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Gene Review

KCNAB2  -  potassium channel, voltage gated subfamily...

Homo sapiens

Synonyms: AKR6A5, HKvbeta2, HKvbeta2.1, HKvbeta2.2, K(+) channel subunit beta-2, ...
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Disease relevance of KCNAB2


High impact information on KCNAB2

  • We report here the cloning of a voltage-gated K+ channel beta subunit, hKv beta 3, from adult human left ventricle that shows 84% and 74% amino acid sequence identity with the previously cloned rat Kv beta 1 and Kv beta 2 subunits, respectively [2].
  • Kv beta1.1 and Kv beta 2 point mutants lacking a key catalytic tyrosine residue found in the active site of all aldo-keto reductases have wild-type trafficking characteristics [3].
  • The crystallographic structure of the Kv beta2 subunit revealed surprising structural homology with aldo-keto reductases, including a triosephosphate isomerase barrel structure, conservation of key catalytic residues, and a bound NADP(+) cofactor (Gulbis, J. M., Mann, S., and MacKinnon, R. (1999) Cell 90, 943-952) [3].
  • The SHREW1 and KCNAB2 genes both had tissue-restricted expression patterns, including expression in the nervous system [4].
  • The human tandem P domain K+ channel hTREK-1 (KCNK2) is distributed widely through the CNS [5].

Biological context of KCNAB2

  • The human Kv beta 1.2 gene (KCNA2B) resides on chromosome 1, as indicated by somatic cell hybrid mapping, and has been localized by FISH to 1p36.3 [6].
  • Because ion channels are important determinants of seizure susceptibility and the voltage-gated K(+) channel beta-subunit gene, KCNAB2, has been localized to 1p36, we propose that deletion of this gene may be associated with the epilepsy phenotype [1].
  • Hemizygosity of this gene in a majority of monosomy 1p36 syndrome patients with epilepsy suggests that haploinsufficiency for KCNAB2 is a significant risk factor for epilepsy [1].

Other interactions of KCNAB2

  • Loss of the potassium channel beta-subunit gene, KCNAB2, is associated with epilepsy in patients with 1p36 deletion syndrome [1].

Analytical, diagnostic and therapeutic context of KCNAB2


  1. Loss of the potassium channel beta-subunit gene, KCNAB2, is associated with epilepsy in patients with 1p36 deletion syndrome. Heilstedt, H.A., Burgess, D.L., Anderson, A.E., Chedrawi, A., Tharp, B., Lee, O., Kashork, C.D., Starkey, D.E., Wu, Y.Q., Noebels, J.L., Shaffer, L.G., Shapira, S.K. Epilepsia (2001) [Pubmed]
  2. Characterization of a voltage-gated K+ channel beta subunit expressed in human heart. England, S.K., Uebele, V.N., Shear, H., Kodali, J., Bennett, P.B., Tamkun, M.M. Proc. Natl. Acad. Sci. U.S.A. (1995) [Pubmed]
  3. Kv beta subunit oxidoreductase activity and Kv1 potassium channel trafficking. Campomanes, C.R., Carroll, K.I., Manganas, L.N., Hershberger, M.E., Gong, B., Antonucci, D.E., Rhodes, K.J., Trimmer, J.S. J. Biol. Chem. (2002) [Pubmed]
  4. Definition and characterization of a region of 1p36.3 consistently deleted in neuroblastoma. White, P.S., Thompson, P.M., Gotoh, T., Okawa, E.R., Igarashi, J., Kok, M., Winter, C., Gregory, S.G., Hogarty, M.D., Maris, J.M., Brodeur, G.M. Oncogene (2005) [Pubmed]
  5. Acute hypoxia occludes hTREK-1 modulation: re-evaluation of the potential role of tandem P domain K+ channels in central neuroprotection. Miller, P., Kemp, P.J., Lewis, A., Chapman, C.G., Meadows, H.J., Peers, C. J. Physiol. (Lond.) (2003) [Pubmed]
  6. Localization of two potassium channel beta subunit genes, KCNA1B and KCNA2B. Schultz, D., Litt, M., Smith, L., Thayer, M., McCormack, K. Genomics (1996) [Pubmed]
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