Atlas of Genetics and Cytogenetics in Oncology and Haematology


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KCTD12 (potassium channel tetramerization domain containing 12)

Identity

Alias_namesC13orf2
chromosome 13 open reading frame 2
potassium channel tetramerisation domain containing 12
Alias_symbol (synonym)KIAA1778
PFET1
Other aliasPFETIN
HGNC (Hugo) KCTD12
LocusID (NCBI) 115207
Atlas_Id 50151
Location 13q22.3  [Link to chromosome band 13q22]
Location_base_pair Starts at 76880169 and ends at 76886405 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
KCTD12 (13q22.3) / MATN2 (8q22.1)KCTD12 (13q22.3) / ROBO2 (3p12.3)RNASE1 (14q11.2) / KCTD12 (13q22.3)
TLN1 (9p13.3) / KCTD12 (13q22.3)

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)KCTD12   14678
Cards
Entrez_Gene (NCBI)KCTD12  115207  potassium channel tetramerization domain containing 12
AliasesC13orf2; PFET1; PFETIN
GeneCards (Weizmann)KCTD12
Ensembl hg19 (Hinxton)ENSG00000178695 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000178695 [Gene_View]  chr13:76880169-76886405 [Contig_View]  KCTD12 [Vega]
ICGC DataPortalENSG00000178695
TCGA cBioPortalKCTD12
AceView (NCBI)KCTD12
Genatlas (Paris)KCTD12
WikiGenes115207
SOURCE (Princeton)KCTD12
Genetics Home Reference (NIH)KCTD12
Genomic and cartography
GoldenPath hg38 (UCSC)KCTD12  -     chr13:76880169-76886405 -  13q22.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KCTD12  -     13q22.3   [Description]    (hg19-Feb_2009)
EnsemblKCTD12 - 13q22.3 [CytoView hg19]  KCTD12 - 13q22.3 [CytoView hg38]
Mapping of homologs : NCBIKCTD12 [Mapview hg19]  KCTD12 [Mapview hg38]
OMIM610521   
Gene and transcription
Genbank (Entrez)AF052169 AF359381 AK057635 AK128363 BC013764
RefSeq transcript (Entrez)NM_138444
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KCTD12
Cluster EST : UnigeneHs.644125 [ NCBI ]
CGAP (NCI)Hs.644125
Alternative Splicing GalleryENSG00000178695
Gene ExpressionKCTD12 [ NCBI-GEO ]   KCTD12 [ EBI - ARRAY_EXPRESS ]   KCTD12 [ SEEK ]   KCTD12 [ MEM ]
Gene Expression Viewer (FireBrowse)KCTD12 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)115207
GTEX Portal (Tissue expression)KCTD12
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96CX2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96CX2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96CX2
Splice isoforms : SwissVarQ96CX2
PhosPhoSitePlusQ96CX2
Domains : Interpro (EBI)BTB/POZ_dom    SKP1/BTB/POZ    T1-type_BTB   
Domain families : Pfam (Sanger)BTB_2 (PF02214)   
Domain families : Pfam (NCBI)pfam02214   
Domain families : Smart (EMBL)BTB (SM00225)  
Conserved Domain (NCBI)KCTD12
DMDM Disease mutations115207
Blocks (Seattle)KCTD12
SuperfamilyQ96CX2
Human Protein AtlasENSG00000178695
Peptide AtlasQ96CX2
HPRD11060
IPIIPI00060715   
Protein Interaction databases
DIP (DOE-UCLA)Q96CX2
IntAct (EBI)Q96CX2
FunCoupENSG00000178695
BioGRIDKCTD12
STRING (EMBL)KCTD12
ZODIACKCTD12
Ontologies - Pathways
QuickGOQ96CX2
Ontology : AmiGORNA binding  cell junction  presynaptic membrane  identical protein binding  postsynaptic membrane  protein homooligomerization  extracellular exosome  
Ontology : EGO-EBIRNA binding  cell junction  presynaptic membrane  identical protein binding  postsynaptic membrane  protein homooligomerization  extracellular exosome  
NDEx NetworkKCTD12
Atlas of Cancer Signalling NetworkKCTD12
Wikipedia pathwaysKCTD12
Orthology - Evolution
OrthoDB115207
GeneTree (enSembl)ENSG00000178695
Phylogenetic Trees/Animal Genes : TreeFamKCTD12
HOVERGENQ96CX2
HOGENOMQ96CX2
Homologs : HomoloGeneKCTD12
Homology/Alignments : Family Browser (UCSC)KCTD12
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKCTD12 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KCTD12
dbVarKCTD12
ClinVarKCTD12
1000_GenomesKCTD12 
Exome Variant ServerKCTD12
ExAC (Exome Aggregation Consortium)KCTD12 (select the gene name)
Genetic variants : HAPMAP115207
Genomic Variants (DGV)KCTD12 [DGVbeta]
DECIPHERKCTD12 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKCTD12 
Mutations
ICGC Data PortalKCTD12 
TCGA Data PortalKCTD12 
Broad Tumor PortalKCTD12
OASIS PortalKCTD12 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKCTD12  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKCTD12
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch KCTD12
DgiDB (Drug Gene Interaction Database)KCTD12
DoCM (Curated mutations)KCTD12 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KCTD12 (select a term)
intoGenKCTD12
Cancer3DKCTD12(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610521   
Orphanet
MedgenKCTD12
Genetic Testing Registry KCTD12
NextProtQ96CX2 [Medical]
TSGene115207
GENETestsKCTD12
Target ValidationKCTD12
Huge Navigator KCTD12 [HugePedia]
snp3D : Map Gene to Disease115207
BioCentury BCIQKCTD12
ClinGenKCTD12
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD115207
Chemical/Pharm GKB GenePA25512
Clinical trialKCTD12
Miscellaneous
canSAR (ICR)KCTD12 (select the gene name)
Probes
Litterature
PubMed32 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKCTD12
EVEXKCTD12
GoPubMedKCTD12
iHOPKCTD12
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 17:04:34 CEST 2017

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