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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

KCNC4 Gene

protein-coding   GIFtS: 63
GCID: GC01P110753

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

(Previous name: chromosome 1 open reading frame 30)
(Previous symbol: C1orf30)
Alzheimer's & Parkinson's Diseases Congress
  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)
About This Section

Aliases
Potassium Voltage-Gated Channel, Shaw-Related Subfamily, Member 41 2     HKSHIIIC2
C1orf301 2     KV3.42
Voltage-Gated Potassium Channel Subunit Kv3.42 3     K+ Channel Subunit2
KSHIIIC2 3     Potassium Voltage-Gated Channel Subfamily C Member 42
Chromosome 1 Open Reading Frame 301     

External Ids:    HGNC: 62361   Entrez Gene: 37492   Ensembl: ENSG000001163967   OMIM: 1762655   UniProtKB: Q037213   

Export aliases for KCNC4 gene to outside databases

Previous GC identifers: GC01P111170 GC01P109620 GC01P109856 GC01P110052 GC01P110466 GC01P110555 GC01P108626


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for KCNC4 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 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. It generates atypical
voltage-dependent transient current that may be important for neuronal excitability. Multiple transcript variants
have been found for this gene. (provided by RefSeq, Jul 2010)

GeneCards Summary for KCNC4 Gene: 
KCNC4 (potassium voltage-gated channel, Shaw-related subfamily, member 4) is a protein-coding gene. Diseases associated with KCNC4 include paralysis, and alzheimer's disease, and among its related super-pathways are Potassium Channels and Transmission across Chemical Synapses. GO annotations related to this gene include delayed rectifier potassium channel activity and potassium channel activity. An important paralog of this gene is KCNA6.

UniProtKB/Swiss-Prot: KCNC4_HUMAN, Q03721
Function: This protein 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

summary for KCNC4 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 KCNC4 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.2  NT_032977.9  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KCNC4 gene promoter:
         AP-1   NRSF form 1   c-Jun   NRSF form 2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): KCNC4 promoter sequence
   Search SABiosciences Chromatin IP Primers for KCNC4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KCNC4


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

Entrez Gene cytogenetic band: 1p21   Ensembl cytogenetic band:  1p13.3   HGNC cytogenetic band: 1p21

KCNC4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KCNC4 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P110753:  view genomic region     (about GC identifiers)

Start:
110,753,336 bp from pter      End:
110,825,722 bp from pter
Size:
72,387 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: KCNC4_HUMAN, Q03721 (See protein sequence)
Recommended Name: Potassium voltage-gated channel subfamily C member 4  
Size: 635 amino acids; 69767 Da
Subunit: Homotetramer (Probable). Heterotetramer of potassium channel proteins (By similarity)
Subcellular location: Membrane; Multi-pass membrane protein
3 PDB 3D structures from and Proteopedia for KCNC4:
1B4G (3D)        1B4I (3D)        1ZTN (3D)    
Secondary accessions: Q3MIM4 Q5TBI6
Alternative splicing: 3 isoforms:  Q03721-1   Q03721-2   Q03721-3   (Gene prediction based on EST data)

Explore the universe of human proteins at neXtProt for KCNC4: NX_Q03721

Explore proteomics data for KCNC4 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylation of serine residues in the inactivation gate inhibits rapid channel closure
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q03721

  • KCNC4 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KCNC4 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001034663.1  NP_004969.2  

    ENSEMBL proteins: 
     ENSP00000436656   ENSP00000358802   ENSP00000388029   ENSP00000393655  
    Reactome Protein details: Q03721
    Human Recombinant Protein Products for KCNC4: 
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    Cloud-Clone Corp. Proteins for KCNC4 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0008076voltage-gated potassium channel complex IEA--
    GO:0016020membrane ----
    GO:0031594neuromuscular junction IEA--
    GO:0043679axon terminus IEA--

    KCNC4 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    KCN: Potassium channels
    Kv: Voltage-gated ion channels / Potassium channels

    IUPHAR Guide to PHARMACOLOGY protein family classification: Kv3.4 
    Voltage-gated potassium channels

