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Aliases for KCNC3 Gene

Aliases for KCNC3 Gene

  • 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
  • SCA13 3 6
  • Shaw-Related Voltage-Gated Potassium Channel Protein 3 3
  • Potassium Voltage-Gated Channel Subfamily C Member 3 3
  • Voltage-Gated Potassium Channel Protein KV3.3 3
  • Spinocerebellar Ataxia 13 2
  • KV3.3 3

External Ids for KCNC3 Gene

Previous Symbols for KCNC3 Gene

  • SCA13

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 Channel, Voltage Gated Shaw Related 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 Transmission across Chemical Synapses and Dopamine-DARPP32 Feedback onto cAMP Pathway. GO annotations related to this gene include voltage-gated potassium channel activity and delayed rectifier potassium channel activity. An important paralog of this gene is KCNA10.

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 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 KCNC3 Gene

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

Genomics for KCNC3 Gene

Genomic Location for KCNC3 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KCNC3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNC3 Gene

Regulatory Elements 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
    Secondary Accessions:

    Protein attributes for KCNC3 Gene

    Size:
    757 amino acids
    Molecular mass:
    80578 Da
    Quaternary structure:
    • Heterotetramer of potassium channel proteins.

neXtProt entry for KCNC3 Gene

Proteomics data for KCNC3 Gene at MOPED

Post-translational modifications for KCNC3 Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn320, Asn336, and Asn483

Other Protein References for KCNC3 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for KCNC3 Gene

Domains for KCNC3 Gene

Gene Families for KCNC3 Gene

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

Suggested Antigen Peptide Sequences for KCNC3 Gene

Graphical View of Domain Structure for InterPro Entry

Q14003

UniProtKB/Swiss-Prot:

KCNC3_HUMAN
Domain:
  • The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position:
    • Q14003
  • The tail may be important in modulation of channel activity and/or targeting of the channel to specific subcellular compartments:
    • Q14003
Family:
  • Belongs to the potassium channel family. C (Shaw) (TC 1.A.1.2) subfamily. Kv3.3/KCNC3 sub-subfamily.:
    • Q14003
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:0005216 ion channel activity --
GO:0005249 voltage-gated potassium channel activity TAS 1740329
GO:0005251 delayed rectifier potassium channel activity IBA --
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with KCNC3: view
genes like me logo Genes that share phenotypes with KCNC3: view

Animal Models for KCNC3 Gene

MGI Knock Outs for KCNC3:

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

Localization for KCNC3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNC3 Gene

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 4
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 IEA --
GO:0016020 membrane --
GO:0016021 integral component of membrane IBA --
GO:0030673 axolemma IEA --
genes like me logo Genes that share ontologies with KCNC3: view

Pathways 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:0006811 ion transport --
GO:0006813 potassium ion transport TAS 1740329
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 KCNC3: view

Compounds for KCNC3 Gene

(5) Tocris Compounds for KCNC3 Gene

Compound Action Cas Number
E-4031 dihydrochloride KV11.1 (hERG) channel blocker; inhibits rapid delayed rectifier K+ current (IKr) [113559-13-0]
ICA 110381 KV7.2/7.3 activator; displays anticonvulsant properties [325457-99-6]
JNJ 303 Potent and selective IKs blocker [878489-28-2]
ShK-Dap22 Extremely potent and selective KV1.3 blocker; suppresses T cell activation in vitro [220384-25-8]
XE 991 dihydrochloride Potent, selective KV7 (KCNQ) channel blocker; blocks M-current [122955-42-4]

(1) HMDB Compounds for KCNC3 Gene

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

(1) IUPHAR Ligand for KCNC3 Gene

Ligand Type Action Affinity Pubmed IDs
tetraethylammonium Inhibitor None

(1) Novoseek inferred chemical compound relationships for KCNC3 Gene

Compound -log(P) Hits PubMed IDs
potassium 54.4 3
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:

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 (6.6), Thyroid (5.5), and Brain - Cerebellar Hemisphere (5.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for KCNC3 Gene

SOURCE GeneReport for Unigene cluster for KCNC3 Gene Hs.467146

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

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 35
  • 91.23 (n)
  • 95.11 (a)
KCNC3 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kcnc3 35
  • 87.28 (n)
  • 94.05 (a)
Kcnc3 16
Kcnc3 36
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kcnc3 35
  • 86.49 (n)
  • 93.5 (a)
lizard
(Anolis carolinensis)
Reptilia KCNC3 36
  • 80 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia kcnc3-A 35
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100497714 35
  • 70.47 (n)
  • 82.21 (a)
zebrafish
(Danio rerio)
Actinopterygii kcnc3a 36
  • 68 (a)
OneToMany
kcnc3b 35
  • 72.68 (n)
  • 75.36 (a)
kcnc3b 36
  • 70 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Shaw 37
  • 47 (a)
CG4450 37
  • 43 (a)
worm
(Caenorhabditis elegans)
Secernentea shw-3 37
  • 44 (a)
Species with no ortholog for KCNC3:
  • 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

Selected 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 MAF
rs599751 -- 50,313,556(-) GAGTC(C/T)CTTCC nc-transcript-variant
rs604871 -- 50,327,099(-) AGCCC(C/G)TTTCC intron-variant
rs608403 -- 50,332,976(-) TTGGT(A/G)TCCAG intron-variant
rs636567 -- 50,324,528(-) TCTGC(C/T)CAGCT intron-variant
rs639619 -- 50,331,956(-) CAGGA(C/G)AGGCC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv523948 CNV Gain 19592680
esv2673553 CNV Deletion 23128226
dgv3976n71 CNV Loss 21882294

Relevant External Links for KCNC3 Gene

HapMap Linkage Disequilibrium report
KCNC3
Human Gene Mutation Database (HGMD)
KCNC3

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

Disorders for KCNC3 Gene

(1) OMIM Diseases for KCNC3 Gene (176264)

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}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for KCNC3 Gene

Relevant External Links for KCNC3

GeneTests
KCNC3
GeneReviews
KCNC3
Human Genome Epidemiology (HuGE) Navigator
KCNC3
genes like me logo Genes that share disorders with KCNC3: view

Publications for KCNC3 Gene

  1. 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 23
  2. Localization of Shaw-related K+ channel genes on mouse and human chromosomes. (PMID: 8111118) Haas M. … Rudy B. (Mamm. Genome 1993) 2 3 23
  3. Kv3.3 potassium channels in lens epithelium and corneal endothelium. (PMID: 10712820) Rae J.L. … Shepard A.R. (Exp. Eye Res. 2000) 3 4 23
  4. KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients. (PMID: 19953606) Figueroa K.P. … Pulst S.M. (Hum. Mutat. 2010) 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 KCNC3 Gene

Sources for KCNC3 Gene

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