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KCNA2 Gene

protein-coding   GIFtS: 62
GCID: GC01M111137

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

  See KCNA2-related disease
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, Shaker-Related Subfamily, Member 21 2     KV1.22
Voltage-Gated K(+) Channel HuKIV2 3     MK22
Voltage-Gated Potassium Channel HBK52 3     RBK22
Voltage-Gated Potassium Channel Subunit Kv1.22 3     Potassium Voltage-Gated Channel Subfamily A Member 22
NGK12 3     Voltage-Gated Potassium Channel Protein Kv1.22
HBK52     EC 3.6.1.278
HK42     EC 6.1.18
HUKIV2     

External Ids:    HGNC: 62201   Entrez Gene: 37372   Ensembl: ENSG000001773017   OMIM: 1762625   UniProtKB: P163893   

Export aliases for KCNA2 gene to outside databases

Previous GC identifers: GC01M111562 GC01M110012 GC01M110238 GC01M110434 GC01M110848 GC01M110947 GC01M109017


(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 KCNA2 Gene:
Potassium channels represent the most complex class of voltage-gated ion channels from both functional and
structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin
secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume.
Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in
Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium
channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a
shaker-type repeat in the fourth segment. It belongs to the delayed rectifier class, members of which allow nerve
cells to efficiently repolarize following an action potential. The coding region of this gene is intronless, and
the gene is clustered with genes KCNA3 and KCNA10 on chromosome 1. (provided by RefSeq, Jul 2008)

GeneCards Summary for KCNA2 Gene:
KCNA2 (potassium voltage-gated channel, shaker-related subfamily, member 2) is a protein-coding gene. Diseases associated with KCNA2 include benign neonatal seizures. 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: KCNA2_HUMAN, P16389
Function: Mediates the voltage-dependent potassium ion permeability of excitable membranes. Assuming opened or
closed conformations in response to the voltage difference across the membrane, the protein forms a
potassium-selective channel through which potassium ions may pass in accordance with their electrochemical
gradient

summary for KCNA2 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 KCNA2 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 at NCBI GenBank:
NC_000001.10  NC_018912.2  NT_032977.10  
Regulatory elements:
   Regulatory transcription factor binding sites in the KCNA2 gene promoter:
         Nkx3-1   CREB   deltaCREB   Nkx3-1 v3   STAT3   Nkx3-1 v1   Nkx2-5   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKCNA2 promoter sequence
   Search Chromatin IP Primers for KCNA2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KCNA2


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

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

KCNA2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KCNA2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M111137:  view genomic region     (about GC identifiers)

Start:
111,136,202 bp from pter      End:
111,174,096 bp from pter
Size:
37,895 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: KCNA2_HUMAN, P16389 (See protein sequence)
Recommended Name: Potassium voltage-gated channel subfamily A member 2  
Size: 499 amino acids; 56717 Da
Subunit: Heterotetramer of potassium channel proteins. Binds PDZ domains of DLG1, DLG2 and DLG4 (By similarity)
Secondary accessions: Q86XG6
Alternative splicing: 2 isoforms:  P16389-1   P16389-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for KCNA2: NX_P16389

Explore proteomics data for KCNA2 at MOPED

Post-translational modifications: 

  • Phosphorylated on tyrosine residues by activated PTK2B/PYK2; this regulates ion channel activity (By similarity)1
  • Glycosylation2 at Asn38, Asn207
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for KCNA2 (P16389)
     PETLLGD  SRSASTI 


    See KCNA2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001191198.1  NP_004965.1  

    ENSEMBL proteins: 
     ENSP00000358785   ENSP00000433109   ENSP00000314520   ENSP00000415257  
    Reactome Protein details: P16389

    KCNA2 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: Kv1.2
    Voltage-gated potassium channels

    Selected InterPro protein domains (see all 10):
     IPR005821 Ion_trans_dom
     IPR000210 BTB/POZ-like
     IPR011333 BTB/POZ_fold
     IPR003972 K_chnl_volt-dep_Kv1
     IPR027359 Channel_four-helix_dom

    Graphical View of Domain Structure for InterPro Entry P16389

    ProtoNet protein and cluster: P16389

    4 Blocks protein domains:
    IPB000210 BTB/POZ domain
    IPB003091 Potassium channel signature
    IPB003972 Skaker voltage-gated K+ channel family signature
    IPB004049 Kv1.2 voltage-gated K+ channel signature


