• Gene id: 783

Gene Summary

• Gene Symbol: CACNB2   Gene   UCSC   Ensembl
• Aliases: CAB2, CACNLB2, CAVB2, MYSB
• Gene name: calcium voltage-gated channel auxiliary subunit beta 2
• Alternate names: voltage-dependent L-type calcium channel subunit beta-2, calcium channel voltage-dependent subunit beta 2, calcium channel, voltage-dependent, beta 2 subunit, lambert-Eaton myasthenic syndrome antigen B, myasthenic (Lambert-Eaton) syndrome antigen B,
• Gene location: 10p12.33-p12.31 (18140423: 18545880)     Exons: 20     NC_000010.11
• Gene summary(Entrez): 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 autoimmu

SNPs

rs3736599

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000004.12   g.69860103C>T
NC_000004.11   g.70725821C>T
NM_005420.3   c.-64G>A
NM_005420.2   c.-64G>A
XM_011532210.2   c.-64G>A|SEQ=[C/T]|GENE=SULT1E1

rs605059

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000017.11   g.42554888G>A
NC_000017.11   g.42554888G>C
NC_000017.11   g.42554888G>T
NC_000017.10   g.40706906G>A
NC_000017.10   g.40706906G>C
NC_000017.10   g.40706906G>T
NM_000413.3   c.937G>A
NM_000413.3   c.937G>C
NM_000413.3   c.937G>T
NM_000413.4   c.937G>A
NM_0  

Protein Summary

• Protein general information: Q08289  
  • Name: Voltage dependent L type calcium channel subunit beta 2 (CAB2) (Calcium channel voltage dependent subunit beta 2) (Lambert Eaton myasthenic syndrome antigen B) (MYSB)
  • Length: 660  
  • Mass: 73581
  • Tissue specificity: Expressed in all tissues.
• Sequence:

  MVQRDMSKSPPTAAAAVAQEIQMELLENVAPAGALGAAAQSYGKGARRKNRFKGSDGSTSSDTTSNSFVRQGSAD
  SYTSRPSDSDVSLEEDREAVRREAERQAQAQLEKAKTKPVAFAVRTNVSYSAAHEDDVPVPGMAISFEAKDFLHV
  KEKFNNDWWIGRLVKEGCEIGFIPSPVKLENMRLQHEQRAKQGKFYSSKSGGNSSSSLGDIVPSSRKSTPPSSAI
  DIDATGLDAEENDIPANHRSPKPSANSVTSPHSKEKRMPFFKKTEHTPPYDVVPSMRPVVLVGPSLKGYEVTDMM
  QKALFDFLKHRFEGRISITRVTADISLAKRSVLNNPSKHAIIERSNTRSSLAEVQSEIERIFELARTLQLVVLDA
  DTINHPAQLSKTSLAPIIVYVKISSPKVLQRLIKSRGKSQAKHLNVQMVAADKLAQCPPELFDVILDENQLEDAC
  EHLADYLEAYWKATHPPSSSLPNPLLSRTLATSSLPLSPTLASNSQGSQGDQRTDRSAPIRSASQAEEEPSVEPV
  KKSQHRSSSSAPHHNHRSGTSRGLSRQETFDSETQESRDSAYVEPKEDYSHDHVDHYASHRDHNHRDETHGSSDH
  RHRESRHRSRDVDREQDHNECNKQRSRHKSKDRYCEKDGEVISKKRNEAGEWNRDVYIRQ

• Structural information:
  • Protein Domains: (114..18-)
    (/note="SH3-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192"-)
  • Interpro: IPR035605  IPR008145  IPR027417  IPR036028  IPR001452   IPR005444  IPR000584  
  • Prosite: PS50002
  • CDD: cd12040
  • STRING: ENSP00000320025
• Other Databases: GeneCards:  CACNB2  Malacards:  CACNB2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007528	neuromuscular junction development	IBA	biological process
GO:0007268	chemical synaptic transmission	IBA	biological process
GO:1901385	regulation of voltage-gated calcium channel activity	IBA	biological process
GO:0005891	voltage-gated calcium channel complex	IBA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005245	voltage-gated calcium channel activity	IEA	molecular function
GO:0005891	voltage-gated calcium channel complex	IEA	cellular component
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0005262	calcium channel activity	IEA	molecular function
GO:0006816	calcium ion transport	IEA	biological process
GO:0005244	voltage-gated ion channel activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0007528	neuromuscular junction development	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0061337	cardiac conduction	TAS	biological process
GO:0061337	cardiac conduction	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007268	chemical synaptic transmission	IEA	biological process
GO:0007601	visual perception	IEA	biological process
GO:0051015	actin filament binding	IEA	molecular function
GO:0005891	voltage-gated calcium channel complex	IEA	cellular component
GO:0098684	photoreceptor ribbon synapse	IEA	cellular component
GO:0099635	voltage-gated calcium channel activity involved in positive regulation of presynaptic cytosolic calcium levels	IEA	molecular function
GO:0008331	high voltage-gated calcium channel activity	IDA	contributes to
GO:0005245	voltage-gated calcium channel activity	IDA	molecular function
GO:1990454	L-type voltage-gated calcium channel complex	IDA	cellular component
GO:0051928	positive regulation of calcium ion transport	IDA	biological process
GO:0070509	calcium ion import	IDA	biological process
GO:0051015	actin filament binding	ISS	molecular function
GO:0086007	voltage-gated calcium channel activity involved in cardiac muscle cell action potential	IMP	contributes to
GO:0086056	voltage-gated calcium channel activity involved in AV node cell action potential	IMP	contributes to
GO:0005891	voltage-gated calcium channel complex	IDA	cellular component
GO:0072659	protein localization to plasma membrane	ISS	biological process
GO:1901843	positive regulation of high voltage-gated calcium channel activity	ISS	biological process
GO:1904879	positive regulation of calcium ion transmembrane transport via high voltage-gated calcium channel	ISS	biological process
GO:0098912	membrane depolarization during atrial cardiac muscle cell action potential	IMP	biological process
GO:0086045	membrane depolarization during AV node cell action potential	IMP	biological process
GO:0086091	regulation of heart rate by cardiac conduction	IMP	biological process
GO:0042383	sarcolemma	IEA	cellular component
GO:0098793	presynapse	IEA	cellular component
GO:0099703	induction of synaptic vesicle exocytosis by positive regulation of presynaptic cytosolic calcium ion concentration	IEA	biological process
GO:0099533	positive regulation of presynaptic cytosolic calcium concentration	IEA	biological process
GO:0005887	integral component of plasma membrane	NAS	cellular component
GO:0005262	calcium channel activity	NAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04010	MAPK signaling pathway
hsa04261	Adrenergic signaling in cardiomyocytes
hsa04921	Oxytocin signaling pathway
hsa04260	Cardiac muscle contraction
hsa05414	Dilated cardiomyopathy
hsa05410	Hypertrophic cardiomyopathy
hsa05412	Arrhythmogenic right ventricular cardiomyopathy

Diseases

Associated diseases	References
Brugada syndrome	KEGG:H00728
Brugada syndrome	KEGG:H00728
Hypertension	PMID:24338417
hypertrophic cardiomyopathy	PMID:28614222
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray