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KCNT2 Gene

protein-coding   GIFtS: 54
GCID: GC01M196194

Potassium Channel, Subfamily T, Member 2

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Potassium Channel, Subfamily T, Member 21 2     KCa4.22
SLICK2 3 5     SLO2.12
Sequence Like An Intermediate Conductance Potassium Channel Subunit2 3     Potassium Channel Subfamily T Member 22
Sodium And Chloride-Activated ATP-Sensitive Potassium Channel Slo2.12 3     Sodium-And Chloride-Activated ATP-Sensitive Potassium Channel (SLICK)2
Sodium And Chloride Activated ATP Sensitive Potassium Channel1     

External Ids:    HGNC: 188661   Entrez Gene: 3434502   Ensembl: ENSG000001626877   OMIM: 6100445   UniProtKB: Q6UVM33   

Export aliases for KCNT2 gene to outside databases

Previous GC identifers: GC01M193941 GC01U900041 GC01M192927 GC01M194461 GC01M167436


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for KCNT2 Gene:
KCNT2 (potassium channel, subfamily T, member 2) is a protein-coding gene. Diseases associated with KCNT2 include generalized epilepsy and paroxysmal dyskinesia, and paroxysmal dyskinesia. GO annotations related to this gene include voltage-gated potassium channel activity and calcium-activated potassium channel activity. An important paralog of this gene is KCNMA1.

UniProtKB/Swiss-Prot: KCNT2_HUMAN, Q6UVM3
Function: Outward rectifying potassium channel. Produces rapidly activating outward rectifier K(+) currents.
Activated by high intracellular sodium and chloride levels. Channel activity is inhibited by ATP and by
inhalation anesthetics, such as isoflurane (By similarity). Inhibited upon stimulation of G-protein coupled
receptors, such as CHRM1 and GRIA1

summary for KCNT2 Gene:
Ca2+-activated potassium channels (KCa) are a group of 6/7-TM ion channels that selectively transport K+
ions across biological membranes. They are broadly classified into three subtypes, SK, IK and BK channels,
based on their conductance (small, intermediate and big conductance respectively). The small conductance KCa
channels (KCa2.1, 2.2 and 2.3, also known as SK1, SK2 and SK3 respectively) and the intermediate conductance
KCa channel (KCa3.1, also known as SK4) are voltage-insensitive and are activated by Ca2+-calmodulin. Both
play important roles in many processes involving Ca2+-dependent signalling in both electrically excitable
and non-excitable cells. The BK family of KCa channels (also known as Slo or Maxi-K channels) are also
voltage-sensitive and include KCa1.1 (Slo1), KCa4.1 (Slo2.2), KCa4.2 (Slo2.1) and KCa5.1 (Slo3). These
channels do not require calmodulin for activation as they contain three direct bivalent cation binding
sites.

Gene Wiki entry for KCNT2 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_004487.20  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the KCNT2 gene promoter:
         TBP   HOXA9   HOXA9B   Pbx1a   Tal-1beta   E47   c-Ets-1   TFIID   Meis-1a   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKCNT2 promoter sequence
   Search Chromatin IP Primers for KCNT2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KCNT2


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

Entrez Gene cytogenetic band: 1q31.3   Ensembl cytogenetic band:  1q31.3   HGNC cytogenetic band: 1q31.3

KCNT2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KCNT2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M196194:  view genomic region     (about GC identifiers)

Start:
196,194,909 bp from pter      End:
196,578,355 bp from pter
Size:
383,447 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: KCNT2_HUMAN, Q6UVM3 (See protein sequence)
Recommended Name: Potassium channel subfamily T member 2  
Size: 1135 amino acids; 130501 Da
Secondary accessions: Q3SY59 Q5VTN1 Q6ZMT3
Alternative splicing: 4 isoforms:  Q6UVM3-1   Q6UVM3-2   Q6UVM3-3   Q6UVM3-4   

Explore the universe of human proteins at neXtProt for KCNT2: NX_Q6UVM3

Explore proteomics data for KCNT2 at MOPED

Post-translational modifications: 

  • Phosphorylated by protein kinase C. Phosphorylation of the C-terminal domain inhibits channel activity1
  • Glycosylation2 at Asn99
  • Modification sites at PhosphoSitePlus

  • See KCNT2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001274748.1  NP_001274749.1  NP_940905.2  

    ENSEMBL proteins: 
     ENSP00000356403   ENSP00000476657   ENSP00000294725   ENSP00000477456   ENSP00000356401  
     ENSP00000405474  

