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Aliases for KCNC3 Gene

Aliases for KCNC3 Gene

  • Potassium Voltage-Gated Channel Subfamily C Member 3 2 3 5
  • Potassium Channel, Voltage Gated Shaw Related Subfamily C, Member 3 2 3
  • Potassium Voltage-Gated Channel, Shaw-Related Subfamily, Member 3 2 3
  • Voltage-Gated Potassium Channel Subunit Kv3.3 3 4
  • KSHIIID 3 4
  • Shaw-Related Voltage-Gated Potassium Channel Protein 3 3
  • Voltage-Gated Potassium Channel Protein KV3.3 3
  • Spinocerebellar Ataxia 13 2
  • KV3.3 3
  • SCA13 3

External Ids for KCNC3 Gene

Previous HGNC Symbols for KCNC3 Gene

  • SCA13

Previous GeneCards Identifiers for KCNC3 Gene

  • GC19M051447
  • GC19M051180
  • GC19M055494
  • GC19M055510
  • GC19M050815
  • GC19M047156

Summaries for KCNC3 Gene

Entrez Gene Summary for KCNC3 Gene

  • The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to one of these subfamilies, namely the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. Alternate splicing results in several transcript variants. [provided by RefSeq, Mar 2014]

GeneCards Summary for KCNC3 Gene

KCNC3 (Potassium Voltage-Gated Channel Subfamily C Member 3) is a Protein Coding gene. Diseases associated with KCNC3 include Spinocerebellar Ataxia 13 and Spinocerebellar Ataxia Type13. Among its related pathways are Potassium Channels and Dopamine-DARPP32 Feedback onto cAMP Pathway. GO annotations related to this gene include ion channel activity and delayed rectifier potassium channel activity. An important paralog of this gene is KCNC1.

UniProtKB/Swiss-Prot for KCNC3 Gene

  • This protein mediates the voltage-dependent potassium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a potassium-selective channel through which potassium ions may pass in accordance with their electrochemical gradient.

Tocris Summary for KCNC3 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 KCNC3 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNC3 Gene

Genomics for KCNC3 Gene

Regulatory Elements for KCNC3 Gene

Enhancers for KCNC3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around KCNC3 on UCSC Golden Path with GeneCards custom track

Promoters for KCNC3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around KCNC3 on UCSC Golden Path with GeneCards custom track

Genomic Location for KCNC3 Gene

Chromosome:
19
Start:
50,311,937 bp from pter
End:
50,333,515 bp from pter
Size:
21,579 bases
Orientation:
Minus strand

Genomic View for KCNC3 Gene

Genes around KCNC3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNC3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCNC3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNC3 Gene

Proteins for KCNC3 Gene

  • Protein details for KCNC3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14003-KCNC3_HUMAN
    Recommended name:
    Potassium voltage-gated channel subfamily C member 3
    Protein Accession:
    Q14003

    Protein attributes for KCNC3 Gene

    Size:
    757 amino acids
    Molecular mass:
    80578 Da
    Quaternary structure:
    • Homotetramer or heterotetramer. Heterotetramer with KCNC1.

neXtProt entry for KCNC3 Gene

Post-translational modifications for KCNC3 Gene

Other Protein References for KCNC3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for KCNC3

No data available for DME Specific Peptides for KCNC3 Gene

Domains & Families for KCNC3 Gene

Gene Families for KCNC3 Gene

Suggested Antigen Peptide Sequences for KCNC3 Gene

Graphical View of Domain Structure for InterPro Entry

Q14003

UniProtKB/Swiss-Prot:

KCNC3_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. C (Shaw) (TC 1.A.1.2) subfamily. Kv3.3/KCNC3 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.
  • The tail may be important in modulation of channel activity and/or targeting of the channel to specific subcellular compartments.
Family:
  • Belongs to the potassium channel family. C (Shaw) (TC 1.A.1.2) subfamily. Kv3.3/KCNC3 sub-subfamily.
genes like me logo Genes that share domains with KCNC3: view

Function for KCNC3 Gene

Molecular function for KCNC3 Gene

GENATLAS Biochemistry:
potassium voltage-gated channel,Drosophila Shaw-related subfamily,member 3 (mouse Kv3.3 homolog)
UniProtKB/Swiss-Prot Function:
This protein mediates the voltage-dependent potassium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a potassium-selective channel through which potassium ions may pass in accordance with their electrochemical gradient.

