Atlas of Genetics and Cytogenetics in Oncology and Haematology

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KLHL2 (kelch like family member 2)

Identity

Alias_nameskelch (Drosophila)-like 2 (Mayven)
kelch-like 2, Mayven (Drosophila)
Alias_symbol (synonym)MAV
Other aliasABP-KELCH
MAYVEN
HGNC (Hugo) KLHL2
LocusID (NCBI) 11275
Atlas_Id 46593
Location 4q32.3  [Link to chromosome band 4q32]
Location_base_pair Starts at 165207618 and ends at 165323156 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)KLHL2   6353
Cards
Entrez_Gene (NCBI)KLHL2  11275  kelch like family member 2
AliasesABP-KELCH; MAV; MAYVEN
GeneCards (Weizmann)KLHL2
Ensembl hg19 (Hinxton)ENSG00000109466 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000109466 [Gene_View]  ENSG00000109466 [Sequence]  chr4:165207618-165323156 [Contig_View]  KLHL2 [Vega]
ICGC DataPortalENSG00000109466
TCGA cBioPortalKLHL2
AceView (NCBI)KLHL2
Genatlas (Paris)KLHL2
WikiGenes11275
SOURCE (Princeton)KLHL2
Genetics Home Reference (NIH)KLHL2
Genomic and cartography
GoldenPath hg38 (UCSC)KLHL2  -     chr4:165207618-165323156 +  4q32.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KLHL2  -     4q32.3   [Description]    (hg19-Feb_2009)
GoldenPathKLHL2 - 4q32.3 [CytoView hg19]  KLHL2 - 4q32.3 [CytoView hg38]
ImmunoBaseENSG00000109466
Mapping of homologs : NCBIKLHL2 [Mapview hg19]  KLHL2 [Mapview hg38]
OMIM605774   
Gene and transcription
Genbank (Entrez)AB209727 AF059569 AI814691 AK025289 AK294103
RefSeq transcript (Entrez)NM_001161521 NM_001161522 NM_001331023 NM_001331024 NM_007246
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KLHL2
Cluster EST : UnigeneHs.388668 [ NCBI ]
CGAP (NCI)Hs.388668
Alternative Splicing GalleryENSG00000109466
Gene ExpressionKLHL2 [ NCBI-GEO ]   KLHL2 [ EBI - ARRAY_EXPRESS ]   KLHL2 [ SEEK ]   KLHL2 [ MEM ]
Gene Expression Viewer (FireBrowse)KLHL2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)11275
GTEX Portal (Tissue expression)KLHL2
Human Protein AtlasENSG00000109466-KLHL2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO95198   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO95198  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO95198
Splice isoforms : SwissVarO95198
PhosPhoSitePlusO95198
Domaine pattern : Prosite (Expaxy)BTB (PS50097)   
Domains : Interpro (EBI)BACK    BTB-kelch_protein    BTB/POZ_dom    Kelch-typ_b-propeller    Kelch_1    SKP1/BTB/POZ_sf   
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)KLHL2
DMDM Disease mutations11275
Blocks (Seattle)KLHL2
PDB (RSDB)2XN4    4CHB   
PDB Europe2XN4    4CHB   
PDB (PDBSum)2XN4    4CHB   
PDB (IMB)2XN4    4CHB   
Structural Biology KnowledgeBase2XN4    4CHB   
SCOP (Structural Classification of Proteins)2XN4    4CHB   
CATH (Classification of proteins structures)2XN4    4CHB   
SuperfamilyO95198
Human Protein Atlas [tissue]ENSG00000109466-KLHL2 [tissue]
Peptide AtlasO95198
HPRD09311
IPIIPI00296591   IPI00936343   IPI00966733   IPI00938152   IPI00966521   IPI00965376   IPI00965819   
Protein Interaction databases
DIP (DOE-UCLA)O95198
IntAct (EBI)O95198
FunCoupENSG00000109466
BioGRIDKLHL2
STRING (EMBL)KLHL2
ZODIACKLHL2
Ontologies - Pathways
QuickGOO95198
Ontology : AmiGOruffle  actin binding  protein binding  cytoplasm  cytosol  actin cytoskeleton  protein ubiquitination  lamellipodium  Cul3-RING ubiquitin ligase complex  identical protein binding  post-translational protein modification  
Ontology : EGO-EBIruffle  actin binding  protein binding  cytoplasm  cytosol  actin cytoskeleton  protein ubiquitination  lamellipodium  Cul3-RING ubiquitin ligase complex  identical protein binding  post-translational protein modification  
NDEx NetworkKLHL2
Atlas of Cancer Signalling NetworkKLHL2
Wikipedia pathwaysKLHL2
Orthology - Evolution
OrthoDB11275
GeneTree (enSembl)ENSG00000109466
Phylogenetic Trees/Animal Genes : TreeFamKLHL2
HOGENOMO95198
Homologs : HomoloGeneKLHL2
Homology/Alignments : Family Browser (UCSC)KLHL2
Gene fusions - Rearrangements
Fusion : QuiverKLHL2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKLHL2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KLHL2
dbVarKLHL2
ClinVarKLHL2
1000_GenomesKLHL2 
Exome Variant ServerKLHL2
ExAC (Exome Aggregation Consortium)ENSG00000109466
GNOMAD BrowserENSG00000109466
Varsome BrowserKLHL2
Genetic variants : HAPMAP11275
Genomic Variants (DGV)KLHL2 [DGVbeta]
DECIPHERKLHL2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKLHL2 
Mutations
ICGC Data PortalKLHL2 
TCGA Data PortalKLHL2 
Broad Tumor PortalKLHL2
OASIS PortalKLHL2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKLHL2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DKLHL2
Mutations and Diseases : HGMDKLHL2
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 KLHL2
DgiDB (Drug Gene Interaction Database)KLHL2
DoCM (Curated mutations)KLHL2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KLHL2 (select a term)
intoGenKLHL2
Cancer3DKLHL2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605774   
Orphanet
DisGeNETKLHL2
MedgenKLHL2
Genetic Testing Registry KLHL2
NextProtO95198 [Medical]
TSGene11275
GENETestsKLHL2
Target ValidationKLHL2
Huge Navigator KLHL2 [HugePedia]
snp3D : Map Gene to Disease11275
BioCentury BCIQKLHL2
ClinGenKLHL2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD11275
Chemical/Pharm GKB GenePA30143
Clinical trialKLHL2
Miscellaneous
canSAR (ICR)KLHL2 (select the gene name)
DataMed IndexKLHL2
Probes
Litterature
PubMed29 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKLHL2
EVEXKLHL2
GoPubMedKLHL2
iHOPKLHL2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Nov 13 17:49:50 CET 2019
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