    KCNT2 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for KCNT2
    OriGene Custom MassSpec
    OriGene Custom Protein Services for KCNT2
    GenScript Custom Purified and Recombinant Proteins Services for KCNT2
    Novus Biologicals KCNT2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for KCNT2

    KCNT2 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
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    Novus Biologicals KCNT2 Antibodies
    Abcam antibodies for KCNT2
    Cloud-Clone Corp. Antibodies for KCNT2
    ThermoFisher Antibodies for KCNT2
    LSBio Antibodies in human, mouse, rat for KCNT2

    KCNT2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for KCNT2
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for KCNT2
    Cloud-Clone Corp. CLIAs for KCNT2


    (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
    KCa: Voltage-gated ion channels / Potassium channels, calcium-activated

    IUPHAR Guide to PHARMACOLOGY protein family classification: KCa4.2
    Calcium-activated potassium channels

    3 InterPro protein domains:
     IPR016040 NAD(P)-bd_dom
     IPR013099 2pore_dom_K_chnl_dom
     IPR003929 K_chnl_Ca-activ_BK_asu

    Graphical View of Domain Structure for InterPro Entry Q6UVM3

    ProtoNet protein and cluster: Q6UVM3

    1 Blocks protein domain: IPB013099 Ion transport 2

    UniProtKB/Swiss-Prot: KCNT2_HUMAN, Q6UVM3
    Similarity: Belongs to the potassium channel family. Calcium-activated (TC 1.A.1.3) subfamily. KCa4.2/KCNT2
    sub-subfamily
    Similarity: Contains 1 RCK N-terminal domain


    KCNT2 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: KCNT2_HUMAN, Q6UVM3
    Function: Outward rectifying potassium channel. Produces rapidly activating outward rectifier K(+) currents.
    Activated by high intracellular sodium and chloride levels. Channel activity is inhibited by ATP and by
    inhalation anesthetics, such as isoflurane (By similarity). Inhibited upon stimulation of G-protein coupled
    receptors, such as CHRM1 and GRIA1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005249voltage-gated potassium channel activity IBA--
    GO:0005524ATP binding IEA--
    GO:0015269calcium-activated potassium channel activity IBA--
         
    KCNT2 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for KCNT2:
     Increased circadian period len  Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KCNT2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for KCNT2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KCNT2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for KCNT2

    miRNA
    Products:
        
    miRTarBase miRNAs that target KCNT2:
    hsa-mir-335-5p (MIRT017687)

    Block miRNA regulation of human, mouse, rat KCNT2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate KCNT2 (see all 31):
    hsa-miR-582-3p hsa-miR-3910 hsa-miR-3607-5p hsa-miR-4307 hsa-miR-607 hsa-miR-522 hsa-miR-4305 hsa-miR-944
    SwitchGear 3'UTR luciferase reporter plasmidKCNT2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for KCNT2
    Predesigned siRNA for gene silencing in human, mouse, rat KCNT2

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for KCNT2 (see all 6)
    OriGene ORF clones in mouse, rat for KCNT2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: KCNT2 (NM_198503)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for KCNT2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KCNT2

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for KCNT2
    Browse ESI BIO Cell Lines and PureStem Progenitors for KCNT2 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNT2


    (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
    KCNT2_HUMAN, Q6UVM3: Cell membrane; Multi-pass membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    peroxisome1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008076voltage-gated potassium channel complex IBA--
    GO:0016020membrane ----

    KCNT2 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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    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for KCNT2 (see all 13)
        Cholera Infection
    Neuropathic Pain-Signaling in Dorsal Horn Neurons
    Hepatic ABC Transporters
    PKA Signaling
    Sweet Taste Signaling


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KCNT2
    Interactions:

        Search GeneGlobe Interaction Network for KCNT2

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006813potassium ion transport ----
    GO:0071805potassium ion transmembrane transport IBA--

    KCNT2 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 KCNT2 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    PaxillineSERCA ATPase blocker. Also potent BKCa channel blocker[57186-25-1]
    TRAM 34Highly selective KCa3.1 channel blocker[289905-88-0]
    CyPPAActivator of KCa2.2 and KCa2.3 channels[73029-73-9]
    ApaminKCa2 channel blocker (small conductance)[24345-16-2]
    IberiotoxinKCa channel blocker (big conductance)[129203-60-7]

    3 HMDB Compounds for KCNT2    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    ChlorineCl2 (see all 13)16887-00-6--
    SodiumSodium (see all 2)7440-23-5--

