Assignment of human genes for beta 2 and beta 4 subunits of voltage-dependent Ca2+ channels to chromosomes 10p12 and 2q22-q23

Hum Genet. 1997 Aug;100(2):151-4. doi: 10.1007/pl00008704.

Abstract

We have used human beta 2 and beta 4 cDNA probes to map the genes encoding two isoforms of the regulatory beta subunit of voltage-activated Ca2+ channels, viz. CACNB2 (beta 2) and CACNB4 (beta 4), to human chromosomes 10p12 and 2q22-q23, respectively, by fluorescence in situ hybridization. The gene encoding the beta 2 protein, first described as a Lambert-Eaton myasthenic syndrome (LEMS) antigen in humans, is found close to a region that undergoes chromosome rearrangements in small cell lung cancer, which occurs in association with LEMS. CACNB2 (beta 2) and CACNB4 (beta 4) genes are members of the ion-channel gene superfamily and it should now be possible to examine their loci by linkage analysis of ion-channel-related disorders. To date, no such disease-related gene has been assigned to 10p12 and 2q22-q23.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Calcium Channels / genetics*
  • Calcium Channels, L-Type*
  • Carcinoma, Small Cell / genetics
  • Chromosome Mapping
  • Chromosomes, Human, Pair 10 / genetics*
  • Chromosomes, Human, Pair 2 / genetics*
  • Electricity
  • Genes
  • Humans
  • In Situ Hybridization, Fluorescence
  • Ion Channel Gating
  • Lambert-Eaton Myasthenic Syndrome / genetics
  • Lung Neoplasms / genetics
  • Molecular Sequence Data

Substances

  • CACNB2 protein, human
  • CACNB4 protein, human
  • Calcium Channels
  • Calcium Channels, L-Type

Associated data

  • GENBANK/U95020