    5/10 InterPro protein domains (see all 10):
     IPR005405 K_chnl_volt-dep_Kv3.4
     IPR005821 Ion_trans_dom
     IPR000210 BTB/POZ-like
     IPR021105 K_chnl_volt-dep_Kv3_ID
     IPR011333 BTB/POZ_fold

    Graphical View of Domain Structure for InterPro Entry Q03721

    ProtoNet protein and cluster: Q03721

    4 Blocks protein domains:
    IPB000210 BTB/POZ domain
    IPB003091 Potassium channel signature
    IPB003974 Shaw voltage-gated K+ channel family signature
    IPB005405 Kv3.4 voltage-gated K+ channel signature


    UniProtKB/Swiss-Prot: KCNC4_HUMAN, Q03721
    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. Kv3.4/KCNC4 sub-subfamily


    KCNC4 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KCNC4_HUMAN, Q03721
    Function: This protein 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

         Genatlas biochemistry entry for KCNC4:
    potassium voltage-gated channel,Drosophila Shaw-related subfamily,member 4 (mouse Kv3.4 homolog)

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005216ion channel activity ----
    GO:0005249voltage-gated potassium channel activity TAS1920536
    GO:0005251delayed rectifier potassium channel activity IBA--
    GO:0005267potassium channel activity TAS1740329
    GO:0005515protein binding ----
         
    KCNC4 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for KCNC4:
     Increased cell death HMECs cel  Synthetic lethal with c-Myc af  Upregulation of Wnt/beta-caten 

         1 MGI phenotypic allele for Kcnc4 (no phenotypes)

    KCNC4 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Kcnc4tm1Lex for KCNC4

       inGenious Targeting Laboratory - Custom generated mouse model solutions for KCNC4 
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    SwitchGear 3'UTR luciferase reporter plasmidKCNC4 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for KCNC4 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Potassium Channels
    Potassium Channels0.43
    Potassium transporters: outward current0.42
    Voltage gated Potassium channels0.43
    2Transmission across Chemical Synapses
    Neuronal System0.67
    3Synaptic transmission: ion currents
    Synaptic transmission: ion currents
    4Dopamine-DARPP32 Feedback onto cAMP Pathway
    Dopamine-DARPP32 Feedback onto cAMP Pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for KCNC4
        Synaptic transmission- ion currents
    Potassium transporters- outward current

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for KCNC4
        Dopamine-DARPP32 Feedback onto cAMP Pathway

    3        Reactome Pathways for KCNC4
        Potassium Channels
    Neuronal System
    Voltage gated Potassium channels



    KCNC4 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for KCNC4

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

    5/41 Interacting proteins for KCNC4 (ENSP000003588024) via UniProtKB, MINT, STRING, and/or I2D (see all 41)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KCNA10ENSP000003587864STRING: ENSP00000358786
    KCNA2ENSP000003145204STRING: ENSP00000314520
    KCNA3ENSP000003587844STRING: ENSP00000358784
    KCNA4ENSP000003285114STRING: ENSP00000328511
    KCNA5ENSP000002523214STRING: ENSP00000252321
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006811ion transport ----
    GO:0006813potassium ion transport TAS1920536
    GO:0007268synaptic transmission TAS--
    GO:0046928regulation of neurotransmitter secretion IEA--
    GO:0051260protein homooligomerization IEA--

    KCNC4 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    KCNC4 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for KCNC4 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]

    1 HMDB Compound for KCNC4    About this table
    CompoundSynonyms CAS #PubMed Ids
    PotassiumK+ (see all 16)7440-09-7--

    1 DrugBank Compound for KCNC4    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Phosphonoserine-- --target----

    2 IUPHAR Ligands for KCNC4 (Kv3.4)    About this table 
    LigandTypeActionAffinityPubmed IDs
    tetraethylammonium
    InhibitorNone--
    sea anemone toxin BDS-I
    InhibitorNone--

    1 Novoseek inferred chemical compound relationship for KCNC4 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    potassium 29.4 2 1740329 (1), 16449802 (1)

    Search CenterWatch for drugs/clinical trials and news about KCNC4

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for KCNC4 gene (3 alternative transcripts): 
    NM_001039574.2  NM_004978.4  NM_153763.2  

