Potassium Channel, Voltage-Gated, KQT-Like Subfamily, Member 2

Alternative Names

  • KCNQ2
  • Potassium Channel, Voltage-Gated, Subfamily Q, Member 2
Back to search Result
OMIM Number

602235

NCBI Gene ID

3785

Uniprot ID

O43526

Length

72,470 bases

No. of Exons

19

No. of isoforms

6

Protein Name

Potassium Voltage-Gated Channel Subfamily KQT Member 2

Molecular Mass

95848 Da

Amino Acid Count

872

Genomic Location

chr20:63,400,207-63,472,654

Gene Map Locus
20q13.33

Description

The KCNQ2 gene encodes alpha-subunits of the potassium voltage-gated Kv7.2 channels, which are present in higher numbers at axonal initial segments and at nodes of Ranvier in the central nervous system. These channels transport potassium ions out of cells and in thus doing; they transmit a particular type of electrical signal called the M-current. The latter plays a key role in determining the subthreshold of electroexcitability of neurons as well as the responsiveness to synaptic inputs. Therefore, it ensures that the neuron is not constantly active, or excitable.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_172107.4:c.1126delUnited Arab EmiratesNC_000020.11:g.63431364delLikely PathogenicSeizures, Benign Familial Neonatal, 1NG_009004.2:g.46279del; NM_172107.4:c.1126del; NP_742105.1:p.Thr376LeufsTer131057516113369786
© CAGS 2024. All rights reserved.