CACNA2D1 (calcium voltage-gated channel auxiliary subunit alpha2delta 1)

Gene

• Entrez ID: 781
• Gene name: Calcium voltage-gated channel auxiliary subunit alpha2delta 1
• Gene symbol: CACNA2D1
• Synonyms: CACNA2, CACNL2A, CCHL2A, DEE110, LINC01112, lncRNA-N3
• Chromosome: 7
• Chromosome location: 7q21.11
• Summary: 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs191213592	A>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs1554338713	ATTGTCTCTTCTAGTT>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001474	hsa-miR-16-5p	pSILAC	18668040
MIRT023627	hsa-miR-1-3p	Proteomics;Microarray	18668037
MIRT001474	hsa-miR-16-5p	Proteomics;Other	18668040
MIRT717867	hsa-miR-6814-5p	HITS-CLIP	19536157
MIRT717866	hsa-miR-4446-5p	HITS-CLIP	19536157
MIRT713924	hsa-miR-4731-3p	HITS-CLIP	19536157
MIRT713923	hsa-miR-4801	HITS-CLIP	19536157
MIRT713922	hsa-miR-4720-5p	HITS-CLIP	19536157
MIRT713921	hsa-miR-4799-3p	HITS-CLIP	19536157
MIRT713920	hsa-miR-5588-5p	HITS-CLIP	19536157
MIRT713919	hsa-miR-4642	HITS-CLIP	19536157
MIRT717867	hsa-miR-6814-5p	HITS-CLIP	19536157
MIRT717866	hsa-miR-4446-5p	HITS-CLIP	19536157
MIRT713924	hsa-miR-4731-3p	HITS-CLIP	19536157
MIRT713923	hsa-miR-4801	HITS-CLIP	19536157
MIRT713922	hsa-miR-4720-5p	HITS-CLIP	19536157
MIRT713921	hsa-miR-4799-3p	HITS-CLIP	19536157
MIRT713920	hsa-miR-5588-5p	HITS-CLIP	19536157
MIRT713919	hsa-miR-4642	HITS-CLIP	19536157
MIRT1954730	hsa-miR-409-3p	CLIP-seq
MIRT2192293	hsa-miR-1182	CLIP-seq
MIRT2192294	hsa-miR-1207-5p	CLIP-seq
MIRT2192295	hsa-miR-1271	CLIP-seq
MIRT2192296	hsa-miR-182	CLIP-seq
MIRT2192297	hsa-miR-2052	CLIP-seq
MIRT2192298	hsa-miR-3620	CLIP-seq
MIRT2192299	hsa-miR-4307	CLIP-seq
MIRT2192300	hsa-miR-4653-3p	CLIP-seq
MIRT2192301	hsa-miR-4676-5p	CLIP-seq
MIRT2192302	hsa-miR-4732-3p	CLIP-seq
MIRT2192303	hsa-miR-4736	CLIP-seq
MIRT2192304	hsa-miR-4763-3p	CLIP-seq
MIRT2192305	hsa-miR-516b	CLIP-seq
MIRT2192306	hsa-miR-575	CLIP-seq
MIRT2192307	hsa-miR-96	CLIP-seq
MIRT2192298	hsa-miR-3620	CLIP-seq
MIRT2436035	hsa-miR-4266	CLIP-seq
MIRT2436036	hsa-miR-4294	CLIP-seq
MIRT2192301	hsa-miR-4676-5p	CLIP-seq
MIRT2192302	hsa-miR-4732-3p	CLIP-seq
MIRT2192306	hsa-miR-575	CLIP-seq
MIRT2495656	hsa-miR-3591-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005245	Function	Voltage-gated calcium channel activity	IBA	21873635
GO:0005245	Function	Voltage-gated calcium channel activity	IDA	1309651
GO:0005245	Function	Voltage-gated calcium channel activity	IDA	11160515, 17224476
GO:0005245	Function	Voltage-gated calcium channel activity	IGI	21883149
GO:0005886	Component	Plasma membrane	TAS
GO:0005891	Component	Voltage-gated calcium channel complex	IBA	21873635
GO:0005891	Component	Voltage-gated calcium channel complex	IDA	11160515, 17224476
GO:0006816	Process	Calcium ion transport	IDA	1309651, 11160515
GO:0016529	Component	Sarcoplasmic reticulum	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051924	Process	Regulation of calcium ion transport	IDA	1309651
GO:0060307	Process	Regulation of ventricular cardiac muscle cell membrane repolarization	IMP	25527503
GO:0060402	Process	Calcium ion transport into cytosol	ISS	25527503
GO:0061337	Process	Cardiac conduction	TAS
GO:0061577	Process	Calcium ion transmembrane transport via high voltage-gated calcium channel	ISS	25527503
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0086002	Process	Cardiac muscle cell action potential involved in contraction	IMP	25527503
GO:0086007	Function	Voltage-gated calcium channel activity involved in cardiac muscle cell action potential	IC	17224476
GO:0086048	Process	Membrane depolarization during bundle of His cell action potential	IMP	21383000
GO:0086057	Function	Voltage-gated calcium channel activity involved in bundle of His cell action potential	IMP	21383000
GO:0086091	Process	Regulation of heart rate by cardiac conduction	IMP	25527503
GO:0098703	Process	Calcium ion import across plasma membrane	ISS
GO:0098903	Process	Regulation of membrane repolarization during action potential	ISS	25527503
GO:1901843	Process	Positive regulation of high voltage-gated calcium channel activity	ISS	25527503
GO:1902514	Process	Regulation of calcium ion transmembrane transport via high voltage-gated calcium channel	IGI	21883149
GO:1904646	Process	Cellular response to amyloid-beta	IGI	21883149
GO:1990454	Component	L-type voltage-gated calcium channel complex	IBA	21873635
GO:1990454	Component	L-type voltage-gated calcium channel complex	IDA	1309651

