• Gene id: 781

Gene Summary

• Gene Symbol: CACNA2D1   Gene   UCSC   Ensembl
• Aliases: CACNA2, CACNL2A, CCHL2A, LINC01112, lncRNA-N3
• Gene name: calcium voltage-gated channel auxiliary subunit alpha2delta 1
• Alternate names: voltage-dependent calcium channel subunit alpha-2/delta-1, calcium channel, L type, alpha 2 polypeptide, calcium channel, voltage-dependent, alpha 2/delta subunit 1, dihydropyridine-sensitive L-type, calcium channel alpha-2/delta subunit, voltage-gated ca,
• Gene location: 7q21.11 (82443805: 81946443)     Exons: 45     NC_000007.14
• Gene summary(Entrez): The preproprotein encoded by this gene is cleaved into multiple chains that comprise the alpha-2 and delta subunits of the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarizat
• OMIM: 114204

Protein Summary

• Protein general information: P54289  
  • Name: Voltage dependent calcium channel subunit alpha 2/delta 1 (Voltage gated calcium channel subunit alpha 2/delta 1) [Cleaved into: Voltage dependent calcium channel subunit alpha 2 1; Voltage dependent calcium channel subunit delta 1]
  • Length: 1103  
  • Mass: 124,568
• Sequence:

  MAAGCLLALTLTLFQSLLIGPSSEEPFPSAVTIKSWVDKMQEDLVTLAKTASGVNQLVDIYEKYQDLYTVEPNNA
  RQLVEIAARDIEKLLSNRSKALVRLALEAEKVQAAHQWREDFASNEVVYYNAKDDLDPEKNDSEPGSQRIKPVFI
  EDANFGRQISYQHAAVHIPTDIYEGSTIVLNELNWTSALDEVFKKNREEDPSLLWQVFGSATGLARYYPASPWVD
  NSRTPNKIDLYDVRRRPWYIQGAASPKDMLILVDVSGSVSGLTLKLIRTSVSEMLETLSDDDFVNVASFNSNAQD
  VSCFQHLVQANVRNKKVLKDAVNNITAKGITDYKKGFSFAFEQLLNYNVSRANCNKIIMLFTDGGEERAQEIFNK
  YNKDKKVRVFTFSVGQHNYDRGPIQWMACENKGYYYEIPSIGAIRINTQEYLDVLGRPMVLAGDKAKQVQWTNVY
  LDALELGLVITGTLPVFNITGQFENKTNLKNQLILGVMGVDVSLEDIKRLTPRFTLCPNGYYFAIDPNGYVLLHP
  NLQPKPIGVGIPTINLRKRRPNIQNPKSQEPVTLDFLDAELENDIKVEIRNKMIDGESGEKTFRTLVKSQDERYI
  DKGNRTYTWTPVNGTDYSLALVLPTYSFYYIKAKLEETITQARYSETLKPDNFEESGYTFIAPRDYCNDLKISDN
  NTEFLLNFNEFIDRKTPNNPSCNADLINRVLLDAGFTNELVQNYWSKQKNIKGVKARFVVTDGGITRVYPKEAGE
  NWQENPETYEDSFYKRSLDNDNYVFTAPYFNKSGPGAYESGIMVSKAVEIYIQGKLLKPAVVGIKIDVNSWIENF
  TKTSIRDPCAGPVCDCKRNSDVMDCVILDDGGFLLMANHDDYTNQIGRFFGEIDPSLMRHLVNISVYAFNKSYDY
  QSVCEPGAAPKQGAGHRSAYVPSVADILQIGWWATAAAWSILQQFLLSLTFPRLLEAVEMEDDDFTASLSKQSCI
  TEQTQYFFDNDSKSFSGVLDCGNCSRIFHGEKLMNTNLIFIMVESKGTCPCDTRLLIQAEQTSDGPNPCDMVKQP
  RYRKGPDVCFDNNVLEDYTDCGGVSGLNPSLWYIIGIQFLLLWLVSGSTHRLL

