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KCNIP3 (Kv channel interacting protein 3, calsenilin)

Identity

Other namesCSEN
DREAM
KCHIP3
HGNC (Hugo) KCNIP3
LocusID (NCBI) 30818
Location 2q11.1
Location_base_pair Starts at 96012768 and ends at 96051825 bp from pter ( according to hg19-Feb_2009)
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)KCNIP3   15523
Cards
Entrez_Gene (NCBI)KCNIP3  30818  Kv channel interacting protein 3, calsenilin
GeneCards (Weizmann)KCNIP3
Ensembl hg19 (Hinxton)ENSG00000115041 [Gene_View]  chr2:96012768-96051825 [Contig_View]  KCNIP3 [Vega]
Ensembl hg38 (Hinxton)ENSG00000115041 [Gene_View]  chr2:96012768-96051825 [Contig_View]  KCNIP3 [Vega]
ICGC DataPortalENSG00000115041
cBioPortalKCNIP3
AceView (NCBI)KCNIP3
Genatlas (Paris)KCNIP3
WikiGenes30818
SOURCE (Princeton)KCNIP3
Genomic and cartography
GoldenPath hg19 (UCSC)KCNIP3  -     chr2:96012768-96051825 +  2q11.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)KCNIP3  -     2q11.1   [Description]    (hg38-Dec_2013)
EnsemblKCNIP3 - 2q11.1 [CytoView hg19]  KCNIP3 - 2q11.1 [CytoView hg38]
Mapping of homologs : NCBIKCNIP3 [Mapview hg19]  KCNIP3 [Mapview hg38]
OMIM604662   
Gene and transcription
Genbank (Entrez)AF120102 AF199599 AF367022 AJ131730 AJ131730
RefSeq transcript (Entrez)NM_001034914 NM_013434
RefSeq genomic (Entrez)AC_000134 NC_000002 NC_018913 NT_005403 NW_001838807 NW_004929303
Consensus coding sequences : CCDS (NCBI)KCNIP3
Cluster EST : UnigeneHs.437376 [ NCBI ]
CGAP (NCI)Hs.437376
Alternative Splicing : Fast-db (Paris)GSHG0016670
Alternative Splicing GalleryENSG00000115041
Gene ExpressionKCNIP3 [ NCBI-GEO ]     KCNIP3 [ SEEK ]   KCNIP3 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y2W7 (Uniprot)
NextProtQ9Y2W7  [Medical]
With graphics : InterProQ9Y2W7
Splice isoforms : SwissVarQ9Y2W7 (Swissvar)
Domaine pattern : Prosite (Expaxy)EF_HAND_1 (PS00018)    EF_HAND_2 (PS50222)   
Domains : Interpro (EBI)EF-hand-dom_pair    EF_Hand_1_Ca_BS    EF_hand_dom    Recoverin   
Related proteins : CluSTrQ9Y2W7
Domain families : Pfam (Sanger)EF-hand_7 (PF13499)   
Domain families : Pfam (NCBI)pfam13499   
Domain families : Smart (EMBL)EFh (SM00054)  
DMDM Disease mutations30818
Blocks (Seattle)Q9Y2W7
PDB (SRS)2E6W   
PDB (PDBSum)2E6W   
PDB (IMB)2E6W   
PDB (RSDB)2E6W   
Human Protein AtlasENSG00000115041
Peptide AtlasQ9Y2W7
HPRD05232
IPIIPI00294320   IPI00045895   IPI00651627   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y2W7
IntAct (EBI)Q9Y2W7
FunCoupENSG00000115041
BioGRIDKCNIP3
IntegromeDBKCNIP3
STRING (EMBL)KCNIP3
Ontologies - Pathways
QuickGOQ9Y2W7
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  DNA binding  transcription corepressor activity  voltage-gated ion channel activity  potassium channel activity  calcium ion binding  nucleus  endoplasmic reticulum  Golgi apparatus  cytosol  plasma membrane  transcription, DNA-templated  regulation of transcription from RNA polymerase II promoter  intracellular protein transport  apoptotic process  signal transduction  protein C-terminus binding  potassium channel regulator activity  sensory perception of pain  dendrite  protein-DNA complex  regulation of ion transmembrane transport  regulation of neuron apoptotic process  sequence-specific DNA binding  axon terminus  ion channel binding  behavioral response to pain  calcium-dependent protein binding  potassium ion transmembrane transport  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  DNA binding  transcription corepressor activity  voltage-gated ion channel activity  potassium channel activity  calcium ion binding  nucleus  endoplasmic reticulum  Golgi apparatus  cytosol  plasma membrane  transcription, DNA-templated  regulation of transcription from RNA polymerase II promoter  intracellular protein transport  apoptotic process  signal transduction  protein C-terminus binding  potassium channel regulator activity  sensory perception of pain  dendrite  protein-DNA complex  regulation of ion transmembrane transport  regulation of neuron apoptotic process  sequence-specific DNA binding  axon terminus  ion channel binding  behavioral response to pain  calcium-dependent protein binding  potassium ion transmembrane transport  
Pathways : BIOCARTARepression of Pain Sensation by the Transcriptional Regulator DREAM [Genes]   
Protein Interaction DatabaseKCNIP3
DoCM (Curated mutations)KCNIP3
Wikipedia pathwaysKCNIP3
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerKCNIP3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KCNIP3
dbVarKCNIP3
ClinVarKCNIP3
1000_GenomesKCNIP3 
Exome Variant ServerKCNIP3
SNP (GeneSNP Utah)KCNIP3
SNP : HGBaseKCNIP3
Genetic variants : HAPMAPKCNIP3
Genomic VariantsKCNIP3  KCNIP3 [DGVbeta]
Mutations
ICGC Data PortalENSG00000115041 
Somatic Mutations in Cancer : COSMICKCNIP3 
CONAN: Copy Number AnalysisKCNIP3 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)2:96012768-96051825
Mutations and Diseases : HGMDKCNIP3
OMIM604662   
MedgenKCNIP3
NextProtQ9Y2W7 [Medical]
GENETestsKCNIP3
Disease Genetic AssociationKCNIP3
Huge Navigator KCNIP3 [HugePedia]  KCNIP3 [HugeCancerGEM]
snp3D : Map Gene to Disease30818
DGIdb (Drug Gene Interaction db)KCNIP3
General knowledge
Homologs : HomoloGeneKCNIP3
Homology/Alignments : Family Browser (UCSC)KCNIP3
Phylogenetic Trees/Animal Genes : TreeFamKCNIP3
Chemical/Protein Interactions : CTD30818
Chemical/Pharm GKB GenePA26934
Clinical trialKCNIP3
Cancer Resource (Charite)ENSG00000115041
Other databases
Probes
Litterature
PubMed57 Pubmed reference(s) in Entrez
CoreMineKCNIP3
GoPubMedKCNIP3
iHOPKCNIP3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Dec 20 22:15:19 CET 2014

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