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KLHL12 (kelch like family member 12)

Identity

Alias_nameskelch-like 12 (Drosophila)
Alias_symbol (synonym)C3IP1
Other aliasDKIR
HGNC (Hugo) KLHL12
LocusID (NCBI) 59349
Atlas_Id 64960
Location 1q32.1  [Link to chromosome band 1q32]
Location_base_pair Starts at 202891096 and ends at 202928644 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
RPL37A (2q35) / KLHL12 (1q32.1)

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)KLHL12   19360
Cards
Entrez_Gene (NCBI)KLHL12  59349  kelch like family member 12
AliasesC3IP1; DKIR
GeneCards (Weizmann)KLHL12
Ensembl hg19 (Hinxton)ENSG00000117153 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000117153 [Gene_View]  chr1:202891096-202928644 [Contig_View]  KLHL12 [Vega]
ICGC DataPortalENSG00000117153
TCGA cBioPortalKLHL12
AceView (NCBI)KLHL12
Genatlas (Paris)KLHL12
WikiGenes59349
SOURCE (Princeton)KLHL12
Genetics Home Reference (NIH)KLHL12
Genomic and cartography
GoldenPath hg38 (UCSC)KLHL12  -     chr1:202891096-202928644 -  1q32.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KLHL12  -     1q32.1   [Description]    (hg19-Feb_2009)
EnsemblKLHL12 - 1q32.1 [CytoView hg19]  KLHL12 - 1q32.1 [CytoView hg38]
Mapping of homologs : NCBIKLHL12 [Mapview hg19]  KLHL12 [Mapview hg38]
OMIM614522   
Gene and transcription
Genbank (Entrez)AF190900 AF306687 AF306689 AK024412 AK027656
RefSeq transcript (Entrez)NM_001303051 NM_001303109 NM_021633
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KLHL12
Cluster EST : UnigeneHs.706793 [ NCBI ]
CGAP (NCI)Hs.706793
Alternative Splicing GalleryENSG00000117153
Gene ExpressionKLHL12 [ NCBI-GEO ]   KLHL12 [ EBI - ARRAY_EXPRESS ]   KLHL12 [ SEEK ]   KLHL12 [ MEM ]
Gene Expression Viewer (FireBrowse)KLHL12 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)59349
GTEX Portal (Tissue expression)KLHL12
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ53G59   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ53G59  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ53G59
Splice isoforms : SwissVarQ53G59
PhosPhoSitePlusQ53G59
Domaine pattern : Prosite (Expaxy)BTB (PS50097)   
Domains : Interpro (EBI)BACK    BTB-kelch_protein    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)KLHL12
DMDM Disease mutations59349
Blocks (Seattle)KLHL12
PDB (SRS)2VPJ   
PDB (PDBSum)2VPJ   
PDB (IMB)2VPJ   
PDB (RSDB)2VPJ   
Structural Biology KnowledgeBase2VPJ   
SCOP (Structural Classification of Proteins)2VPJ   
CATH (Classification of proteins structures)2VPJ   
SuperfamilyQ53G59
Human Protein AtlasENSG00000117153
Peptide AtlasQ53G59
HPRD13925
IPIIPI01011837   IPI00642182   IPI00647373   
Protein Interaction databases
DIP (DOE-UCLA)Q53G59
IntAct (EBI)Q53G59
FunCoupENSG00000117153
BioGRIDKLHL12
STRING (EMBL)KLHL12
ZODIACKLHL12
Ontologies - Pathways
QuickGOQ53G59
Ontology : AmiGOGolgi membrane  ubiquitin-protein transferase activity  protein binding  microtubule organizing center  cytosol  protein monoubiquitination  ER to Golgi vesicle-mediated transport  ER to Golgi vesicle-mediated transport  neural crest formation  neural crest cell development  Wnt signaling pathway  COPII vesicle coat  ER to Golgi transport vesicle  Cul3-RING ubiquitin ligase complex  identical protein binding  intracellular membrane-bounded organelle  COPII vesicle coating  negative regulation of canonical Wnt signaling pathway  
Ontology : EGO-EBIGolgi membrane  ubiquitin-protein transferase activity  protein binding  microtubule organizing center  cytosol  protein monoubiquitination  ER to Golgi vesicle-mediated transport  ER to Golgi vesicle-mediated transport  neural crest formation  neural crest cell development  Wnt signaling pathway  COPII vesicle coat  ER to Golgi transport vesicle  Cul3-RING ubiquitin ligase complex  identical protein binding  intracellular membrane-bounded organelle  COPII vesicle coating  negative regulation of canonical Wnt signaling pathway  
NDEx NetworkKLHL12
Atlas of Cancer Signalling NetworkKLHL12
Wikipedia pathwaysKLHL12
Orthology - Evolution
OrthoDB59349
GeneTree (enSembl)ENSG00000117153
Phylogenetic Trees/Animal Genes : TreeFamKLHL12
HOVERGENQ53G59
HOGENOMQ53G59
Homologs : HomoloGeneKLHL12
Homology/Alignments : Family Browser (UCSC)KLHL12
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKLHL12 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KLHL12
dbVarKLHL12
ClinVarKLHL12
1000_GenomesKLHL12 
Exome Variant ServerKLHL12
ExAC (Exome Aggregation Consortium)KLHL12 (select the gene name)
Genetic variants : HAPMAP59349
Genomic Variants (DGV)KLHL12 [DGVbeta]
DECIPHERKLHL12 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKLHL12 
Mutations
ICGC Data PortalKLHL12 
TCGA Data PortalKLHL12 
Broad Tumor PortalKLHL12
OASIS PortalKLHL12 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKLHL12  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKLHL12
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 KLHL12
DgiDB (Drug Gene Interaction Database)KLHL12
DoCM (Curated mutations)KLHL12 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KLHL12 (select a term)
intoGenKLHL12
Cancer3DKLHL12(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM614522   
Orphanet
MedgenKLHL12
Genetic Testing Registry KLHL12
NextProtQ53G59 [Medical]
TSGene59349
GENETestsKLHL12
Target ValidationKLHL12
Huge Navigator KLHL12 [HugePedia]
snp3D : Map Gene to Disease59349
BioCentury BCIQKLHL12
ClinGenKLHL12
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD59349
Chemical/Pharm GKB GenePA134952416
Clinical trialKLHL12
Miscellaneous
canSAR (ICR)KLHL12 (select the gene name)
Probes
Litterature
PubMed36 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKLHL12
EVEXKLHL12
GoPubMedKLHL12
iHOPKLHL12
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 : Mon Sep 18 13:12:00 CEST 2017

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