KCNV2 gene

potassium voltage-gated channel modifier subfamily V member 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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. This gene encodes a member of the potassium voltage-gated channel subfamily V. This member is identified as a 'silent subunit', and it does not form homomultimers, but forms heteromultimers with several other subfamily members. Through obligatory heteromerization, it exerts a function-altering effect on other potassium channel subunits. This protein is strongly expressed in pancreas and has a weaker expression in several other tissues. [provided by RefSeq, Jul 2008]

From UniProt:

Potassium channel subunit. Modulates channel activity by shifting the threshold and the half-maximal activation to more negative values.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Retinal cone dystrophy 3B

From UniProt:

Cone dystrophy retinal 3B (RCD3B): A rare form of cone dystrophy associated with supernormal rod responses. The disorder is characterized by reduced visual acuity, photoaversion, night blindness, and abnormal color vision. At an early age, the retina shows subtle depigmentation at the macula and, later, more obvious areas of atrophy. [MIM:610356]

Cytogenetic Location: 9p24.2, which is the short (p) arm of chromosome 9 at position 24.2

Molecular Location: base pairs 2,717,526 to 2,730,037 on chromosome 9 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 9p24.2, which is the short (p) arm of chromosome 9 at position 24.2
  • Kv8.2
  • KV11.1
  • RCD3B