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KCND2 Gene

protein-coding   GIFtS: 64
GCID: GC07P119913

Potassium Voltage-Gated Channel, Shal-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)
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Aliases
Potassium Voltage-Gated Channel, Shal-Related Subfamily, Member 21 2     RK52
Voltage-Gated Potassium Channel Subunit Kv4.22 3     Potassium Voltage-Gated Channel Subfamily D Member 22
KIAA10443 5     Voltage-Gated Potassium Channel Kv4.22
KV4.22     Voltage-Sensitive Potassium Channel2

External Ids:    HGNC: 62381   Entrez Gene: 37512   Ensembl: ENSG000001844087   OMIM: 6054105   UniProtKB: Q9NZV83   

Export aliases for KCND2 gene to outside databases

Previous GC identifers: GC07P118391 GC07P119454 GC07P119468 GC07P119507 GC07P119700 GC07P114276


(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 KCND2 Gene:
Voltage-gated potassium (Kv) 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, shal-related subfamily, members of which form voltage-activated A-type potassium ion
channels and are prominent in the repolarization phase of the action potential. This member mediates a rapidly
inactivating, A-type outward potassium current which is not under the control of the N terminus as it is in
Shaker channels. (provided by RefSeq, Jul 2008)

GeneCards Summary for KCND2 Gene:
KCND2 (potassium voltage-gated channel, Shal-related subfamily, member 2) is a protein-coding gene. Diseases associated with KCND2 include long qt syndrome, and smallpox. GO annotations related to this gene include A-type (transient outward) potassium channel activity and voltage-gated potassium channel activity. An important paralog of this gene is KCNA6.

UniProtKB/Swiss-Prot: KCND2_HUMAN, Q9NZV8
Function: Pore-forming (alpha) subunit of voltage-gated rapidly inactivating A-type potassium channels. May
contribute to I(To) current in heart and I(Sa) current in neurons. Channel properties are modulated by
interactions with other alpha subunits and with regulatory subunits

summary for KCND2 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 KCND2 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_000007.14  NT_007933.16  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the KCND2 gene promoter:
         AhR   CREB   AP-1   deltaCREB   Hand1   E47   Arnt   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): KCND2 promoter sequence
   Search Chromatin IP Primers for KCND2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KCND2


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

Entrez Gene cytogenetic band: 7q31   Ensembl cytogenetic band:  7q31.31   HGNC cytogenetic band: 7q31

KCND2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KCND2 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P119913:  view genomic region     (about GC identifiers)

Start:
119,913,722 bp from pter      End:
120,390,387 bp from pter
Size:
476,666 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 119,308,832-119,785,474     

(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: KCND2_HUMAN, Q9NZV8 (See protein sequence)
Recommended Name: Potassium voltage-gated channel subfamily D member 2  
Size: 630 amino acids; 70537 Da
Subunit: Homotetramer or heterotetramer with KCND1 and/or KCND3. Interacts with DPP6, DLG4 and NCS1/FREQ (By
similarity). Interacts with DLG1. Associates with the regulatory subunits KCNIP1, KCNIP2, KCNIP3 and KCNIP4.
Probably part of a complex consisting of KCNIP1, KCNIP2 isoform 3 and KCND2. The KCND2-KCNIP2 channel complex
contains four KCND2 and four KCNIP2 subunits. Interacts with FLNA, FLNC and DPP10
Sequence caution: Sequence=BAA82996.2; Type=Erroneous initiation;
Secondary accessions: O95012 O95021 Q2TBD3 Q9UBY7 Q9UN98 Q9UNH9

Explore the universe of human proteins at neXtProt for KCND2: NX_Q9NZV8

Explore proteomics data for KCND2 at MOPED

Post-translational modifications: 

  • Phosphorylated on serine and threonine residues (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See KCND2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_036413.1  
    ENSEMBL proteins: 
     ENSP00000333496   ENSP00000415463  
    Reactome Protein details: Q9NZV8

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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: Kv4.2
    Voltage-gated potassium channels

    Selected InterPro protein domains (see all 12):
     IPR005821 Ion_trans_dom
     IPR024587 K_chnl_volt-dep_Kv4_C
     IPR000210 BTB/POZ-like
     IPR011333 BTB/POZ_fold
     IPR027359 Channel_four-helix_dom

    Graphical View of Domain Structure for InterPro Entry Q9NZV8

    ProtoNet protein and cluster: Q9NZV8

    4 Blocks protein domains:
    IPB000210 BTB/POZ domain
    IPB003091 Potassium channel signature
    IPB003975 Shal voltage-gated K+ channel family signature
    IPB004055 Kv4.2 voltage-gated K+ channel signature


