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KCND3 Gene

protein-coding   GIFtS: 66
GCID: GC01M112313

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

(Previous names: spinocerebellar ataxia 22, spinocerebellar ataxia 19)
(Previous symbols: SCA22, SCA19)
  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 31 2     Spinocerebellar Ataxia 191
SCA191 2 5     KSHIVB2
SCA221 2 5     KV4.32
Spinocerebellar Ataxia 221 2     Potassium Ionic Channel Kv4.32
Voltage-Gated Potassium Channel Subunit Kv4.32 3     Potassium Voltage-Gated Channel Subfamily D Member 32
KCND3L2 5     Sha1-Related Potassium Channel Kv4.32
KCND3S2 5     Voltage-Gated K+ Channel2

External Ids:    HGNC: 62391   Entrez Gene: 37522   Ensembl: ENSG000001713857   OMIM: 6054115   UniProtKB: Q9UK173   

Export aliases for KCND3 gene to outside databases

Previous GC identifers: GC01M112734 GC01M111189 GC01M111420 GC01M111617 GC01M112030 GC01M112114 GC01M110189


(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 KCND3 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 includes two isoforms
with different sizes, which are encoded by alternatively spliced transcript variants of this gene. (provided by
RefSeq, Jul 2008)

GeneCards Summary for KCND3 Gene:
KCND3 (potassium voltage-gated channel, Shal-related subfamily, member 3) is a protein-coding gene. Diseases associated with KCND3 include spinocerebellar ataxia 19, and myokymia. GO annotations related to this gene include A-type (transient outward) potassium channel activity and ion channel binding. An important paralog of this gene is KCNA6.

UniProtKB/Swiss-Prot: KCND3_HUMAN, Q9UK17
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 KCND3 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 KCND3 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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Regulatory elements:
   Regulatory transcription factor binding sites in the KCND3 gene promoter:
         E2F-3a   E2F-4   Pax-5   E2F-2   CREB   E2F-1   E2F   deltaCREB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKCND3 promoter sequence
   Search Chromatin IP Primers for KCND3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KCND3


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

Entrez Gene cytogenetic band: 1p13.3   Ensembl cytogenetic band:  1p13.2   HGNC cytogenetic band: 1p13.2

KCND3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KCND3 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M112313:  view genomic region     (about GC identifiers)

Start:
112,313,284 bp from pter      End:
112,531,777 bp from pter
Size:
218,494 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: KCND3_HUMAN, Q9UK17 (See protein sequence)
Recommended Name: Potassium voltage-gated channel subfamily D member 3  
Size: 655 amino acids; 73451 Da
Subunit: Homotetramer or heterotetramer with KCND1 and/or KCND2. Associates with the regulatory subunits KCNIP1,
KCNIP2, KCNIP3 and KCNIP4 (By similarity). Interacts with KCNE1, KCNE2, SCN1B and KCNAB1 and DLG1
2 PDB 3D structures from and Proteopedia for KCND3:
1S1G (3D)        2NZ0 (3D)    
Secondary accessions: O60576 O60577 Q14D71 Q5T0M0 Q9UH85 Q9UH86 Q9UK16
Alternative splicing: 2 isoforms:  Q9UK17-1   Q9UK17-2   

Explore the universe of human proteins at neXtProt for KCND3: NX_Q9UK17

Explore proteomics data for KCND3 at MOPED

Post-translational modifications: 

  • Regulated through phosphorylation at Ser-569 by CaMK2D (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See KCND3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_004971.2  NP_751948.1  

    ENSEMBL proteins: 
     ENSP00000358711   ENSP00000319591   ENSP00000306923  
    Reactome Protein details: Q9UK17

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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: Kv4.3
    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
     IPR004056 K_chnl_volt-dep_Kv4.3
     IPR011333 BTB/POZ_fold

