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KCNIP3 Gene

protein-coding   GIFtS: 60
GCID: GC02P095963

Kv Channel Interacting Protein 3, Calsenilin

(Previous names: calsenilin, presenilin-binding protein, EF hand transcription...)
(Previous symbol: CSEN)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Kv Channel Interacting Protein 3, Calsenilin1 2     A-Type Potassium Channel Modulatory Protein 32 3
CSEN1 2 3 5     DRE-Antagonist Modulator2 3
DREAM2 3 5     calsenilin2
KCHIP32 3 5     Potassium Channel Interacting Protein 32
Calsenilin, Presenilin-Binding Protein, EF Hand Transcription Factor1 2     KChIP33
Kv Channel-Interacting Protein 32 3     

External Ids:    HGNC: 155231   Entrez Gene: 308182   Ensembl: ENSG000001150417   OMIM: 6046625   UniProtKB: Q9Y2W73   

Export aliases for KCNIP3 gene to outside databases

Previous GC identifers: GC02P095326 GC02P089991


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for KCNIP3 Gene:
This gene encodes a member of the family of voltage-gated potassium (Kv) channel-interacting proteins, which
belong to the recoverin branch of the EF-hand superfamily. Members of this family are small calcium binding
proteins containing EF-hand-like domains. They are integral subunit components of native Kv4 channel complexes
that may regulate A-type currents, and hence neuronal excitability, in response to changes in intracellular
calcium. The encoded protein also functions as a calcium-regulated transcriptional repressor, and interacts with
presenilins. Alternatively spliced transcript variants encoding different isoforms have been described. (provided
by RefSeq, Jul 2008)

GeneCards Summary for KCNIP3 Gene:
KCNIP3 (Kv channel interacting protein 3, calsenilin) is a protein-coding gene. GO annotations related to this gene include protein C-terminus binding and calcium ion binding. An important paralog of this gene is HPCA.

UniProtKB/Swiss-Prot: CSEN_HUMAN, Q9Y2W7
Function: Calcium-dependent transcriptional repressor that binds to the DRE element of genes including PDYN and
FOS. Affinity for DNA is reduced upon binding to calcium and enhanced by binding to magnesium. Seems to be
involved in nociception (By similarity)
Function: Regulatory subunit of Kv4/D (Shal)-type voltage-gated rapidly inactivating A-type potassium channels.
Probably modulates channels density, inactivation kinetics and rate of recovery from inactivation in a
calcium-dependent and isoform-specific manner. In vitro, modulates KCND2/Kv4.2 and KCND3/Kv4.3 currents. Involved
in KCND2 and probably KCND3 trafficking to the cell surface
Function: May play a role in the regulation of PSEN2 proteolytic processing and apoptosis. Together with PSEN2
involved in modulation of beta-amyloid formation

summary for KCNIP3 Gene:
Voltage-gated potassium channels (KV) belong to the 6-TM family of potassium channel that also comprises the
Ca2+-activated Slo (actually 7-TM) and the Ca2+-activated SK subfamilies. The pore-forming alpha-subunits
contain a single pore-forming region and combine to form tetramers. Heteromeric channels can be formed
within subfamilies e.g. KV1.1 with KV1.2 and KCNQ2 with KCNQ3.

Gene Wiki entry for KCNIP3 (Calsenilin) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NC_018913.2  NT_005403.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the KCNIP3 gene promoter:
         E2F-4   E2F-3a   E2F-5   CUTL1   E2F-2   E47   E2F   E2F-1   Hand1   LyF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): KCNIP3 promoter sequence
   Search Chromatin IP Primers for KCNIP3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KCNIP3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q21.1   Ensembl cytogenetic band:  2q11.1   HGNC cytogenetic band: 2q21.1

KCNIP3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KCNIP3 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P095963:  view genomic region     (about GC identifiers)

