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

KCNA5 Gene

protein-coding   GIFtS: 64
GCID: GC12P005153

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

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Potassium Voltage-Gated Channel, Shaker-Related Subfamily, Member 51 2     KV1.52
Voltage-Gated Potassium Channel HK22 3     PCN12
Voltage-Gated Potassium Channel Subunit Kv1.52 3     Cardiac Potassium Channel2
HPCN12 3     Insulinoma And Islet Potassium Channel2
ATFB72 5     Potassium Channel 12
HCK12     Potassium Voltage-Gated Channel Subfamily A Member 52
HK22     Voltage-Gated Potassium Channel Protein Kv1.52

External Ids:    HGNC: 62241   Entrez Gene: 37412   Ensembl: ENSG000001300377   OMIM: 1762675   UniProtKB: P224603   

Export aliases for KCNA5 gene to outside databases

Previous GC identifers: GC12P004890 GC12P005045 GC12P005023


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

Entrez Gene summary for KCNA5 Gene:
Potassium channels represent the most complex class of voltage-gated ino 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, the function of which could
restore the resting membrane potential of beta cells after depolarization and thereby contribute to the
regulation of insulin secretion. This gene is intronless, and the gene is clustered with genes KCNA1 and KCNA6 on
chromosome 12. Defects in this gene are a cause of familial atrial fibrillation type 7 (ATFB7). (provided by
RefSeq, May 2012)

GeneCards Summary for KCNA5 Gene: 
KCNA5 (potassium voltage-gated channel, shaker-related subfamily, member 5) is a protein-coding gene. Diseases associated with KCNA5 include familial atrial fibrillation, and kcna5-related familial atrial fibrillation, and among its related super-pathways are Potassium Channels and Transmission across Chemical Synapses. GO annotations related to this gene include delayed rectifier potassium channel activity and receptor binding. An important paralog of this gene is KCNA6.

UniProtKB/Swiss-Prot: KCNA5_HUMAN, P22460
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. This channel displays rapid activation and slow inactivation. May play a role in regulating the
secretion of insulin in normal pancreatic islets. Isoform 2 exhibits a voltage-dependent recovery from
inactivation and an excessive cumulative inactivation

summary for KCNA5 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 KCNA5 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.2  NT_009759.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KCNA5 gene promoter:
         GR   Pax-5   GR-beta   AP-2gamma   Nkx6-1   AP-2beta   GR-alpha   AP-2alpha   LyF-1   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKCNA5 promoter sequence
   Search SABiosciences Chromatin IP Primers for KCNA5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KCNA5


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

Entrez Gene cytogenetic band: 12p13   Ensembl cytogenetic band:  12p13.32   HGNC cytogenetic band: 12p13

KCNA5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KCNA5 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P005153:  view genomic region     (about GC identifiers)

Start:
5,153,085 bp from pter      End:
5,155,949 bp from pter
Size:
2,865 bases      Orientation:
plus strand

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

UniProtKB/Swiss-Prot: KCNA5_HUMAN, P22460 (See protein sequence)
Recommended Name: Potassium voltage-gated channel subfamily A member 5  
Size: 613 amino acids; 67228 Da
Subunit: Heterotetramer of potassium channel proteins. Interacts with DLG1, which enhances channel currents. Forms
a ternary complex with DLG1 and CAV3 (By similarity). Interacts with UBE2I
Subcellular location: Membrane; Multi-pass membrane protein
Sequence caution: Sequence=AAA60146.1; Type=Frameshift; Positions=579;
Secondary accessions: Q4KKT8 Q4VAJ1 Q4VAJ2 Q9UDA4
Alternative splicing: 2 isoforms:  P22460-1   P22460-2   

Explore the universe of human proteins at neXtProt for KCNA5: NX_P22460

Explore proteomics data for KCNA5 at MOPED 

Post-translational modifications:

  • UniProtKB: Sumoylated on Lys-221, and Lys-536, preferentially with SUMO3. Sumoylation regulates the voltage sensitivity of
    the channel
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P22460

  • KCNA5 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KCNA5 Protein Expression
    REFSEQ proteins: NP_002225.2  
    ENSEMBL proteins: 
     ENSP00000252321  
    Reactome Protein details: P22460
    Human Recombinant Protein Products for KCNA5: 
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    Cloud-Clone Corp. Proteins for KCNA5 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005794Golgi apparatus IDA16780588
    GO:0005886plasma membrane TAS--
    GO:0005901colocalizes with caveola TAS17060380
    GO:0008076voltage-gated potassium channel complex IDA1986382
    GO:0014704intercalated disc IDA7615797