    UniProtKB/Swiss-Prot: KCNA2_HUMAN, P16389
    Domain: The N-terminus may be important in determining the rate of inactivation of the channel while the tail may
    play a role in modulation of channel activity and/or targeting of the channel to specific subcellular
    compartments
    Domain: The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino
    acids at every third position
    Similarity: Belongs to the potassium channel family. A (Shaker) (TC 1.A.1.2) subfamily. Kv1.2/KCNA2 sub-subfamily


    Find genes that share domains with KCNA2           About GenesLikeMe


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

         UniProtKB/Swiss-Prot Summary: KCNA2_HUMAN, P16389
    Function: Mediates the voltage-dependent potassium ion permeability of excitable membranes. Assuming opened or
    closed conformations in response to the voltage difference across the membrane, the protein forms a
    potassium-selective channel through which potassium ions may pass in accordance with their electrochemical
    gradient

         Genatlas biochemistry entry for KCNA2:
    potassium voltage-gated channel,Drosophila shaker-related subfamily,member 2 (mouse Kv1.2 homolog),localized in
    terminal and juxtaparanodal regions of neurons

         Enzyme Numbers (IUBMB): EC 3.6.1.272 EC 6.1.12

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005216ion channel activity ----
    GO:0005249voltage-gated potassium channel activity TAS2251283
    GO:0005251delayed rectifier potassium channel activity TAS1715584
    GO:0005267potassium channel activity TAS2722779
    GO:0005515protein binding ----
         
    Find genes that share ontologies with KCNA2           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for KCNA2:
     Increased cell death HMECs cel 

         5 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Kcna2):
     behavior/neurological  growth/size/body  mortality/aging  nervous system  respiratory system 

    Find genes that share phenotypes with KCNA2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for KCNA2: Kcna2tm1Tem Kcna2tm1Lex

       genOway: Develop your customized and physiologically relevant rodent model for KCNA2

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    SwitchGear 3'UTR luciferase reporter plasmidKCNA2 3' UTR sequence
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    (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
    KCNA2_HUMAN, P16389: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    extracellular2
    nucleus2
    cytoskeleton1
    endoplasmic reticulum1

    Gene Ontology (GO): 4 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:0044224juxtaparanode region of axon ISS--

    Find genes that share ontologies with KCNA2           About GenesLikeMe


    (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 KCNA2 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


    Find genes that share SuperPaths with KCNA2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for KCNA2
        Dopamine-DARPP32 Feedback onto cAMP Pathway

    1 Reactome Pathway for KCNA2
        Voltage gated Potassium channels


        Pathway & Disease-focused RT2 Profiler PCR Array including KCNA2: 
              Neuronal Ion Channels in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for KCNA2

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

    Selected Interacting proteins for KCNA2 (P163893 ENSP000003145204) via UniProtKB, MINT, STRING, and/or I2D (see all 85)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DLG1Q129593, ENSP000003457314I2D: score=4 STRING: ENSP00000345731
    KCNAB1Q147223, ENSP000004199524I2D: score=4 STRING: ENSP00000419952
    CTTNQ142473, ENSP000003018434I2D: score=2 STRING: ENSP00000301843
    KCNA3P220013, ENSP000003587844I2D: score=2 STRING: ENSP00000358784
    KCNA4P224593, ENSP000003285114I2D: score=2 STRING: ENSP00000328511
    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 TAS2251283
    GO:0007268synaptic transmission TAS--
    GO:0021633optic nerve structural organization IEA--
    GO:0051259protein oligomerization ----

    Find genes that share ontologies with KCNA2           About GenesLikeMe



    (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 KCNA2 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    ICA 110381KV7.2/7.3 activator; displays anticonvulsant properties[325457-99-6]
    XE 991 dihydrochloride Potent, selective KV7 (KCNQ) channel blocker; blocks M-current [122955-42-4]
    JNJ 303Potent and selective IKs blocker[878489-28-2]
    E-4031 dihydrochlorideKV11.1 (hERG) channel blocker; inhibits rapid delayed rectifier K+ current (IKr)[113559-13-0]
    ShK-Dap22Extremely potent and selective KV1.3 blocker; suppresses T cell activation in vitro[220384-25-8]

    3 IUPHAR Ligands for KCNA2 (Kv1.2)    About this table
    LigandTypeActionAffinityPubmed IDs
    noxiustoxin
    InhibitorNone--
    alpha-dendrotoxin
    InhibitorNone--
    margatoxin
    InhibitorNone--

