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KBTBD4 (kelch repeat and BTB domain containing 4)

Identity

Alias (NCBI)BKLHD4
HSPC252
HGNC (Hugo) KBTBD4
HGNC Alias symbFLJ10450
HSPC252
HGNC Previous nameBKLHD4
HGNC Previous nameBTB and kelch domain containing 4
 kelch repeat and BTB (POZ) domain containing 4
LocusID (NCBI) 55709
Atlas_Id 64753
Location 11p11.2  [Link to chromosome band 11p11]
Location_base_pair Starts at 47572197 and ends at 47579015 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)KBTBD4   23761
Cards
Entrez_Gene (NCBI)KBTBD4    kelch repeat and BTB domain containing 4
AliasesBKLHD4; HSPC252
GeneCards (Weizmann)KBTBD4
Ensembl hg19 (Hinxton)ENSG00000123444 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000123444 [Gene_View]  ENSG00000123444 [Sequence]  chr11:47572197-47579015 [Contig_View]  KBTBD4 [Vega]
ICGC DataPortalENSG00000123444
TCGA cBioPortalKBTBD4
AceView (NCBI)KBTBD4
Genatlas (Paris)KBTBD4
SOURCE (Princeton)KBTBD4
Genetics Home Reference (NIH)KBTBD4
Genomic and cartography
GoldenPath hg38 (UCSC)KBTBD4  -     chr11:47572197-47579015 -  11p11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KBTBD4  -     11p11.2   [Description]    (hg19-Feb_2009)
GoldenPathKBTBD4 - 11p11.2 [CytoView hg19]  KBTBD4 - 11p11.2 [CytoView hg38]
ImmunoBaseENSG00000123444
genome Data Viewer NCBIKBTBD4 [Mapview hg19]  
OMIM617645   
Gene and transcription
Genbank (Entrez)AF151086 AI282006 AK001312 AK001749 AK091607
RefSeq transcript (Entrez)NM_001318716 NM_001318717 NM_001318718 NM_001318719 NM_001318720 NM_001318721 NM_001318722 NM_001318723 NM_001318724 NM_001318725 NM_016506 NM_018095
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KBTBD4
Alternative Splicing GalleryENSG00000123444
Gene ExpressionKBTBD4 [ NCBI-GEO ]   KBTBD4 [ EBI - ARRAY_EXPRESS ]   KBTBD4 [ SEEK ]   KBTBD4 [ MEM ]
Gene Expression Viewer (FireBrowse)KBTBD4 [ Firebrowse - Broad ]
GenevisibleExpression of KBTBD4 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55709
GTEX Portal (Tissue expression)KBTBD4
Human Protein AtlasENSG00000123444-KBTBD4 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NVX7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NVX7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NVX7
Splice isoforms : SwissVarQ9NVX7
PhosPhoSitePlusQ9NVX7
Domaine pattern : Prosite (Expaxy)BTB (PS50097)   
Domains : Interpro (EBI)BACK    BTB-kelch_protein    BTB/POZ_dom    KBTBD4    KBTBD4_BACK    KBTBD4_BTB_POZ    Kelch-typ_b-propeller    SKP1/BTB/POZ_sf   
Domain families : Pfam (Sanger)BACK (PF07707)    BTB (PF00651)   
Domain families : Pfam (NCBI)pfam07707    pfam00651   
Domain families : Smart (EMBL)BACK (SM00875)  BTB (SM00225)  
Conserved Domain (NCBI)KBTBD4
Blocks (Seattle)KBTBD4
PDB (RSDB)2EQX   
PDB Europe2EQX   
PDB (PDBSum)2EQX   
PDB (IMB)2EQX   
Structural Biology KnowledgeBase2EQX   
SCOP (Structural Classification of Proteins)2EQX   
CATH (Classification of proteins structures)2EQX   
SuperfamilyQ9NVX7
Human Protein Atlas [tissue]ENSG00000123444-KBTBD4 [tissue]
Peptide AtlasQ9NVX7
HPRD13757
IPIIPI00334927   IPI00410255   IPI00878906   IPI00816105   IPI00383253   IPI00983979   IPI00976907   IPI00981661   IPI00983043   IPI00976262   IPI00981137   IPI00979536   
Protein Interaction databases
DIP (DOE-UCLA)Q9NVX7
IntAct (EBI)Q9NVX7
BioGRIDKBTBD4
STRING (EMBL)KBTBD4
ZODIACKBTBD4
Ontologies - Pathways
QuickGOQ9NVX7
Ontology : AmiGO
Ontology : EGO-EBI
NDEx NetworkKBTBD4
Atlas of Cancer Signalling NetworkKBTBD4
Wikipedia pathwaysKBTBD4
Orthology - Evolution
OrthoDB55709
GeneTree (enSembl)ENSG00000123444
Phylogenetic Trees/Animal Genes : TreeFamKBTBD4
HOGENOMQ9NVX7
Homologs : HomoloGeneKBTBD4
Homology/Alignments : Family Browser (UCSC)KBTBD4
Gene fusions - Rearrangements
Fusion : QuiverKBTBD4
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKBTBD4 [hg38]
dbVarKBTBD4
ClinVarKBTBD4
MonarchKBTBD4
1000_GenomesKBTBD4 
Exome Variant ServerKBTBD4
GNOMAD BrowserENSG00000123444
Varsome BrowserKBTBD4
Genomic Variants (DGV)KBTBD4 [DGVbeta]
DECIPHERKBTBD4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKBTBD4 
Mutations
ICGC Data PortalKBTBD4 
TCGA Data PortalKBTBD4 
Broad Tumor PortalKBTBD4
OASIS PortalKBTBD4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKBTBD4  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DKBTBD4
Mutations and Diseases : HGMDKBTBD4
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 KBTBD4
DgiDB (Drug Gene Interaction Database)KBTBD4
DoCM (Curated mutations)KBTBD4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KBTBD4 (select a term)
intoGenKBTBD4
Cancer3DKBTBD4(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM617645   
Orphanet
DisGeNETKBTBD4
MedgenKBTBD4
Genetic Testing Registry KBTBD4
NextProtQ9NVX7 [Medical]
GENETestsKBTBD4
Target ValidationKBTBD4
Huge Navigator KBTBD4 [HugePedia]
ClinGenKBTBD4
Clinical trials, drugs, therapy
MyCancerGenomeKBTBD4
Protein Interactions : CTD
Pharm GKB GenePA134883813
Clinical trialKBTBD4
Miscellaneous
canSAR (ICR)KBTBD4 (select the gene name)
HarmonizomeKBTBD4
DataMed IndexKBTBD4
Probes
Litterature
PubMed12 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKBTBD4
EVEXKBTBD4
GoPubMedKBTBD4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Dec 5 16:58:20 CET 2020

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