    KCNA5 for ontologies           About GeneDecksing



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

    IUPHAR Guide to PHARMACOLOGY protein family classification: Kv1.5 
    Voltage-gated potassium channels

    5/9 InterPro protein domains (see all 9):
     IPR005821 Ion_trans_dom
     IPR000210 BTB/POZ-like
     IPR011333 BTB/POZ_fold
     IPR003972 K_chnl_volt-dep_Kv1
     IPR027359 K_channel_four-helix_dom

    Graphical View of Domain Structure for InterPro Entry P22460

    ProtoNet protein and cluster: P22460

    4 Blocks protein domains:
    IPB000210 BTB/POZ domain
    IPB003091 Potassium channel signature
    IPB003972 Skaker voltage-gated K+ channel family signature
    IPB004052 Kv1.5 voltage-gated K+ channel signature


    UniProtKB/Swiss-Prot: KCNA5_HUMAN, P22460
    Domain: The amino terminus may be important in determining the rate of inactivation of the channel while the
    C-terminal PDZ-binding motif 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. Kv1.5/KCNA5 sub-subfamily


    KCNA5 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KCNA5_HUMAN, P22460
    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. This channel displays rapid activation and slow inactivation. May play a role in regulating the
    secretion of insulin in normal pancreatic islets. Isoform 2 exhibits a voltage-dependent recovery from
    inactivation and an excessive cumulative inactivation

         Genatlas biochemistry entry for KCNA5:
    potassium voltage-gated channel,Drosophila shaker-related subfamily,member 5 (mouse Kv1.5 homolog)

         Gene Ontology (GO): 5/11 molecular function terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005102receptor binding IEA--
    GO:0005216ion channel activity ----
    GO:0005249voltage-gated potassium channel activity ----
    GO:0005251delayed rectifier potassium channel activity IMP19343045
    GO:0005515protein binding ----
         
    KCNA5 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for KCNA5:
     Increased cell death HMECs cel  Synthetic lethal with Ras 

         7 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Kcna5):
     cardiovascular system  cellular  hematopoietic system  homeostasis/metabolism  immune system 
     muscle  nervous system 

    KCNA5 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Kcna5tm1Hket for KCNA5

       inGenious Targeting Laboratory - Custom generated mouse model solutions for KCNA5 
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    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for KCNA5 About                                                                                                See pathways by source

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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for KCNA5
        Potassium transporters- outward current

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for KCNA5
        Dopamine-DARPP32 Feedback onto cAMP Pathway

    3        Reactome Pathways for KCNA5
        Potassium Channels
    Neuronal System
    Voltage gated Potassium channels

    1 PharmGKB Pathway for KCNA5
        Antiarrhythmic Pathway, Pharmacodynamics


    KCNA5 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for KCNA5

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

    5/52 Interacting proteins for KCNA5 (P224602, 3 ENSP000002523214) via UniProtKB, MINT, STRING, and/or I2D (see all 52)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACTN2P356092, 3, ENSP000003555374MINT-17650 MINT-17651 I2D: score=3 STRING: ENSP00000355537
    DLG1Q129593, ENSP000003457314I2D: score=2 STRING: ENSP00000345731
    KCNA2P163893, ENSP000003145204I2D: score=2 STRING: ENSP00000314520
    PTPREP234693, ENSP000002546674I2D: score=2 STRING: ENSP00000254667
    SRCP129313, ENSP000003509414I2D: score=2 STRING: ENSP00000350941
    About this table

    Gene Ontology (GO): 5/19 biological process terms (GO ID links to tree view) (see all 19):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001666response to hypoxia IEA--
    GO:0006811ion transport ----
    GO:0006813potassium ion transport IDA8576199
    GO:0007268synaptic transmission TAS--
    GO:0019229regulation of vasoconstriction IEA--

    KCNA5 for ontologies           About GeneDecksing



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

    KCNA5 for compounds           About GeneDecksing

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

    Compounds for KCNA5 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]

    8 IUPHAR Ligands for KCNA5 (Kv1.5)    About this table 
    LigandTypeActionAffinityPubmed IDs
    clofilium
    Pore BlockerNone6.97838129
    S9947
    Pore BlockerNone6.412382079 11692231
    propafenone
    Pore BlockerNone5.416382104
    bupivacaine
    Pore BlockerNone5.49400387
    quinidine
    Pore BlockerNone5.21538710
    resiniferatoxin
    Pore BlockerNone4.67517498
    nifedipine
    Pore BlockerNone4.17517498
    flecainide
    Pore BlockerNone47517498

