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KLHL32 (kelch like family member 32)

Identity

Alias_namesBKLHD5
KIAA1900
BTB and kelch domain containing 5
KIAA1900
kelch-like 32 (Drosophila)
Other aliasUG0030H05
dJ21F7.1
HGNC (Hugo) KLHL32
LocusID (NCBI) 114792
Atlas_Id 64975
Location 6q16.1  [Link to chromosome band 6q16]
Location_base_pair Starts at 96924620 and ends at 97140754 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)
ANKRD11 (16q24.3) / KLHL32 (6q16.1)MED23 (6q23.2) / KLHL32 (6q16.1)MED23 KLHL32
ANKRD11 KLHL32

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(6;6)(q16;q23) MED23/KLHL32
t(6;16)(q16;q24) ANKRD11/KLHL32


External links

Nomenclature
HGNC (Hugo)KLHL32   21221
Cards
Entrez_Gene (NCBI)KLHL32  114792  kelch like family member 32
AliasesBKLHD5; KIAA1900; UG0030H05; dJ21F7.1
GeneCards (Weizmann)KLHL32
Ensembl hg19 (Hinxton)ENSG00000186231 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000186231 [Gene_View]  chr6:96924620-97140754 [Contig_View]  KLHL32 [Vega]
ICGC DataPortalENSG00000186231
TCGA cBioPortalKLHL32
AceView (NCBI)KLHL32
Genatlas (Paris)KLHL32
WikiGenes114792
SOURCE (Princeton)KLHL32
Genetics Home Reference (NIH)KLHL32
Genomic and cartography
GoldenPath hg38 (UCSC)KLHL32  -     chr6:96924620-97140754 +  6q16.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KLHL32  -     6q16.1   [Description]    (hg19-Feb_2009)
EnsemblKLHL32 - 6q16.1 [CytoView hg19]  KLHL32 - 6q16.1 [CytoView hg38]
Mapping of homologs : NCBIKLHL32 [Mapview hg19]  KLHL32 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AB067487 AF351610 AK055292 AK295479 AK297240
RefSeq transcript (Entrez)NM_001286250 NM_001286251 NM_001286252 NM_001286254 NM_001323252 NM_001323253 NM_001323254 NM_001323255 NM_001323256 NM_001323257 NM_001323258 NM_001323259 NM_001323260 NM_001323261 NM_001323262 NM_001323263 NM_001323264 NM_052904
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KLHL32
Cluster EST : UnigeneHs.742749 [ NCBI ]
CGAP (NCI)Hs.742749
Alternative Splicing GalleryENSG00000186231
Gene ExpressionKLHL32 [ NCBI-GEO ]   KLHL32 [ EBI - ARRAY_EXPRESS ]   KLHL32 [ SEEK ]   KLHL32 [ MEM ]
Gene Expression Viewer (FireBrowse)KLHL32 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)114792
GTEX Portal (Tissue expression)KLHL32
Human Protein AtlasENSG00000186231-KLHL32 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96NJ5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96NJ5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96NJ5
Splice isoforms : SwissVarQ96NJ5
PhosPhoSitePlusQ96NJ5
Domaine pattern : Prosite (Expaxy)BTB (PS50097)   
Domains : Interpro (EBI)BACK    BTB-kelch_protein    BTB/POZ_dom    Kelch-typ_b-propeller    Kelch_1    KLHL32    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)KLHL32
DMDM Disease mutations114792
Blocks (Seattle)KLHL32
SuperfamilyQ96NJ5
Human Protein Atlas [tissue]ENSG00000186231-KLHL32 [tissue]
Peptide AtlasQ96NJ5
HPRD13898
IPIIPI00844102   IPI00922457   IPI01015044   IPI00514008   IPI01015448   IPI00646918   
Protein Interaction databases
DIP (DOE-UCLA)Q96NJ5
IntAct (EBI)Q96NJ5
FunCoupENSG00000186231
BioGRIDKLHL32
STRING (EMBL)KLHL32
ZODIACKLHL32
Ontologies - Pathways
QuickGOQ96NJ5
Ontology : AmiGOubiquitin-protein transferase activity  cytoplasm  spermatid development  male gonad development  fertilization  protein ubiquitination  Cul3-RING ubiquitin ligase complex  
Ontology : EGO-EBIubiquitin-protein transferase activity  cytoplasm  spermatid development  male gonad development  fertilization  protein ubiquitination  Cul3-RING ubiquitin ligase complex  
NDEx NetworkKLHL32
Atlas of Cancer Signalling NetworkKLHL32
Wikipedia pathwaysKLHL32
Orthology - Evolution
OrthoDB114792
GeneTree (enSembl)ENSG00000186231
Phylogenetic Trees/Animal Genes : TreeFamKLHL32
HOVERGENQ96NJ5
HOGENOMQ96NJ5
Homologs : HomoloGeneKLHL32
Homology/Alignments : Family Browser (UCSC)KLHL32
Gene fusions - Rearrangements
Fusion: TCGA_MDACCMED23 KLHL32
Fusion: TCGA_MDACCANKRD11 KLHL32
Fusion PortalMED23 KLHL32
Fusion PortalANKRD11 KLHL32
Fusion : QuiverKLHL32
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKLHL32 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KLHL32
dbVarKLHL32
ClinVarKLHL32
1000_GenomesKLHL32 
Exome Variant ServerKLHL32
ExAC (Exome Aggregation Consortium)ENSG00000186231
GNOMAD BrowserENSG00000186231
Genetic variants : HAPMAP114792
Genomic Variants (DGV)KLHL32 [DGVbeta]
DECIPHERKLHL32 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKLHL32 
Mutations
ICGC Data PortalKLHL32 
TCGA Data PortalKLHL32 
Broad Tumor PortalKLHL32
OASIS PortalKLHL32 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKLHL32  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKLHL32
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 KLHL32
DgiDB (Drug Gene Interaction Database)KLHL32
DoCM (Curated mutations)KLHL32 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KLHL32 (select a term)
intoGenKLHL32
Cancer3DKLHL32(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETKLHL32
MedgenKLHL32
Genetic Testing Registry KLHL32
NextProtQ96NJ5 [Medical]
TSGene114792
GENETestsKLHL32
Target ValidationKLHL32
Huge Navigator KLHL32 [HugePedia]
snp3D : Map Gene to Disease114792
BioCentury BCIQKLHL32
ClinGenKLHL32
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD114792
Chemical/Pharm GKB GenePA162393552
Clinical trialKLHL32
Miscellaneous
canSAR (ICR)KLHL32 (select the gene name)
Probes
Litterature
PubMed12 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKLHL32
EVEXKLHL32
GoPubMedKLHL32
iHOPKLHL32
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 : Fri Feb 23 18:23:01 CET 2018

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