Potassium Channel, Voltage-Gated, SHAB-Related Subfamily, Member 1

Alternative Names

  • KCNB1
  • Kv2.1
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OMIM Number

600397

NCBI Gene ID

3745

Uniprot ID

Q14721

Length

119,486 bases

No. of Exons

3

No. of isoforms

1

Protein Name

Potassium voltage-gated channel subfamily B member 1

Molecular Mass

95878 Da

Amino Acid Count

858

Genomic Location

chr20:49,363,876-49,483,361

Gene Map Locus
20q13.13

Description

Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shab-related subfamily. This member is a delayed rectifier potassium channel and its activity is modulated by some other family members. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_004975.3:c.568-12709T>CUnited Arab EmiratesNC_000020.11:g.49387701A>GNG_041781.2:g.99944T>C; NM_004975.3:c.568-12709T>C; NP_004966.1:p.?237485
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