    Graphical View of Domain Structure for InterPro Entry Q9UK17

    ProtoNet protein and cluster: Q9UK17

    4 Blocks protein domains:
    IPB000210 BTB/POZ domain
    IPB003091 Potassium channel signature
    IPB003975 Shal voltage-gated K+ channel family signature
    IPB004056 Kv4.3 voltage-gated K+ channel signature


    UniProtKB/Swiss-Prot: KCND3_HUMAN, Q9UK17
    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. Kv4.3/KCND3 sub-subfamily


    KCND3 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: KCND3_HUMAN, Q9UK17
    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 KCND3:
    potassium voltage-gated channel,Shal-related family member 3,expressed in the cerebral cortex (mouse Kv8.1
    homolog),inhibiting expression of Shaw channels

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005216ion channel activity ----
    GO:0005249voltage-gated potassium channel activity ----
    GO:0005250contributes to A-type (transient outward) potassium channel activity IDA--
    GO:0005251NOT delayed rectifier potassium channel activity IBA--
    GO:0005267potassium channel activity ----
         
    KCND3 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for KCND3:
     Increased cell death HMECs cel 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Kcnd3):
     cardiovascular system 

    KCND3 for phenotypes           About GeneDecksing

    Animal Models:
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    hsa-mir-142-3p (MIRT021549), hsa-mir-449c-5p (MIRT035756), hsa-mir-16-5p (MIRT051143)

    Block miRNA regulation of human, mouse, rat KCND3 using miScript Target Protectors
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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
    KCND3_HUMAN, Q9UK17: Membrane; Multi-pass membrane protein. Cell membrane, sarcolemma (By similarity). Cell
    projection, dendrite (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    lysosome1
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane ----
    GO:0008076voltage-gated potassium channel complex IDA--
    GO:0016020membrane ----
    GO:0030425dendrite IEA--

    KCND3 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 KCND3 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
    4Antiarrhythmic Pathway, Pharmacodynamics
    Antiarrhythmic Pathway, Pharmacodynamics

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for KCND3
        Dopamine-DARPP32 Feedback onto cAMP Pathway

    1 Reactome Pathway for KCND3
        Voltage gated Potassium channels

    1 PharmGKB Pathway for KCND3
        Antiarrhythmic Pathway, Pharmacodynamics


    KCND3 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including KCND3: 
              Neuronal Ion Channels in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for KCND3

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

    Selected Interacting proteins for KCND3 (Q9UK173 ENSP000003195914) via UniProtKB, MINT, STRING, and/or I2D (see all 47)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IL16Q140053, ENSP000003029354I2D: score=1 STRING: ENSP00000302935
    KCNIP2Q9NS613, ENSP000004200404I2D: score=1 STRING: ENSP00000420040
    KCNIP1Q9NZI23, ENSP000003953234I2D: score=1 STRING: ENSP00000395323
    TANGO2Q6ICL33I2D: score=5 
    KCNA10ENSP000003587864STRING: ENSP00000358786
    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 TAS8734615
    GO:0007268synaptic transmission TAS--
    GO:0051260protein homooligomerization IEA--
    GO:0055085transmembrane transport ----

    KCND3 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
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      Browse compounds at ApexBio 

    Compounds for KCND3 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 KCND3    About this table
    CompoundSynonyms CAS #PubMed Ids
    PotassiumK+ (see all 16)7440-09-7--

    4 DrugBank Compounds for KCND3    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    AmitriptylineAmitriprolidine (see all 5)50-48-6targetinhibitor9781919
    Dalfampridine 4-Aminopyridine (see all 5)504-24-5targetantagonist16472864
    DisopyramideDisopiramida [INN-Spanish] (see all 4)3737-09-5targetinhibitor9781919
    Imipramine-- 50-49-7targetinhibitor9781919

    4 Novoseek inferred chemical compound relationships for KCND3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    potassium 64.2 10 10325966 (2), 9490854 (1), 8051145 (1), 15563876 (1) (see all 8)
    4-aminopyridine 50.2 4 10325966 (2), 8301258 (1)
    calcium 9.45 3 15743891 (1), 18045167 (1)
    lipid 0 2 1371017 (1), 7696252 (1)



