 3q21]
Location_base_pair Starts at 127923059 and ends at 127987671 bp from pter ( according to hg38-Dec_2013)

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)KBTBD12   25731
Cards
Entrez_Gene (NCBI)KBTBD12  166348  kelch repeat and BTB domain containing 12
AliasesKLHDC6
GeneCards (Weizmann)KBTBD12
Ensembl hg19 (Hinxton)ENSG00000187715 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000187715 [Gene_View]  chr3:127923059-127987671 [Contig_View]  KBTBD12 [Vega]
ICGC DataPortalENSG00000187715
TCGA cBioPortalKBTBD12
AceView (NCBI)KBTBD12
Genatlas (Paris)KBTBD12
WikiGenes166348
SOURCE (Princeton)KBTBD12
Genetics Home Reference (NIH)KBTBD12
Genomic and cartography
GoldenPath hg38 (UCSC)KBTBD12  -     chr3:127923059-127987671 +  3q21.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KBTBD12  -     3q21.3   [Description]    (hg19-Feb_2009)
EnsemblKBTBD12 - 3q21.3 [CytoView hg19]  KBTBD12 - 3q21.3 [CytoView hg38]
Mapping of homologs : NCBIKBTBD12 [Mapview hg19]  KBTBD12 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AK128176 AK307108 AM393308 AM393457 BC041365
RefSeq transcript (Entrez)NM_207335
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KBTBD12
Cluster EST : UnigeneHs.132087 [ NCBI ]
CGAP (NCI)Hs.132087
Alternative Splicing GalleryENSG00000187715
Gene ExpressionKBTBD12 [ NCBI-GEO ]   KBTBD12 [ EBI - ARRAY_EXPRESS ]   KBTBD12 [ SEEK ]   KBTBD12 [ MEM ]
Gene Expression Viewer (FireBrowse)KBTBD12 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)166348
GTEX Portal (Tissue expression)KBTBD12
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ3ZCT8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ3ZCT8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ3ZCT8
Splice isoforms : SwissVarQ3ZCT8
PhosPhoSitePlusQ3ZCT8
Domaine pattern : Prosite (Expaxy)BTB (PS50097)   
Domains : Interpro (EBI)BACK    BTB-kelch_protein    BTB/POZ_dom    KBTBD12    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)KBTBD12
DMDM Disease mutations166348
Blocks (Seattle)KBTBD12
SuperfamilyQ3ZCT8
Human Protein AtlasENSG00000187715
Peptide AtlasQ3ZCT8
HPRD17001
IPIIPI00784149   IPI00877811   IPI00879903   
Protein Interaction databases
DIP (DOE-UCLA)Q3ZCT8
IntAct (EBI)Q3ZCT8
FunCoupENSG00000187715
BioGRIDKBTBD12
STRING (EMBL)KBTBD12
ZODIACKBTBD12
Ontologies - Pathways
QuickGOQ3ZCT8
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 NetworkKBTBD12
Atlas of Cancer Signalling NetworkKBTBD12
Wikipedia pathwaysKBTBD12
Orthology - Evolution
OrthoDB166348
GeneTree (enSembl)ENSG00000187715
Phylogenetic Trees/Animal Genes : TreeFamKBTBD12
HOVERGENQ3ZCT8
HOGENOMQ3ZCT8
Homologs : HomoloGeneKBTBD12
Homology/Alignments : Family Browser (UCSC)KBTBD12
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKBTBD12 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KBTBD12
dbVarKBTBD12
ClinVarKBTBD12
1000_GenomesKBTBD12 
Exome Variant ServerKBTBD12
ExAC (Exome Aggregation Consortium)KBTBD12 (select the gene name)
Genetic variants : HAPMAP166348
Genomic Variants (DGV)KBTBD12 [DGVbeta]
DECIPHERKBTBD12 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKBTBD12 
Mutations
ICGC Data PortalKBTBD12 
TCGA Data PortalKBTBD12 
Broad Tumor PortalKBTBD12
OASIS PortalKBTBD12 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKBTBD12  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKBTBD12
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 KBTBD12
DgiDB (Drug Gene Interaction Database)KBTBD12
DoCM (Curated mutations)KBTBD12 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KBTBD12 (select a term)
intoGenKBTBD12
Cancer3DKBTBD12(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenKBTBD12
Genetic Testing Registry KBTBD12
NextProtQ3ZCT8 [Medical]
TSGene166348
GENETestsKBTBD12
Target ValidationKBTBD12
Huge Navigator KBTBD12 [HugePedia]
snp3D : Map Gene to Disease166348
BioCentury BCIQKBTBD12
ClinGenKBTBD12
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD166348
Chemical/Pharm GKB GenePA165697420
Clinical trialKBTBD12
Miscellaneous
canSAR (ICR)KBTBD12 (select the gene name)
Probes
Litterature
PubMed5 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKBTBD12
EVEXKBTBD12
GoPubMedKBTBD12
iHOPKBTBD12
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 15:53:59 CEST 2017

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