Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol KCND3 contributors: mct - updated : 27-08-2014
HGNC name potassium voltage-gated channel, Shal-related subfamily, member 3
HGNC id 6239
Corresponding disease
BRGS9 Brugada syndrome 9
SCA19 spinocerebellar ataxia 19
Location 1p13.2      Physical location : 112.318.453 - 112.531.777
Synonym symbol(s) KSHIVB, KV4.3, KCND3L, KCND3S
DNA
TYPE functioning gene
STRUCTURE 213.00 kb     8 Exon(s)
Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Physical map
LOC137829 1p13.2 similar to Nuclear receptor binding factor-2 CD53 1p13 CD53 antigen RIF1 1p13.2 receptor-interacting factor 1 MGC54289 1p13.2 hypothetical protein MGC54289 CEPT1 1p12 choline/ethanolaminephosphotransferase FLJ22457 1p13.2 hypothetical protein FLJ22457 CHI3L2 1p13.3 chitinase 3-like 2 LOC149620 1p13.2 similar to CHIA protein CHIA 1p21.3-p13.1 similar to CHIA protein LOC128344 1p13.2 hypothetical protein LOC128344 LOC388665 1 similar to DKFZP564K247 protein LOC391066 1 similar to pepsinogen B OVGP1 1p13 oviductal glycoprotein 1, 120kDa (mucin 9, oviductin) MEP50 1p13.2 MEP50 protein ATP5F1 1p12 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit b, isoform 1 MGC24133 1p13.2 hypothetical protein MGC24133 AD026 1p13.1 AD026 protein ADORA3 1p13.3 adenosine A3 receptor RAP1A 1p13.3 RAP1A, member of RAS oncogene family LOC55924 1pter-q31.3 hypothetical protein LOC55924 DDX20 1p21.1 DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 KCND3 1p13.2 potassium voltage-gated channel, Shal-related subfamily, member 3 AF357532 1q12 thioredoxin 1 pseudogene 5 DKFZp547A023 1p13.2 hypothetical protein DKFZp547A023 WNT2B 1p13 wingless-type MMTV integration site family, member 2B ST7L 1p12 suppression of tumorigenicity 7 like CAPZA1 1p13.1 capping protein (actin filament) muscle Z-line, alpha 1 MRPL53P1 1p13.2 capping protein (actin filament) muscle Z-line, alpha 1 MOV10 1p13.1 Mov10, Moloney leukemia virus 10, homolog (mouse) ARHC 1p21-p13 ras homolog gene family, member C LOC284467 1p13.1 TAFA3
RNA
TRANSCRIPTS type messenger
text a long isoform 3L and a short isoform 3S, one spliced variant inserting 19 AA with a consensus protein kinase C phosphorylation site
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
- - 2693 73.45 655 . predominating in most tissues . detected at similar levels as isoform 2 in brain, skeletal muscle and pancreas Isbrandt
  • an 8 exons variant
  • encoding for the longest isoform
  • also called KCND3L
  • - splicing 2636 71.26 636 . detected at similar levels as isoform 1 in brain, skeletal muscle and pancreas Dilks
  • a 7 exons variant
  • lacking exon 6
  • encoding for the shortest product
  • also called KCND3S
  • EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestiveliver   lowly
    Endocrinepancreas   lowly
    Nervousbrain   highly
     braindiencephalonamygdala highly
     brainforebraincerebral cortex highly
     brainhindbraincerebellum highly
     brainbasal nucleicaudate nucleus highly
    Urinarykidney   lowly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal lowly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an intracellular N and C termini
  • six transmembrane segments (6TM)
  • a pore region between S5 and S6
  • a phosphorylation site on exon 5
  • a probably voltage-sensor S4 segment
  • mono polymer complex
    HOMOLOGY
    interspecies homolog to dog KCND3 (98.78 pc)
    homolog to chimpanzee KCND3 (97.56 pc)
    homolog to chicken KCND3 (94.96 pc)
    homolog to rattus Kcnd3 (99.06 pc)
    homolog to murine Kcnd3 (99.39 pc)
    Homologene
    FAMILY
  • potassium channel family
  • D (Shal) subfamily
  • CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • involved in setting the frequency of neuronal firing and heart pacing
  • initial phase of repolarization and setting the plateau voltage of the ventricular actin potential
  • inhibiting expression of Shaw channels
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cardiovascular
    PATHWAY
    metabolism
    signaling
    a component alpha subunit underlying I (TD) (transient outward) K+ current
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with KCNE1, KCNE2, SCN1B and KCNAB1
  • cell & other
    REGULATION
    inhibited by by estrogen
    KCNE3 by reducing the KCND3 current amplitude and slowing down the channel activation and inactivation
    Other modulated by STX1A
    ASSOCIATED DISORDERS
    corresponding disease(s) SCA19 , BRGS9
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    dog