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KCNC3 Gene

protein-coding   GIFtS: 62
GCID: GC19M050815

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

(Previous name: spinocerebellar ataxia 13)
(Previous symbol: SCA13)
  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 31 2     KV3.32
SCA131 2 5     Potassium Voltage-Gated Channel Subfamily C Member 32
Voltage-Gated Potassium Channel Subunit Kv3.32 3     Shaw-Related Voltage-Gated Potassium Channel Protein 32
KSHIIID2 3     Voltage-Gated Potassium Channel Protein KV3.32
Spinocerebellar Ataxia 131     

External Ids:    HGNC: 62351   Entrez Gene: 37482   Ensembl: ENSG000001313987   OMIM: 1762645   UniProtKB: Q140033   

Export aliases for KCNC3 gene to outside databases

Previous GC identifers: GC19M051447 GC19M051180 GC19M055494 GC19M055510 GC19M047156


(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 KCNC3 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.
Alternate splicing results in several transcript variants. (provided by RefSeq, Mar 2014)

GeneCards Summary for KCNC3 Gene:
KCNC3 (potassium voltage-gated channel, Shaw-related subfamily, member 3) is a protein-coding gene. Diseases associated with KCNC3 include spinocerebellar ataxia type13, and spinocerebellar ataxia type 13. GO annotations related to this gene include delayed rectifier potassium channel activity and voltage-gated potassium channel activity. An important paralog of this gene is KCNA6.

UniProtKB/Swiss-Prot: KCNC3_HUMAN, Q14003
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 KCNC3 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 KCNC3 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_000019.10  NT_011109.17  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the KCNC3 gene promoter:
         AhR   TBP   RREB-1   Pax-2a   MIF-1   AP-2gamma   Arnt   c-Ets-1   COMP1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for KCNC3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KCNC3


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

Entrez Gene cytogenetic band: 19q13.33   Ensembl cytogenetic band:  19q13.33   HGNC cytogenetic band: 19q13.33

KCNC3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KCNC3 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M050815:  view genomic region     (about GC identifiers)

Start:
50,815,194 bp from pter      End:
50,836,772 bp from pter
Size:
21,579 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: KCNC3_HUMAN, Q14003 (See protein sequence)
Recommended Name: Potassium voltage-gated channel subfamily C member 3  
Size: 757 amino acids; 80578 Da
Subunit: Heterotetramer of potassium channel proteins (By similarity)

Explore the universe of human proteins at neXtProt for KCNC3: NX_Q14003

Explore proteomics data for KCNC3 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn320, Asn336, Asn483
  • Modification sites at PhosphoSitePlus

  • See KCNC3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004968.2  
    ENSEMBL proteins: 
     ENSP00000366158   ENSP00000432438   ENSP00000434241   ENSP00000375694  
    Reactome Protein details: Q14003

    KCNC3 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for KCNC3
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    Novus Biologicals KCNC3 Protein
    Novus Biologicals KCNC3 Lysate
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    Cloud-Clone Corp. Proteins for KCNC3

    KCNC3 Antibody Products:

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    KCNC3 Assay Products:

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    Cloud-Clone Corp. CLIAs for KCNC3


    (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: Kv3.3
    Voltage-gated potassium channels

    Selected InterPro protein domains (see all 11):
     IPR005821 Ion_trans_dom
     IPR000210 BTB/POZ-like
     IPR021105 K_chnl_volt-dep_Kv3_ID
     IPR011333 BTB/POZ_fold
     IPR027359 Channel_four-helix_dom

    Graphical View of Domain Structure for InterPro Entry Q14003

    ProtoNet protein and cluster: Q14003

    4 Blocks protein domains:
    IPB000210 BTB/POZ domain
    IPB003091 Potassium channel signature
    IPB003974 Shaw voltage-gated K+ channel family signature
    IPB005404 Kv3.3 voltage-gated K+ channel signature


    UniProtKB/Swiss-Prot: KCNC3_HUMAN, Q14003
    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. Kv3.3/KCNC3 sub-subfamily


    KCNC3 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: KCNC3_HUMAN, Q14003
    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 KCNC3:
    potassium voltage-gated channel,Drosophila Shaw-related subfamily,member 3 (mouse Kv3.3 homolog)

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005216ion channel activity ----
    GO:0005249voltage-gated potassium channel activity TAS1740329
    GO:0005251delayed rectifier potassium channel activity IBA--
    GO:0005515protein binding ----
         
    KCNC3 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for KCNC3:
     Increased cell death HMECs cel  Upregulation of Wnt/beta-caten 

         7 MGI mutant phenotypes (inferred from 1 allele(MGI details for Kcnc3):
     behavior/neurological  growth/size/body  homeostasis/metabolism  mortality/aging  muscle 
     nervous system  normal 