• Structural information:
  • Protein Domains: VWFA. (253-430)
    Cache. (446-556)
  • Interpro: IPR013680  IPR013608  IPR002035  IPR036465  
  • Prosite: PS50234
  • STRING: ENSP00000349320
• Other Databases: GeneCards:  CACNA2D1  Malacards:  CACNA2D1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005245	voltage-gated calcium channel activity	IDA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005891	voltage-gated calcium channel complex	IDA	cellular component
GO:0005891	voltage-gated calcium channel complex	IDA	cellular component
GO:0006816	calcium ion transport	IDA	biological process
GO:0006816	calcium ion transport	IDA	biological process
GO:0016529	sarcoplasmic reticulum	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0051924	regulation of calcium ion transport	IDA	biological process
GO:0060307	regulation of ventricular cardiac muscle cell membrane repolarization	IMP	biological process
GO:0060402	calcium ion transport into cytosol	ISS	biological process
GO:0061337	cardiac conduction	TAS	biological process
GO:0061337	cardiac conduction	TAS	biological process
GO:0061337	cardiac conduction	TAS	biological process
GO:0061577	calcium ion transmembrane transport via high voltage-gated calcium channel	ISS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0086002	cardiac muscle cell action potential involved in contraction	IMP	biological process
GO:0086012	membrane depolarization during cardiac muscle cell action potential	IEA	biological process
GO:0086091	regulation of heart rate by cardiac conduction	IMP	biological process
GO:0098903	regulation of membrane repolarization during action potential	ISS	biological process
GO:1901843	positive regulation of high voltage-gated calcium channel activity	ISS	biological process
GO:1990454	L-type voltage-gated calcium channel complex	IDA	cellular component
GO:0005245	voltage-gated calcium channel activity	IDA	molecular function
GO:0005245	voltage-gated calcium channel activity	IDA	molecular function
GO:0086007	voltage-gated calcium channel activity involved in cardiac muscle cell action potential	IC	molecular function
GO:0005244	voltage-gated ion channel activity	IEA	molecular function
GO:0005245	voltage-gated calcium channel activity	IDA	molecular function
GO:0005262	calcium channel activity	IEA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005891	voltage-gated calcium channel complex	IDA	cellular component
GO:0005891	voltage-gated calcium channel complex	IDA	cellular component
GO:0006810	transport	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0006816	calcium ion transport	IEA	biological process
GO:0006816	calcium ion transport	IDA	biological process
GO:0006816	calcium ion transport	IDA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016529	sarcoplasmic reticulum	IEA	cellular component
GO:0030315	T-tubule	IEA	cellular component
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0051924	regulation of calcium ion transport	IEA	biological process
GO:0051924	regulation of calcium ion transport	IDA	biological process
GO:0060307	regulation of ventricular cardiac muscle cell membrane repolarization	IMP	biological process
GO:0060402	calcium ion transport into cytosol	ISS	biological process
GO:0061337	cardiac conduction	TAS	biological process
GO:0061337	cardiac conduction	TAS	biological process
GO:0061337	cardiac conduction	TAS	biological process
GO:0061577	calcium ion transmembrane transport via high voltage-gated calcium channel	ISS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0086002	cardiac muscle cell action potential involved in contraction	IMP	biological process
GO:0086012	membrane depolarization during cardiac muscle cell action potential	IEA	biological process
GO:0086091	regulation of heart rate by cardiac conduction	IMP	biological process
GO:0098903	regulation of membrane repolarization during action potential	ISS	biological process
GO:1901843	positive regulation of high voltage-gated calcium channel activity	ISS	biological process
GO:1990454	L-type voltage-gated calcium channel complex	IDA	cellular component
GO:0005245	voltage-gated calcium channel activity	IDA	molecular function
GO:0005245	voltage-gated calcium channel activity	IDA	molecular function
GO:0086007	voltage-gated calcium channel activity involved in cardiac muscle cell action potential	IC	molecular function
GO:0005245	voltage-gated calcium channel activity	IDA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005891	voltage-gated calcium channel complex	IDA	cellular component
GO:0005891	voltage-gated calcium channel complex	IDA	cellular component
GO:0006816	calcium ion transport	IDA	biological process
GO:0006816	calcium ion transport	IDA	biological process
GO:0051924	regulation of calcium ion transport	IDA	biological process
GO:0060307	regulation of ventricular cardiac muscle cell membrane repolarization	IMP	biological process
GO:0060402	calcium ion transport into cytosol	ISS	biological process
GO:0061337	cardiac conduction	TAS	biological process
GO:0061337	cardiac conduction	TAS	biological process
GO:0061337	cardiac conduction	TAS	biological process
GO:0061577	calcium ion transmembrane transport via high voltage-gated calcium channel	ISS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0086002	cardiac muscle cell action potential involved in contraction	IMP	biological process
GO:0086091	regulation of heart rate by cardiac conduction	IMP	biological process
GO:0098903	regulation of membrane repolarization during action potential	ISS	biological process
GO:1901843	positive regulation of high voltage-gated calcium channel activity	ISS	biological process
GO:1990454	L-type voltage-gated calcium channel complex	IDA	cellular component
GO:0005245	voltage-gated calcium channel activity	IDA	molecular function
GO:0005245	voltage-gated calcium channel activity	IDA	molecular function
GO:0086007	voltage-gated calcium channel activity involved in cardiac muscle cell action potential	IC	molecular function

KEGG pathways

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

Diseases

Associated diseases	References
Cardiovascular disease	GAD: 17903301
Carotid artery diseases	GAD: 17903303
Fatty liver	GAD: 20708005
Celiac disease	GAD: 19240061
Recurrent pregnancy loss (RPL)	INFBASE: 24937803
Male factor infertility	MIK: 24937803
Azoospermia	MIK: 24937803
Azoopsermia	MIK: 24937803
Recurrent miscarriages	MIK: 24937803
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24937803	Azoospermia, Recurrent miscarriages	46, XY, inv ins(18,7) (q22.1; q36.2q21.11)		2 (1 azoospermia, 1 recurrent miscarriages)	Male infertility, Female infertility	DPP6 CACNA2D1
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq