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KCNC2 Gene

protein-coding   GIFtS: 56
GCID: GC12M075433

Potassium Voltage-Gated Channel, Shaw-Related Subfamily,...

  See related diseases
at  

(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
Potassium Voltage-Gated Channel, Shaw-Related Subfamily, Member 21 2
Voltage-Gated Potassium Channel Kv3.22 3
KV3.22
Potassium Voltage-Gated Channel Subfamily C Member 22

External Ids:    HGNC: 62341   Entrez Gene: 37472   Ensembl: ENSG000001660067   OMIM: 1762565   UniProtKB: Q96PR13   

Export aliases for KCNC2 gene to outside databases

Previous GC identifers: GC12P074022 GC12M075342 GC12M075150 GC12M073720 GC12M072483


(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 KCNC2 Gene:
The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of
four subfamilies. Based on sequence similarity, this gene is similar to one of these subfamilies, namely the Shaw
subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an
integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes.
Several transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, May
2012)

GeneCards Summary for KCNC2 Gene:
KCNC2 (potassium voltage-gated channel, Shaw-related subfamily, member 2) is a protein-coding gene. Diseases associated with KCNC2 include alzheimer's disease, and neuronitis. GO annotations related to this gene include delayed rectifier potassium channel activity. An important paralog of this gene is KCNA6.

UniProtKB/Swiss-Prot: KCNC2_HUMAN, Q96PR1
Function: Mediates the voltage-dependent potassium ion permeability of excitable membranes. Assuming opened or
closed conformations in response to the voltage difference across the membrane, the protein forms a
potassium-selective channel through which potassium ions may pass in accordance with their electrochemical
gradient. Channel properties are modulated by subunit assembly (By similarity)

summary for KCNC2 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 KCNC2 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:
NC_000012.12  NT_029419.13  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the KCNC2 gene promoter:
         COUP-TF1   Spz1   FOXD1   COUP   HNF-4alpha2   CUTL1   HNF-4alpha1   AREB6   COUP-TF   FOXO4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKCNC2 promoter sequence
   Search Chromatin IP Primers for KCNC2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KCNC2


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

Entrez Gene cytogenetic band: 12q14.1   Ensembl cytogenetic band:  12q21.1   HGNC cytogenetic band: 12q14.1

KCNC2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KCNC2 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M075433:  view genomic region     (about GC identifiers)

Start:
75,433,857 bp from pter      End:
75,603,648 bp from pter
Size:
169,792 bases      Orientation:
minus 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: KCNC2_HUMAN, Q96PR1 (See protein sequence)
Recommended Name: Potassium voltage-gated channel subfamily C member 2  
Size: 638 amino acids; 70226 Da
Subunit: The potassium channel is probably composed of a homo- or heterotetrameric complex of pore-forming
subunits that can associate with modulating accessory subunits. Interacts with KCNC1, KCNE1, KCNE2 and KCNE3 (By
similarity)
Sequence caution: Sequence=BAE06076.1; Type=Erroneous initiation;
Secondary accessions: B7Z231 F5H030 J3KPP5 Q4LE77 Q86W09 Q8N1V9 Q96PR0
Alternative splicing: 6 isoforms:  Q96PR1-1   Q96PR1-2   Q96PR1-3   Q96PR1-4   Q96PR1-5   Q96PR1-6   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for KCNC2: NX_Q96PR1

Explore proteomics data for KCNC2 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn259, Asn266
  • Modification sites at PhosphoSitePlus

  • See KCNC2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (6 alternative transcripts): 
    NP_001247426.1  NP_001247427.1  NP_001247428.1  NP_631874.1  NP_631875.1  NP_715624.1  

    ENSEMBL proteins: 
     ENSP00000448301   ENSP00000449941   ENSP00000449253   ENSP00000319877   ENSP00000438423  
     ENSP00000376966   ENSP00000340121   ENSP00000298972  
    Reactome Protein details: Q96PR1

    KCNC2 Human Recombinant Protein Products:

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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:
    KCN: Potassium channels
    Kv: Voltage-gated ion channels / Potassium channels

    IUPHAR Guide to PHARMACOLOGY protein family classification: Kv3.2
    Voltage-gated potassium channels

