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Aliases for KCNC4 Gene

Aliases for KCNC4 Gene

  • Potassium Voltage-Gated Channel Subfamily C Member 4 2 3
  • Potassium Channel, Voltage Gated Shaw Related Subfamily C, Member 4 2 3 5
  • Potassium Voltage-Gated Channel, Shaw-Related Subfamily, Member 4 2 3
  • KSHIIIC 3 4
  • Voltage-Gated Potassium Channel Subunit KV3.4 3
  • Voltage-Gated Potassium Channel Subunit Kv3.4 4
  • Chromosome 1 Open Reading Frame 30 2
  • K+ Channel Subunit 3
  • HKSHIIIC 3
  • C1orf30 3
  • KV3.4 3

External Ids for KCNC4 Gene

Previous HGNC Symbols for KCNC4 Gene

  • C1orf30

Previous GeneCards Identifiers for KCNC4 Gene

  • GC01P111170
  • GC01P109620
  • GC01P109856
  • GC01P110052
  • GC01P110466
  • GC01P110555
  • GC01P110753
  • GC01P108626

Summaries for KCNC4 Gene

Entrez Gene Summary for KCNC4 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 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. It generates atypical voltage-dependent transient current that may be important for neuronal excitability. Multiple transcript variants have been found for this gene. [provided by RefSeq, Jul 2010]

GeneCards Summary for KCNC4 Gene

KCNC4 (Potassium Voltage-Gated Channel Subfamily C Member 4) is a Protein Coding gene. Diseases associated with KCNC4 include spinocerebellar ataxia 13. Among its related pathways are Transmission across Chemical Synapses and Potassium Channels. GO annotations related to this gene include ion channel activity and potassium channel activity. An important paralog of this gene is KCNA10.

UniProtKB/Swiss-Prot for KCNC4 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 KCNC4 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 KCNC4 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNC4 Gene

Genomics for KCNC4 Gene

Regulatory Elements for KCNC4 Gene

Promoters for KCNC4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around KCNC4 on UCSC Golden Path with GeneCards custom track

Genomic Location for KCNC4 Gene

Chromosome:
1
Start:
110,210,714 bp from pter
End:
110,283,100 bp from pter
Size:
72,387 bases
Orientation:
Plus strand

Genomic View for KCNC4 Gene

Genes around KCNC4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNC4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCNC4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNC4 Gene

Proteins for KCNC4 Gene

  • Protein details for KCNC4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q03721-KCNC4_HUMAN
    Recommended name:
    Potassium voltage-gated channel subfamily C member 4
    Protein Accession:
    Q03721
    Secondary Accessions:
    • Q3MIM4
    • Q5TBI6

    Protein attributes for KCNC4 Gene

    Size:
    635 amino acids
    Molecular mass:
    69767 Da
    Quaternary structure:
    • Homotetramer (Probable). Heterotetramer of potassium channel proteins (By similarity).

    Three dimensional structures from OCA and Proteopedia for KCNC4 Gene

    Alternative splice isoforms for KCNC4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KCNC4 Gene

Proteomics data for KCNC4 Gene at MOPED

Post-translational modifications for KCNC4 Gene

  • Phosphorylation of serine residues in the inactivation gate inhibits rapid channel closure.
  • Glycosylation at Asn 256 and Asn 265
  • Modification sites at PhosphoSitePlus

Other Protein References for KCNC4 Gene

Antibody Products

No data available for DME Specific Peptides for KCNC4 Gene

Domains & Families for KCNC4 Gene

Gene Families for KCNC4 Gene

Suggested Antigen Peptide Sequences for KCNC4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q03721

UniProtKB/Swiss-Prot:

KCNC4_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. Kv3.4/KCNC4 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. Kv3.4/KCNC4 sub-subfamily.
genes like me logo Genes that share domains with KCNC4: view

Function for KCNC4 Gene

Molecular function for KCNC4 Gene

GENATLAS Biochemistry:
potassium voltage-gated channel,Drosophila Shaw-related subfamily,member 4 (mouse Kv3.4 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.
genes like me logo Genes that share phenotypes with KCNC4: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KCNC4 Gene

Localization for KCNC4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNC4 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KCNC4 Gene COMPARTMENTS Subcellular localization image for KCNC4 gene
Compartment Confidence
plasma membrane 5
nucleus 3
cytosol 2

Gene Ontology (GO) - Cellular Components for KCNC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with KCNC4: view

Pathways & Interactions for KCNC4 Gene

genes like me logo Genes that share pathways with KCNC4: view

Pathways by source for KCNC4 Gene

1 Qiagen pathway for KCNC4 Gene

Interacting Proteins for KCNC4 Gene

SIGNOR curated interactions for KCNC4 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for KCNC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0046928 regulation of neurotransmitter secretion IEA --
genes like me logo Genes that share ontologies with KCNC4: view

Drugs & Compounds for KCNC4 Gene

(4) Drugs for KCNC4 Gene - From: Tocris, DrugBank, Novoseek, HMDB, and IUPHAR

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Potassium Experimental Pharma 0
Phosphonoserine Experimental Pharma Target 0
tetraethylammonium Experimental Pharma Inhibitor 1
Flupirtine maleate Pharma KV7 channel activator 0

