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Aliases for KCND3 Gene

Aliases for KCND3 Gene

  • Potassium Channel, Voltage Gated Shal Related Subfamily D, Member 3 2 3
  • Potassium Voltage-Gated Channel, Shal-Related Subfamily, Member 3 2 3
  • Voltage-Gated Potassium Channel Subunit Kv4.3 3 4
  • KCND3L 3 6
  • KCND3S 3 6
  • SCA19 3 6
  • SCA22 3 6
  • Potassium Voltage-Gated Channel Subfamily D Member 3 3
  • Sha1-Related Potassium Channel Kv4.3 3
  • Potassium Ionic Channel Kv4.3 3
  • Spinocerebellar Ataxia 22 2
  • Spinocerebellar Ataxia 19 2
  • Voltage-Gated K+ Channel 3
  • KSHIVB 3
  • KV4.3 3

External Ids for KCND3 Gene

Previous HGNC Symbols for KCND3 Gene

  • SCA22
  • SCA19

Previous GeneCards Identifiers for KCND3 Gene

  • GC01M112734
  • GC01M111189
  • GC01M111420
  • GC01M111617
  • GC01M112030
  • GC01M112114
  • GC01M112313
  • GC01M110189

Summaries for KCND3 Gene

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 Channel, Voltage Gated Shal Related Subfamily D, Member 3) is a Protein Coding gene. Diseases associated with KCND3 include spinocerebellar ataxia 19 and episodic ataxia/myokymia syndrome. Among its related pathways are Transmission across Chemical Synapses and Antiarrhythmic Pathway, Pharmacodynamics. GO annotations related to this gene include ion channel binding and A-type (transient outward) potassium channel activity. An important paralog of this gene is KCNA10.

UniProtKB/Swiss-Prot for KCND3 Gene

  • 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.

Tocris 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

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCND3 Gene

Genomics for KCND3 Gene

Regulatory Elements for KCND3 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for KCND3 Gene

Start:
111,770,662 bp from pter
End:
111,989,530 bp from pter
Size:
218,869 bases
Orientation:
Minus strand

Genomic View for KCND3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KCND3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCND3 Gene

Proteins for KCND3 Gene

  • Protein details for KCND3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UK17-KCND3_HUMAN
    Recommended name:
    Potassium voltage-gated channel subfamily D member 3
    Protein Accession:
    Q9UK17
    Secondary Accessions:
    • O60576
    • O60577
    • Q14D71
    • Q5T0M0
    • Q9UH85
    • Q9UH86
    • Q9UK16

    Protein attributes for KCND3 Gene

    Size:
    655 amino acids
    Molecular mass:
    73451 Da
    Quaternary structure:
    • 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.

    Three dimensional structures from OCA and Proteopedia for KCND3 Gene

    Alternative splice isoforms for KCND3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KCND3 Gene

Proteomics data for KCND3 Gene at MOPED

Post-translational modifications for KCND3 Gene

Other Protein References for KCND3 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for KCND3 Gene

Domains for KCND3 Gene

Gene Families for KCND3 Gene

HGNC:
  • KCN :Potassium channels
  • Kv :Voltage-gated ion channels / Potassium channels
IUPHAR :

Graphical View of Domain Structure for InterPro Entry

Q9UK17

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
Family:
  • Belongs to the potassium channel family. D (Shal) (TC 1.A.1.2) subfamily. Kv4.3/KCND3 sub-subfamily.
genes like me logo Genes that share domains with KCND3: view

Function for KCND3 Gene

Molecular function for KCND3 Gene

GENATLAS Biochemistry: potassium voltage-gated channel,Shal-related family member 3,expressed in the cerebral cortex (mouse Kv8.1 homolog),inhibiting expression of Shaw channels
UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for KCND3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity --
GO:0005249 voltage-gated potassium channel activity --
GO:0005250 contributes_to A-type (transient outward) potassium channel activity IDA 21493962
GO:0005251 NOT delayed rectifier potassium channel activity IBA --
GO:0005267 potassium channel activity --
genes like me logo Genes that share ontologies with KCND3: view

Phenotypes for KCND3 Gene

MGI mutant phenotypes for KCND3:
inferred from 1 alleles
GenomeRNAi human phenotypes for KCND3:
genes like me logo Genes that share phenotypes with KCND3: view

Animal Model Products

CRISPR Products

miRNA for KCND3 Gene

miRTarBase miRNAs that target KCND3

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for KCND3 Gene

Localization for KCND3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCND3 Gene

Membrane; Multi-pass membrane protein. Cell membrane, sarcolemma. Cell projection, dendrite.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KCND3 Gene COMPARTMENTS Subcellular localization image for KCND3 gene
Compartment Confidence
plasma membrane 4
lysosome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for KCND3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane --
GO:0008076 voltage-gated potassium channel complex IDA 21493962
GO:0016020 membrane --
GO:0030425 dendrite IEA --
genes like me logo Genes that share ontologies with KCND3: view

Pathways for KCND3 Gene

genes like me logo Genes that share pathways with KCND3: view

Pathways by source for KCND3 Gene

1 Qiagen pathway for KCND3 Gene
1 PharmGKB pathway for KCND3 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for KCND3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport --
GO:0006813 potassium ion transport TAS 8734615
GO:0007268 synaptic transmission TAS --
GO:0008219 cell death --
GO:0034765 regulation of ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with KCND3: view

Compounds for KCND3 Gene

(5) Tocris Compounds for KCND3 Gene

Compound Action Cas Number
4-Aminopyridine Non-selective KV channel blocker [504-24-5]
E-4031 dihydrochloride KV11.1 (hERG) channel blocker; inhibits rapid delayed rectifier K+ current (IKr) [113559-13-0]
Margatoxin Potent KV1.3 channel blocker [145808-47-5]
MaxiPost Potassium channel modulator; exerts subtype-specific effects [187523-35-9]
XE 991 dihydrochloride Potent, selective KV7 (KCNQ) channel blocker; blocks M-currents [122955-13-9]

(1) HMDB Compounds for KCND3 Gene

Compound Synonyms Cas Number PubMed IDs
Potassium
  • K+
7440-09-7

(4) Drugbank Compounds for KCND3 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Amitriptyline
  • Amitriprolidine
50-48-6 target inhibitor
Dalfampridine
  • 4-Aminopyridine
504-24-5 target antagonist
Disopyramide
  • Disopiramida [INN-Spanish]
3737-09-5 target inhibitor
Imipramine
50-49-7 target inhibitor

(4) Novoseek inferred chemical compound relationships for KCND3 Gene

Compound -log(P) Hits PubMed IDs
potassium 64.2 9
4-aminopyridine 50.2 3
calcium 9.45 2
lipid 0 2
genes like me logo Genes that share compounds with KCND3: view

Transcripts for KCND3 Gene

mRNA/cDNA for KCND3 Gene

(11) REFSEQ mRNAs :
(12) Selected AceView cDNA sequences:
(10) Additional mRNA sequences :
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KCND3 Gene

Potassium voltage-gated channel, Shal-related subfamily, member 3:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for KCND3

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for KCND3

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KCND3 Gene

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

Relevant External Links for KCND3 Gene

GeneLoc Exon Structure for
KCND3
ECgene alternative splicing isoforms for
KCND3

Expression for KCND3 Gene

mRNA expression in normal human tissues for KCND3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KCND3 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (4.7) and Brain - Cerebellum (4.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for KCND3 Gene

SOURCE GeneReport for Unigene cluster for KCND3 Gene Hs.666367

mRNA Expression by UniProt/SwissProt for KCND3 Gene

Q9UK17-KCND3_HUMAN
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.
genes like me logo Genes that share expressions with KCND3: view

In Situ Assay Products

Orthologs for KCND3 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCND3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KCND3 35
  • 99.85 (n)
  • 100 (a)
KCND3 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KCND3 35
  • 94.2 (n)
  • 99.69 (a)
KCND3 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KCND3 35
  • 93.79 (n)
  • 99.24 (a)
KCND3 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kcnd3 35
  • 91.4 (n)
  • 99.39 (a)
Kcnd3 16
Kcnd3 36
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KCND3 36
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KCND3 36
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kcnd3 35
  • 92.01 (n)
  • 99.54 (a)
chicken
(Gallus gallus)
Aves KCND3 35
  • 82.65 (n)
  • 94.96 (a)
KCND3 36
  • 95 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 87 (a)
OneToMany
-- 36
  • 95 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia kcnd3-A 35
tropical clawed frog
(Silurana tropicalis)
Amphibia kcnd3 35
  • 77.59 (n)
  • 92.5 (a)
zebrafish
(Danio rerio)
Actinopterygii kcnd3 35
  • 74.72 (n)
  • 79.33 (a)
kcnd3 36
  • 77 (a)
OneToOne
wufi06g01 35
fruit fly
(Drosophila melanogaster)
Insecta Shal 36
  • 66 (a)
OneToMany
Shal 37
  • 73 (a)
worm
(Caenorhabditis elegans)
Secernentea shl-1 36
  • 59 (a)
OneToMany
Y73B6BL.19 37
  • 65 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9633 36
  • 48 (a)
OneToMany
Species with no ortholog for KCND3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for KCND3 Gene

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

Paralogs for KCND3 Gene

Selected SIMAP similar genes for KCND3 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with KCND3: view

Variants for KCND3 Gene

Sequence variations from dbSNP and Humsavar for KCND3 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs471238 -- 111,802,387(-) GCTTA(C/G)GGCCT intron-variant
rs472945 -- 111,863,309(+) TTGAC(A/T)AACCT intron-variant
rs475508 -- 111,842,925(-) GATGC(C/T)GTTTA intron-variant
rs475620 -- 111,792,630(-) gccaa(A/G)gtcac intron-variant
rs475804 -- 111,863,624(+) GCAAT(G/T)AAGTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KCND3 Gene

Variant ID Type Subtype PubMed ID
nsv2432 CNV Insertion 18451855
dgv331n71 CNV Loss 21882294
esv2675358 CNV Deletion 23128226
esv1002713 CNV Deletion 20482838
nsv872155 CNV Loss 21882294
nsv463261 CNV Loss 19166990
nsv831048 CNV Gain 17160897
nsv528707 CNV Loss 19592680
nsv463272 CNV Loss 19166990
nsv824143 CNV Gain 20364138

Relevant External Links for KCND3 Gene

HapMap Linkage Disequilibrium report
KCND3
Human Gene Mutation Database (HGMD)
KCND3
Locus Specific Mutation Databases (LSDB)
KCND3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCND3 Gene

Disorders for KCND3 Gene

(1) OMIM Diseases for KCND3 Gene (605411)

UniProtKB/Swiss-Prot

KCND3_HUMAN
  • Spinocerebellar ataxia 19 (SCA19) [MIM:607346]: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA19 is a relatively mild, cerebellar ataxic syndrome with cognitive impairment, pyramidal tract involvement, tremor and peripheral neuropathy, and mild atrophy of the cerebellar hemispheres and vermis. {ECO:0000269 PubMed:23280837, ECO:0000269 PubMed:23280838}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=KCND3 rare variants may confer risk for lethal ventricular arrhytmias and be associated with autopsy-negative sudden unexplained death syndrome (SUDS).

(2) University of Copenhagen DISEASES for KCND3 Gene

(2) Novoseek inferred disease relationships for KCND3 Gene

Disease -log(P) Hits PubMed IDs
long qt syndrome 48.2 4
arrhythmia 7.52 2

Relevant External Links for KCND3

Genetic Association Database (GAD)
KCND3
Human Genome Epidemiology (HuGE) Navigator
KCND3
genes like me logo Genes that share disorders with KCND3: view

Publications for KCND3 Gene

  1. Genomic organisation and chromosomal localisation of two members of the KCND ion channel family, KCND2 and KCND3. (PMID: 10942109) Postma A.V. … Mannens M.M. (Hum. Genet. 2000) 2 3 23
  2. Gene structures and expression profiles of three human KCND (Kv4) potassium channels mediating A-type currents I(TO) and I(SA). (PMID: 10729221) Isbrandt D. … Pongs O. (Genomics 2000) 3 4 23
  3. 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. (PMID: 15563876) Frank-Hansen R. … Christiansen M. (Clin. Chim. Acta 2005) 3 23 48
  4. Mutations in KCND3 cause spinocerebellar ataxia type 22. (PMID: 23280837) Lee Y.C. … Soong B.W. (Ann. Neurol. 2012) 2 3 4
  5. Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19. (PMID: 23280838) Duarri A. … Verbeek D.S. (Ann. Neurol. 2012) 3 4

Products for KCND3 Gene

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