Gene Ontology (GO) - Molecular Function for KCNC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005249 voltage-gated potassium channel activity IMP 19953606
GO:0005251 delayed rectifier potassium channel activity IBA --
genes like me logo Genes that share ontologies with KCNC3: view
genes like me logo Genes that share phenotypes with KCNC3: view

Human Phenotype Ontology for KCNC3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KCNC3 Gene

MGI Knock Outs for KCNC3:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for KCNC3 Gene

Localization for KCNC3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNC3 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KCNC3 Gene COMPARTMENTS Subcellular localization image for KCNC3 gene
Compartment Confidence
plasma membrane 5
nucleus 1

Gene Ontology (GO) - Cellular Components for KCNC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0008076 voltage-gated potassium channel complex IDA 23734863
genes like me logo Genes that share ontologies with KCNC3: view

Pathways & Interactions for KCNC3 Gene

genes like me logo Genes that share pathways with KCNC3: view

Pathways by source for KCNC3 Gene

1 Qiagen pathway for KCNC3 Gene

Gene Ontology (GO) - Biological Process for KCNC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0034765 regulation of ion transmembrane transport IEA --
GO:0051260 protein homooligomerization IEA --
GO:0051262 protein tetramerization IDA 23734863
GO:0071805 potassium ion transmembrane transport IMP 19953606
genes like me logo Genes that share ontologies with KCNC3: view

No data available for SIGNOR curated interactions for KCNC3 Gene

Drugs & Compounds for KCNC3 Gene

(6) Drugs for KCNC3 Gene - From: DrugBank, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
4-Aminopyridine Approved Pharma Pore Blocker, Target, antagonist potassium channel-blocking agent, Non-selective KV channel blocker 67
Potassium Approved Pharma 0
tetraethylammonium Experimental Pharma Inhibitor 1
E-4031 dihydrochloride Pharma KV11.1 (hERG) channel blocker; inhibits rapid delayed rectifier K+ current (IKr) 0
Linopirdine dihydrochloride Pharma KV7 (KCNQ) channel blocker 0

(1) Additional Compounds for KCNC3 Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
HMR 1556
223749-46-0

(5) Tocris Compounds for KCNC3 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
HMR 1556 Potent and selective Iks channel blocker 223749-46-0
Linopirdine dihydrochloride KV7 (KCNQ) channel blocker 113168-57-3
XE 991 dihydrochloride Potent, selective KV7 (KCNQ) channel blocker; blocks M-currents 122955-13-9
genes like me logo Genes that share compounds with KCNC3: view

Transcripts for KCNC3 Gene

mRNA/cDNA for KCNC3 Gene

Unigene Clusters for KCNC3 Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KCNC3 Gene

No ASD Table

Relevant External Links for KCNC3 Gene

GeneLoc Exon Structure for
KCNC3
ECgene alternative splicing isoforms for
KCNC3

Expression for KCNC3 Gene

mRNA expression in normal human tissues for KCNC3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KCNC3 Gene

This gene is overexpressed in Brain - Cerebellum (x6.6), Thyroid (x5.5), and Brain - Cerebellar Hemisphere (x5.3).

Protein differential expression in normal tissues from HIPED for KCNC3 Gene

This gene is overexpressed in Adipocyte (40.3), Pancreatic juice (18.8), and Frontal cortex (9.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KCNC3 Gene



Protein tissue co-expression partners for KCNC3 Gene

NURSA nuclear receptor signaling pathways regulating expression of KCNC3 Gene:

KCNC3

SOURCE GeneReport for Unigene cluster for KCNC3 Gene:

Hs.467146
genes like me logo Genes that share expression patterns with KCNC3: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for KCNC3 Gene

Orthologs for KCNC3 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCNC3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia KCNC3 34
  • 91.23 (n)
  • 95.11 (a)
KCNC3 35
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kcnc3 34
  • 87.28 (n)
  • 94.05 (a)
Kcnc3 16
Kcnc3 35
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kcnc3 34
  • 86.49 (n)
  • 93.5 (a)
lizard
(Anolis carolinensis)
Reptilia KCNC3 35
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100497714 34
  • 70.47 (n)
  • 82.21 (a)
African clawed frog
(Xenopus laevis)
Amphibia kcnc3-A 34
zebrafish
(Danio rerio)
Actinopterygii kcnc3b 34
  • 72.68 (n)
  • 75.36 (a)
kcnc3a 35
  • 68 (a)
OneToMany
kcnc3b 35
  • 70 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG4450 36
  • 43 (a)
Shaw 36
  • 47 (a)
worm
(Caenorhabditis elegans)
Secernentea shw-3 36
  • 44 (a)
Species where no ortholog for KCNC3 was found in the sources mined by GeneCards:
  • 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)
  • chicken (Gallus gallus)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 KCNC3 Gene