    10 Novoseek inferred chemical compound relationships for KCNA2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    anisomycin 68.8 3 16424170 (1), 18398666 (1), 10391889 (1)
    benzothiophene 67.7 5 19616942 (2), 19616945 (2), 20237073 (1)
    sb 203580 66 2 17481585 (1), 14499342 (1)
    potassium 39.1 19 1436093 (2), 10617203 (1), 19093881 (1), 9875368 (1) (see all 11)
    arsenite 34.7 1 15944294 (1)
    serine 32.5 2 11551945 (1), 17481585 (1)
    adenylate 9.99 2 12565831 (2)
    lipid 0 1 1436093 (1)
    phosphatidylinositol 0 1 12832460 (1)
    h2o2 0 1 14517288 (1)



    Find genes that share compounds with KCNA2           About GenesLikeMe



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for KCNA2 gene (2 alternative transcripts): 
    NM_001204269.1  NM_004974.3  

    Unigene Clusters for KCNA2:

    Potassium voltage-gated channel, shaker-related subfamily, member 2
    Hs.248139  [show with all ESTs], Hs.657199  [show with all ESTs]
    Unigene Representative Sequences: NM_004974, BC043564
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000369770(uc009wfv.2) ENST00000485317 ENST00000316361(uc009wfw.3)
    ENST00000525120 ENST00000440270
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    Additional mRNA sequence: BC043564.1 

    3 DOTS entries:

    DT.208540  DT.91750614  DT.95301346 

    7 AceView cDNA sequences:

    L02752 BI907383 NM_004974 BM718279 BC043564 BP346542 AW022870 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for KCNA2    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7
    SP1:        -     -                                       
    SP2:                          -                           
    SP3:                                                      


    ECgene alternative splicing isoforms for KCNA2

    (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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    KCNA2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGTGTACATA
    KCNA2 Expression
    About this image


    KCNA2 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
     
     Thymus (Hematopoietic System)
             Double Positive Thymocytes Thymus
     
     Blood (Cardiovascular System)
             Double Positive Thymocytes Thymus
     
     Eye (Sensory Organs)
    KCNA2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KCNA2 Protein Expression

    SOURCE GeneReport for Unigene clusters: Hs.248139 Hs.657199
        Pathway & Disease-focused RT2 Profiler PCR Array including KCNA2: 
              Neuronal Ion Channels in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNA2

    (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 KCNA2 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kcna21 , 5 potassium voltage-gated channel, shaker-related subfamily, more1, 5 93.92(n)1
    99.4(a)1
      3 (46.61 cM)5
    164901  NM_008417.51  NP_032443.31 
     1071015675 
    chicken
    (Gallus gallus)
    Aves KCNA21 potassium voltage-gated channel, shaker-related subfamily, more 83.57(n)
    97.8(a)
      395117  NM_204463.1  NP_989794.1 
    lizard
    (Anolis carolinensis)
    Reptilia KCNA26
    potassium voltage-gated channel, shaker-related su...
    96(a)
    1 ↔ 1
    4(106835258-106836757)
    African clawed frog
    (Xenopus laevis)
    Amphibia kcna2-A-prov2 Kv1.2' potassium channel 78.07(n)    AF323749.1 
    zebrafish
    (Danio rerio)
    Actinopterygii kcna2b1 potassium voltage-gated channel, shaker-related subfamily, more 76.97(n)
    92.73(a)
      562853  NM_001111170.1  NP_001104640.1 


    ENSEMBL Gene Tree for KCNA2 (if available)
    TreeFam Gene Tree for KCNA2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KCNA2 gene
    KCNA62  KCNC22  KCNC42  KCND22  KCND12  KCNA72  KCNA52  KCNA12  
    KCNC12  KCNA42  KCNC32  KCNA32  KCND32  KCNA102  
    Selected SIMAP similar genes for KCNA2 using alignment to 1 protein entry:     KCNA2_HUMAN(see all similar genes):
    KCNA1    KCNA5    KCNA3    KCNA4    KCNA7    KCNA10
    KCNA6    KCNB2    KCNB1    KCND1    KCND3    KCNC2
    KCNS1    KCNS2    KCND2    KCNC4    KCNF1    KCNC1

    Find genes that share paralogs with KCNA2           About GenesLikeMe



    (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 KCNA2 (see all 751)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs665017111,2
    C--109034070(+) GAGCG-/GA    
       
