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Aliases for KCND3 Gene

Aliases for KCND3 Gene

  • Potassium Voltage-Gated Channel Subfamily D Member 3 2 3
  • Potassium Channel, Voltage Gated Shal Related Subfamily D, Member 3 3 5
  • Potassium Voltage-Gated Channel, Shal-Related Subfamily, Member 3 2 3
  • Voltage-Gated Potassium Channel Subunit Kv4.3 3 4
  • Potassium Voltage-Gated Channel Long 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
  • BRGDA9 3
  • KCND3L 3
  • KCND3S 3
  • KSHIVB 3
  • KV4.3 3
  • SCA19 3
  • SCA22 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 Voltage-Gated Channel Subfamily D Member 3) is a Protein Coding gene. Diseases associated with KCND3 include Brugada Syndrome 9 and Spinocerebellar Ataxia 19. Among its related pathways are Potassium Channels and Transmission across Chemical Synapses. GO annotations related to this gene include ion channel activity and voltage-gated 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 alpha-subunits contain a single pore-forming region and combine to form tetramers.

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

Enhancers for KCND3 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around KCND3 on UCSC Golden Path with GeneCards custom track

Promoters for KCND3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around KCND3 on UCSC Golden Path with GeneCards custom track

Genomic Location for KCND3 Gene

Chromosome:
1
Start:
111,770,662 bp from pter
End:
111,989,576 bp from pter
Size:
218,915 bases
Orientation:
Minus strand

Genomic View for KCND3 Gene

Genes around KCND3 on UCSC Golden Path with GeneCards custom track

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

No data available for DME Specific Peptides for KCND3 Gene

Domains & Families for KCND3 Gene

Gene Families for KCND3 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UK17

UniProtKB/Swiss-Prot:

KCND3_HUMAN :
  • The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position.
  • Belongs to the potassium channel family. D (Shal) (TC 1.A.1.2) subfamily. Kv4.3/KCND3 sub-subfamily.
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.

Phenotypes for KCND3 Gene

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

Human Phenotype Ontology for KCND3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KCND3 Gene

MGI Knock Outs for KCND3:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for KCND3 Gene

Localization for KCND3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCND3 Gene

Cell membrane; Multi-pass membrane protein. Cell membrane, sarcolemma; Multi-pass membrane protein. Cell projection, dendrite. Note=Interaction with palmitoylated KCNIP2 and KCNIP3 enhances cell surface expression. {ECO:0000250 UniProtKB:Q62897}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KCND3 Gene COMPARTMENTS Subcellular localization image for KCND3 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 3
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for KCND3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0030425 dendrite IEA --
GO:0043005 neuron projection IEA --
GO:0043025 neuronal cell body IEA --
GO:0097038 perinuclear endoplasmic reticulum IEA --
genes like me logo Genes that share ontologies with KCND3: view

Pathways & Interactions for KCND3 Gene

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

Pathways by source for KCND3 Gene

Gene Ontology (GO) - Biological Process for KCND3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0071435 potassium ion export IDA 21493962
GO:0071773 cellular response to BMP stimulus IEA --
genes like me logo Genes that share ontologies with KCND3: view

No data available for SIGNOR curated interactions for KCND3 Gene

Drugs & Compounds for KCND3 Gene

(7) Drugs for KCND3 Gene - From: DrugBank, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Disopyramide Approved Pharma Target, inhibitor 3
Dalfampridine Approved Pharma Pore Blocker, Target, antagonist 65
Amitriptyline Approved Pharma Antagonist, Target, inhibitor 103
Imipramine Approved Pharma Antagonist, Target, inhibitor 27
Potassium Experimental Pharma 0

(5) Additional Compounds for KCND3 Gene - From: Tocris and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
L-364,373
103342-82-1
NS 1643
448895-37-2
NS 5806
426834-69-7
PD 118057
313674-97-4

(5) Tocris Compounds for KCND3 Gene

Compound Action Cas Number
Flupirtine maleate KV7 channel activator 75507-68-5
L-364,373 KV7.1 channel activator, activates IKs 103342-82-1
NS 1643 KV11.1 (hERG) channel activator; antiarrhythmic 448895-37-2
NS 5806 KV4.3 channel activator 426834-69-7
PD 118057 Selective KV11.1 (hERG) channel activator 313674-97-4
genes like me logo Genes that share compounds with KCND3: view

Transcripts for KCND3 Gene

mRNA/cDNA for KCND3 Gene

(11) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(12) Selected AceView cDNA 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:

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 (x4.7) and Brain - Cerebellum (x4.1).

