| Transporter Information: | |
| Name: | calcium channel, voltage-dependent, beta 2 subunit |
|---|---|
| Symbol: | CACNB2 |
| Locations: | 10p12 |
| GenBank: | U95019 |
| Swiss-Prot: | Q08289 |
| Accession Number: | NM_000724 |
| GDB | GDB:132014 |
| LocusLink | 783 |
| OMIM | 600003 |
| PubMed (9254841): | Taviaux S, Williams ME, Harpold MM, Nargeot J, Lory P. Assignment of human genes for beta 2 and beta 4 subunits of voltage-dependentCa2+ channels to chromosomes 10p12 and 2q22-q23.Hum Genet. 1997 Aug;100(2):151-4. PMID: 9254841 [PubMed - indexed for MEDLINE] 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. |
| PubMed (8494331): | Rosenfeld MR, Wong E, Dalmau J, Manley G, Posner JB, Sher E, Furneaux HM. Cloning and characterization of a Lambert-Eaton myasthenic syndrome antigen.Ann Neurol. 1993 Jan;33(1):113-20. PMID: 8494331 [PubMed - indexed for MEDLINE] Lambert-Eaton myasthenic syndrome is a paraneoplastic neuromuscular disorder in which an immune response directed against a small-cell lung tumor crossreacts with antigens in the neuromuscular junction. To isolate and characterize the antigens, we screened a human fetal brain expression library with a high-titer serum from a patient with Lambert-Eaton myasthenic syndrome. This screening resulted in the isolation of a complementary DNA clone encoding an antigen we call myasthenic syndrome antigen B (MysB). Approximately 43% (3 of 7) of Lambert-Eaton myasthenic syndrome sera specifically recognized MysB fusion protein, whereas none of 34 control sera did. The predicted amino acid sequence of this clone shows a high degree of homology to the beta subunit of calcium channel complexes. The MysB pre-messenger RNA is alternatively spliced to yield 3 forms of the protein differing in the domain between two highly conserved alpha-helical segments. |
>Q08289|CACB2_HUMAN Voltage-dependent L-type calcium channel subunit beta-2 - Homo sapiens (Human). MVQRDMSKSPPTAAAAVAQEIQMELLENVAPAGALGAAAQSYGKGARRKNRFKGSDGSTSSDTTSNSFVRQGSADSYTSR PSDSDVSLEEDREAVRREAERQAQAQLEKAKTKPVAFAVRTNVSYSAAHEDDVPVPGMAISFEAKDFLHVKEKFNNDWWI GRLVKEGCEIGFIPSPVKLENMRLQHEQRAKQGKFYSSKSGGNSSSSLGDIVPSSRKSTPPSSAIDIDATGLDAEENDIP ANHRSPKPSANSVTSPHSKEKRMPFFKKTEHTPPYDVVPSMRPVVLVGPSLKGYEVTDMMQKALFDFLKHRFEGRISITR VTADISLAKRSVLNNPSKHAIIERSNTRSSLAEVQSEIERIFELARTLQLVVLDADTINHPAQLSKTSLAPIIVYVKISS PKVLQRLIKSRGKSQAKHLNVQMVAADKLAQCPPELFDVILDENQLEDACEHLADYLEAYWKATHPPSSSLPNPLLSRTL ATSSLPLSPTLASNSQGSQGDQRTDRSAPIRSASQAEEEPSVEPVKKSQHRSSSSAPHHNHRSGTSRGLSRQETFDSETQ ESRDSAYVEPKEDYSHDHVDHYASHRDHNHRDETHGSSDHRHRESRHRSRDVDREQDHNECNKQRSRHKSKDRYCEKDGE VISKKRNEAGEWNRDVYIRQ | |