Atlas of Genetics and Cytogenetics in Oncology and Haematology


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KLHL4 (kelch like family member 4)

Identity

Alias_nameskelch (Drosophila)-like 4
kelch-like 4 (Drosophila)
Alias_symbol (synonym)KIAA1687
DKELCHL
KHL4
Other alias
HGNC (Hugo) KLHL4
LocusID (NCBI) 56062
Atlas_Id 64981
Location Xq21.31  [Link to chromosome band Xq21]
Location_base_pair Starts at 87517712 and ends at 87670050 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)
CHM (Xq21.2) / KLHL4 (Xq21.31)

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)KLHL4   6355
Cards
Entrez_Gene (NCBI)KLHL4  56062  kelch like family member 4
AliasesDKELCHL; KHL4
GeneCards (Weizmann)KLHL4
Ensembl hg19 (Hinxton)ENSG00000102271 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000102271 [Gene_View]  chrX:87517712-87670050 [Contig_View]  KLHL4 [Vega]
ICGC DataPortalENSG00000102271
TCGA cBioPortalKLHL4
AceView (NCBI)KLHL4
Genatlas (Paris)KLHL4
WikiGenes56062
SOURCE (Princeton)KLHL4
Genetics Home Reference (NIH)KLHL4
Genomic and cartography
GoldenPath hg38 (UCSC)KLHL4  -     chrX:87517712-87670050 +  Xq21.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KLHL4  -     Xq21.31   [Description]    (hg19-Feb_2009)
EnsemblKLHL4 - Xq21.31 [CytoView hg19]  KLHL4 - Xq21.31 [CytoView hg38]
Mapping of homologs : NCBIKLHL4 [Mapview hg19]  KLHL4 [Mapview hg38]
OMIM300348   
Gene and transcription
Genbank (Entrez)AB051474 AF284765 AF284766 AK022715 AK023057
RefSeq transcript (Entrez)NM_019117 NM_057162
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KLHL4
Cluster EST : UnigeneHs.49075 [ NCBI ]
CGAP (NCI)Hs.49075
Alternative Splicing GalleryENSG00000102271
Gene ExpressionKLHL4 [ NCBI-GEO ]   KLHL4 [ EBI - ARRAY_EXPRESS ]   KLHL4 [ SEEK ]   KLHL4 [ MEM ]
Gene Expression Viewer (FireBrowse)KLHL4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)56062
GTEX Portal (Tissue expression)KLHL4
Human Protein AtlasENSG00000102271-KLHL4 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9C0H6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9C0H6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9C0H6
Splice isoforms : SwissVarQ9C0H6
PhosPhoSitePlusQ9C0H6
Domaine pattern : Prosite (Expaxy)BTB (PS50097)   
Domains : Interpro (EBI)BACK    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)KLHL4
DMDM Disease mutations56062
Blocks (Seattle)KLHL4
SuperfamilyQ9C0H6
Human Protein Atlas [tissue]ENSG00000102271-KLHL4 [tissue]
Peptide AtlasQ9C0H6
HPRD02283
IPIIPI00028464   IPI00219414   
Protein Interaction databases
DIP (DOE-UCLA)Q9C0H6
IntAct (EBI)Q9C0H6
FunCoupENSG00000102271
BioGRIDKLHL4
STRING (EMBL)KLHL4
ZODIACKLHL4
Ontologies - Pathways
QuickGOQ9C0H6
Ontology : AmiGOmolecular_function  actin binding  ubiquitin-protein transferase activity  cytoplasm  microtubule organizing center  biological_process  microtubule cytoskeleton  protein ubiquitination  Cul3-RING ubiquitin ligase complex  
Ontology : EGO-EBImolecular_function  actin binding  ubiquitin-protein transferase activity  cytoplasm  microtubule organizing center  biological_process  microtubule cytoskeleton  protein ubiquitination  Cul3-RING ubiquitin ligase complex  
NDEx NetworkKLHL4
Atlas of Cancer Signalling NetworkKLHL4
Wikipedia pathwaysKLHL4
Orthology - Evolution
OrthoDB56062
GeneTree (enSembl)ENSG00000102271
Phylogenetic Trees/Animal Genes : TreeFamKLHL4
HOVERGENQ9C0H6
HOGENOMQ9C0H6
Homologs : HomoloGeneKLHL4
Homology/Alignments : Family Browser (UCSC)KLHL4
Gene fusions - Rearrangements
Tumor Fusion PortalKLHL4
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKLHL4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KLHL4
dbVarKLHL4
ClinVarKLHL4
1000_GenomesKLHL4 
Exome Variant ServerKLHL4
ExAC (Exome Aggregation Consortium)ENSG00000102271
GNOMAD BrowserENSG00000102271
Genetic variants : HAPMAP56062
Genomic Variants (DGV)KLHL4 [DGVbeta]
DECIPHERKLHL4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKLHL4 
Mutations
ICGC Data PortalKLHL4 
TCGA Data PortalKLHL4 
Broad Tumor PortalKLHL4
OASIS PortalKLHL4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKLHL4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKLHL4
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
LOVD (Leiden Open Variation Database)X-chromosome gene database
BioMutasearch KLHL4
DgiDB (Drug Gene Interaction Database)KLHL4
DoCM (Curated mutations)KLHL4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KLHL4 (select a term)
intoGenKLHL4
Cancer3DKLHL4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300348   
Orphanet
DisGeNETKLHL4
MedgenKLHL4
Genetic Testing Registry KLHL4
NextProtQ9C0H6 [Medical]
TSGene56062
GENETestsKLHL4
Target ValidationKLHL4
Huge Navigator KLHL4 [HugePedia]
snp3D : Map Gene to Disease56062
BioCentury BCIQKLHL4
ClinGenKLHL4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD56062
Chemical/Pharm GKB GenePA30145
Clinical trialKLHL4
Miscellaneous
canSAR (ICR)KLHL4 (select the gene name)
Probes
Litterature
PubMed11 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKLHL4
EVEXKLHL4
GoPubMedKLHL4
iHOPKLHL4
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 13:59:50 CET 2017

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