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KLHL30 (kelch like family member 30)

Identity

Alias_nameskelch-like 30 (Drosophila)
Alias_symbol (synonym)FLJ43374
Other alias-
HGNC (Hugo) KLHL30
LocusID (NCBI) 377007
Atlas_Id 64973
Location 2q37.3  [Link to chromosome band 2q37]
Location_base_pair Starts at 238138722 and ends at 238152906 bp from pter ( according to hg38-Dec_2013)

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)KLHL30   24770
Cards
Entrez_Gene (NCBI)KLHL30  377007  kelch like family member 30
Aliases
GeneCards (Weizmann)KLHL30
Ensembl hg19 (Hinxton)ENSG00000168427 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000168427 [Gene_View]  chr2:238138722-238152906 [Contig_View]  KLHL30 [Vega]
ICGC DataPortalENSG00000168427
TCGA cBioPortalKLHL30
AceView (NCBI)KLHL30
Genatlas (Paris)KLHL30
WikiGenes377007
SOURCE (Princeton)KLHL30
Genetics Home Reference (NIH)KLHL30
Genomic and cartography
GoldenPath hg38 (UCSC)KLHL30  -     chr2:238138722-238152906 +  2q37.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KLHL30  -     2q37.3   [Description]    (hg19-Feb_2009)
EnsemblKLHL30 - 2q37.3 [CytoView hg19]  KLHL30 - 2q37.3 [CytoView hg38]
Mapping of homologs : NCBIKLHL30 [Mapview hg19]  KLHL30 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AK125364 BC103703 BC104749 BC105696 BX280405
RefSeq transcript (Entrez)NM_198582
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KLHL30
Cluster EST : UnigeneHs.591595 [ NCBI ]
CGAP (NCI)Hs.591595
Alternative Splicing GalleryENSG00000168427
Gene ExpressionKLHL30 [ NCBI-GEO ]   KLHL30 [ EBI - ARRAY_EXPRESS ]   KLHL30 [ SEEK ]   KLHL30 [ MEM ]
Gene Expression Viewer (FireBrowse)KLHL30 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)377007
GTEX Portal (Tissue expression)KLHL30
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ0D2K2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ0D2K2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ0D2K2
Splice isoforms : SwissVarQ0D2K2
PhosPhoSitePlusQ0D2K2
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   
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)KLHL30
DMDM Disease mutations377007
Blocks (Seattle)KLHL30
SuperfamilyQ0D2K2
Human Protein AtlasENSG00000168427
Peptide AtlasQ0D2K2
HPRD13472
IPIIPI00783703   IPI00941655   IPI00930691   
Protein Interaction databases
DIP (DOE-UCLA)Q0D2K2
IntAct (EBI)Q0D2K2
FunCoupENSG00000168427
BioGRIDKLHL30
STRING (EMBL)KLHL30
ZODIACKLHL30
Ontologies - Pathways
QuickGOQ0D2K2
Ontology : AmiGOubiquitin-protein transferase activity  protein ubiquitination  Cul3-RING ubiquitin ligase complex  
Ontology : EGO-EBIubiquitin-protein transferase activity  protein ubiquitination  Cul3-RING ubiquitin ligase complex  
NDEx NetworkKLHL30
Atlas of Cancer Signalling NetworkKLHL30
Wikipedia pathwaysKLHL30
Orthology - Evolution
OrthoDB377007
GeneTree (enSembl)ENSG00000168427
Phylogenetic Trees/Animal Genes : TreeFamKLHL30
HOVERGENQ0D2K2
HOGENOMQ0D2K2
Homologs : HomoloGeneKLHL30
Homology/Alignments : Family Browser (UCSC)KLHL30
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKLHL30 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KLHL30
dbVarKLHL30
ClinVarKLHL30
1000_GenomesKLHL30 
Exome Variant ServerKLHL30
ExAC (Exome Aggregation Consortium)KLHL30 (select the gene name)
Genetic variants : HAPMAP377007
Genomic Variants (DGV)KLHL30 [DGVbeta]
DECIPHERKLHL30 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKLHL30 
Mutations
ICGC Data PortalKLHL30 
TCGA Data PortalKLHL30 
Broad Tumor PortalKLHL30
OASIS PortalKLHL30 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKLHL30  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKLHL30
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 KLHL30
DgiDB (Drug Gene Interaction Database)KLHL30
DoCM (Curated mutations)KLHL30 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KLHL30 (select a term)
intoGenKLHL30
Cancer3DKLHL30(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenKLHL30
Genetic Testing Registry KLHL30
NextProtQ0D2K2 [Medical]
TSGene377007
GENETestsKLHL30
Huge Navigator KLHL30 [HugePedia]
snp3D : Map Gene to Disease377007
BioCentury BCIQKLHL30
ClinGenKLHL30
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD377007
Chemical/Pharm GKB GenePA162393522
Clinical trialKLHL30
Miscellaneous
canSAR (ICR)KLHL30 (select the gene name)
Probes
Litterature
PubMed4 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKLHL30
EVEXKLHL30
GoPubMedKLHL30
iHOPKLHL30
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 May 19 11:18:17 CEST 2017

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