    KCND3 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for KCND3 gene (2 alternative transcripts): 
    NM_004980.4  NM_172198.2  

    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000369697 ENST00000315987(uc001ebu.1) ENST00000302127(uc001ebv.1)

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    12 AceView cDNA sequences:

    NM_004980 BX096687 NM_172198 AF048713 AF048712 BI033106 AF187964 AF187963 
    AF120491 AF205856 AF205857 BQ340099 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for KCND3    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b
    SP1:                    -     -                                             
    SP2:                    -     -                       -                     
    SP3:                                                                        


    ECgene alternative splicing isoforms for KCND3

    (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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    KCND3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGGTGGGTG
    KCND3 Expression
    About this image


    KCND3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Amnion (Extraembryonic Tissues)
             Amniotic Epithelial Cells Amniotic Membrane
     
     Dermis (Integumentary System)
    KCND3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KCND3 Protein Expression

    UniProtKB/Swiss-Prot: KCND3_HUMAN, Q9UK17
    Tissue specificity: Highly expressed in heart and brain, in particular in cortex, cerebellum, amygdala and caudate
    nucleus. Detected at lower levels in liver, skeletal muscle, kidney and pancreas. Isoform 1 predominates in most
    tissues. Isoform 1 and isoform 2 are detected at similar levels in brain, skeletal muscle and pancreas

        Pathway & Disease-focused RT2 Profiler PCR Array including KCND3: 
              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 KCND3

    (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 KCND3 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kcnd31 , 5 potassium voltage-gated channel, Shal-related family, member 3 less1, 5 91.4(n)1
    99.39(a)1
      3 (46.32 cM)5
    565431  NM_019931.11  NP_064315.11 
     1054523305 
    chicken
    (Gallus gallus)
    Aves KCND31 potassium voltage-gated channel, Shal-related subfamily, member 3 less 82.65(n)
    94.96(a)
      374228  NM_204326.1  NP_989657.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    95(a)
    87(a)
    1 ↔ many
    1 ↔ many
    4(127134552-127135661)
    4(126771451-126900737)
    African clawed frog
    (Xenopus laevis)
    Amphibia kcnd3-A2 potassium voltage-gated channel, Shal-related subfamily, member 3 less 77.26(n)    U89265.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufi06g012 wufi06g01 80.01(n)   327415  BC045304.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Shal3 potassium ion transport voltage-gated
    potassium channel less
    73(a)   76B7   --
    worm
    (Caenorhabditis elegans)
    Secernentea Y73B6BL.193   -- 65(a)   IV(6378470-6384170)   --


    ENSEMBL Gene Tree for KCND3 (if available)
    TreeFam Gene Tree for KCND3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KCND3 gene
    KCNA62  KCNC22  KCNA22  KCNC42  KCND22  KCND12  KCNA72  KCNA52  
    KCNA12  KCNC12  KCNA42  KCNC32  KCNA32  KCNA102  
    Selected SIMAP similar genes for KCND3 using alignment to 3 protein entries:     KCND3_HUMAN (see all proteins) (see all similar genes):
    KCND2    KCND1    KCNA1    KCNV1    KCNA10    KCNA2
    KCNB1    KCNA5    KCNA7    KCNS2    KCNS3    KCNA3
    KCNG1    KCNG4    KCNG3    KCNF1    KCNC1    KCNG2

