LOCUS       NP_963890                660 aa            linear   PRI 29-APR-2025
DEFINITION  voltage-dependent L-type calcium channel subunit beta-2 isoform 2
            [Homo sapiens].
ACCESSION   NP_963890
VERSION     NP_963890.2
DBSOURCE    REFSEQ: accession NM_201596.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 660)
  AUTHORS   Zhong,R., Zhang,F., Yang,Z., Li,Y., Xu,Q., Lan,H., Cyganek,L.,
            El-Battrawy,I., Zhou,X., Akin,I. and Borggrefe,M.
  TITLE     Epigenetic mechanism of L-type calcium channel beta-subunit
            downregulation in short QT human induced pluripotent stem
            cell-derived cardiomyocytes with CACNB2 mutation
  JOURNAL   Europace 24 (12), 2028-2036 (2022)
   PUBMED   35894107
  REMARK    GeneRIF: Epigenetic mechanism of L-type calcium channel
            beta-subunit downregulation in short QT human induced pluripotent
            stem cell-derived cardiomyocytes with CACNB2 mutation.
REFERENCE   2  (residues 1 to 660)
  AUTHORS   Xin,Q., Xin,G., Li,L., Sun,W., Jiang,W., Wang,J., Luan,Y.,
            Zhang,Y., Cheng,L., Duan,S., Hong,F., Ji,Q. and Ma,W.
  TITLE     Association study of hypertension susceptibility genes ITGA9,
            MOV10, and CACNB2 with preeclampsia in Chinese Han population
  JOURNAL   J Matern Fetal Neonatal Med 35 (25), 5227-5235 (2022)
   PUBMED   33491517
  REMARK    GeneRIF: Association study of hypertension susceptibility genes
            ITGA9, MOV10, and CACNB2 with preeclampsia in Chinese Han
            population.
REFERENCE   3  (residues 1 to 660)
  AUTHORS   Martins,H.C., Gilardi,C., Sungur,A.O., Winterer,J., Pelzl,M.A.,
            Bicker,S., Gross,F., Kisko,T.M., Malikowska-Racia,N., Braun,M.D.,
            Brosch,K., Nenadic,I., Stein,F., Meinert,S., Schwarting,R.K.W.,
            Dannlowski,U., Kircher,T., Wohr,M. and Schratt,G.
  TITLE     Bipolar-associated miR-499-5p controls neuroplasticity by
            downregulating the Cav1.2 subunit CACNB2
  JOURNAL   EMBO Rep 23 (10), e54420 (2022)
   PUBMED   35969184
  REMARK    GeneRIF: Bipolar-associated miR-499-5p controls neuroplasticity by
            downregulating the Cav1.2 subunit CACNB2.
REFERENCE   4  (residues 1 to 660)
  AUTHORS   Zhong,R., Schimanski,T., Zhang,F., Lan,H., Hohn,A., Xu,Q.,
            Huang,M., Liao,Z., Qiao,L., Yang,Z., Li,Y., Zhao,Z., Li,X.,
            Rose,L., Albers,S., Maywald,L., Muller,J., Dinkel,H., Saguner,A.,
            Janssen,J.W.G., Swamy,N., Xi,Y., Lang,S., Kleinsorge,M., Duru,F.,
            Zhou,X., Diecke,S., Cyganek,L., Akin,I. and El-Battrawy,I.
  TITLE     A Preclinical Study on Brugada Syndrome with a CACNB2 Variant Using
            Human Cardiomyocytes from Induced Pluripotent Stem Cells
  JOURNAL   Int J Mol Sci 23 (15), 8313 (2022)
   PUBMED   35955449
  REMARK    GeneRIF: A Preclinical Study on Brugada Syndrome with a CACNB2
            Variant Using Human Cardiomyocytes from Induced Pluripotent Stem
            Cells.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 660)
  AUTHORS   Westhoff,M. and Dixon,R.E.
  TITLE     Mechanisms and Regulation of Cardiac CaV1.2 Trafficking
  JOURNAL   Int J Mol Sci 22 (11), 5927 (2021)
   PUBMED   34072954
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 660)
  AUTHORS   Brust,P.F., Simerson,S., McCue,A.F., Deal,C.R., Schoonmaker,S.,
            Williams,M.E., Velicelebi,G., Johnson,E.C., Harpold,M.M. and
            Ellis,S.B.
  TITLE     Human neuronal voltage-dependent calcium channels: studies on
            subunit structure and role in channel assembly
  JOURNAL   Neuropharmacology 32 (11), 1089-1102 (1993)
   PUBMED   8107964
REFERENCE   7  (residues 1 to 660)
  AUTHORS   Rosenfeld,M.R., Wong,E., Dalmau,J., Manley,G., Egan,D.,
            Posner,J.B., Sher,E. and Furneaux,H.M.
  TITLE     Sera from patients with Lambert-Eaton myasthenic syndrome recognize
            the beta-subunit of Ca2+ channel complexes
  JOURNAL   Ann N Y Acad Sci 681, 408-411 (1993)
   PUBMED   8395157
REFERENCE   8  (residues 1 to 660)
  AUTHORS   Rosenfeld,M.R., Wong,E., Dalmau,J., Manley,G., Posner,J.B., Sher,E.
            and Furneaux,H.M.