ENSEMBL:
Gene Tree for KCNC3 (if available)
TreeFam:
Gene Tree for KCNC3 (if available)

Paralogs for KCNC3 Gene

(7) SIMAP similar genes for KCNC3 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with KCNC3: view

Variants for KCNC3 Gene

Sequence variations from dbSNP and Humsavar for KCNC3 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs104894699 Spinocerebellar ataxia 13 (SCA13) 50,323,694(-) CGTCC(A/G)CATCC intron-variant, reference, missense
rs104894700 Spinocerebellar ataxia 13 (SCA13) 50,323,609(-) GAGTT(A/C)CTGCT intron-variant, reference, missense
VAR_074192 -
VAR_074193 -
VAR_074194 -

Structural Variations from Database of Genomic Variants (DGV) for KCNC3 Gene

Variant ID Type Subtype PubMed ID
esv2673553 CNV deletion 23128226
nsv1066389 CNV gain 25217958
nsv1133010 OTHER inversion 24896259
nsv1140251 OTHER inversion 24896259
nsv1152956 OTHER inversion 26484159
nsv523948 CNV gain 19592680
nsv953603 CNV deletion 24416366

Variation tolerance for KCNC3 Gene

Residual Variation Intolerance Score: 7.66% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.69; 57.26% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KCNC3 Gene

Human Gene Mutation Database (HGMD)
KCNC3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCNC3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNC3 Gene

Disorders for KCNC3 Gene

MalaCards: The human disease database

(9) MalaCards diseases for KCNC3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spinocerebellar ataxia 13
  • spinocerebellar ataxia type 13
spinocerebellar ataxia type13
  • sca 13
autosomal dominant cerebellar ataxia
  • spinocerebellar ataxia
cerebral palsy, ataxic, autosomal recessive
  • ataxic cerebral palsy
spinocerebellar ataxia 15
  • spinocerebellar ataxia type 15
- elite association - COSMIC cancer census association via MalaCards
Search KCNC3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KCNC3_HUMAN
  • Spinocerebellar ataxia 13 (SCA13) [MIM:605259]: Spinocerebellar ataxia is 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. SCA13 is an autosomal dominant cerebellar ataxia (ADCA) characterized by slow progression and variable age at onset, ranging from childhood to late adulthood. Mental retardation can be present in some patients. {ECO:0000269 PubMed:16501573, ECO:0000269 PubMed:19953606, ECO:0000269 PubMed:21479265, ECO:0000269 PubMed:23734863, ECO:0000269 PubMed:25152487, ECO:0000269 PubMed:25756792}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for KCNC3

Human Genome Epidemiology (HuGE) Navigator
KCNC3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KCNC3
genes like me logo Genes that share disorders with KCNC3: view

No data available for Genatlas for KCNC3 Gene

Publications for KCNC3 Gene

  1. KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients. (PMID: 19953606) Figueroa K.P. … Pulst S.M. (Hum. Mutat. 2010) 3 4 22 65
  2. Kv3.3 potassium channels in lens epithelium and corneal endothelium. (PMID: 10712820) Rae J.L. … Shepard A.R. (Exp. Eye Res. 2000) 3 4 22 65
  3. Localization of Shaw-related K+ channel genes on mouse and human chromosomes. (PMID: 8111118) Haas M. … Rudy B. (Mamm. Genome 1993) 2 3 22 65
  4. Genomic organization, nucleotide sequence, and cellular distribution of a Shaw-related potassium channel gene, Kv3.3, and mapping of Kv3.3 and Kv3.4 to human chromosomes 19 and 1. (PMID: 1740329) Ghanshani S. … Chandy K.G. (Genomics 1992) 2 3 22 65
  5. Functional analysis helps to define KCNC3 mutational spectrum in dutch ataxia cases. (PMID: 25756792) Duarri A. … Verbeek D.S. (PLoS ONE 2015) 3 4 65

Products for KCNC3 Gene

Sources for KCNC3 Gene

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