Atlas of Genetics and Cytogenetics in Oncology and Haematology


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KLHL20 (kelch like family member 20)

Identity

Alias_nameskelch-like 20 (Drosophila)
Alias_symbol (synonym)KLEIP
KHLHX
Other aliasKLHLX
HGNC (Hugo) KLHL20
LocusID (NCBI) 27252
Atlas_Id 52461
Location 1q25.1  [Link to chromosome band 1q25]
Location_base_pair Starts at 173684080 and ends at 173755840 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
KLHL20 (1q25.1) / SRGAP2 (1q32.1)RABGAP1L (1q25.1) / KLHL20 (1q25.1)

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)KLHL20   25056
Cards
Entrez_Gene (NCBI)KLHL20  27252  kelch like family member 20
AliasesKHLHX; KLEIP; KLHLX
GeneCards (Weizmann)KLHL20
Ensembl hg19 (Hinxton)ENSG00000076321 [Gene_View]  chr1:173684080-173755840 [Contig_View]  KLHL20 [Vega]
Ensembl hg38 (Hinxton)ENSG00000076321 [Gene_View]  chr1:173684080-173755840 [Contig_View]  KLHL20 [Vega]
ICGC DataPortalENSG00000076321
TCGA cBioPortalKLHL20
AceView (NCBI)KLHL20
Genatlas (Paris)KLHL20
WikiGenes27252
SOURCE (Princeton)KLHL20
Genetics Home Reference (NIH)KLHL20
Genomic and cartography
GoldenPath hg19 (UCSC)KLHL20  -     chr1:173684080-173755840 +  1q25.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)KLHL20  -     1q25.1   [Description]    (hg38-Dec_2013)
EnsemblKLHL20 - 1q25.1 [CytoView hg19]  KLHL20 - 1q25.1 [CytoView hg38]
Mapping of homologs : NCBIKLHL20 [Mapview hg19]  KLHL20 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AB026190 AJ844466 AK001430 AK300755 AK308048
RefSeq transcript (Entrez)NM_014458
RefSeq genomic (Entrez)NC_000001 NC_018912 NT_004487 NW_004929293
Consensus coding sequences : CCDS (NCBI)KLHL20
Cluster EST : UnigeneHs.495035 [ NCBI ]
CGAP (NCI)Hs.495035
Alternative Splicing GalleryENSG00000076321
Gene ExpressionKLHL20 [ NCBI-GEO ]   KLHL20 [ EBI - ARRAY_EXPRESS ]   KLHL20 [ SEEK ]   KLHL20 [ MEM ]
Gene Expression Viewer (FireBrowse)KLHL20 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)27252
GTEX Portal (Tissue expression)KLHL20
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y2M5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y2M5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y2M5
Splice isoforms : SwissVarQ9Y2M5
PhosPhoSitePlusQ9Y2M5
Domaine pattern : Prosite (Expaxy)BTB (PS50097)   
Domains : Interpro (EBI)BACK    BTB-kelch_protein    BTB/POZ_dom    Gal_Oxidase_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)KLHL20
DMDM Disease mutations27252
Blocks (Seattle)KLHL20
SuperfamilyQ9Y2M5
Human Protein AtlasENSG00000076321
Peptide AtlasQ9Y2M5
HPRD13918
IPIIPI00032338   IPI01010345   IPI00386640   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y2M5
IntAct (EBI)Q9Y2M5
FunCoupENSG00000076321
BioGRIDKLHL20
STRING (EMBL)KLHL20
ZODIACKLHL20
Ontologies - Pathways
QuickGOQ9Y2M5
Ontology : AmiGOactin binding  ubiquitin-protein transferase activity  ubiquitin-protein transferase activity  protein binding  cytoplasm  Golgi apparatus  trans-Golgi network  cytosol  Golgi to endosome transport  cytoskeleton organization  protein transport  actin cytoskeleton  protein ubiquitination  PML body  interferon-gamma binding  axon  dendrite  Cul3-RING ubiquitin ligase complex  response to interferon-alpha  protein ubiquitination involved in ubiquitin-dependent protein catabolic process  negative regulation of apoptotic process  proteasome-mediated ubiquitin-dependent protein catabolic process  perinuclear region of cytoplasm  protein K33-linked ubiquitination  
Ontology : EGO-EBIactin binding  ubiquitin-protein transferase activity  ubiquitin-protein transferase activity  protein binding  cytoplasm  Golgi apparatus  trans-Golgi network  cytosol  Golgi to endosome transport  cytoskeleton organization  protein transport  actin cytoskeleton  protein ubiquitination  PML body  interferon-gamma binding  axon  dendrite  Cul3-RING ubiquitin ligase complex  response to interferon-alpha  protein ubiquitination involved in ubiquitin-dependent protein catabolic process  negative regulation of apoptotic process  proteasome-mediated ubiquitin-dependent protein catabolic process  perinuclear region of cytoplasm  protein K33-linked ubiquitination  
NDEx NetworkKLHL20
Atlas of Cancer Signalling NetworkKLHL20
Wikipedia pathwaysKLHL20
Orthology - Evolution
OrthoDB27252
GeneTree (enSembl)ENSG00000076321
Phylogenetic Trees/Animal Genes : TreeFamKLHL20
HOVERGENQ9Y2M5
HOGENOMQ9Y2M5
Homologs : HomoloGeneKLHL20
Homology/Alignments : Family Browser (UCSC)KLHL20
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKLHL20 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KLHL20
dbVarKLHL20
ClinVarKLHL20
1000_GenomesKLHL20 
Exome Variant ServerKLHL20
ExAC (Exome Aggregation Consortium)KLHL20 (select the gene name)
Genetic variants : HAPMAP27252
Genomic Variants (DGV)KLHL20 [DGVbeta]
DECIPHER (Syndromes)1:173684080-173755840  ENSG00000076321
CONAN: Copy Number AnalysisKLHL20 
Mutations
ICGC Data PortalKLHL20 
TCGA Data PortalKLHL20 
Broad Tumor PortalKLHL20
OASIS PortalKLHL20 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKLHL20  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKLHL20
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch KLHL20
DgiDB (Drug Gene Interaction Database)KLHL20
DoCM (Curated mutations)KLHL20 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KLHL20 (select a term)
intoGenKLHL20
Cancer3DKLHL20(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenKLHL20
Genetic Testing Registry KLHL20
NextProtQ9Y2M5 [Medical]
TSGene27252
GENETestsKLHL20
Huge Navigator KLHL20 [HugePedia]
snp3D : Map Gene to Disease27252
BioCentury BCIQKLHL20
ClinGenKLHL20
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD27252
Chemical/Pharm GKB GenePA134982126
Clinical trialKLHL20
Miscellaneous
canSAR (ICR)KLHL20 (select the gene name)
Probes
Litterature
PubMed26 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKLHL20
EVEXKLHL20
GoPubMedKLHL20
iHOPKLHL20
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 : Thu Mar 30 15:06:21 CEST 2017

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