    7 IUPHAR Ligands for KCNT2 (KCa4.2)    About this table
    LigandTypeActionAffinityPubmed IDs
    phorbol 12-myristate 13-acetate
    Gating inhibitorInhibition7.9216687497
    Ba2+
    Pore BlockerInhibition314684870
    iberiotoxin
    InhibitorNone3--
    tetraethylammonium
    Pore BlockerInhibition3--
    NS1619
    ActivatorNone3--
    charybdotoxin
    InhibitorNone3--
    NS004
    ActivatorNone3--



    (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 KCNT2 gene (3 alternative transcripts): 
    NM_001287819.1  NM_001287820.1  NM_198503.3  

    Unigene Cluster for KCNT2:

    Potassium channel, subfamily T, member 2
    Hs.657046  [show with all ESTs]
    Unigene Representative Sequence: BX647852
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000367433(uc001gtd.1 uc001gtf.1 uc001gtg.1) ENST00000498426(uc009wyt.1)
    ENST00000609185 ENST00000294725(uc001gth.1 uc009wyu.3 uc009wyv.1)
    ENST00000610076 ENST00000466914 ENST00000367431(uc001gte.1) ENST00000451324


    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat KCNT2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate KCNT2 (see all 31):
    hsa-miR-582-3p hsa-miR-3910 hsa-miR-3607-5p hsa-miR-4307 hsa-miR-607 hsa-miR-522 hsa-miR-4305 hsa-miR-944
    SwitchGear 3'UTR luciferase reporter plasmidKCNT2 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for KCNT2
    Predesigned siRNA for gene silencing in human, mouse, rat KCNT2
    Clone
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    OriGene clones in human, mouse for KCNT2 (see all 6)
    OriGene ORF clones in mouse, rat for KCNT2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: KCNT2 (NM_198503)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for KCNT2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KCNT2
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for KCNT2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat KCNT2
      QuantiTect SYBR Green Assays in human, mouse, rat KCNT2
      QuantiFast Probe-based Assays in human, mouse, rat KCNT2

    Additional mRNA sequence: 

    AK021684.1 AK127807.1 AK131498.1 AK309729.1 AY359444.1 BC103947.1 BC103948.1 BC103949.1 
    BC103950.1 BX647852.1 EU251076.1 

    8 DOTS entries:

    DT.100721194  DT.405671  DT.100654802  DT.95309125  DT.405670  DT.91959352  DT.40233416  DT.91652261 

    Selected AceView cDNA sequences (see all 27):

    AY359444 AK131498 BU101736 BX482174 NM_198503 BE350607 CD643951 AK127807 
    AI732637 CD656098 BX503508 AW167113 BX647852 AK021684 AA599741 AU118688 
    AU145191 Z78375 AI791929 AV748447 R51506 R51505 BG461868 Z78376 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for KCNT2    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^
    SP1:                                                                                                                    -                                       
    SP2:                                                                                                              -                                             

    ExUns: 27 ^ 28a · 28b
    SP1:                  
    SP2:                  


    ECgene alternative splicing isoforms for KCNT2

    (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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    KCNT2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    KCNT2 Expression
    About this image


    KCNT2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Neurons
             Type1 Off Cone Bipolar Cells Inner Nuclear Layer
     
     Eye (Sensory Organs)
             Type1 Off Cone Bipolar Cells Inner Nuclear Layer
     
     Liver (Hepatobiliary System)
    KCNT2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KCNT2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.657046
        Custom PCR Arrays for KCNT2
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for KCNT2
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    QuantiFast Probe-based Assays in human, mouse, rat KCNT2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNT2

    (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 KCNT2 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kcnt21 , 5 potassium channel, subfamily T, member 21, 5 90.46(n)1
    97.53(a)1
      1 (61.62 cM)5
    2407761  NM_001081027.21  NP_001074496.21 
     1402462165 
    chicken
    (Gallus gallus)
    Aves KCNT21 potassium channel, subfamily T, member 2 83.7(n)
    91.89(a)
      429058  XM_426614.4  XP_426614.3 
    lizard
    (Anolis carolinensis)
    Reptilia KCNT26
    potassium channel, subfamily T, member 2
    89(a)
    1 ↔ 1
    GL343440.1(440801-727196)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia kcnt11 potassium channel, subfamily T, member 1 68.85(n)
    76.53(a)
      779818  XM_004918865.1  XP_004918922.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5656911 potassium channel subfamily T member 2-like 68.67(n)
    78.38(a)
      565691  XM_005164251.1  XP_005164308.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG427326
    --
    33(a)
    1 ↔ 1
    2R(6209700-6304501)
    worm
    (Caenorhabditis elegans)
    Secernentea slo-26
    Protein SLO-2, isoform e
    43(a)
    1 ↔ 1
    X(11394605-11405931) WBGene00004831