    Selected InterPro protein domains (see all 9):
     IPR005821 Ion_trans_dom
     IPR000210 BTB/POZ-like
     IPR011333 BTB/POZ_fold
     IPR027359 Channel_four-helix_dom
     IPR028325 VG_K_chnl

    Graphical View of Domain Structure for InterPro Entry Q96PR1

    ProtoNet protein and cluster: Q96PR1

    3 Blocks protein domains:
    IPB000210 BTB/POZ domain
    IPB003091 Potassium channel signature
    IPB003974 Shaw voltage-gated K+ channel family signature


    UniProtKB/Swiss-Prot: KCNC2_HUMAN, Q96PR1
    Domain: The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino
    acids at every third position
    Domain: The tail may be important in modulation of channel activity and/or targeting of the channel to specific
    subcellular compartments
    Similarity: Belongs to the potassium channel family. C (Shaw) (TC 1.A.1.2) subfamily. Kv3.2/KCNC2 sub-subfamily


    KCNC2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KCNC2_HUMAN, Q96PR1
    Function: Mediates the voltage-dependent potassium ion permeability of excitable membranes. Assuming opened or
    closed conformations in response to the voltage difference across the membrane, the protein forms a
    potassium-selective channel through which potassium ions may pass in accordance with their electrochemical
    gradient. Channel properties are modulated by subunit assembly (By similarity)

         Genatlas biochemistry entry for KCNC2:
    potassium voltage-gated channel,Drosophila Shaw-related subfamily,member 2 (mouse Kv3.2 homolog)

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005216ion channel activity ----
    GO:0005251delayed rectifier potassium channel activity IBA--
    GO:0005515protein binding ----
         
    KCNC2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for KCNC2:
     Increased cell death HMECs cel 

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Kcnc2):
     behavior/neurological  muscle  nervous system 

    KCNC2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Kcnc2tm1Rudy for KCNC2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KCNC2
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for KCNC2

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate KCNC2 (see all 10):
    hsa-miR-4291 hsa-miR-4307 hsa-miR-550a hsa-miR-922 hsa-miR-4297 hsa-miR-214 hsa-miR-4274 hsa-miR-651
    SwitchGear 3'UTR luciferase reporter plasmidKCNC2 3' UTR sequence
    Inhib. RNA
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    Browse Sino Biological Human cDNA Clones
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNC2


    (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
    KCNC2_HUMAN, Q96PR1: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    cytosol3
    nucleus3

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0008076voltage-gated potassium channel complex IEA--
    GO:0016020membrane ----

    KCNC2 for ontologies           About GeneDecksing


    (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 KCNC2 About    
    See pathways by source

    SuperPathContained pathways About
    1Potassium Channels
    Potassium Channels0.43
    Potassium transporters outward current0.41
    Voltage gated Potassium channels0.43
    2Integration of energy metabolism
    Integration of energy metabolism0.75
    Regulation of Insulin Secretion by Glucagon-like Peptide-10.56
    Regulation of Insulin Secretion0.75
    3Transmission across Chemical Synapses
    Neuronal System0.68
    4Metabolism
    Metabolism0.38
    5Dopamine-DARPP32 Feedback onto cAMP Pathway
    Dopamine-DARPP32 Feedback onto cAMP Pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for KCNC2
        Dopamine-DARPP32 Feedback onto cAMP Pathway

    2 Reactome Pathways for KCNC2
        Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
    Voltage gated Potassium channels



    KCNC2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including KCNC2: 
              Neuronal Ion Channels in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for KCNC2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for KCNC2 (Q96PR13 ENSP000003769664) via UniProtKB, MINT, STRING, and/or I2D (see all 42)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KCNC1P485473, ENSP000002659694I2D: score=1 STRING: ENSP00000265969
    KCNA10ENSP000003587864STRING: ENSP00000358786
    KCNA2ENSP000003145204STRING: ENSP00000314520
    KCNA3ENSP000003587844STRING: ENSP00000358784
    KCNA4ENSP000003285114STRING: ENSP00000328511
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001508action potential IEA--
    GO:0006112energy reserve metabolic process TAS--
    GO:0006811ion transport ----
    GO:0007268synaptic transmission TAS--
    GO:0044281small molecule metabolic process TAS--