    KCND3 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 KCND3 (see all 4173)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0707894
    Spinocerebellar ataxia 19 (SCA19)4--see VAR_0707892 M I mis40--------
    VAR_0707914
    Spinocerebellar ataxia 19 (SCA19)4--see VAR_0707912 S N mis40--------
    VAR_0707874
    Spinocerebellar ataxia 19 (SCA19)4--see VAR_0707872 G V mis40--------
    VAR_0707884
    Spinocerebellar ataxia 19 (SCA19)4--see VAR_0707882 T P mis40--------
    VAR_0707904
    Spinocerebellar ataxia 19 (SCA19)4--see VAR_0707902 T M mis40--------
    VAR_0707864
    Spinocerebellar ataxia 19 (SCA19)4--see VAR_0707862 V E mis40--------
    VAR_0357754
    A colorectal cancer sample4--see VAR_0357752 V M mis40--------
    rs1896837771,2
    --110189359(+) CAAAGG/TGTAAG 2 -- ds50010--------
    rs2018607971,2
    --110189511(+) AGGAG-/AAAAAA 2 -- ds50010--------
    rs1817283051,2
    --110189555(+) AAGGTA/GTTGGG 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for KCND3 (112313284 - 112531777 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for KCND3:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1002713CNV Deletion20482838
    esv2675358CNV Deletion23128226
    nsv2432CNV Insertion18451855
    nsv528707CNV Loss19592680
    nsv463261CNV Loss19166990
    nsv463272CNV Loss19166990
    nsv872155CNV Loss21882294
    dgv331n71CNV Loss21882294
    nsv831048CNV Gain17160897
    nsv824143CNV Gain20364138

    Human Gene Mutation Database (HGMD): KCND3
    Locus Specific Mutation Databases (LSDB): KCND3

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KCND3
    DNA2.0 Custom Variant and Variant Library Synthesis for KCND3

    (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: 605411   
    OMIM disorders: 607346  
    UniProtKB/Swiss-Prot: KCND3_HUMAN, Q9UK17
  • Note=KCND3 rare variants may confer risk for lethal ventricular arrhytmias and be associated with
    autopsy-negative sudden unexplained death syndrome (SUDS)

  • Selected diseases for KCND3 (see all 22):    
    About MalaCards
    spinocerebellar ataxia 19    myokymia    brugada syndrome 1    episodic ataxia
    long qt syndrome    brugada syndrome    smallpox    sudden infant death syndrome
    thymoma    spinocerebellar ataxia    peripheral neuropathy    ataxia
    neuropathy    myocardial infarction    breast and colorectal cancer    type 1 diabetes
    hypertension    neuronitis    cerebritis    colorectal cancer

    2 diseases from the University of Copenhagen DISEASES database for KCND3:
    Brugada syndrome     Long QT syndrome

    KCND3 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for KCND3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    long qt syndrome 48.2 7 15563876 (2), 10942109 (1), 18052691 (1)
    arrhythmia 7.52 2 10942109 (1), 18855674 (1)

    Genetic Association Database (GAD): KCND3
    Human Genome Epidemiology (HuGE) Navigator: KCND3 (2 documents)

    Export disorders for KCND3 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 KCND3 gene, integrated from 10 sources (see all 106):
    (articles sorted by number of sources associating them with KCND3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Genomic organisation and chromosomal localisation of two members of the KCND ion channel family, KCND2 and KCND3. (PubMed id 10942109)1, 3, 9 Postma A.V....Mannens M.M. (Hum. Genet. 2000)
    3. 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)
    4. Mutations in KCND3 cause spinocerebellar ataxia type 22. (PubMed id 23280837)1, 3 Lee Y.C....Soong B.W. (Ann. Neurol. 2012)
    5. Novel mutations in the KCND3-encoded Kv4.3 K+ channel associated with autopsy-negative sudden unexplained death. (PubMed id 22457051)1, 2 Giudicessi J.R.... Ackerman M.J. (Hum. Mutat. 2012)
    6. 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)
    7. 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)
    8. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    9. 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)
    10. Two N-terminal domains of Kv4 K(+) channels regulate binding to and modulation by KChIP1. (PubMed id 14980207)1, 2 Scannevin R.H.... Rhodes K.J. (Neuron 2004)

    (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: 3752 HGNC: 6239 AceView: KCND3 Ensembl:ENSG00000171385 euGenes: HUgn3752
    ECgene: KCND3 H-InvDB: KCND3

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for KCND3 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for KCND3 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for KCND3 gene:
    Search GeneIP for patents involving KCND3

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



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