    9 Novoseek inferred chemical compound relationships for KCNA5 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dichloroacetate 73.8 1 17085423 (1)
    4-aminopyridine 70.8 5 17267549 (1), 15140747 (1), 11950153 (1)
    potassium 67.9 16 15541182 (2), 7587392 (1), 9694927 (1), 12208779 (1) (see all 14)
    terfenadine 60.9 5 8772706 (3), 11575008 (1)
    benzocaine 60.3 2 12237171 (1), 10533586 (1)
    bupivacaine 37.3 1 8527655 (1)
    calcium 20.7 3 15353504 (1), 17085423 (1)
    oxygen 3.64 2 16735674 (1), 8524851 (1)
    h2o2 0 1 16735674 (1)

    Search CenterWatch for drugs/clinical trials and news about KCNA5

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    About This Section

    REFSEQ mRNAs for KCNA5 gene: 
    NM_002234.3  

    Unigene Cluster for KCNA5:

    Potassium voltage-gated channel, shaker-related subfamily, member 5
    Hs.150208  [show with all ESTs]
    Unigene Representative Sequence: NM_002234
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000252321(uc001qni.3)
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    Additional mRNA sequence: 

    BC096357.3 BC096358.3 BC099665.3 BC099666.3 M55513.1 M60451.1 M83254.1 

    1 DOTS entry:

    DT.87015787 

    24/25 AceView cDNA sequences (see all 25):

    BQ417402 BM692565 BQ189575 NM_002234 BM663787 AA975384 BV205997 BM893755 
    CK823380 M83254 CK823379 AW074733 M60451 AI377563 BX280957 BI764377 
    BQ287945 BV205996 BE350646 AA218863 M55513 BM967038 AW242568 AA220960 

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

    KCNA5 expression in normal human tissues (normalized intensities)      KCNA5 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    KCNA5 Expression
    About this image


    KCNA5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/13 selected tissues (see all 13) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Adult Dopaminergic Neurons Ventral Tegmental Area
             Medulla Oblongata
             nerve/cranial/trigeminal V   
     
     Eye (Sensory Organs)    fully expand to see all 4 entries
             Mature Rod Bipolar Cells Inner Nuclear Layer
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Diencephalic Roof Plate
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 2 entries
             Midgut
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             heart/ventricle   

    See KCNA5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KCNA5

    SOURCE GeneReport for Unigene cluster: Hs.150208

    UniProtKB/Swiss-Prot: KCNA5_HUMAN, P22460
    Tissue specificity: Pancreatic islets and insulinoma

        SABiosciences Expression via Pathway-Focused PCR Arrays including KCNA5: 
              cAMP / Ca2+ Signaling PathwayFinder in human mouse rat
              Neuronal Ion Channels in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for KCNA5 gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kcna51 , 5 potassium voltage-gated channel, shaker-related subfamily, more1, 5 84.61(n)1
    88.5(a)1
      6 (61.35 cM)5
    164931  NM_145983.21  NP_666095.11 
     1265325515 
    chicken
    (Gallus gallus)
    Aves KCNA51 potassium voltage-gated channel, shaker-related subfamily, more 75.88(n)
    80.46(a)
      395115  XM_417226.3  XP_417226.2 
    lizard
    (Anolis carolinensis)
    Reptilia KCNA56
    Uncharacterized protein
    70(a)
    1 ↔ 1
    5(80751125-80752846)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1000041601 potassium voltage-gated channel subfamily A member more 73.1(n)
    78.51(a)
      100004160  XM_002661837.1  XP_002661883.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Sh3 courtship behavior voltage-gated
    potassium channel
    69(a)     --


    ENSEMBL Gene Tree for KCNA5 (if available)
    TreeFam Gene Tree for KCNA5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KCNA5 gene
    KCNA62  KCNC22  KCNA22  KCNC42  KCND22  KCND12  KCNA72  KCNA12  
    KCNC12  KCNA42  KCNC32  KCNA32  KCND32  KCNA102  
    12 SIMAP similar genes for KCNA5 using alignment to 1 protein entry:     KCNA5_HUMAN:
    KCNA2    KCNA10    KCNA7    KCNA1    KCNA6    KCNA3
    KCNA4    KCND3    KCNB1    KCNB2    KCND2    KCND1

