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 io... See more...

Aliases for KCNC4 Gene

Aliases for KCNC4 Gene

  • Potassium Voltage-Gated Channel Subfamily C Member 4 2 3 4 5
  • Potassium Channel, Voltage Gated Shaw Related Subfamily C, Member 4 2 3
  • Potassium Voltage-Gated Channel, Shaw-Related Subfamily, Member 4 2 3
  • HKSHIIIC 2 3
  • C1orf30 3 4
  • 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
  • KV3.4 3
  • KCNC4 5
  • Kv3.4 2

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 Congenital Disorder Of Glycosylation, Type Iic and Spinocerebellar Ataxia 13. Among its related pathways are Potassium Channels and Transmission across Chemical Synapses. Gene Ontology (GO) annotations related to this gene include ion channel activity and potassium channel activity. An important paralog of this gene is KCNC3.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KCNC4 Gene

Genomics for KCNC4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KCNC4 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KCNC4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KCNC4

Top Transcription factor binding sites by QIAGEN in the KCNC4 gene promoter:
  • AP-1
  • c-Jun
  • NRSF form 1
  • NRSF form 2

Genomic Locations for KCNC4 Gene

Genomic Locations for KCNC4 Gene
chr1:110,210,314-110,283,100
(GRCh38/hg38)
Size:
72,787 bases
Orientation:
Plus strand
chr1:110,753,336-110,825,722
(GRCh37/hg19)
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).
    Miscellaneous:
    • [Isoform 2]: Could be a cloning artifact.

    Three dimensional structures from OCA and Proteopedia for KCNC4 Gene

    Alternative splice isoforms for KCNC4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KCNC4 Gene

Post-translational modifications for KCNC4 Gene

  • Phosphorylation of serine residues in the inactivation gate inhibits rapid channel closure.
  • Glycosylation at Asn256 and Asn265
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for KCNC4 Gene

Domains & Families for KCNC4 Gene

Gene Families for KCNC4 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Voltage-gated ion channels

Protein Domains for KCNC4 Gene

InterPro:
Blocks:
  • BTB/POZ domain
  • Potassium channel signature
  • Shaw voltage-gated K+ channel family signature
  • Kv3.4 voltage-gated K+ channel signature
ProtoNet:

Suggested Antigen Peptide Sequences for KCNC4 Gene

GenScript: Design optimal peptide antigens:
  • Voltage-gated potassium channel subunit Kv3.4 (KCNC4_HUMAN)

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

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.
GENATLAS Biochemistry:
potassium voltage-gated channel,Drosophila Shaw-related subfamily,member 4 (mouse Kv3.4 homolog)

Phenotypes From GWAS Catalog for KCNC4 Gene

Gene Ontology (GO) - Molecular Function for KCNC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity IEA --
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005249 voltage-gated potassium channel activity IEA,IBA 21873635
GO:0005251 delayed rectifier potassium channel activity IBA 21873635
GO:0005267 potassium channel activity TAS 1740329
genes like me logo Genes that share ontologies with KCNC4: view
genes like me logo Genes that share phenotypes with KCNC4: view

Animal Model Products

  • Taconic Biosciences Mouse Models for KCNC4

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCNC4

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KCNC4 gene
Compartment Confidence
plasma membrane 5
nucleus 3
cytosol 2
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoli (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KCNC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0008076 voltage-gated potassium channel complex IEA,IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IBA 21873635
GO:0030424 axon IBA 21873635
genes like me logo Genes that share ontologies with KCNC4: view

Pathways & Interactions for KCNC4 Gene

PathCards logo

SuperPathways 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
  • Dopamine-DARPP32 Feedback onto cAMP Pathway