    /GAGA
    AGAGA
    1 -- int11NA 2
    rs753053561,2
    C--111144860(+) GTCTA-/TTTTTT 1 -- int10--------
    rs567996551,2
    --111208983(+) GAAGAC/TACAGG 1 -- ds50010--------
    rs1508410841,2
    --111208987(+) ATACAA/GGAAGT 1 -- ds50010--------
    rs1393029981,2
    --111209001(+) GATGTA/GATTGG 1 -- ds50010--------
    rs170261661,2
    C,F--111209056(+) GCCTCG/ATCTGC 1 -- ds50013Minor allele frequency- A:0.02NA 142
    rs1167467561,2
    F--111209121(+) TCCAGG/CAGGAC 1 -- ds50011Minor allele frequency- C:0.01WA 118
    rs1827908271,2
    --111209164(+) CCTCAA/TGGCCA 1 -- ds50010--------
    rs1443275261,2
    --111209437(+) CATATA/GTACAC 1 -- ut310--------
    rs1874774631,2
    C--111209657(+) CCATGA/GGTCTT 1 -- int10--------

    HapMap Linkage Disequilibrium report for KCNA2 (111136202 - 111174096 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for KCNA2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv520458CNV Loss19592680
    nsv522839CNV Gain19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KCNA2
    DNA2.0 Custom Variant and Variant Library Synthesis for KCNA2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 176262    OMIM disorders: --

    1 disease for KCNA2:    
    About MalaCards
    benign neonatal seizures

    2 diseases from the University of Copenhagen DISEASES database for KCNA2:
    Benign neonatal seizures     Episodic ataxia

    Find genes that share disorders with KCNA2           About GenesLikeMe

    4 Novoseek inferred disease relationships for KCNA2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    shock 34.2 11 19166925 (1), 20128681 (1), 16840785 (1), 11844797 (1) (see all 8)
    inflammation 11.7 5 17576778 (2), 17449059 (1), 19850376 (1), 19691016 (1)
    necrosis 10.6 6 11741878 (2), 18562219 (1), 20237073 (1), 16774924 (1) (see all 5)
    tumors 0 6 11741878 (2), 19937655 (1), 20237073 (1), 12582162 (1) (see all 5)


    Export disorders for KCNA2 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 KCNA2 gene, integrated from 10 sources (see all 154):
    (articles sorted by number of sources associating them with KCNA2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Cell type-specific inhibition of the ETS transcription factor ER81 by mitogen-activated protein kinase-activated protein kinase 2. (PubMed id 11551945)1, 9 Janknecht R. (J. Biol. Chem. 2001)
    3. MK2 controls the level of negative feedback in the NF-kappaB pathway and is essential for vascular permeability and airway inflammation. (PubMed id 17576778)1, 9 Gorska M.M....Alam R. (J. Exp. Med. 2007)
    4. Distinct modulation of Kv1.2 channel gating by wild type, but not open form, of syntaxin-1A. (PubMed id 17234891)1, 9 Neshatian L....Diamant N.E. (Am. J. Physiol. Gastrointest. Liver Physiol. 2007)
    5. Expression and chromosomal localization of a lymphocyte K+ channel gene. (PubMed id 2251283)1, 9 Grissmer S....Chandy K.G. (Proc. Natl. Acad. Sci. U.S.A. 1990)
    6. Chromosomal mapping in the mouse of eight K(+)-channel genes representing the four Shaker-like subfamilies Shaker, Shab, Shaw, and Shal. (PubMed id 7905852)1, 9 Klocke R....Jockusch H. (Genomics 1993)
    7. Altered distribution of juxtaparanodal kv1.2 subunits mediates peripheral nerve hyperexcitability in type 2 diabetes mellitus. (PubMed id 22649228)1 Zenker J....Chrast R. (J. Neurosci. 2012)
    8. Markedly reduced axonal potassium channel expression in human sporadic amyotrophic lateral sclerosis: an immunohistochemical study. (PubMed id 21906595)1 Shibuya K....Kuwabara S. (Exp. Neurol. 2011)
    9. Control of ionic selectivity by a pore helix residue in the Kv1.2 channel. (PubMed id 20842544)1 Chao C.C....Leung Y.M. (J Physiol Sci 2010)
    10. Effect of sensor domain mutations on the properties of voltage-gated ion channels: molecular dynamics studies of the potassium channel Kv1.2. (PubMed id 21044565)1 Delemotte L....Tarek M. (Biophys. J. 2010)

    (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: 3737 HGNC: 6220 AceView: KCNA2 Ensembl:ENSG00000177301 euGenes: HUgn3737
    ECgene: KCNA2 H-InvDB: KCNA2

    (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 KCNA2 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 KCNA2 gene:
    Search GeneIP for patents involving KCNA2

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



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