    Unigene Cluster for KCNC4:

    Potassium voltage-gated channel, Shaw-related subfamily, member 4
    Hs.153521  [show with all ESTs]
    Unigene Representative Sequence: NM_004978
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000489935(uc001dzf.3) ENST00000469655(uc009wfr.3 uc001dzi.3 uc001dzg.3)
    ENST00000369787(uc001dzh.3) ENST00000413138 ENST00000438661 ENST00000412512
    ENST00000459877

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    Additional mRNA sequence: 

    AK125567.1 AK310193.1 BC025377.1 NR_036437.1 

    7 DOTS entries:

    DT.311563  DT.409905  DT.307427  DT.100641280  DT.99997196  DT.121387696  DT.40230555 

    24/96 AceView cDNA sequences (see all 96):

    AI860726 AK125567 BQ189347 Z38845 NM_004978 BM765446 BM966873 BX489205 
    BQ022636 BM966921 BM966756 AA298743 BX098184 NM_153763 BM966789 BC025377 
    CK823243 F03407 AW237067 AI868899 AA326357 BF969982 BI755315 BU188711 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for KCNC4    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b · 4c
    SP1:                          -     -     -                     
    SP2:                          -     -     -                     
    SP3:                                                            
    SP4:                                                            


    ECgene alternative splicing isoforms for KCNC4

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    KCNC4 expression in normal human tissues (normalized intensities)      KCNC4 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGTGCTCGA
    KCNC4 Expression
    About this image


    KCNC4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Brain (Nervous System)    fully expand to see all 22 entries
             Thalamus
             Septum   
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Dorsal Horn   
     
     Skeletal Muscle (Muscoskeletal System)

    See KCNC4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KCNC4

    SOURCE GeneReport for Unigene cluster: Hs.153521
        SABiosciences Custom PCR Arrays for KCNC4
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNC4

    (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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for KCNC4 gene from 6/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kcnc41 , 5 potassium voltage gated channel, Shaw-related subfamily, more1, 5 89.13(n)1
    97.03(a)1
      3 (46.83 cM)5
    997381  NM_145922.21  NP_666034.11 
     1074383035 
    chicken
    (Gallus gallus)
    Aves KCNC41 potassium voltage-gated channel, Shaw-related subfamily, more 78.57(n)
    83.14(a)
      419806  XM_003642720.1  XP_003642768.1 
    lizard
    (Anolis carolinensis)
    Reptilia KCNC46
    --
    (see all 3)
    Uncharacterized protein
    (see all 3)
    75(a)
    35(a)
    (see all 3)
    1 ↔ 1
    possible ortholog
    (see all 3)
    4(106450817-106496883)
    GL343465.1(461128-468291)
    zebrafish
    (Danio rerio)
    Actinopterygii kcnc41 potassium voltage-gated channel, Shaw-related subfamily, more 71.17(n)
    73.62(a)
      799410  NM_001195196.1  NP_001182125.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Shaw3 potassium ion transport voltage-gated
    potassium more
    48(a)
    (best of 2)
        --
    worm
    (Caenorhabditis elegans)
    Secernentea shw-33 potassium channel protein 42(a)   V(12975999-12978929)   --


    ENSEMBL Gene Tree for KCNC4 (if available)
    TreeFam Gene Tree for KCNC4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KCNC4 gene
    KCNA62  KCNC22  KCNA22  KCND22  KCND12  KCNA72  KCNA52  KCNA12  
    KCNC12  KCNA42  KCNC32  KCNA32  KCND32  KCNA102  
    15 SIMAP similar genes for KCNC4 using alignment to 2 protein entries:     KCNC4_HUMAN (see all proteins):
    KCNC1    KCNC2    KCNC3    KCNB1    KCNB2    KCNA1
    KCNA10    KCNA2    KCNS1    KCNS3    KCNA7    KCNA3
    KCND1    KCNG3    KCNS2

