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KCNC4 Gene

protein-coding   GIFtS: 65
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)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

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   
ORGUL members:         

Export aliases for KCNC4 gene to outside databases

Previous GC identifers: GC01P111170 GC01P109620 GC01P109856 GC01P110052 GC01P110466 GC01P110555 GC01P108626


(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 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 alzheimer's disease, and neuronitis. GO annotations related to this gene include voltage-gated 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NT_032977.10  NC_018912.2  
Regulatory elements:
   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 Chromatin IP Primers for KCNC4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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, Cloud-Clone Corp, and/or others.)
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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)
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: 

  • Phosphorylation of serine residues in the inactivation gate inhibits rapid channel closure1
  • Glycosylation2 at Asn256, Asn265
  • Modification sites at PhosphoSitePlus

  • See KCNC4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000436656   ENSP00000358802   ENSP00000388029   ENSP00000393655  
    Reactome Protein details: Q03721

    KCNC4 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: Kv3.4
    Voltage-gated potassium channels

    Selected InterPro protein domains (see all 11):
     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,
    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: 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:    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: Let us create your new Knockout/Knockin mouse model for KCNC4
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    miRNA
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    miRTarBase miRNAs that target KCNC4:
    hsa-let-7b-5p (MIRT052053), hsa-mir-16-5p (MIRT031651), hsa-mir-124-3p (MIRT022478), hsa-mir-103a-3p (MIRT027123)

    Block miRNA regulation of human, mouse, rat KCNC4 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate KCNC4 (see all 90):
    hsa-miR-582-3p hsa-miR-1321 hsa-miR-15a hsa-miR-4315 hsa-miR-632 hsa-miR-149 hsa-miR-92b hsa-miR-3612
    SwitchGear 3'UTR luciferase reporter plasmidKCNC4 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNC4


    (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
    KCNC4_HUMAN, Q03721: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    nucleus2
    cytosol1

    Gene Ontology (GO): 5 cellular component terms:    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


    (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 KCNC4 About    
    See pathways by source

    SuperPathContained pathways About
    1Potassium Channels
    Potassium Channels0.43
    Potassium transporters outward current0.41
    Voltage gated Potassium channels0.43
    2Transmission across Chemical Synapses
    Neuronal System0.68
    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

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

    1 Reactome Pathway for KCNC4
        Voltage gated Potassium channels



    KCNC4 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KCNC4
    Interactions:

        GeneGlobe Interaction Network for KCNC4

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

    Selected Interacting proteins for KCNC4 (ENSP000003588024) via UniProtKB, MINT, STRING, and/or I2D (see all 42)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KCNA10ENSP000003587864STRING: ENSP00000358786
    KCNA2ENSP000003145204STRING: ENSP00000314520
    KCNA3ENSP000003587844STRING: ENSP00000358784
    KCNA4ENSP000003285114STRING: ENSP00000328511
    KCNA5ENSP000002523214STRING: ENSP00000252321
    About this table

    Gene Ontology (GO): Selected biological process terms (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, 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 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)



    KCNC4 for compounds           About GeneDecksing



    (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 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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    hsa-miR-582-3p hsa-miR-1321 hsa-miR-15a hsa-miR-4315 hsa-miR-632 hsa-miR-149 hsa-miR-92b hsa-miR-3612
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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 

    Selected AceView cDNA sequences (see all 96):

    BX489205 NM_004978 BM966921 Z38845 BQ189347 AK125567 BM966873 BX098184 
    AI860726 BM765446 CK823243 NM_153763 BQ022636 F03407 AW237067 AA298743 
    BC025377 BM966789 BM966756 BQ025478 Z40464 BU188711 AI204639 BP431831 

    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™, 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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    KCNC4 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 2) fully expand
     
     Brain (Nervous System)    fully expand to see all 22 entries
             Thalamus
             Septum   
     
     Skeletal Muscle (Muscoskeletal System)
    KCNC4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KCNC4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.153521
        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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for KCNC4 gene from Selected species (see all 13)    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 78.29(n)
    82.81(a)
      419806  XM_003642720.2  XP_003642768.1 
    lizard
    (Anolis carolinensis)
    Reptilia KCNC46
    potassium voltage-gated channel, Shaw-related subf...
    75(a)
    1 ↔ 1
    4(106450817-106496883)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia kcnc41 potassium voltage-gated channel, Shaw-related subfamily, more 70.54(n)
    79.86(a)
      100492941  XM_002932997.2  XP_002933043.1 
    zebrafish
    (Danio rerio)
    Actinopterygii kcnc41 potassium voltage-gated channel, Shaw-related subfamily, more 71.06(n)
    73.62(a)
      799410  NM_001195196.1  NP_001182125.1 


    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)
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    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), 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 KCNC4 (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

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KCNC4
    DNA2.0 Custom Variant and Variant Library Synthesis for KCNC4

    (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: 176265    OMIM disorders: --

    4 diseases for KCNC4:    
    About MalaCards
    alzheimer's disease    neuronitis    squamous cell carcinoma    cerebritis


    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)
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    PubMed articles for KCNC4 gene, integrated from 10 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. (Genomics 1992)
    2. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    3. 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)
    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. (Genome Res. 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. (J. Gen. Physiol. 1998)
    6. Elimination of rapid potassium channel inactivation by phosphorylation of the inactivation gate. (PubMed id 7993631)1, 2 Covarrubias M.... Vyas T.B. (Neuron 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. (J. Neurosci. Res. 1991)
    8. Cell cycle-dependent expression of Kv3.4 channels modulates proliferation of human uterine artery smooth muscle cells. (PubMed id 20093253)1, 9 Miguel-Velado E....PAcrez-GarcA-a M.T. (Cardiovasc. Res. 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. (FASEB J. 2006)
    10. Coexpression of high-voltage-activated ion channels Kv3.4 and Cav1.2 in pioneer axons during pathfinding in the developing rat forebrain. (PubMed id 22473424)1 Huang C.Y....Tsaur M.L. (J. Comp. Neurol. 2012)

    (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: 3749 HGNC: 6236 AceView: KCNC4 Ensembl:ENSG00000116396 euGenes: HUgn3749
    ECgene: KCNC4 H-InvDB: KCNC4

    (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 KCNC4 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 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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