    KCNC3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Kcnc3tm1Echa for KCNC3

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KCNC3
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KCNC3
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for KCNC3

    miRNA
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    Block miRNA regulation of human, mouse, rat KCNC3 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate KCNC3:
    hsa-miR-490-3p
    SwitchGear 3'UTR luciferase reporter plasmidKCNC3 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat KCNC3

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    Browse Sino Biological Human cDNA Clones
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNC3


    (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
    KCNC3_HUMAN, Q14003: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0008076voltage-gated potassium channel complex IEA--
    GO:0016020membrane ----
    GO:0030673axolemma IEA--
    GO:0031594neuromuscular junction IEA--

    KCNC3 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 KCNC3 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
    3Dopamine-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 KCNC3
        Dopamine-DARPP32 Feedback onto cAMP Pathway

    1 Reactome Pathway for KCNC3
        Voltage gated Potassium channels



    KCNC3 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including KCNC3: 
              Huntington's Disease in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for KCNC3

    1 Interacting protein for KCNC3 (Q140033) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SUMO1P631653I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006811ion transport ----
    GO:0006813potassium ion transport TAS1740329
    GO:0007268synaptic transmission TAS--
    GO:0008219cell death IEA--
    GO:0046928regulation of neurotransmitter secretion IEA--

    KCNC3 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 KCNC3 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 KCNC3    About this table
    CompoundSynonyms CAS #PubMed Ids
    PotassiumK+ (see all 16)7440-09-7--

    1 IUPHAR Ligand for KCNC3 (Kv3.3)    About this table
    LigandTypeActionAffinityPubmed IDs
    tetraethylammonium
    InhibitorNone--

    1 Novoseek inferred chemical compound relationship for KCNC3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    potassium 54.4 4 1740329 (1), 18448641 (1), 19953606 (1)



    KCNC3 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,
    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 KCNC3 gene: 
    NM_004977.2  

    Unigene Cluster for KCNC3:

    Potassium voltage-gated channel, Shaw-related subfamily, member 3
    Hs.467146  [show with all ESTs]
    Unigene Representative Sequence: AB208930
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000376959(uc002prt.1) ENST00000474951 ENST00000477616(uc002pru.1)
    ENST00000391818
    miRNA
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    1 qRT-PCR Assays for microRNA that regulate KCNC3:
    hsa-miR-490-3p
    SwitchGear 3'UTR luciferase reporter plasmidKCNC3 3' UTR sequence
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat KCNC3

    Additional mRNA sequence: 

    AB208930.1 AF055989.1 AK127492.1 

    3 DOTS entries:

    DT.121420498  DT.401973  DT.92009059 

    21 AceView cDNA sequences:

    AW512445 AW148990 NM_004977 AI014603 AK127492 AI796491 BE552476 AW297613 
    BI087729 AW173117 AF055989 AI346263 AI365599 AA767342 AA860973 CD244420 
    BG991639 H16352 BM474777 BU101932 CB152030 

    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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    KCNC3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCCCCTTCCC
    KCNC3 Expression
    About this image


    KCNC3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Eye (Sensory Organs)
             Retina
    KCNC3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KCNC3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.467146
        Pathway & Disease-focused RT2 Profiler PCR Array including KCNC3: 
              Huntington's Disease in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNC3

    (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 KCNC3 gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kcnc31 , 5 potassium voltage gated channel, Shaw-related subfamily, more1, 5 87.28(n)1
    94.05(a)1
      7 (28.85 cM)5
    165041  NM_008422.21  NP_032448.21 
     445906645 
    lizard
    (Anolis carolinensis)
    Reptilia KCNC36
    potassium voltage-gated channel, Shaw-related subf...
    80(a)
    1 ↔ 1
    GL343287.1(213314-226747)
    African clawed frog
    (Xenopus laevis)
    Amphibia kcnc3-A2 potassium voltage-gated channel, Shaw-related subfamily, more 76.57(n)    AF132853.1 
    zebrafish
    (Danio rerio)
    Actinopterygii kcnc3b1 potassium voltage-gated channel, Shaw-related subfamily, more 72.68(n)
    75.36(a)
      564371  NM_001195241.1  NP_001182170.1 


    ENSEMBL Gene Tree for KCNC3 (if available)
    TreeFam Gene Tree for KCNC3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KCNC3 gene
    KCNA62  KCNC22  KCNA22  KCNC42  KCND22  KCND12  KCNA72  KCNA52  
    KCNA12  KCNC12  KCNA42  KCNA32  KCND32  KCNA102  
    7 SIMAP similar genes for KCNC3 using alignment to 4 protein entries:     KCNC3_HUMAN (see all proteins):
    KCNC1    KCNC2    KCNC4    KCNA10    KCNA4    KCNS1
    KCNS3