    KCNC4 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/533 SNPs in KCNC4 are shown (see all 533)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1932970171,2
    C--110751380(+) TCTGGA/CCTGTC 3 -- us2k10--------
    rs1512904481,2
    --110751481(+) TTCGAA/GGAGCA 3 -- us2k10--------
    rs13591491,2
    C,F,O,A,H--110751534(-) GGTGAC/GTTAAT 3 -- us2k1 tfbs324Minor allele frequency- G:0.42MN EA NS NA WA 3228
    rs1405539361,2
    --110751546(+) CCCCTA/GCGTGT 3 -- us2k10--------
    rs13591481,2
    C,F,H--110751574(-) TGACAA/GTGATC 3 -- us2k111Minor allele frequency- G:0.06EA NA MN NS WA 772
    rs1842995501,2
    --110751629(+) AAATCC/TCTTGC 3 -- us2k10--------
    rs791303751,2
    F--110751647(+) CTGAGC/GTTTTA 3 -- us2k11Minor allele frequency- G:0.04NA 120
    rs801607301,2
    C--110751662(+) TTCCTG/AAGACA 3 -- us2k14Minor allele frequency- A:0.07NA WA EA 360
    rs1154107291,2
    F--110751713(+) ACTGCC/TTGATC 3 -- us2k11Minor allele frequency- T:0.02WA 118
    rs2021624411,2
    --110751837(+) AAAAG-/AAAAAA 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for KCNC4 (110753336 - 110825722 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for KCNC4:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv991777CNV Deletion20482838

    SABiosciences Cancer Mutation PCR Assays
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    (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.)
    About This Section
    OMIM gene information: 176265    OMIM disorders: --

    4 diseases for KCNC4:    About MalaCards
    paralysis    alzheimer's disease    neuronitis    gastric cancer


    KCNC4 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): KCNC4

    Export disorders for KCNC4 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)
    About This Section

    PubMed articles for KCNC4 gene, integrated from 9 sources (see all 25):
    (articles sorted by number of sources associating them with KCNC4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genomic organization, nucleotide sequence, and cellular distribution of a Shaw-related potassium channel gene, Kv3.3, and mapping of Kv3.3 and Kv3.4 to human chromosomes 19 and 1. (PubMed id 1740329)1, 3, 9 Ghanshani S....Chandy K.G. (1992)
    2. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    3. International Union of Pharmacology. LIII. Nomenclatu re and molecular relationships of voltage-gated potassium channels. (PubMed id 16382104)1, 3 Gutman G.A....Wang X. (2005)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. Interactions between multiple phosphorylation sites in the inactivation particle of a K+ channel. Insights into the molecular mechanism of protein kinase C action. (PubMed id 9649584)1, 2 Beck E.J.... Covarrubias M. (1998)
    6. Elimination of rapid potassium channel inactivation by phosphorylation of the inactivation gate. (PubMed id 7993631)1, 2 Covarrubias M.... Vyas T.B. (1994)
    7. Cloning of a human cDNA expressing a high voltage-activating, TEA-sensitive, type-A K+ channel which maps to chromosome 1 band p21. (PubMed id 1920536)1, 3 Rudy B....Ward D.C. (1991)
    8. Cell cycle-dependent expression of Kv3.4 channels mod ulates proliferation of human uterine artery smooth muscle cells. (PubMed id 20093253)1, 9 Miguel-Velado E....PAcrez-GarcA-a M.T. (2010)
    9. Phosphorylation and protonation of neighboring MiRP2 sites: function and pathophysiology of MiRP2-Kv3.4 potassium channels in periodic paralysis. (PubMed id 16449802)1, 9 Abbott G.W....Goldstein S.A. (2006)
    10. Coexpression of high-voltage-activated ion channels Kv 3.4 and Cav1.2 in pioneer axons during pathfinding in the developing rat forebra in. (PubMed id 22473424)1 Huang C.Y....Tsaur M.L. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
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    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)
    About This Section
    Entrez Gene: 3749 HGNC: 6236 AceView: KCNC4 Ensembl:ENSG00000116396 euGenes: HUgn3749
    ECgene: KCNC4 H-InvDB: KCNC4

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for KCNC4 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for KCNC4 gene:
    Search GeneIP for patents involving KCNC4

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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