Other IDs

• MIM: 114204
• HGNC: 1399
• e!Ensembl: ENSG00000153956

Protein

• UniProt ID: P54289
• Protein 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]
• Protein function: The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel (PubMed:35293990). Plays an important role in excitation-contraction coupling (By simil
• PDB: 7MIX, 7MIY, 7UHF, 7UHG, 7VFS, 7VFU, 7VFV, 7VFW, 7XLQ, 7YG5, 8E59, 8E5A, 8E5B, 8EPL, 8EPM, 8FHS, 8HLP, 8HMA, 8HMB, 8IF3, 8IF4, 8WE6, 8WE7, 8WE8, 8WE9, 8WEA, 8X90, 8X91, 8X93
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08399	VWA_N	104 → 223	VWA N-terminal	Family
  PF00092	VWA	253 → 425	von Willebrand factor type A domain	Domain
  PF08473	VGCC_alpha2	644 → 1072	Neuronal voltage-dependent calcium channel alpha 2acd	Family

• Sequence:

  MAAGCLLALTLTLFQSLLIGPSSEEPFPSAVTIKSWVDKMQEDLVTLAKTASGVNQLVDI
  YEKYQDLYTVEPNNARQLVEIAARDIEKLLSNRSKALVRLALEAEKVQAAHQWREDFASN
  EVVYYNAKDDLDPEKNDSEPGSQRIKPVFIEDANFGRQISYQHAAVHIPTDIYEGSTIVL
  NELNWTSALDEVFKKNREEDPSLLWQVFGSATGLARYYPASPWVDNSRTPNKIDLYDVRR
  RPWYIQGAASPKDMLILVDVSGSVSGLTLKLIRTSVSEMLETLSDDDFVNVASFNSNAQD
  VSCFQHLVQANVRNKKVLKDAVNNITAKGITDYKKGFSFAFEQLLNYNVSRANCNKIIML
  FTDGGEERAQEIFNKYNKDKKVRVFTFSVGQHNYDRGPIQWMACENKGYYYEIPSIGAIR
  INTQEYLDVLGRPMVLAGDKAKQVQWTNVYLDALELGLVITGTLPVFNITGQFENKTNLK
  NQLILGVMGVDVSLEDIKRLTPRFTLCPNGYYFAIDPNGYVLLHPNLQPKPIGVGIPTIN
  LRKRRPNIQNPKSQEPVTLDFLDAELENDIKVEIRNKMIDGESGEKTFRTLVKSQDERYI
  DKGNRTYTWTPVNGTDYSLALVLPTYSFYYIKAKLEETITQARYSETLKPDNFEESGYTF
  IAPRDYCNDLKISDNNTEFLLNFNEFIDRKTPNNPSCNADLINRVLLDAGFTNELVQNYW
  SKQKNIKGVKARFVVTDGGITRVYPKEAGENWQENPETYEDSFYKRSLDNDNYVFTAPYF
  NKSGPGAYESGIMVSKAVEIYIQGKLLKPAVVGIKIDVNSWIENFTKTSIRDPCAGPVCD
  CKRNSDVMDCVILDDGGFLLMANHDDYTNQIGRFFGEIDPSLMRHLVNISVYAFNKSYDY
  QSVCEPGAAPKQGAGHRSAYVPSVADILQIGWWATAAAWSILQQFLLSLTFPRLLEAVEM
  EDDDFTASLSKQSCITEQTQYFFDNDSKSFSGVLDCGNCSRIFHGEKLMNTNLIFIMVES
  KGTCPCDTRLLIQAEQTSDGPNPCDMVKQPRYRKGPDVCFDNNVLEDYTDCGGVSGLNPS
  LWYIIGIQFLLLWLVSGSTHRLL

• Sequence length: 1103