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KvLQT3

From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
KCNQ3
Identifiers
AliasesKCNQ3, BFNC2, EBN2, KV7.3, potassium voltage-gated channel subfamily Q member 3
External IDsOMIM:602232;MGI:1336181;HomoloGene:20949;GeneCards:KCNQ3;OMA:KCNQ3 - orthologs
Gene location (Human)
Chromosome 8 (human)
Chr.Chromosome 8 (human)[1]
Chromosome 8 (human)
Genomic location for KCNQ3
Genomic location for KCNQ3
Band8q24.22Start132,120,859bp[1]
End132,481,095bp[1]
Gene location (Mouse)
Chromosome 15 (mouse)
Chr.Chromosome 15 (mouse)[2]
Chromosome 15 (mouse)
Genomic location for KCNQ3
Genomic location for KCNQ3
Band15 D1|15 29.16 cMStart65,858,236bp[2]
End66,158,491bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • ganglionic eminence

  • lateral nuclear group of thalamus

  • Brodmann area 23

  • pars compacta

  • endothelial cell

  • Pons

  • middle temporal gyrus

  • postcentral gyrus

  • pars reticulata

  • entorhinal cortex
Top expressed in
  • medial geniculate nucleus

  • lateral geniculate nucleus

  • medial dorsal nucleus

  • piriform cortex

  • olfactory tubercle

  • primary motor cortex

  • globus pallidus

  • cingulate gyrus

  • ventromedial nucleus

  • Temporal Lobe
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
Entrez

3786

110862

Ensembl

ENSG00000184156

ENSMUSG00000056258

UniProt

O43525

Q8K3F6

RefSeq (mRNA)

NM_001204824
NM_004519

NM_152923

RefSeq (protein)

NP_001191753
NP_004510

NP_690887

Location (UCSC)Chr 8: 132.12 – 132.48 MbChr 15: 65.86 – 66.16 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Kv7.3 (KvLQT3) is apotassiumchannelprotein coded for by thegene KCNQ3.[5]

It is associated withbenign familial neonatal epilepsy.

The M channel is a slowly activating and deactivating potassium channel that plays a critical role in the regulation of neuronal excitability. The M channel is formed by the association of the protein encoded by this gene and one of two related proteins encoded by the KCNQ2 and KCNQ5 genes, both integral membrane proteins. M channel currents are inhibited by M1 muscarinic acetylcholine receptors and activated byretigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 2 (BFNC2), also known as epilepsy, benign neonatal type 2 (EBN2).[5]

Interactions

[edit]

KvLQT3 has been shown tointeract withKCNQ5.[6]

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000184156Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000056258Ensembl, 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. ^ab"Entrez Gene: KCNQ3 potassium voltage-gated channel, KQT-like subfamily, member 3".
  6. ^Yus-Nájera, E; Muñoz A; Salvador N; Jensen B S; Rasmussen H B; Defelipe J; Villarroel A (2003). "Localization of KCNQ5 in the normal and epileptic human temporal neocortex and hippocampal formation".Neuroscience.120 (2):353–64.doi:10.1016/S0306-4522(03)00321-X.ISSN 0306-4522.PMID 12890507.S2CID 38381189.

Further reading

[edit]

External links

[edit]

This article incorporates text from theUnited States National Library of Medicine, which is in thepublic domain.


Ligand-gated
Voltage-gated
Constitutively active
Proton-gated
Voltage-gated
Calcium-activated
Inward-rectifier
Tandem pore domain
Voltage-gated
Miscellaneous
Cl:Chloride channel
H+:Proton channel
M+:CNG cation channel
M+:TRP cation channel
H2O (+solutes):Porin
Cytoplasm:Gap junction
By gating mechanism
Ion channel class
see alsodisorders
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