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:0006813 potassium ion transport IEA,TAS 1920536
GO:0007268 chemical synaptic transmission TAS --
GO:0034765 regulation of ion transmembrane 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Potassium Approved, Experimental Pharma 0
Enflurane Approved, Investigational, Vet_approved Pharma Target, inhibitor, activator 2
Promethazine Approved, Investigational Pharma Target, inducer 470
phosphoserine Experimental Pharma Target 0
tetraethylammonium Experimental, Investigational Pharma Inhibitor, Pore Blocker, Antagonist, Inhibition 1

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sea anemone toxin BDS-I
Inhibitor
Kaliotoxin
145199-73-1

(4) Tocris Compounds for KCNC4 Gene

Compound Action Cas Number
Chromanol 293B IKs blocker. Also blocks ICFTR 163163-23-3
Flupirtine maleate KV7 channel activator 75507-68-5
Kaliotoxin KV and KCa blocker 145199-73-1
MaxiPost Potassium channel modulator; exerts subtype-specific effects 187523-35-9
genes like me logo Genes that share compounds with KCNC4: view

Transcripts for KCNC4 Gene

mRNA/cDNA for KCNC4 Gene

5 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCNC4

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

Expression for KCNC4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for KCNC4 Gene



Protein tissue co-expression partners for KCNC4 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KCNC4

SOURCE GeneReport for Unigene cluster for KCNC4 Gene:

Hs.153521

Evidence on tissue expression from TISSUES for KCNC4 Gene

  • Nervous system(4.7)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with KCNC4: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 30 31
  • 99.36 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia KCNC4 30 31
  • 92.46 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia KCNC4 30 31
  • 91.08 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia KCNC4 31
  • 90 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Kcnc4 30
  • 89.46 (n)
Mouse
(Mus musculus)
Mammalia Kcnc4 30 17 31
  • 89.13 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia KCNC4 31
  • 87 (a)
OneToOne
Chicken
(Gallus gallus)
Aves KCNC4 30 31
  • 78.29 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia KCNC4 31
  • 75 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia kcnc4 30
  • 70.54 (n)
Zebrafish
(Danio rerio)
Actinopterygii kcnc4 30 31
  • 71.06 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Shaw 32
  • 48 (a)
CG4450 32
  • 44 (a)
Worm
(Caenorhabditis elegans)
Secernentea shw-3 32
  • 42 (a)
Species where no ortholog for KCNC4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for KCNC4: view image

Paralogs for KCNC4 Gene

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

  • KCNC4_HUMAN
  • H7BZ66_HUMAN
genes like me logo Genes that share paralogs with KCNC4: view

Variants for KCNC4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KCNC4 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
736266 Likely Benign: not provided 110,223,071(+) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
rs12411176 - p.Cys520Tyr
rs35167146 - p.Asp318Tyr
rs59123361 - p.Arg516Gln

Additional dbSNP identifiers (rs#s) for KCNC4 Gene

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

Variant ID Type Subtype PubMed ID
esv991777 CNV deletion 20482838
nsv1075780 CNV duplication 25765185

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)

Additional Variant Information for KCNC4 Gene

Human Gene Mutation Database (HGMD)
KCNC4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCNC4

SNP Genotyping and Copy Number Assay Products

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

Disorders for KCNC4 Gene

MalaCards: The human disease database

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

- elite association - COSMIC cancer census association via MalaCards
Search KCNC4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for 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 KG (Genomics 1992) 2 3 23
  2. Cell cycle-dependent expression of Kv3.4 channels modulates proliferation of human uterine artery smooth muscle cells. (PMID: 20093253) Miguel-Velado E … Pérez-García MT (Cardiovascular research 2010) 3 23
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4
  4. Phosphorylation and protonation of neighboring MiRP2 sites: function and pathophysiology of MiRP2-Kv3.4 potassium channels in periodic paralysis. (PMID: 16449802) Abbott GW … Goldstein SA (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2006) 3 23
  5. International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels. (PMID: 16382104) Gutman GA … Wang X (Pharmacological reviews 2005) 2 3

Products for KCNC4 Gene

Sources for KCNC4 Gene