Start:
95,963,052 bp from pter      End:
96,051,825 bp from pter
Size:
88,774 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: CSEN_HUMAN, Q9Y2W7 (See protein sequence)
Recommended Name: Calsenilin  
Size: 256 amino acids; 29231 Da
Subunit: Binds to DNA as a homomultimer. Dimerization is induced by binding to calcium. Component of
heteromultimeric potassium channels. Interacts with KCND2 and KCND3 (By similarity). Interacts with the
C-terminus of PSEN1 and PSEN2 and with PSEN2 CTF subunit. Associates with KCN1
1 PDB 3D structure from and Proteopedia for KCNIP3:
2E6W (3D)    
Secondary accessions: H7BY46 Q3YAC3 Q3YAC4 Q53TJ5 Q96T40 Q9UJ84 Q9UJ85
Alternative splicing: 3 isoforms:  Q9Y2W7-1   Q9Y2W7-2   Q9Y2W7-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for KCNIP3: NX_Q9Y2W7

Explore proteomics data for KCNIP3 at MOPED

Post-translational modifications: 

  • Palmitoylated. Palmitoylation enhances association with the plasma membrane (By similarity)1
  • Proteolytically cleaved by caspase-31
  • Phosphorylation at Ser-63 inhibits cleavage by CASP31
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See KCNIP3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001030086.1  NP_038462.1  

    ENSEMBL proteins: 
     ENSP00000295225   ENSP00000417499   ENSP00000354261  

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    antibodies-online peptides for KCNIP3

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    EFHAND: EF-hand domain containing

    4 InterPro protein domains:
     IPR001125 Recoverin_like
     IPR011992 EF-hand-dom_pair
     IPR002048 EF_hand_dom
     IPR018247 EF_Hand_1_Ca_BS

    Graphical View of Domain Structure for InterPro Entry Q9Y2W7

    ProtoNet protein and cluster: Q9Y2W7

    1 Blocks protein domain: IPB001125 Recoverin family signature

    UniProtKB/Swiss-Prot: CSEN_HUMAN, Q9Y2W7
    Similarity: Belongs to the recoverin family
    Similarity: Contains 4 EF-hand domains


    Find genes that share domains with KCNIP3           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CSEN_HUMAN, Q9Y2W7
    Function: Calcium-dependent transcriptional repressor that binds to the DRE element of genes including PDYN and
    FOS. Affinity for DNA is reduced upon binding to calcium and enhanced by binding to magnesium. Seems to be
    involved in nociception (By similarity)
    Function: Regulatory subunit of Kv4/D (Shal)-type voltage-gated rapidly inactivating A-type potassium channels.
    Probably modulates channels density, inactivation kinetics and rate of recovery from inactivation in a
    calcium-dependent and isoform-specific manner. In vitro, modulates KCND2/Kv4.2 and KCND3/Kv4.3 currents. Involved
    in KCND2 and probably KCND3 trafficking to the cell surface
    Function: May play a role in the regulation of PSEN2 proteolytic processing and apoptosis. Together with PSEN2
    involved in modulation of beta-amyloid formation

         Gene Ontology (GO): Selected molecular function terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding TAS10078534
    GO:0003714transcription corepressor activity TAS10078534
    GO:0005244voltage-gated ion channel activity IEA--
    GO:0005267potassium channel activity IEA--
    GO:0005509calcium ion binding IEA--
         
    Find genes that share ontologies with KCNIP3           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for KCNIP3:
     Decreased TP53 protein express  Decreased influenza A/WSN/33 r  Decreased p24 protein expressi 

         4 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Kcnip3):
     behavior/neurological  cellular  integument  nervous system 

    Find genes that share phenotypes with KCNIP3           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for KCNIP3: Kcnip3tm1Pngr Kcnip3tm1Lex

       genOway: Develop your customized and physiologically relevant rodent model for KCNIP3

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    hsa-miR-3194-5p hsa-miR-146a hsa-miR-218 hsa-miR-10b* hsa-miR-4326 hsa-miR-2113 hsa-miR-1237 hsa-miR-139-3p
    SwitchGear 3'UTR luciferase reporter plasmidKCNIP3 3' UTR sequence
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CSEN_HUMAN, Q9Y2W7: Cytoplasm. Cell membrane; Lipid-anchor (By similarity). Endoplasmic reticulum. Golgi
    apparatus. Nucleus. Note=Also membrane-bound, associated with the plasma membrane (By similarity). In the
    presence of PSEN2 associated with the endoplasmic reticulum and Golgi. The sumoylated form is present only in the
    nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    golgi apparatus5
    nucleus5
    plasma membrane5
    cytosol3