    KCNC3 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 KCNC3 (see all 351)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0295304
    Spinocerebellar ataxia 13 (SCA13)4--see VAR_0295302 R H mis40--------
    VAR_0295314
    Spinocerebellar ataxia 13 (SCA13)4--see VAR_0295312 F L mis40--------
    rs1048947001,2
    Cpathogenic150826866(-) GAGTTA/CCTGCT 2 L F mis10--------
    rs1048946991,2
    Cpathogenic150826951(-) CGTCCA/GCATCC 2 H R mis10--------
    rs1921911061,2
    --50818271(+) TGCAGA/CCACAG 1 -- ds50010--------
    rs1384942091,2
    C--50818341(+) GAAAG-/AGAC  
            
    AGAGA
    1 -- ds50010--------
    rs1845706721,2
    --50818422(+) AGGCAA/GACAGA 1 -- ds50010--------
    rs1902013071,2
    --50818477(+) CCAAGA/GAGATG 1 -- ds50010--------
    rs1167010941,2
    C,F--50818590(+) CCACCG/AAGCCT 1 -- ds50011Minor allele frequency- A:0.08WA 118
    rs129769921,2
    C,F--50818776(+) GCCGTA/GGCGGG 1 -- ut31 ese32Minor allele frequency- G:0.36NA EA 240

    HapMap Linkage Disequilibrium report for KCNC3 (50815194 - 50836772 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for KCNC3:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2673553CNV Deletion23128226
    dgv3976n71CNV Loss21882294
    nsv523948CNV Gain19592680

    Human Gene Mutation Database (HGMD): KCNC3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KCNC3
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 176264   
    OMIM disorders: 605259  
    UniProtKB/Swiss-Prot: KCNC3_HUMAN, Q14003
  • Spinocerebellar ataxia 13 (SCA13) [MIM:605259]: Spinocerebellar ataxia is a clinically and genetically
    heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor
    coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement
    of the brainstem and spinal cord. SCA13 is an autosomal dominant cerebellar ataxia (ADCA) characterized by slow
    progression and variable age at onset, ranging from childhood to late adulthood. Mental retardation can be
    present in some patients. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 11 diseases for KCNC3:    
    About MalaCards
    spinocerebellar ataxia type13    spinocerebellar ataxia type 13    spinocerebellar ataxia    cerebellar ataxia
    ataxia    huntington's disease    mental retardation    multiple myeloma
    myeloma    neuronitis    melanoma

    2 diseases from the University of Copenhagen DISEASES database for KCNC3:
    Spinocerebellar ataxia     Cerebellar ataxia

    KCNC3 for disorders           About GeneDecksing

    GeneTests: KCNC3
    GeneReviews: KCNC3
    Human Genome Epidemiology (HuGE) Navigator: KCNC3 (1 document)

    Export disorders for KCNC3 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 KCNC3 gene, integrated from 10 sources (see all 21):
    (articles sorted by number of sources associating them with KCNC3)
        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. Localization of Shaw-related K+ channel genes on mouse and human chromosomes. (PubMed id 8111118)1, 3, 9 Haas M.... Rudy B. (Mamm. Genome 1993)
    3. Kv3.3 potassium channels in lens epithelium and corneal endothelium. (PubMed id 10712820)1, 2, 9 Rae J.L. and Shepard A.R. (Exp. Eye Res. 2000)
    4. Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental nervous system phenotypes. (PubMed id 16501573)1, 2 Waters M.F.... Pulst S.M. (Nat. Genet. 2006)
    5. 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)
    6. KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients. (PubMed id 19953606)1, 9 Figueroa K.P....Pulst S.M. (Hum. Mutat. 2010)
    7. Spinocerebellar ataxia-13 Kv3.3 potassium channels: arginine-to-histidine mutations affect both functional and protein expression on the cell surface. (PubMed id 23734863)1 Zhao J....Thornhill W.B. (Biochem. J. 2013)
    8. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    9. Altered Kv3.3 channel gating in early-onset spinocerebellar ataxia type 13. (PubMed id 22289912)1 Minassian N.A....Papazian D.M. (J. Physiol. (Lond.) 2012)
    10. Spinocerebellar ataxia 13 and 25. (PubMed id 21827913)1 Stevanin G. and DA1rr A. (Handb Clin Neurol 2012)

    (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: 3748 HGNC: 6235 AceView: KCNC3 Ensembl:ENSG00000131398 euGenes: HUgn3748
    ECgene: KCNC3 H-InvDB: KCNC3

    (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 KCNC3 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=KCNC3[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for KCNC3 gene:
    Search GeneIP for patents involving KCNC3

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



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