Bioinformatics Database
CACNB2: Calcium voltage-gated channel auxiliary subunit beta 2
3D Protein Structure Viewer
Cellular Process
Tooth Eruption
Gene Name
CACNB2: Calcium voltage-gated channel auxiliary subunit beta 2
Gene ID
783
Gene Sequence
General Description
This gene encodes a subunit of a voltage-dependent calcium channel protein that is a member of the voltage-gated calcium channel superfamily. The gene product was originally identified as an antigen target in Lambert-Eaton myasthenic syndrome, an autoimmune disorder.
Alternative titles; symbols
Ca(V) BETA-2; CAVB2 MYASTHENIC SYNDROME ANTIGEN B; MYSB LAMBERT-EATON MYASTHENIC SYNDROME ANTIGEN
Chromosome
Chromosome 10
Cytogenetic location
10p12.33-p12.31
Encoded Protein
Voltage-dependent L-type calcium channel subunit beta-2 isoform 2
Function of the protein in oral and tooth development
Fatemifar et al.,(2013) conducted genome-wide association study and report genetic variants at 15 loci associated with primary tooth eruption at genome-wide significant levels, including 8 novel variants within or near the following genes: BMP4, CACNB2, CDON, CALU/OPN1SW, AJUBA/C14orf93, DLEU7, TEX14/RAD51C and ADK.
Dental and Oral Diseases
Protein Sequence
>NP_963890.2 voltage-dependent L-type calcium channel subunit beta-2 isoform 2 [Homo sapiens]
MVQRDMSKSPPTAAAAVAQEIQMELLENVAPAGALGAAAQSYGKGARRKNRFKGSDGSTSSDTTSNSFVR
QGSADSYTSRPSDSDVSLEEDREAVRREAERQAQAQLEKAKTKPVAFAVRTNVSYSAAHEDDVPVPGMAI
SFEAKDFLHVKEKFNNDWWIGRLVKEGCEIGFIPSPVKLENMRLQHEQRAKQGKFYSSKSGGNSSSSLGD
IVPSSRKSTPPSSAIDIDATGLDAEENDIPANHRSPKPSANSVTSPHSKEKRMPFFKKTEHTPPYDVVPS
MRPVVLVGPSLKGYEVTDMMQKALFDFLKHRFEGRISITRVTADISLAKRSVLNNPSKHAIIERSNTRSS
LAEVQSEIERIFELARTLQLVVLDADTINHPAQLSKTSLAPIIVYVKISSPKVLQRLIKSRGKSQAKHLN
VQMVAADKLAQCPPELFDVILDENQLEDACEHLADYLEAYWKATHPPSSSLPNPLLSRTLATSSLPLSPT
LASNSQGSQGDQRTDRSAPIRSASQAEEEPSVEPVKKSQHRSSSSAPHHNHRSGTSRGLSRQETFDSETQ
ESRDSAYVEPKEDYSHDHVDHYASHRDHNHRDETHGSSDHRHRESRHRSRDVDREQDHNECNKQRSRHKS
KDRYCEKDGEVISKKRNEAGEWNRDVYIRQ
Mutations
Related Literature
Fatemifar et al.,(2013). https://doi.org/10.1093/hmg/ddt231