    Gene Ontology (GO): Selected cellular component terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005578proteinaceous extracellular matrix ----
    GO:0005634nucleus IEA--
    GO:0005783endoplasmic reticulum IEA--
    GO:0005794Golgi apparatus IEA--
    GO:0005829cytosol IEA--

    Find genes that share ontologies with KCNIP3           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for KCNIP3 About    
    See pathways by source

    SuperPathContained pathways About
    1TSH signaling pathway
    TSH signaling pathway
    2IL-3 Signaling Pathway
    IL-3 Signaling Pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for KCNIP3
        DREAM Repression and Dynorphin Expression

    1 GeneGo (Thomson Reuters) Pathway for KCNIP3
        Transcription CREB pathway

    2 BioSystems Pathways for KCNIP3
        IL-3 Signaling Pathway
    TSH signaling pathway



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KCNIP3
    Interactions:

        GeneGlobe Interaction Network for KCNIP3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    Selected Interacting proteins for KCNIP3 (Q9Y2W72, 3 ENSP000002952254) via UniProtKB, MINT, STRING, and/or I2D (see all 18)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CD177Q8N6Q32, 3, ENSP000003887944MINT-68147 I2D: score=5 STRING: ENSP00000388794
    CREMQ030603, ENSP000002653724I2D: score=2 STRING: ENSP00000265372
    PSEN1P497683, ENSP000003263664I2D: score=2 STRING: ENSP00000326366
    CASP3P425743, ENSP000003110324I2D: score=1 STRING: ENSP00000311032
    CRKP461083, ENSP000003005744I2D: score=1 STRING: ENSP00000300574
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0006351transcription, DNA-templated IEA--
    GO:0006357regulation of transcription from RNA polymerase II promoter TAS10078534
    GO:0006886intracellular protein transport IEA--
    GO:0006915apoptotic process IEA--

    Find genes that share ontologies with KCNIP3           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for KCNIP3 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    ICA 110381KV7.2/7.3 activator; displays anticonvulsant properties[325457-99-6]
    XE 991 dihydrochloride Potent, selective KV7 (KCNQ) channel blocker; blocks M-current [122955-42-4]
    JNJ 303Potent and selective IKs blocker[878489-28-2]
    E-4031 dihydrochlorideKV11.1 (hERG) channel blocker; inhibits rapid delayed rectifier K+ current (IKr)[113559-13-0]
    ShK-Dap22Extremely potent and selective KV1.3 blocker; suppresses T cell activation in vitro[220384-25-8]

    3 HMDB Compounds for KCNIP3    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    MagnesiumMagnesium (see all 2)7439-95-4--
    PotassiumK+ (see all 16)7440-09-7--

    6 Novoseek inferred chemical compound relationships for KCNIP3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    potassium 48.4 6 17102134 (2), 12667101 (1), 15763173 (1), 17962406 (1) (see all 5)
    calcium 45.4 41 10900016 (4), 15086516 (4), 17962406 (2), 18393943 (2) (see all 14)
    aspartate 23 1 18795890 (1)
    threonine 14.1 1 12837631 (1)
    oligonucleotide 6.09 1 12409095 (1)
    serine 0 1 12837631 (1)



    Find genes that share compounds with KCNIP3           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for KCNIP3 gene (2 alternative transcripts): 
    NM_001034914.1  NM_013434.4  

    Unigene Cluster for KCNIP3:

    Kv channel interacting protein 3, calsenilin
    Hs.437376  [show with all ESTs]
    Unigene Representative Sequence: AB209076
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000295225(uc002sup.3 uc002suq.3) ENST00000486055 ENST00000475491(uc002suo.1)
    ENST00000461336 ENST00000377181 ENST00000468529 ENST00000360990
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    Additional mRNA sequence: 