    KCNA5 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/196 SNPs in KCNA5 are shown (see all 196)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0357704
    A breast cancer sample4--see VAR_0357702 G S mis40--------
    rs1219085911,2
    Cpathogenic15085922(+) GGAAAC/TGGATC 2 T M mis10--------
    rs22395071,2
    C,F,O,A,H--5082163(+) TGTCTG/TCAAGC 1 -- us2k130Minor allele frequency- T:0.48EA NA NS WA CSA 5082
    rs1502226651,2
    --5082350(+) CCCTTC/TCTCAC 1 -- us2k10--------
    rs1810160951,2
    --5082364(+) TGCACA/GTCTGC 1 -- us2k10--------
    rs1457453611,2
    --5082465(+) AGCCAG/TATGCA 1 -- us2k10--------
    rs1489501141,2
    --5082546(+) CCAGGA/GCCAAG 1 -- us2k10--------
    rs1445765821,2
    C--5082672(+) AAACA-/AAA   
       AAACC
    CAGCC
    1 -- us2k10--------
    rs1458344851,2
    --5082889(+) ACTAAA/GGTTCT 1 -- us2k10--------
    rs1384066581,2
    --5082934(+) CAGGAA/GAAGGG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for KCNA5 (5153085 - 5155949 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for KCNA5:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv517406CNV Loss19592680
    nsv898626CNV Loss21882294


    Human Gene Mutation Database (HGMD): KCNA5
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 176267   
    OMIM disorders: 612240  
    UniProtKB/Swiss-Prot: KCNA5_HUMAN, P22460
  • Familial atrial fibrillation 7 (ATFB7) [MIM:612240]: A familial form of atrial fibrillation, a common
    sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical
    activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling.
    It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 20/21 diseases for KCNA5 (see all 21):    About MalaCards
    familial atrial fibrillation    kcna5-related familial atrial fibrillation    familial dyskinesia and facial myokymia    myokymia
    insulinoma    hepatopulmonary syndrome    patent ductus arteriosus    long qt syndrome
    syncope    myocarditis    congestive heart failure    hypoxia
    hypertension    thromboembolism    liver disease    cerebritis
    gastric cancer    neuronitis    lung cancer    sarcoma

    2 diseases from the University of Copenhagen DISEASES database for KCNA5:
    Long QT syndrome     Hypertension

    KCNA5 for disorders           About GeneDecksing

    6 Novoseek inferred disease relationships for KCNA5 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hypertension arterial 60.5 5 17267549 (1), 15140747 (1), 11950153 (1), 20018952 (1)
    atrial fibrillation 16.5 1 15807513 (1)
    arrhythmia 10.8 2 17266934 (1)
    metastasis 0 1 11212253 (1)
    tumors 0 1 15541182 (1)
    cancer 0 1 15541182 (1)

    Genetic Association Database (GAD): KCNA5
    Human Genome Epidemiology (HuGE) Navigator: KCNA5 (8 documents)

    Export disorders for KCNA5 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for KCNA5 gene, integrated from 9 sources (see all 140):
    (articles sorted by number of sources associating them with KCNA5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Sequence and functional expression in Xenopus oocytes of a human insulinoma and islet potassium channel. (PubMed id 1986382)1, 2, 9 Philipson L.H.... Steiner D.F. (1991)
    2. A specific N-terminal residue in Kv1.5 is required for upregulation of the channel by SAP97. (PubMed id 16466689)1, 2, 9 Mathur R....Fedida D. (2006)
    3. [Identification and functional analysis of a KCNA5 mu tation responsible for idiopathic atrial fibrillation]. (PubMed id 20646426)1, 4 Yang Y.Q....Chen Y.H. (2010)
    4. Genetic Risk Factors for Hepatopulmonary Syndrome in Patients With Advanced Liver Disease. (PubMed id 20346360)1, 4 Roberts K.E....Fallon M.B. (2010)
    5. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    6. Association of a KCNA5 gene polymorphism with systemi c sclerosis-associated pulmonary arterial hypertension in the European Caucasia n population. (PubMed id 20556823)1, 4 Wipff J....Allanore Y. (2010)
    7. Novel KCNA5 loss-of-function mutations responsible for atrial fibrillation. (PubMed id 19343045)1, 4 Yang Y....Chen Y.H. (2009)
    8. A pilot study to estimate the feasibility of assessing the relationships between polymorphisms in hKv1.5 and atrial fibrillation in patients following coronary artery bypass graft surgery. (PubMed id 18209767)1, 4 Plante I....Daleau P. (2008)
    9. SUMO modification regulates inactivation of the voltage-gated potassium channel Kv1.5. (PubMed id 17261810)1, 2 Benson M.D.... Martens J.R. (2007)
    10. International Union of Pharmacology. LIII. Nomenclatu re and molecular relationships of voltage-gated potassium channels. (PubMed id 16382104)1, 3 Gutman G.A....Wang X. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 3741 HGNC: 6224 AceView: KCNA5 Ensembl:ENSG00000130037 euGenes: HUgn3741
    ECgene: KCNA5 H-InvDB: KCNA5

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for KCNA5 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for KCNA5 gene:
    Search GeneIP for patents involving KCNA5

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



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    About This Section

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