    UniProtKB/Swiss-Prot: KCND2_HUMAN, Q9NZV8
    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. D (Shal) (TC 1.A.1.2) subfamily. Kv4.2/KCND2 sub-subfamily


    KCND2 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: KCND2_HUMAN, Q9NZV8
    Function: Pore-forming (alpha) subunit of voltage-gated rapidly inactivating A-type potassium channels. May
    contribute to I(To) current in heart and I(Sa) current in neurons. Channel properties are modulated by
    interactions with other alpha subunits and with regulatory subunits

         Genatlas biochemistry entry for KCND2:
    potassium voltage-gated channel,Shal-related family member 2,expressed in brain but not in heart,mediating a
    rapidly-inactivating transient voltage-sensitive K+,current,rat Kv4.2 homolog

         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 NAS11102480
    GO:0005250A-type (transient outward) potassium channel activity IBA--
    GO:0005251NOT delayed rectifier potassium channel activity IBA--
    GO:0005515protein binding IPI11287421
         
    KCND2 for ontologies           About GeneDecksing


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Kcnd2):
     behavior/neurological  integument  nervous system 

    KCND2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Kcnd2tm1Jmn for KCND2

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    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate KCND2 (see all 33):
    hsa-miR-4307 hsa-miR-19b-2* hsa-miR-25 hsa-miR-3653 hsa-miR-519a hsa-miR-218 hsa-miR-186 hsa-miR-3148
    SwitchGear 3'UTR luciferase reporter plasmidKCND2 3' UTR sequence
    Inhib. RNA
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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
    KCND2_HUMAN, Q9NZV8: Cell membrane; Multi-pass membrane protein. Cell projection, dendrite. Note=Detected in
    dendrites in cultured hippocampal neurons. Association with KCNIP2 probably enhances cell surface expression
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    endoplasmic reticulum1
    lysosome1

    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:0043197dendritic spine NAS11102480

    KCND2 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 KCND2 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
    3Circadian entrainment
    Serotonergic synapse0.33
    4Synaptic transmission ion currents
    Synaptic transmission ion currents
    5Dopamine-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 KCND2
        Dopamine-DARPP32 Feedback onto cAMP Pathway

    1 Reactome Pathway for KCND2
        Voltage gated Potassium channels


    1 Kegg Pathway  (Kegg details for KCND2):
        Serotonergic synapse


    KCND2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including KCND2: 
              Neuronal Ion Channels in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for KCND2

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

    Selected Interacting proteins for KCND2 (Q9NZV81, 3 ENSP000003334964) via UniProtKB, MINT, STRING, and/or I2D (see all 57)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KCNIP1Q9NZI21, 3, ENSP000003953234EBI-1646745,EBI-2120635 I2D: score=4 STRING: ENSP00000395323
    IL16Q140053, ENSP000003029354I2D: score=3 STRING: ENSP00000302935
    KCNIP2Q9NS613, ENSP000004200404I2D: score=3 STRING: ENSP00000420040
    FLNCQ143153, ENSP000003271454I2D: score=2 STRING: ENSP00000327145
    NCS1P621663, ENSP000003614754I2D: score=2 STRING: ENSP00000361475
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001508action potential TAS11102480
    GO:0006811ion transport ----
    GO:0007268synaptic transmission TAS11102480
    GO:0051260protein homooligomerization IEA--
    GO:0055085transmembrane transport ----

    KCND2 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 KCND2 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 KCND2    About this table
    CompoundSynonyms CAS #PubMed Ids
    PotassiumK+ (see all 16)7440-09-7--

    4 DrugBank Compounds for KCND2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    AmitriptylineAmitriprolidine (see all 5)50-48-6targetinhibitor9781919
    Dalfampridine 4-Aminopyridine (see all 5)504-24-5targetantagonist23184313
    DisopyramideDisopiramida [INN-Spanish] (see all 4)3737-09-5targetinhibitor9781919
    Imipramine-- 50-49-7targetinhibitor9781919

    2 Novoseek inferred chemical compound relationships for KCND2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    potassium 60.1 9 16412265 (1), 15563876 (1), 19453640 (1), 10935529 (1) (see all 8)
    flecainide 53.5 2 9093524 (2)



    KCND2 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for KCND2 gene: 
    NM_012281.2  

    Unigene Cluster for KCND2:

    Potassium voltage-gated channel, Shal-related subfamily, member 2
    Hs.654739  [show with all ESTs]
    Unigene Representative Sequence: AB028967
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000331113(uc003vjj.1) ENST00000425288 ENST00000473190
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    Additional mRNA sequence: 

    AB028967.1 AF121104.1 AJ010969.1 AK307139.1 BC110449.1 BC110450.1 

    1 DOTS entry:

    DT.437263 

    13 AceView cDNA sequences:

    AB028967 NM_012281 AJ010969 CD654252 BF792906 C15176 D54065 BG205115 
    AF121104 C15006 BG194345 BG196870 M85950 

    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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    KCND2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTTGAACAGG
    KCND2 Expression
    About this image


    KCND2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 12) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 4 entries
             Metencephalon
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Medulla Oblongata
             Oligodendrocyte-like cells
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Human embryonic stem cells (family)
     
     Oligodendrocytes (Nervous System)    fully expand to see all 2 entries
             Oligodendrocyte-like cells
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Oligodendrocyte-like cells
    KCND2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KCND2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.654739

    UniProtKB/Swiss-Prot: KCND2_HUMAN, Q9NZV8
    Tissue specificity: Highly expressed throughout the brain. Expression is very low or absent in other tissues

        Pathway & Disease-focused RT2 Profiler PCR Array including KCND2: 
              Neuronal Ion Channels in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCND2

    (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 KCND2 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kcnd21 , 5 potassium voltage-gated channel, Shal-related family, more1, 5 88.89(n)1
    99.05(a)1
      6 (8.49 cM)5
    165081  NM_019697.31  NP_062671.11 
     212155035 
    chicken
    (Gallus gallus)
    Aves KCND21 potassium voltage-gated channel, Shal-related subfamily, more 82.59(n)
    93.81(a)
      374143  NM_204279.1  NP_989610.1 
    lizard
    (Anolis carolinensis)
    Reptilia KCND26
    potassium voltage-gated channel, Shal-related subf...
    92(a)
    1 ↔ 1
    5(62965506-62966621)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia kcnd21 potassium voltage-gated channel, Shal-related subfamily, more 74.08(n)
    84.8(a)
      100486527  XM_002934959.2  XP_002935005.1 
    zebrafish
    (Danio rerio)
    Actinopterygii kcnd21 potassium voltage-gated channel, Shal-related subfamily, more 71.51(n)
    81.31(a)
      570188  NM_001082867.2  NP_001076336.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Shal1 , 3 potassium ion transport voltage-gated
    potassium more3
    Shaker cognate l1
    72(a)3
    64.03(n)1
    69.62(a)1
      76B73
    401291  NM_001104176.21  NP_001097646.11 
    worm
    (Caenorhabditis elegans)
    Secernentea Y73B6BL.193
    shl-11
    shl-11 64(a)3
    60.15(n)1
    67.01(a)1
      IV(6378470-6384170)3
    1774001  NM_068574.31  NP_500975.21 


    ENSEMBL Gene Tree for KCND2 (if available)
    TreeFam Gene Tree for KCND2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KCND2 gene
    KCNA62  KCNC22  KCNA22  KCNC42  KCND12  KCNA72  KCNA52  KCNA12  
    KCNC12  KCNA42  KCNC32  KCNA32  KCND32  KCNA102  
    18 SIMAP similar genes for KCND2 using alignment to 4 protein entries:     KCND2_HUMAN (see all proteins):
    KCND3    KCND1    KCNB1    KCNA1    KCNS3    KCNA10
    KCNA5    KCNB2    KCNF1    KCNA3    KCNG1    KCNA7
    KCNA2    KCNC1    KCNV1    KCNA6    KCNG4    KCNS1

    KCND2 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 KCND2 (see all 8206)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs595376131,2
    C--119350959(+) TGTGT-/GT/GTG
    TGTGTGTGT
    AATAT
    1 -- int12NA 4
    rs1403660861,2
    --119911752(+) AAACTG/TAAATG 1 -- us2k10--------
    rs38414491,2
    C--119911824(-) TGTTT-/GTTT  
            
