Biomaterial Database

Assignment of human genes for beta 2 and beta 4 subunits of voltage-dependent Ca2+ channels to chromosomes 10p12 and 2q22-q23. 1997

S Taviaux, and M E Williams, and M M Harpold, and J Nargeot, and P Lory

CRBM-CNRS, BP 5051-1919, Montpellier, France.

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.

UI	MeSH Term	Description	Entries
D008175	Lung Neoplasms	Tumors or cancer of the LUNG.	Cancer of Lung,Lung Cancer,Pulmonary Cancer,Pulmonary Neoplasms,Cancer of the Lung,Neoplasms, Lung,Neoplasms, Pulmonary,Cancer, Lung,Cancer, Pulmonary,Cancers, Lung,Cancers, Pulmonary,Lung Cancers,Lung Neoplasm,Neoplasm, Lung,Neoplasm, Pulmonary,Pulmonary Cancers,Pulmonary Neoplasm
D008969	Molecular Sequence Data	Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.	Sequence Data, Molecular,Molecular Sequencing Data,Data, Molecular Sequence,Data, Molecular Sequencing,Sequencing Data, Molecular
D002874	Chromosome Mapping	Any method used for determining the location of and relative distances between genes on a chromosome.	Gene Mapping,Linkage Mapping,Genome Mapping,Chromosome Mappings,Gene Mappings,Genome Mappings,Linkage Mappings,Mapping, Chromosome,Mapping, Gene,Mapping, Genome,Mapping, Linkage,Mappings, Chromosome,Mappings, Gene,Mappings, Genome,Mappings, Linkage
D002879	Chromosomes, Human, Pair 10	A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.	Chromosome 10
D002889	Chromosomes, Human, Pair 2	A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.	Chromosome 2
D004560	Electricity	The physical effects involving the presence of electric charges at rest and in motion.
D005796	Genes	A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms.	Cistron,Gene,Genetic Materials,Cistrons,Genetic Material,Material, Genetic,Materials, Genetic
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D015220	Calcium Channels	Voltage-dependent cell membrane glycoproteins selectively permeable to calcium ions. They are categorized as L-, T-, N-, P-, Q-, and R-types based on the activation and inactivation kinetics, ion specificity, and sensitivity to drugs and toxins. The L- and T-types are present throughout the cardiovascular and central nervous systems and the N-, P-, Q-, & R-types are located in neuronal tissue.	Ion Channels, Calcium,Receptors, Calcium Channel Blocker,Voltage-Dependent Calcium Channel,Calcium Channel,Calcium Channel Antagonist Receptor,Calcium Channel Antagonist Receptors,Calcium Channel Blocker Receptor,Calcium Channel Blocker Receptors,Ion Channel, Calcium,Receptors, Calcium Channel Antagonist,VDCC,Voltage-Dependent Calcium Channels,Calcium Channel, Voltage-Dependent,Calcium Channels, Voltage-Dependent,Calcium Ion Channel,Calcium Ion Channels,Channel, Voltage-Dependent Calcium,Channels, Voltage-Dependent Calcium,Voltage Dependent Calcium Channel,Voltage Dependent Calcium Channels
D015624	Lambert-Eaton Myasthenic Syndrome	An autoimmune disease characterized by weakness and fatigability of proximal muscles, particularly of the pelvic girdle, lower extremities, trunk, and shoulder girdle. There is relative sparing of extraocular and bulbar muscles. CARCINOMA, SMALL CELL of the lung is a frequently associated condition, although other malignancies and autoimmune diseases may be associated. Muscular weakness results from impaired impulse transmission at the NEUROMUSCULAR JUNCTION. Presynaptic calcium channel dysfunction leads to a reduced amount of acetylcholine being released in response to stimulation of the nerve. (From Adams et al., Principles of Neurology, 6th ed, pp 1471)	Eaton-Lambert Syndrome,Myasthenic Syndrome, Lambert-Eaton,Eaton-Lambert Myasthenic Syndrome,Lambert-Eaton Syndrome,Myasthenic-Myopathic Syndrome of Eaton-Lambert,Myasthenic-Myopathic Syndrome of Lambert-Eaton,Myopathic-Myasthenic Syndrome of Eaton-Lambert,Myopathic-Myasthenic Syndrome of Lambert-Eaton,Eaton Lambert Myasthenic Syndrome,Eaton Lambert Syndrome,Eaton-Lambert Myasthenic-Myopathic Syndrome,Eaton-Lambert Myopathic-Myasthenic Syndrome,Eaton-Lambert Myopathic-Myasthenic Syndromes,Lambert Eaton Myasthenic Syndrome,Lambert Eaton Syndrome,Lambert-Eaton Myasthenic-Myopathic Syndrome,Lambert-Eaton Myasthenic-Myopathic Syndromes,Lambert-Eaton Myopathic-Myasthenic Syndrome,Lambert-Eaton Myopathic-Myasthenic Syndromes,Myasthenic Myopathic Syndrome of Eaton Lambert,Myasthenic Myopathic Syndrome of Lambert Eaton,Myasthenic Syndrome, Eaton-Lambert,Myasthenic Syndrome, Lambert Eaton,Myopathic Myasthenic Syndrome of Eaton Lambert,Syndrome, Eaton-Lambert,Syndrome, Eaton-Lambert Myasthenic,Syndrome, Lambert-Eaton,Syndrome, Lambert-Eaton Myasthenic