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KLHL22 (kelch like family member 22)

Identity

Alias_nameskelch-like 22 (Drosophila)
Alias_symbol (synonym)FLJ14360
KELCHL
Other alias
HGNC (Hugo) KLHL22
LocusID (NCBI) 84861
Atlas_Id 64966
Location 22q11.21  [Link to chromosome band 22q11]
Location_base_pair Starts at 20441519 and ends at 20495883 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)
KLHL22 (22q11.21) / KLHL22 (22q11.21)KLHL22 (22q11.21) / RBL1 (20q11.23)KLHL22 (22q11.21) / ZNF74 (22q11.21)
RPGRIP1L (16q12.2) / KLHL22 (22q11.21)

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)KLHL22   25888
Cards
Entrez_Gene (NCBI)KLHL22  84861  kelch like family member 22
AliasesKELCHL
GeneCards (Weizmann)KLHL22
Ensembl hg19 (Hinxton)ENSG00000099910 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000099910 [Gene_View]  chr22:20441519-20495883 [Contig_View]  KLHL22 [Vega]
ICGC DataPortalENSG00000099910
TCGA cBioPortalKLHL22
AceView (NCBI)KLHL22
Genatlas (Paris)KLHL22
WikiGenes84861
SOURCE (Princeton)KLHL22
Genetics Home Reference (NIH)KLHL22
Genomic and cartography
GoldenPath hg38 (UCSC)KLHL22  -     chr22:20441519-20495883 -  22q11.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KLHL22  -     22q11.21   [Description]    (hg19-Feb_2009)
EnsemblKLHL22 - 22q11.21 [CytoView hg19]  KLHL22 - 22q11.21 [CytoView hg38]
Mapping of homologs : NCBIKLHL22 [Mapview hg19]  KLHL22 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AK024369 AK027266 AK222850 AK290669 AK294682
RefSeq transcript (Entrez)NM_032775
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KLHL22
Cluster EST : UnigeneHs.517419 [ NCBI ]
CGAP (NCI)Hs.517419
Alternative Splicing GalleryENSG00000099910
Gene ExpressionKLHL22 [ NCBI-GEO ]   KLHL22 [ EBI - ARRAY_EXPRESS ]   KLHL22 [ SEEK ]   KLHL22 [ MEM ]
Gene Expression Viewer (FireBrowse)KLHL22 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)84861
GTEX Portal (Tissue expression)KLHL22
Human Protein AtlasENSG00000099910-KLHL22 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ53GT1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ53GT1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ53GT1
Splice isoforms : SwissVarQ53GT1
PhosPhoSitePlusQ53GT1
Domaine pattern : Prosite (Expaxy)BTB (PS50097)   
Domains : Interpro (EBI)BACK    BTB-kelch_protein    BTB/POZ_dom    Kelch-typ_b-propeller    Kelch_1    KLHL22    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)KLHL22
DMDM Disease mutations84861
Blocks (Seattle)KLHL22
SuperfamilyQ53GT1
Human Protein Atlas [tissue]ENSG00000099910-KLHL22 [tissue]
Peptide AtlasQ53GT1
HPRD07858
IPIIPI00156791   IPI01011817   IPI00878473   IPI00878937   IPI00879086   IPI00879869   IPI00879442   IPI00760788   IPI00879700   
Protein Interaction databases
DIP (DOE-UCLA)Q53GT1
IntAct (EBI)Q53GT1
FunCoupENSG00000099910
BioGRIDKLHL22
STRING (EMBL)KLHL22
ZODIACKLHL22
Ontologies - Pathways
QuickGOQ53GT1
Ontology : AmiGOmitotic sister chromatid segregation  ubiquitin-protein transferase activity  protein binding  cytoplasm  centrosome  polar microtubule  protein monoubiquitination  mitotic spindle assembly checkpoint  Cul3-RING ubiquitin ligase complex  cell division  mitotic spindle  
Ontology : EGO-EBImitotic sister chromatid segregation  ubiquitin-protein transferase activity  protein binding  cytoplasm  centrosome  polar microtubule  protein monoubiquitination  mitotic spindle assembly checkpoint  Cul3-RING ubiquitin ligase complex  cell division  mitotic spindle  
NDEx NetworkKLHL22
Atlas of Cancer Signalling NetworkKLHL22
Wikipedia pathwaysKLHL22
Orthology - Evolution
OrthoDB84861
GeneTree (enSembl)ENSG00000099910
Phylogenetic Trees/Animal Genes : TreeFamKLHL22
HOVERGENQ53GT1
HOGENOMQ53GT1
Homologs : HomoloGeneKLHL22
Homology/Alignments : Family Browser (UCSC)KLHL22
Gene fusions - Rearrangements
Tumor Fusion PortalKLHL22
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKLHL22 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KLHL22
dbVarKLHL22
ClinVarKLHL22
1000_GenomesKLHL22 
Exome Variant ServerKLHL22
ExAC (Exome Aggregation Consortium)ENSG00000099910
GNOMAD BrowserENSG00000099910
Genetic variants : HAPMAP84861
Genomic Variants (DGV)KLHL22 [DGVbeta]
DECIPHERKLHL22 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKLHL22 
Mutations
ICGC Data PortalKLHL22 
TCGA Data PortalKLHL22 
Broad Tumor PortalKLHL22
OASIS PortalKLHL22 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKLHL22  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKLHL22
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 KLHL22
DgiDB (Drug Gene Interaction Database)KLHL22
DoCM (Curated mutations)KLHL22 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KLHL22 (select a term)
intoGenKLHL22
Cancer3DKLHL22(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETKLHL22
MedgenKLHL22
Genetic Testing Registry KLHL22
NextProtQ53GT1 [Medical]
TSGene84861
GENETestsKLHL22
Target ValidationKLHL22
Huge Navigator KLHL22 [HugePedia]
snp3D : Map Gene to Disease84861
BioCentury BCIQKLHL22
ClinGenKLHL22
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD84861
Chemical/Pharm GKB GenePA142671574
Clinical trialKLHL22
Miscellaneous
canSAR (ICR)KLHL22 (select the gene name)
Probes
Litterature
PubMed18 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKLHL22
EVEXKLHL22
GoPubMedKLHL22
iHOPKLHL22
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 : Tue Nov 21 13:43:47 CET 2017

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