    ENSEMBL Gene Tree for KCNT2 (if available)
    TreeFam Gene Tree for KCNT2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KCNT2 gene
    KCNMA12  KCNT12  KCNU12  
    1 SIMAP similar gene for KCNT2 using alignment to 5 protein entries:     KCNT2_HUMAN (see all proteins):
    KCNT1

    KCNT2 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 KCNT2 (see all 6678)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0375274
    A breast cancer sample4--see VAR_0375272 V I mis40--------
    rs676644371,2
    C,F--167804443(-) ATATA-/G/G   
      TGT
    /TG
    TGTGT
    1 -- int12NA CSA 4
    rs669352121,2
    C--196253379(-) ATATA-/TATATATATATATATATATATATATTTTTTTTTTTTT/T
    ATATATATATATATATATATATTTTTTTTTTTTTTT
    /TTTT
    TTTTT
    1 -- int11NA 2
    rs75129041,2
    C--196253380(+) aaaaaA/Tatata 1 -- int10--------
    rs1874980311,2
    --196406236(+) ATTTAA/TATATA 1 -- int10--------
    rs121239681,2
    C--196406268(+) TTTTTA/TAATTT 1 -- int11Minor allele frequency- T:0.00NA 2
    rs1840811851,2
    --196406290(+) GCAGGA/GGATAT 1 -- int10--------
    rs1896607191,2
    --196406315(+) AATGTC/GTGTTA 1 -- int10--------
    rs105917491,2
    C--196410556(+) TCTAC-/TTTTTTTT 1 -- int11Minor allele frequency- TTT:0.00NA 2
    rs342209131,2
    C--196410556(+) TCTAC-/TTTTTTTT 2 -- int1 cds10--------

    HapMap Linkage Disequilibrium report for KCNT2 (196194909 - 196444909 bp, first 250kb of KCNT2)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for KCNT2 (see all 14):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2720984CNV Deletion23290073
    esv2720973CNV Deletion23290073
    esv1933670CNV Deletion18987734
    esv1430984CNV Insertion17803354
    nsv872953CNV Loss21882294
    dgv493n71CNV Loss21882294
    nsv872955CNV Loss21882294
    nsv508685CNV Loss20534489
    nsv872954CNV Loss21882294
    nsv528460CNV Gain19592680

    Site Specific Mutation Identification with 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

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    OMIM gene information: 610044    OMIM disorders: --

    5 diseases for KCNT2:    
    About MalaCards
    generalized epilepsy and paroxysmal dyskinesia    paroxysmal dyskinesia    breast and colorectal cancer    alzheimer's disease
    colorectal cancer


    KCNT2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): KCNT2

    Export disorders for KCNT2 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

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    PubMed articles for KCNT2 gene, integrated from 10 sources (see all 13):
    (articles sorted by number of sources associating them with KCNT2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Slick (Slo2.1), a rapidly-gating sodium-activated potassium channel inhibited by ATP. (PubMed id 14684870)1, 2, 9 Bhattacharjee A....Kaczmarek L.K. (J. Neurosci. 2003)
    2. Opposite regulation of Slick and Slack K+ channels by neuromodulators. (PubMed id 16687497)1, 2, 9 Santi C.M.... Salkoff L. (J. Neurosci. 2006)
    3. International Union of Pharmacology. LII. Nomenclature and molecular relationships of calcium-activated potassium channels. (PubMed id 16382103)1, 3 Wei A.D....Wulff H. (Pharmacol. Rev. 2005)
    4. Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis. (PubMed id 23577725)1 Naj A.C....Pericak-Vance M.A. (Ann. Hum. Genet. 2013)
    5. Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease. (PubMed id 21116278)1 Furney S.J.... . (Mol. Psychiatry 2011)
    6. Genome-wide association with select biomarker traits in the Framingham Heart Study. (PubMed id 17903293)4 Benjamin E.J....Vasan R.S. (BMC Med. Genet. 2007)
    7. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)
    8. The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (Science 2006)
    9. 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)
    10. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (Nature 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

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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)
    About This Section

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    Entrez Gene: 343450 HGNC: 18866 AceView: SLICK Ensembl:ENSG00000162687 euGenes: HUgn343450
    ECgene: KCNT2 H-InvDB: KCNT2

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (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 KCNT2 Pharmacogenomics, SNPs, Pathways

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

    TryGeneCards Plus
    Patent Information for KCNT2 gene:
    Search GeneIP for patents involving KCNT2

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



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