    AB209076.1 AF120102.1 AF199599.1 AF367022.1 AK025847.1 AK026052.1 AK095539.1 AK315437.1 
    BC012850.1 BC019877.2 BT020075.1 DQ148485.1 DQ148486.1 

    9 DOTS entries:

    DT.445196  DT.434125  DT.97820366  DT.120985719  DT.120985703  DT.120985702  DT.75101966  DT.97836794 
    DT.86840430 

    Selected AceView cDNA sequences (see all 101):

    BX279924 BE222787 AW450942 AI699155 AA349364 AI365501 AA349363 AL540923 
    BU689479 AK025847 AF199599 AL039635 AW298517 T87627 NM_013434 AK026052 
    BF374876 AK095539 BC012850 AA861334 AF120102 AI935039 BG819239 AL118854 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    KCNIP3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    KCNIP3 Expression
    About this image


    KCNIP3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 12) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Adult Oligodendrocyte Precursor Cells Lateral Ventricle
             Cerebral Cortex
     
     Bone (Muscoskeletal System)    fully expand to see all 3 entries
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
     
     Cartilage (Muscoskeletal System)    fully expand to see all 2 entries
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
     
     Neural Crest (Gastrulation Derivatives)
             PureStem MEL2, NCr-fac Progenitor
     
     Eye (Sensory Organs)
             Type4 Off Cone Bipolar Cells Inner Nuclear Layer
    KCNIP3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KCNIP3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.437376

    UniProtKB/Swiss-Prot: CSEN_HUMAN, Q9Y2W7
    Tissue specificity: Highly expressed in brain. Widely expressed at lower levels. Expression levels are elevated in
    brain cortex regions affected by Alzheimer disease

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for KCNIP3 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kcnip31 , 5 Kv channel interacting protein 3, calsenilin1, 5 87.63(n)1
    91.8(a)1
      2 (62.02 cM)5
    564611  NM_019789.31  NP_062763.21 
     1274564985 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004940971 calsenilin-like 76.88(n)
    85.08(a)
      100494097  XM_004912596.1  XP_004912653.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc733062 hypothetical protein MGC73306 83.25(n)   393755  BC059629.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG58906
    CG426836
    --
    45(a)
    16(a)
    many ↔ many
    many ↔ many
    3R(21692822-21695514)
    X(11113464-11187732)
    worm
    (Caenorhabditis elegans)
    Secernentea ncs-76
    ncs-46
    Protein NCS-4, isoform a
    35(a)
    30(a)
    many ↔ many
    many ↔ many
    X(17617827-17619458) WBGene00015867
    X(10177237-10180659) WBGene00008998
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes FRQ16
    N-myristoylated calcium-binding protein that may h...
    42(a)
    1 → many
    IV(1222759-1223331) YDR373W


    ENSEMBL Gene Tree for KCNIP3 (if available)
    TreeFam Gene Tree for KCNIP3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KCNIP3 gene
    HPCA2  KCNIP42  KCNIP12  GUCA1A2  RCVRN2  HPCAL12  GUCA1B2  NCALD2  
    KCNIP22  HPCAL42  NCS12  GUCA1C2  VSNL12  
    15 SIMAP similar genes for KCNIP3 using alignment to 1 protein entry:     CSEN_HUMAN:
    KCNIP1    KCNIP4    KCNIP2    HPCA    NCALD    DKFZp781K1922
    HPCAL1    HPCAL4    NCS1    VSNL1    RCVRN    GUCA1A
    GUCA1B    GUCA1C    PPP3R1