(5) Additional Compounds for KCNC4 Gene - From: IUPHAR and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sea anemone toxin BDS-I
Inhibitor
L-364,373
103342-82-1
NS 1643
448895-37-2
NS 5806
426834-69-7
PD 118057
313674-97-4
genes like me logo Genes that share compounds with KCNC4: view

Transcripts for KCNC4 Gene

Unigene Clusters for KCNC4 Gene

Potassium voltage-gated channel, Shaw-related subfamily, member 4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KCNC4 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b · 4c
SP1: - - -
SP2: - - -
SP3:
SP4:

Relevant External Links for KCNC4 Gene

GeneLoc Exon Structure for
KCNC4
ECgene alternative splicing isoforms for
KCNC4

Expression for KCNC4 Gene

mRNA expression in normal human tissues for KCNC4 Gene

Protein differential expression in normal tissues from HIPED for KCNC4 Gene

This gene is overexpressed in Testis (65.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KCNC4 Gene



SOURCE GeneReport for Unigene cluster for KCNC4 Gene Hs.153521

genes like me logo Genes that share expression patterns with KCNC4: view

Protein tissue co-expression partners for KCNC4 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for KCNC4 Gene

Orthologs for KCNC4 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCNC4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KCNC4 35
  • 99.36 (n)
  • 99.68 (a)
KCNC4 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KCNC4 36
  • 94 (a)
OneToOne
KCNC4 35
  • 92.46 (n)
  • 96.15 (a)
dog
(Canis familiaris)
Mammalia KCNC4 35
  • 91.08 (n)
  • 92.63 (a)
KCNC4 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kcnc4 36
  • 94 (a)
OneToOne
Kcnc4 16
Kcnc4 35
  • 89.13 (n)
  • 97.03 (a)
oppossum
(Monodelphis domestica)
Mammalia KCNC4 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KCNC4 36
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kcnc4 35
  • 89.46 (n)
  • 97.2 (a)
chicken
(Gallus gallus)
Aves KCNC4 35
  • 78.29 (n)
  • 82.81 (a)
KCNC4 36
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KCNC4 36
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kcnc4 35
  • 70.54 (n)
  • 79.86 (a)
zebrafish
(Danio rerio)
Actinopterygii kcnc4 36
  • 70 (a)
OneToOne
kcnc4 35
  • 71.06 (n)
  • 73.62 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG4450 37
  • 44 (a)
Shaw 37
  • 48 (a)
worm
(Caenorhabditis elegans)
Secernentea shw-3 37
  • 42 (a)
Species with no ortholog for KCNC4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 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 KCNC4 Gene

ENSEMBL:
Gene Tree for KCNC4 (if available)
TreeFam:
Gene Tree for KCNC4 (if available)

Paralogs for KCNC4 Gene

(15) SIMAP similar genes for KCNC4 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with KCNC4: view

Variants for KCNC4 Gene

Sequence variations from dbSNP and Humsavar for KCNC4 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs12411176 - 110,223,844(+) CACCT(A/G)CAGTG intron-variant, nc-transcript-variant, reference, missense
rs35167146 - 110,223,237(+) TCATC(G/T)ACTTT intron-variant, nc-transcript-variant, reference, missense
rs59123361 - 110,223,832(+) CCCCC(A/G)GGACA intron-variant, nc-transcript-variant, reference, missense
rs514092 -- 110,218,661(+) TTTCA(C/G/T)TTTAT intron-variant
rs663810 -- 110,215,332(-) CTCGT(A/G)CCTGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KCNC4 Gene

Variant ID Type Subtype PubMed ID
esv991777 CNV Deletion 20482838

Variation tolerance for KCNC4 Gene

Residual Variation Intolerance Score: 39% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.86; 74.06% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KCNC4 Gene

HapMap Linkage Disequilibrium report
KCNC4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNC4 Gene

Disorders for KCNC4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KCNC4 Gene - From: DISEASES

Disorder Aliases PubMed IDs
spinocerebellar ataxia 13
  • spinocerebellar ataxia type 13
- elite association - COSMIC cancer census association via MalaCards
Search KCNC4 in MalaCards View complete list of genes associated with diseases

Relevant External Links for KCNC4

Genetic Association Database (GAD)
KCNC4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KCNC4
genes like me logo Genes that share disorders with KCNC4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KCNC4 Gene

Publications for KCNC4 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 67
  2. Cell cycle-dependent expression of Kv3.4 channels modulates proliferation of human uterine artery smooth muscle cells. (PMID: 20093253) Miguel-Velado E. … PAcrez-GarcA-a M.T. (Cardiovasc. Res. 2010) 3 23
  3. Phosphorylation and protonation of neighboring MiRP2 sites: function and pathophysiology of MiRP2-Kv3.4 potassium channels in periodic paralysis. (PMID: 16449802) Abbott G.W. … Goldstein S.A. (FASEB J. 2006) 3 23
  4. 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
  5. Cloning of a human cDNA expressing a high voltage-activating, TEA-sensitive, type-A K+ channel which maps to chromosome 1 band p21. (PMID: 1920536) Rudy B. … Ward D.C. (J. Neurosci. Res. 1991) 2 3

Products for KCNC4 Gene

Sources for KCNC4 Gene

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