KCNC3

Last updated
KCNC3
Identifiers
Aliases KCNC3 , KSHIIID, KV3.3, SCA13, potassium voltage-gated channel subfamily C member 3
External IDs OMIM: 176264 MGI: 96669 HomoloGene: 3650 GeneCards: KCNC3
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_004977
NM_001372305

NM_001290682
NM_008422

RefSeq (protein)

NP_004968
NP_001359234

Location (UCSC) Chr 19: 50.31 – 50.33 Mb Chr 7: 44.59 – 44.6 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Potassium voltage-gated channel, Shaw-related subfamily, member 3 also known as KCNC3 or Kv3.3 is a protein that in humans is encoded by the KCNC3. [5]

Function

The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and comprises 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. [6] [7] [8]

Clinical significance

KCNC3 is associated with spinocerebellar ataxia type 13. [9]

See also

Related Research Articles

Kv1.1

Potassium voltage-gated channel subfamily A member 1 also known as Kv1.1 is a shaker related voltage-gated potassium channel that in humans is encoded by the KCNA1 gene. The Isaacs syndrome is a result of an autoimmune reaction against the Kv1.1 ion channel.

Spinocerebellar ataxia type-13 Medical condition

Spinocerebellar ataxia type 13 (SCA13) is a rare autosomal dominant disorder, which, like other types of SCA, is characterized by dysarthria, nystagmus, and ataxia of gait, stance and the limbs due to cerebellar dysfunction. Patients with SCA13 also tend to present with epilepsy, an inability to run, and increased reflexes. This cerebellar dysfunction is permanent and progressive. SCA13 is caused by mutations in KCNC3, a gene encoding a voltage-gated potassium channel KV3.3. There are two known mutations in this gene causative for SCA13. Unlike many other types of SCA, these are not polyglutamine expansions but, rather, point mutations resulting in channels with no current or altered kinetics.

KCND2 Protein-coding gene in the species Homo sapiens

Potassium voltage-gated channel subfamily D member 2 is a protein that in humans is encoded by the KCND2 gene. It contributes to the cardiac transient outward potassium current (Ito1), the main contributing current to the repolarizing phase 1 of the cardiac action potential.

KCNA2

Potassium voltage-gated channel subfamily A member 2 also known as Kv1.2 is a protein that in humans is encoded by the KCNA2 gene.

KCNA4

Potassium voltage-gated channel subfamily A member 4 also known as Kv1.4 is a protein that in humans is encoded by the KCNA4 gene. It contributes to the cardiac transient outward potassium current (Ito1), the main contributing current to the repolarizing phase 1 of the cardiac action potential.

KCND3

Potassium voltage-gated channel subfamily D member 3 also known as Kv4.3 is a protein that in humans is encoded by the KCND3 gene. It contributes to the cardiac transient outward potassium current (Ito1), the main contributing current to the repolarizing phase 1 of the cardiac action potential.

KCNAB2

Voltage-gated potassium channel subunit beta-2 is a protein that in humans is encoded by the KCNAB2 gene.

KCNC4

Potassium voltage-gated channel, Shaw-related subfamily, member 4 (KCNC4), also known as Kv3.4, is a human gene.

KCNS3

Potassium voltage-gated channel subfamily S member 3 (Kv9.3) is a protein that in humans is encoded by the KCNS3 gene. KCNS3 gene belongs to the S subfamily of the potassium channel family. It is highly expressed in pulmonary artery myocytes, placenta, and parvalbumin-containing GABA neurons in brain cortex. In humans, single-nucleotide polymorphisms of the KCNS3 gene are associated with airway hyperresponsiveness, whereas decreased KCNS3 mRNA expression is found in the prefrontal cortex of patients with schizophrenia.

KCNC1

Potassium voltage-gated channel subfamily C member 1 is a protein that in humans is encoded by the KCNC1 gene.

KCNG1

Potassium voltage-gated channel subfamily G member 1 is a protein that in humans is encoded by the KCNG1 gene.

KCNA6

Potassium voltage-gated channel subfamily A member 6 also known as Kv1.6 is a protein that in humans is encoded by the KCNA6 gene. The protein encoded by this gene is a voltage-gated potassium channel subunit.

KCNA7

Potassium voltage-gated channel subfamily A member 7 also known as Kv1.7 is a protein that in humans is encoded by the KCNA7 gene. The protein encoded by this gene is a voltage-gated potassium channel subunit. It may contribute to the cardiac transient outward potassium current (Ito1), the main contributing current to the repolarizing phase 1 of the cardiac action potential.

KCNA10

Potassium voltage-gated channel subfamily A member 10 also known as Kv1.8 is a protein that in humans is encoded by the KCNA10 gene. The protein encoded by this gene is a voltage-gated potassium channel subunit.

KCNB2

Potassium voltage-gated channel subfamily B member 2 is a protein that in humans is encoded by the KCNB2 gene. The protein encoded by this gene is a voltage-gated potassium channel subunit.

KCNC2

Potassium voltage-gated channel subfamily C member 2 is a protein that in humans is encoded by the KCNC2 gene. The protein encoded by this gene is a voltage-gated potassium channel subunit (Kv3.2).

KCNG2

Potassium voltage-gated channel subfamily G member 2 is a protein that in humans is encoded by the KCNG2 gene. The protein encoded by this gene is a voltage-gated potassium channel subunit.

KCNG3

Potassium voltage-gated channel subfamily G member 3 is a protein that in humans is encoded by the KCNG3 gene. The protein encoded by this gene is a voltage-gated potassium channel subunit.

KCNG4

Potassium voltage-gated channel subfamily G member 4 is a protein that in humans is encoded by the KCNG4 gene. The protein encoded by this gene is a voltage-gated potassium channel subunit.

KCNV1

Potassium voltage-gated channel subfamily V member 1 is a protein that in humans is encoded by the KCNV1 gene. The protein encoded by this gene is a voltage-gated potassium channel subunit.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000131398 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000062785 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Ghanshani S, Pak M, McPherson JD, Strong M, Dethlefs B, Wasmuth JJ, Salkoff L, Gutman GA, Chandy KG (February 1992). "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". Genomics. 12 (2): 190–6. doi:10.1016/0888-7543(92)90365-Y. PMID   1740329.
  6. "Entrez Gene: potassium voltage-gated channel".
  7. Haas M, Ward DC, Lee J, Roses AD, Clarke V, D'Eustachio P, Lau D, Vega-Saenz de Miera E, Rudy B (December 1993). "Localization of Shaw-related K+ channel genes on mouse and human chromosomes". Mamm. Genome. 4 (12): 711–5. doi:10.1007/BF00357794. PMID   8111118. S2CID   24121259.
  8. Gutman GA, Chandy KG, Grissmer S, Lazdunski M, McKinnon D, Pardo LA, Robertson GA, Rudy B, et al. (December 2005). "International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels". Pharmacol. Rev. 57 (4): 473–508. doi:10.1124/pr.57.4.10. PMID   16382104. S2CID   219195192.
  9. Waters MF, Pulst SM (2008). "Sca13". Cerebellum. 7 (2): 165–9. doi:10.1007/s12311-008-0039-7. PMID   18592334. S2CID   62781954.

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.