    Find genes that share paralogs with KCNIP3           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for KCNIP3 (see all 1409)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0354634
    A breast cancer sample4--see VAR_0354632 A S mis40--------
    VAR_0354644
    A breast cancer sample4--see VAR_0354642 D Y mis40--------
    rs1463908041,2
    --90037830(+) ATCTTC/GTTCAG 1 -- us2k10--------
    rs124719741,2
    C,F,H--90037835(+) GTTCAG/CCACTT 1 -- us2k11Minor allele frequency- C:0.50NA 4
    rs560259931,2
    C,F--95961204(+) TGCTCA/GATGCG 1 -- us2k12Minor allele frequency- G:0.10WA 120
    rs1437951711,2
    --95961416(+) CAAAAA/GTTAGC 1 -- us2k10--------
    rs37555261,2
    C,F--95961417(-) GGCTAA/CTTTTT 1 -- us2k18Minor allele frequency- C:0.27NA WA CSA EA 367
    rs1926430291,2
    --95961423(+) TAGCCA/GTGCAT 1 -- us2k10--------
    rs30761041,2
    C--95961567(+) aaaaa-/AAGCAGA 1 -- us2k11Minor allele frequency- AA:0.00NA 2
    rs1468797241,2
    C--95961754(+) GAAGTC/TGCACA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for KCNIP3 (95963052 - 96051825 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for KCNIP3:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2720398CNV Deletion23290073
    nsv528011CNV Loss19592680
    nsv829579CNV Gain20364138
    nsv829578CNV Gain20364138
    dgv1228e1CNV Complex17122850

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604662    OMIM disorders: --


    Find genes that share disorders with KCNIP3           About GenesLikeMe

    1 Novoseek inferred disease relationship for KCNIP3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alzheimers disease 29.9 13 15770150 (6), 11072133 (2), 14720210 (2)

    Genetic Association Database (GAD): KCNIP3
    Human Genome Epidemiology (HuGE) Navigator: KCNIP3 (2 documents)

    Export disorders for KCNIP3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for KCNIP3 gene, integrated from 10 sources (see all 79):
    (articles sorted by number of sources associating them with KCNIP3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. DREAM is a Ca2+-regulated transcriptional repressor. (PubMed id 10078534)1, 2, 3 Carrion A.M.... Naranjo J.R. (Nature 1999)
    2. Calsenilin: a calcium-binding protein that interacts with the presenilins and regulates the levels of a presenilin fragment. (PubMed id 9771752)1, 2, 3 Buxbaum J.D.... Wasco W. (Nat. Med. 1998)
    3. Calsenilin is a substrate for caspase-3 that preferentially interacts with the familial Alzheimer's disease-associated C-terminal fragment of presenilin 2. (PubMed id 11278424)1, 2, 9 Choi E.K.... Wasco W. (J. Biol. Chem. 2001)
    4. Phosphorylation of calsenilin at Ser63 regulates its cleavage by caspase-3. (PubMed id 12837631)1, 2, 9 Choi E.K.... Wasco W. (Mol. Cell. Neurosci. 2003)
    5. Induction of pro-apoptotic calsenilin/DREAM/KChIP3 in Alzheimer's disease and cultured neurons after amyloid-beta exposure. (PubMed id 14720210)1, 2, 9 Jo D.G....Jung Y.K. (J. Neurochem. 2004)
    6. Genomic structure, expression pattern, and chromosomal localization of the human calsenilin gene: no association between an exonic polymorphism and Alzheimer's disease. (PubMed id 11072133)1, 4, 9 Buxbaum J.D....Blacker D. (Neurosci. Lett. 2000)
    7. Solution structure and calcium-binding properties of EF-hands 3 and 4 of calsenilin. (PubMed id 17962406)1, 2, 9 Yu L.... Olejniczak E.T. (Protein Sci. 2007)
    8. Structure, alternative splicing, and expression of the human and mouse KCNIP gene family. (PubMed id 16112838)1, 2, 9 Pruunsild P. and Timmusk T. (Genomics 2005)
    9. Sumoylation regulates nuclear localization of repressor DREAM. (PubMed id 21070824)1, 2 Palczewska M.... Naranjo J.R. (Biochim. Biophys. Acta 2011)
    10. The variant rs1867277 in FOXE1 gene confers thyroid cancer susceptibility through the recruitment of USF1/USF2 transcription factors. (PubMed id 19730683)1, 4 Landa I....Robledo M. (PLoS Genet. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 30818 HGNC: 15523 AceView: CSEN Ensembl:ENSG00000115041 euGenes: HUgn30818
    ECgene: KCNIP3 H-InvDB: KCNIP3

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for KCNIP3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for KCNIP3 gene:
    Search GeneIP for patents involving KCNIP3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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