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KLHDC2 (kelch domain containing 2)

Identity

Alias_symbol (synonym)HCLP-1
LCP
Other aliasHCLP1
HGNC (Hugo) KLHDC2
LocusID (NCBI) 23588
Atlas_Id 54415
Location 14q21.3  [Link to chromosome band 14q21]
Location_base_pair Starts at 49768069 and ends at 49783138 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)
KLHDC2 (14q21.3) / SNTB1 (8q24.12)

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(8;14)(q24;q21) KLHDC2/SNTB1

External links

Nomenclature
HGNC (Hugo)KLHDC2   20231
Cards
Entrez_Gene (NCBI)KLHDC2  23588  kelch domain containing 2
AliasesHCLP-1; HCLP1; LCP
GeneCards (Weizmann)KLHDC2
Ensembl hg19 (Hinxton)ENSG00000165516 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000165516 [Gene_View]  ENSG00000165516 [Sequence]  chr14:49768069-49783138 [Contig_View]  KLHDC2 [Vega]
ICGC DataPortalENSG00000165516
TCGA cBioPortalKLHDC2
AceView (NCBI)KLHDC2
Genatlas (Paris)KLHDC2
WikiGenes23588
SOURCE (Princeton)KLHDC2
Genetics Home Reference (NIH)KLHDC2
Genomic and cartography
GoldenPath hg38 (UCSC)KLHDC2  -     chr14:49768069-49783138 +  14q21.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KLHDC2  -     14q21.3   [Description]    (hg19-Feb_2009)
EnsemblKLHDC2 - 14q21.3 [CytoView hg19]  KLHDC2 - 14q21.3 [CytoView hg38]
Mapping of homologs : NCBIKLHDC2 [Mapview hg19]  KLHDC2 [Mapview hg38]
OMIM611280   
Gene and transcription
Genbank (Entrez)AF113131 AF244137 AK001771 AK056298 BC002335
RefSeq transcript (Entrez)NM_014315
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KLHDC2
Cluster EST : UnigeneHs.509264 [ NCBI ]
CGAP (NCI)Hs.509264
Alternative Splicing GalleryENSG00000165516
Gene ExpressionKLHDC2 [ NCBI-GEO ]   KLHDC2 [ EBI - ARRAY_EXPRESS ]   KLHDC2 [ SEEK ]   KLHDC2 [ MEM ]
Gene Expression Viewer (FireBrowse)KLHDC2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23588
GTEX Portal (Tissue expression)KLHDC2
Human Protein AtlasENSG00000165516-KLHDC2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y2U9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y2U9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y2U9
Splice isoforms : SwissVarQ9Y2U9
PhosPhoSitePlusQ9Y2U9
Domains : Interpro (EBI)Kelch-typ_b-propeller   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)KLHDC2
DMDM Disease mutations23588
Blocks (Seattle)KLHDC2
SuperfamilyQ9Y2U9
Human Protein Atlas [tissue]ENSG00000165516-KLHDC2 [tissue]
Peptide AtlasQ9Y2U9
HPRD08824
IPIIPI00003793   IPI00878805   IPI01026197   IPI01026419   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y2U9
IntAct (EBI)Q9Y2U9
FunCoupENSG00000165516
BioGRIDKLHDC2
STRING (EMBL)KLHDC2
ZODIACKLHDC2
Ontologies - Pathways
QuickGOQ9Y2U9
Ontology : AmiGOnucleus  nucleus  nuclear body  nuclear membrane  
Ontology : EGO-EBInucleus  nucleus  nuclear body  nuclear membrane  
NDEx NetworkKLHDC2
Atlas of Cancer Signalling NetworkKLHDC2
Wikipedia pathwaysKLHDC2
Orthology - Evolution
OrthoDB23588
GeneTree (enSembl)ENSG00000165516
Phylogenetic Trees/Animal Genes : TreeFamKLHDC2
HOVERGENQ9Y2U9
HOGENOMQ9Y2U9
Homologs : HomoloGeneKLHDC2
Homology/Alignments : Family Browser (UCSC)KLHDC2
Gene fusions - Rearrangements
Fusion : MitelmanKLHDC2/SNTB1 [14q21.3/8q24.12]  
Fusion : QuiverKLHDC2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKLHDC2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KLHDC2
dbVarKLHDC2
ClinVarKLHDC2
1000_GenomesKLHDC2 
Exome Variant ServerKLHDC2
ExAC (Exome Aggregation Consortium)ENSG00000165516
GNOMAD BrowserENSG00000165516
Varsome BrowserKLHDC2
Genetic variants : HAPMAP23588
Genomic Variants (DGV)KLHDC2 [DGVbeta]
DECIPHERKLHDC2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKLHDC2 
Mutations
ICGC Data PortalKLHDC2 
TCGA Data PortalKLHDC2 
Broad Tumor PortalKLHDC2
OASIS PortalKLHDC2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKLHDC2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKLHDC2
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 KLHDC2
DgiDB (Drug Gene Interaction Database)KLHDC2
DoCM (Curated mutations)KLHDC2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KLHDC2 (select a term)
intoGenKLHDC2
Cancer3DKLHDC2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611280   
Orphanet
DisGeNETKLHDC2
MedgenKLHDC2
Genetic Testing Registry KLHDC2
NextProtQ9Y2U9 [Medical]
TSGene23588
GENETestsKLHDC2
Target ValidationKLHDC2
Huge Navigator KLHDC2 [HugePedia]
snp3D : Map Gene to Disease23588
BioCentury BCIQKLHDC2
ClinGenKLHDC2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23588
Chemical/Pharm GKB GenePA134924955
Clinical trialKLHDC2
Miscellaneous
canSAR (ICR)KLHDC2 (select the gene name)
Probes
Litterature
PubMed18 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKLHDC2
EVEXKLHDC2
GoPubMedKLHDC2
iHOPKLHDC2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Aug 27 11:30:54 CEST 2018
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