    ATTTG
    1 -- us2k1 tfbs30--------
    rs1835193501,2
    --119911959(+) TTTTCA/TAGGTT 1 -- us2k10--------
    rs1454274281,2
    --119912264(+) TAGTAC/TATGTC 1 -- us2k10--------
    rs1128944861,2
    C,F--119912398(+) GATTTG/AACTTC 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs1166401001,2
    C,F--119912440(+) TGTTAC/AGTTTG 1 -- us2k11Minor allele frequency- A:0.03WA 118
    rs770930461,2
    C,F--119912671(+) CTCCAC/TATCCC 1 -- us2k11Minor allele frequency- T:0.26WA 118
    rs1891754561,2
    --119912678(+) TCCCTC/GTTATT 1 -- us2k10--------
    rs1410752251,2
    --119912711(+) TGTGTC/GAAGAC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for KCND2 (119913722 - 120163722 bp, first 250kb of KCND2)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for KCND2 (see all 19):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2660098CNV Deletion23128226
    esv2663514CNV Deletion23128226
    esv2672567CNV Deletion23128226
    esv2671021CNV Deletion23128226
    esv2666660CNV Deletion23128226
    dgv1237e199CNV Deletion23128226
    esv2735077CNV Deletion23290073
    nsv5928CNV Insertion18451855
    esv268561CNV Insertion20981092
    esv271739CNV Insertion20981092

    Human Gene Mutation Database (HGMD): KCND2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KCND2
    DNA2.0 Custom Variant and Variant Library Synthesis for KCND2

    (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.)
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    OMIM gene information: 605410    OMIM disorders: --

    9 diseases for KCND2:    
    About MalaCards
    long qt syndrome    smallpox    temporal lobe epilepsy    encephalitis
    myocardial infarction    neuronitis    retinitis    endotheliitis
    malaria

    1 disease from the University of Copenhagen DISEASES database for KCND2:
    Long QT syndrome

    KCND2 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for KCND2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    long qt syndrome 44.4 5 15563876 (2), 10942109 (1)
    arrhythmia 37.4 2 10942109 (1), 18855674 (1)

    Genetic Association Database (GAD): KCND2
    Human Genome Epidemiology (HuGE) Navigator: KCND2 (6 documents)

    Export disorders for KCND2 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 KCND2 gene, integrated from 10 sources (see all 81):
    (articles sorted by number of sources associating them with KCND2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of human Kv4.2 mediating a rapidly-inactivating transient voltage-sensitive K+ current. (PubMed id 10551270)1, 2, 3, 9 Zhu X.-R.... Pongs O. (Recept. Channels 1999)
    2. Mutations in the genes KCND2 and KCND3 encoding the ion channels Kv4.2 and Kv4.3, conducting the cardiac fast transient outward current (ITO,f), are not a frequent cause of long QT syndrome. (PubMed id 15563876)1, 4, 9 Frank-Hansen R....Christiansen M. ( international journal of clinical chemistry 2005)
    3. Modulation of Kv4.2 channel expression and gating by dipeptidyl peptidase 10 (DPP10). (PubMed id 15454437)1, 2, 9 Jerng H.H.... Pfaffinger P.J. (Biophys. J. 2004)
    4. Ito channels are octameric complexes with four subunits of each Kv4.2 and K+ channel-interacting protein 2. (PubMed id 14623880)1, 2, 9 Kim L.A.... Goldstein S.A. (J. Biol. Chem. 2004)
    5. Gene structures and expression profiles of three human KCND (Kv4) potassium channels mediating A-type currents I(TO) and I(SA). (PubMed id 10729221)1, 2, 9 Isbrandt D.... Pongs O. (Genomics 2000)
    6. Genome-wide search for replicable risk gene regions in alcohol and nicotine co-dependence. (PubMed id 22488850)1, 4 Zuo L....Luo X. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2012)
    7. High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility. (PubMed id 19401682)1, 4 Maestrini E....Monaco A.P. (Mol. Psychiatry 2010)
    8. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    9. Association of regions on chromosomes 6 and 7 with blood pressure in Nigerian families. (PubMed id 20031566)1, 4 Tayo B.O....Cooper R.S. (Circ Cardiovasc Genet 2009)
    10. Kv4 potassium channels form a tripartite complex with the anchoring protein SAP97 and CaMKII in cardiac myocytes. (PubMed id 19213956)1, 2 El-Haou S.... Hatem S.N. (Circ. Res. 2009)

    (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: 3751 HGNC: 6238 AceView: KCND2 Ensembl:ENSG00000184408 euGenes: HUgn3751
    ECgene: KCND2 Kegg: 3751 H-InvDB: KCND2

    (According to HUGE)
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    HUGE: KIAA1044

    (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 KCND2 Pharmacogenomics, SNPs, Pathways

    (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 KCND2 gene:
    Search GeneIP for patents involving KCND2

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



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