    KCNC2 for ontologies           About GeneDecksing



    (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 KCNC2 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 IUPHAR Ligands for KCNC2 (Kv3.2)    About this table
    LigandTypeActionAffinityPubmed IDs
    ShK Toxin
    Pore BlockerNone9.515709110
    4-aminopyridine
    InhibitorNone9.5--
    tetraethylammonium
    InhibitorNone9.5--



    (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,
    Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for KCNC2 gene (6 alternative transcripts): 
    NM_001260497.1  NM_001260498.1  NM_001260499.1  NM_139136.3  NM_139137.3  NM_153748.2  

    Unigene Cluster for KCNC2:

    Potassium voltage-gated channel, Shaw-related subfamily, member 2
    Hs.27214  [show with all ESTs]
    Unigene Representative Sequence: NM_001260497
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000550433(uc009zry.3) ENST00000548513 ENST00000549446(uc001sxg.1 uc010stw.1)
    ENST00000350228 ENST00000540018 ENST00000393288 ENST00000548243 ENST00000546456
    ENST00000341669 ENST00000298972(uc001sxe.3 uc001sxf.3)
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    hsa-miR-4291 hsa-miR-4307 hsa-miR-550a hsa-miR-922 hsa-miR-4297 hsa-miR-214 hsa-miR-4274 hsa-miR-651
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    Additional mRNA sequence: 

    AB209994.1 AF268896.1 AF268897.2 AK094720.1 AK126235.1 AK294269.1 AK309245.1 AY118169.1 
    AY243473.1 BC093635.1 BC111991.1 

    6 DOTS entries:

    DT.446028  DT.100017577  DT.91748018  DT.97785276  DT.92418515  DT.121110168 

    Selected AceView cDNA sequences (see all 55):

    NM_153748 NM_139136 BE550188 AK126235 AW054849 AY118169 BM709602 AW205270 
    BE549574 BX952991 CD636720 CD636734 AK094720 F04114 AI868421 AI363404 
    F07855 F05540 F01811 NM_139137 BX493507 AW165975 AW131827 AI885150 

    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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    KCNC2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CACAACCTTG
    KCNC2 Expression
    About this image

    KCNC2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KCNC2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.27214
        Pathway & Disease-focused RT2 Profiler PCR Array including KCNC2: 
              Neuronal Ion Channels in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNC2

    (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.

    Orthologs for KCNC2 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kcnc21 , 5 potassium voltage gated channel, Shaw-related subfamily, more1, 5 89.51(n)1
    97.47(a)1
      10 (60.30 cM)5
    2683451  NM_001025581.11  NP_001020752.11 
     1122711235 
    chicken
    (Gallus gallus)
    Aves KCNC21 potassium voltage-gated channel, Shaw-related subfamily, more 85.49(n)
    91.96(a)
      772061  XM_001235254.3  XP_001235255.3 
    lizard
    (Anolis carolinensis)
    Reptilia KCNC26
    potassium voltage-gated channel, Shaw-related subf...
    83(a)
    1 ↔ 1
    5(40072330-40149287)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia kcnc21 potassium voltage-gated channel, Shaw-related subfamily, more 78.27(n)
    87.67(a)
      100489216  XM_002939945.2  XP_002939991.2 
    zebrafish
    (Danio rerio)
    Actinopterygii kcnc21 potassium voltage-gated channel, Shaw-related subfamily, more 70.09(n)
    77.78(a)
      100037377  NM_001089529.2  NP_001082998.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG44503
    Shaw1
    voltage-gated potassium channel3
    Shaker cognate w1
    48(a)
    (best of 2)3
    60.12(n)1
    55.14(a)1
      335991  NM_057373.31  NP_476721.11 
    worm
    (Caenorhabditis elegans)
    Secernentea shw-33
    shw-11
    potassium channel protein3
    shw-11
    42(a)3
    54.36(n)1
    51.17(a)1
      V(12975999-12978929)3
    1743311  NM_001026918.41  NP_001022089.11 


