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

KCND3 Gene

protein-coding   GIFtS: 68
GCID: GC01M112313

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)
About This Section

Aliases
Potassium Voltage-Gated Channel, Shal-Related Subfamily, Member 31 2     KV4.32
Voltage-Gated Potassium Channel Subunit Kv4.32 3     Potassium Ionic Channel Kv4.32
KCND3L2 5     Potassium Voltage-Gated Channel Subfamily D Member 32
KCND3S2 5     Sha1-Related Potassium Channel Kv4.32
KSHIVB2     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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 type 19/22, and myokymia, 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 A-type (transient outward) potassium channel activity. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_032977.9  NC_018912.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for KCND3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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
Subcellular location: Membrane; Multi-pass membrane protein. Cell membrane, sarcolemma (By similarity). Cell
projection, dendrite (By similarity)
2 PDB 3D structures from and Proteopedia for KCND3:
1S1G (3D)        2NZ0 (3D)    
Secondary accessions: O60576 O60577 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:

  • UniProtKB: Regulated through phosphorylation at Ser-569 by CaMK2D (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UK17

  • KCND3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KCND3 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_004971.2  NP_751948.1  

    ENSEMBL proteins: 
     ENSP00000358711   ENSP00000319591   ENSP00000306923  
    Reactome Protein details: Q9UK17
    Human Recombinant Protein Products for KCND3: 
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    Cloud-Clone Corp. Proteins for KCND3 

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

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

    KCND3 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: Kv4.3 
    Voltage-gated potassium channels

    5/11 InterPro protein domains (see all 11):
     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,
    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: 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): 5/8 molecular function terms (GO ID links to tree view) (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:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for KCND3 
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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 KCND3 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 KCND3
        Potassium transporters- outward current

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

    3        Reactome Pathways for KCND3
        Potassium Channels
    Neuronal System
    Voltage gated Potassium channels

    1 PharmGKB Pathway for KCND3
        Antiarrhythmic Pathway, Pharmacodynamics


    KCND3 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for KCND3

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

    5/45 Interacting proteins for KCND3 (Q9UK173 ENSP000003195914) via UniProtKB, MINT, STRING, and/or I2D (see all 45)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KCNIP2Q9NS613, ENSP000004200404I2D: score=1 STRING: ENSP00000420040
    KCNIP1Q9NZI23, ENSP000003953234I2D: score=1 STRING: ENSP00000395323
    TANGO2Q6ICL33I2D: score=5 
    IL16Q140053I2D: score=1 
    KCNA10ENSP000003587864STRING: ENSP00000358786
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (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 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

    KCND3 for compounds           About GeneDecksing

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

    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)

    Search CenterWatch for drugs/clinical trials and news about KCND3

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for KCND3 gene (2 alternative transcripts): 
    NM_004980.4  NM_172198.2  

    Unigene Cluster for KCND3:

    Potassium voltage-gated channel, Shal-related subfamily, member 3
    Hs.666367  [show with all ESTs]
    Unigene Representative Sequence: AF120491
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000369697 ENST00000315987(uc001ebu.1) ENST00000302127(uc001ebv.1)

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    Additional mRNA sequence: 

    AF048712.1 AF048713.1 AF120491.1 AF187963.1 AF187964.1 AF205856.1 AF205857.1 BC113475.1 
    BC113477.1 BC143390.1 

    3 DOTS entries:

    DT.91801062  DT.91801061  DT.65286287 

    12 AceView cDNA sequences:

    NM_004980 BX096687 NM_172198 AF187963 AF048712 AF187964 BI033106 AF205856 
    AF120491 AF205857 AF048713 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™, 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

    KCND3 expression in normal human tissues (normalized intensities)      KCND3 embryonic expression: see
    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 
     5/3 selected tissues (see all 3) fully expand
     
     Amnion (Extraembryonic Tissues)
             Amniotic Epithelial Cells Amniotic Membrane
     
     Epidermis (Integumentary System)
     
     Dermis (Integumentary System)

    See KCND3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KCND3

    SOURCE GeneReport for Unigene cluster: Hs.666367

    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

        SABiosciences Expression via Pathway-Focused PCR Array including KCND3: 
              Neuronal Ion Channels in human mouse rat

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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for KCND3 gene from 7/14 species (see all 14)    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, more1, 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, more 82.6(n)
    94.96(a)
      374228  NM_204326.1  NP_989657.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    --
    95(a)
    78(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, more 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 more
    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)
    About This Section
    Paralogs for KCND3 gene
    KCNA62  KCNC22  KCNA22  KCNC42  KCND22  KCND12  KCNA72  KCNA52  
    KCNA12  KCNC12  KCNA42  KCNC32  KCNA32  KCNA102  
    18/20 SIMAP similar genes for KCND3 using alignment to 4 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) 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

    10/4167 SNPs in KCND3 are shown (see all 4167)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0357754
    A colorectal cancer sample4--see VAR_0357752 V M mis40--------
    VAR_0676954
    ----see VAR_0676952 S R mis40--------
    VAR_0676944
    ----see VAR_0676942 V I mis40--------
    rs1896837771,2
    --110189359(+) CAAAGG/TGTAAG 2 -- ds50010--------
    rs2018607971,2
    --110189511(+) AGGAG-/AAAAAA 2 -- ds50010--------
    rs1817283051,2
    --110189555(+) AAGGTA/GTTGGG 2 -- ds50010--------
    rs725487381,2
    C,F--110189843(-) GGGGG-/GTCGGG 2 -- ds50011Minor allele frequency- G:0.03--1158
    rs725487361,2
    C,F--110189876(-) CTCACT/CGGGGC 2 -- ut311Minor allele frequency- C:0.01--1158
    rs120332571,2
    C,F,H--110189886(+) GATGCA/GGTATC 2 -- ut31 ese323Minor allele frequency- G:0.39NA NS EA WA CSA 3621
    rs725487351,2
    C,F--110189908(-) GCTAGC/TGTGGA 2 -- ut312Minor allele frequency- T:0.00WA 1276

    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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 605411    OMIM disorders: --

    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)

  • 15 diseases for KCND3:    About MalaCards
    spinocerebellar ataxia type 19/22    myokymia    episodic ataxia    long qt syndrome
    brugada syndrome    sudden infant death syndrome    smallpox    thymoma
    peripheral neuropathy    ataxia    neuropathy    hypertension
    myocardial infarction    cerebritis    neuronitis

    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)
    About This Section

    PubMed articles for KCND3 gene, integrated from 9 sources (see all 104):
    (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. (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. (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. (2000)
    4. 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. (2012)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    6. 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. (2009)
    7. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    8. 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)
    9. 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. (2004)
    10. Modulation of Kv4.3 current by accessory subunits. (PubMed id 12297301)1, 2 Deschenes I. and Tomaselli G.F. (2002)

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

    (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 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.)
    About This Section
    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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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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