Assignment of human genes for beta 2 and beta 4 subunits of voltage-dependent Ca2+ channels to chromosomes 10p12 and 2q22-q23.
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.
Taviaux
S
S
CRBM-CNRS, BP 5051-1919, Montpellier, France.
Williams
M E
ME
Harpold
M M
MM
Nargeot
J
J
Lory
P
P
D015220:Calcium Channels / Q000235:genetics*; D020746:Calcium Channels, L-Type; D018288:Carcinoma, Small Cell / Q000235:genetics; D002874:Chromosome Mapping; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics*; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D004560:Electricity; D005796:Genes; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D015640:Ion Channel Gating; D015624:Lambert-Eaton Myasthenic Syndrome / Q000235:genetics; D008175:Lung Neoplasms / Q000235:genetics; D008969:Molecular Sequence Data
C107597:CACNB2 protein, human; C107598:CACNB4 protein, human; D015220:Calcium Channels; D020746:Calcium Channels, L-Type