Protein differential expression in normal tissues from HIPED for KCND3 Gene

This gene is overexpressed in Bone (37.1) and Frontal cortex (23.4).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with KCND3: view

Protein tissue co-expression partners for KCND3 Gene

- Elite partner

Primer 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
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
chimpanzee
(Pan troglodytes)
Mammalia KCND3 35
  • 99.85 (n)
  • 100 (a)
KCND3 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kcnd3 35
  • 92.01 (n)
  • 99.54 (a)
oppossum
(Monodelphis domestica)
Mammalia KCND3 36
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KCND3 36
  • 94 (a)
OneToOne
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
tropical clawed frog
(Silurana tropicalis)
Amphibia kcnd3 35
  • 77.59 (n)
  • 92.5 (a)
African clawed frog
(Xenopus laevis)
Amphibia kcnd3-A 35
zebrafish
(Danio rerio)
Actinopterygii kcnd3 35
  • 74.72 (n)
  • 79.33 (a)
wufi06g01 35
kcnd3 36
  • 77 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Shal 37
  • 73 (a)
Shal 36
  • 66 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y73B6BL.19 37
  • 65 (a)
shl-1 36
  • 59 (a)
OneToMany
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

(20) 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
VAR_035775 A colorectal cancer sample
VAR_067694 Brugada syndrome 9 (BRGDA9)
VAR_067695 Brugada syndrome 9 (BRGDA9)
rs149344567 Brugada syndrome 9 (BRGDA9) 111,776,247(+) CAGTC(C/T)GTCGT reference, missense, utr-variant-3-prime
VAR_070786 Spinocerebellar ataxia 19 (SCA19)

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

Variation tolerance for KCND3 Gene

Residual Variation Intolerance Score: 11.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.58; 12.45% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KCND3 Gene

Human Gene Mutation Database (HGMD)
KCND3

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

Disorders for KCND3 Gene

MalaCards: The human disease database

(13) MalaCards diseases for KCND3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
brugada syndrome 9
  • brgda9
spinocerebellar ataxia 19
  • sca22
spinocerebellar ataxia type19
  • spinocerebellar ataxia 19
spinocerebellar ataxia type 19/22
  • spinocerebellar ataxia 19/22
brugada syndrome
  • sudden unexpected nocturnal death syndrome
- elite association - COSMIC cancer census association via MalaCards
Search KCND3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KCND3_HUMAN
  • Brugada syndrome 9 (BRGDA9) [MIM:616399]: A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset. {ECO:0000269 PubMed:21349352, ECO:0000269 PubMed:22457051}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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.

Relevant External Links for KCND3

Genetic Association Database (GAD)
KCND3
Human Genome Epidemiology (HuGE) Navigator
KCND3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KCND3
genes like me logo Genes that share disorders with KCND3: view

No data available for Genatlas for KCND3 Gene

Publications for KCND3 Gene

  1. Mutations in KCND3 cause spinocerebellar ataxia type 22. (PMID: 23280837) Lee Y.C. … Soong B.W. (Ann. Neurol. 2012) 2 3 4 67
  2. 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
  3. [Atrial myocytes KChIP2 mRNA expression in rheumatic heart disease patients with atrial fibrillation]. (PMID: 19927631) Tan X.Q. … Zeng X.R. (Zhonghua Xin Xue Guan Bing Za Zhi 2009) 3 23
  4. Mutation analysis of candidate genes SCN1B, KCND3 and ANK2 in patients with clinical diagnosis of long QT syndrome. (PMID: 18052691) RaudenskA! M. … Spinar J. (Physiol Res 2008) 3 23
  5. International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels. (PMID: 16382104) Gutman G.A. … Wang X. (Pharmacol. Rev. 2005) 2 3

Products for KCND3 Gene

Sources for KCND3 Gene

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