    ENSEMBL Gene Tree for KCNC2 (if available)
    TreeFam Gene Tree for KCNC2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KCNC2 gene
    KCNA62  KCNA22  KCNC42  KCND22  KCND12  KCNA72  KCNA52  KCNA12  
    KCNC12  KCNA42  KCNC32  KCNA32  KCND32  KCNA102  
    15 SIMAP similar genes for KCNC2 using alignment to 1 protein entry:     KCNC2_HUMAN:
    KCNC4    KCNC1    KCNC3    KCNA1    KCNB1    KCNS3
    KCNA10    KCNA2    KCNB2    KCNA7    KCNF1    KCNG1
    KCNS1    KCNG4    KCNV1

    KCNC2 for paralogs           About GeneDecksing



    (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 KCNC2 (see all 3610)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs671919261,2
    C--72530058(+) ATATA-/TA/TATAT
    ATATATATATA
    CACAC
    6 -- int11NA 2
    rs30735441,2
    C--75325048(-) atcta-/A/TC  
      T
    /TCTA
    atcta
    12 -- int1 cds10--------
    rs714388841,2
    C--75327440(+) TTGGC-/AAAAAA/
    AAAAAAAAA
    AAAAA
    12 -- int1 cds11NA 2
    rs800294161,2
    C,F--75433470(+) TAAATA/TTAAAT 6 -- ds50011Minor allele frequency- T:0.02WA 118
    rs1386793051,2
    --75433501(+) GGCAGA/GAGAAT 6 -- ds50010--------
    rs108798741,2
    C,F,A,H--75433529(+) TCGAGA/GACAGC 6 -- ds500110Minor allele frequency- G:0.37NS EA NA 664
    rs1830310221,2
    --75433538(+) GCCTAC/GGTAAC 6 -- ds50010--------
    rs1874193731,2
    --75433622(+) TACCAC/TAATAC 6 -- ds50010--------
    rs1393046821,2
    C--75433745(+) TTTTT-/AAATCC 6 -- ds50010--------
    rs744022731,2
    F--75433794(+) GTGATA/CCCATA 6 -- ds50011Minor allele frequency- C:0.33NA 6

    HapMap Linkage Disequilibrium report for KCNC2 (75433857 - 75603648 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for KCNC2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv899308CNV Loss21882294
    nsv899307CNV Loss21882294
    nsv519821CNV Loss19592680
    nsv832462CNV Gain17160897
    nsv522290CNV Gain19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KCNC2
    DNA2.0 Custom Variant and Variant Library Synthesis for KCNC2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 176256    OMIM disorders: --

    3 diseases for KCNC2:    
    About MalaCards
    alzheimer's disease    neuronitis    malaria


    KCNC2 for disorders           About GeneDecksing


    Export disorders for KCNC2 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 KCNC2 gene, integrated from 10 sources (see all 12):
    (articles sorted by number of sources associating them with KCNC2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Localization of Shaw-related K+ channel genes on mouse and human chromosomes. (PubMed id 8111118)1, 2, 3, 9 Haas M.... Rudy B. (Mamm. Genome 1993)
    2. International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels. (PubMed id 16382104)1, 3 Gutman G.A....Wang X. (Pharmacol. Rev. 2005)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. Deletion of chromosome 12q21 affecting KCNC2 and ATXN7L3B in a family with neurodevelopmental delay and ataxia. (PubMed id 23475819)1 Rajakulendran S....Stewart H. (J. Neurol. Neurosurg. Psychiatr. 2013)
    5. Brain expression of Kv3 subunits during development, adulthood and aging and in a murine model of Alzheimer's disease. (PubMed id 21912965)1 Boda E....Tempia F. (J. Mol. Neurosci. 2012)
    6. Control of voltage-gated K+ channel permeability to NMDG+ by a residue at the outer pore. (PubMed id 19332619)1 Wang Z....Fedida D. (J. Gen. Physiol. 2009)
    7. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    8. The finished DNA sequence of human chromosome 12. (PubMed id 16541075)2 Scherer S.E.... Gibbs R.A. (Nature 2006)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. Kv3.1b is a novel component of CNS nodes. (PubMed id 12805291)1 Devaux J....Scherer S.S. (J. Neurosci. 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 3747 HGNC: 6234 AceView: KCNC2 Ensembl:ENSG00000166006 euGenes: HUgn3747
    ECgene: KCNC2 H-InvDB: KCNC2

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for KCNC2 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 KCNC2 gene:
    Search GeneIP for patents involving KCNC2

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



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