  TITLE     Cloning and characterization of a Lambert-Eaton myasthenic syndrome
            antigen
  JOURNAL   Ann Neurol 33 (1), 113-120 (1993)
   PUBMED   8494331
REFERENCE   9  (residues 1 to 660)
  AUTHORS   Brugada,R., Campuzano,O., Sarquella-Brugada,G., Brugada,P.,
            Brugada,J. and Hong,K.
  TITLE     Brugada Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301690
REFERENCE   10 (residues 1 to 660)
  AUTHORS   Williams,M.E., Feldman,D.H., McCue,A.F., Brenner,R., Velicelebi,G.,
            Ellis,S.B. and Harpold,M.M.
  TITLE     Structure and functional expression of alpha 1, alpha 2, and beta
            subunits of a novel human neuronal calcium channel subtype
  JOURNAL   Neuron 8 (1), 71-84 (1992)
   PUBMED   1309651
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL360231.16, S60415.1 and
            AL450384.34.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 22, 2007 this sequence version replaced NP_963890.1.
            
            Summary: 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. Mutations in this gene are associated with
            Brugada syndrome. Alternatively spliced variants encoding different
            isoforms have been described. [provided by RefSeq, Feb 2013].
            
            Transcript Variant: This variant (2) encodes the longest isoform
            (2).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803615.218003.1, S60415.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000324631.13/ ENSP00000320025.8
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..660
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10p12.33-p12.31"
     Protein         1..660
                     /product="voltage-dependent L-type calcium channel subunit
                     beta-2 isoform 2"
                     /note="voltage-dependent L-type calcium channel subunit
                     beta-2; myasthenic (Lambert-Eaton) syndrome antigen B;
                     lambert-Eaton myasthenic syndrome antigen B; calcium
                     channel voltage-dependent subunit beta 2; calcium channel,
                     voltage-dependent, beta 2 subunit"
                     /calculated_mol_wt=73450
     Region          39..101
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q08289.3)"
     Region          72..113
                     /region_name="VGCC_beta4Aa_N"
                     /note="Voltage gated calcium channel subunit beta domain
                     4Aa N terminal; pfam12052"
                     /db_xref="CDD:463445"
     Region          112..180
                     /region_name="SH3_CACNB2"
                     /note="Src Homology 3 domain of Voltage-dependent L-type
                     calcium channel subunit beta2; cd12040"
                     /db_xref="CDD:212973"
     Site            order(123,125,128,139,157..158,174,176..177)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212973"
     Region          190..261
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q08289.3)"
     Site            204
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8VGC3; propagated from
                     UniProtKB/Swiss-Prot (Q08289.3)"
     Site            207
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8CC27; propagated from
                     UniProtKB/Swiss-Prot (Q08289.3)"
     Site            218
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8CC27; propagated from
                     UniProtKB/Swiss-Prot (Q08289.3)"
     Region          280..460
                     /region_name="Guanylate_kin"
                     /note="Guanylate kinase; pfam00625"
                     /db_xref="CDD:395500"
     Region          486..641
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q08289.3)"
     Site            549
                     /site_type="other"
                     /note="Required for CaMK2D-binding. /evidence=ECO:0000250;
                     propagated from UniProtKB/Swiss-Prot (Q08289.3)"
     Site            550
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8CC27; propagated from
                     UniProtKB/Swiss-Prot (Q08289.3)"
     Site            554
                     /site_type="phosphorylation"
                     /note="Phosphothreonine, by CaMK2D.
                     /evidence=ECO:0000250|UniProtKB:Q8VGC3; propagated from
                     UniProtKB/Swiss-Prot (Q08289.3)"
     CDS             1..660
                     /gene="CACNB2"
                     /gene_synonym="CAB2; CACNLB2; CAVB2; MYSB"
                     /coded_by="NM_201596.3:314..2296"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS7125.1"
                     /db_xref="GeneID:783"
                     /db_xref="HGNC:HGNC:1402"
                     /db_xref="MIM:600003"
ORIGIN      
        1 mvqrdmsksp ptaaaavaqe iqmellenva pagalgaaaq sygkgarrkn rfkgsdgsts
       61 sdttsnsfvr qgsadsytsr psdsdvslee dreavrreae rqaqaqleka ktkpvafavr
      121 tnvsysaahe ddvpvpgmai sfeakdflhv kekfnndwwi grlvkegcei gfipspvkle
      181 nmrlqheqra kqgkfyssks ggnsssslgd ivpssrkstp pssaididat gldaeendip
      241 anhrspkpsa nsvtsphske krmpffkkte htppydvvps mrpvvlvgps lkgyevtdmm
      301 qkalfdflkh rfegrisitr vtadislakr svlnnpskha iiersntrss laevqseier
      361 ifelartlql vvldadtinh paqlsktsla piivyvkiss pkvlqrliks rgksqakhln
      421 vqmvaadkla qcppelfdvi ldenqledac ehladyleay wkathppsss lpnpllsrtl
      481 atsslplspt lasnsqgsqg dqrtdrsapi rsasqaeeep svepvkksqh rssssaphhn
      541 hrsgtsrgls rqetfdsetq esrdsayvep kedyshdhvd hyashrdhnh rdethgssdh
      601 rhresrhrsr dvdreqdhne cnkqrsrhks kdrycekdge viskkrneag ewnrdvyirq
//
