CACNA2D2 (calcium voltage-gated channel auxiliary subunit alpha2delta 2)

Gene

• Entrez ID: 9254
• Gene name: Calcium voltage-gated channel auxiliary subunit alpha2delta 2
• Gene symbol: CACNA2D2
• Synonyms: CACNA2D, CASVDD
• Chromosome: 3
• Chromosome location: 3p21.31
• Summary: Calcium channels mediate the entry of calcium ions into the cell upon membrane polarization. This gene encodes the alpha-2/delta subunit of the voltage-dependent calcium channel complex. The complex consists of the main channel-forming subunit alpha-1, an

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs587777165	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057518420	C>T	Likely-pathogenic	Splice acceptor variant
rs1060503108	TA>-	Pathogenic	Stop gained, coding sequence variant
rs1211603072	G>A	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1485894376	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1553729881	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1553759256	->T	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1559884460	GAGAT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1559887808	G>A	Pathogenic	Stop gained, coding sequence variant
rs1575601202	A>C,G	Likely-pathogenic	Splice donor variant
rs1575603683	->T	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT453381	hsa-miR-4484	PAR-CLIP	23592263
MIRT453380	hsa-miR-4779	PAR-CLIP	23592263
MIRT453379	hsa-miR-4459	PAR-CLIP	23592263
MIRT453378	hsa-miR-6804-5p	PAR-CLIP	23592263
MIRT453377	hsa-miR-4668-5p	PAR-CLIP	23592263
MIRT453376	hsa-miR-3153	PAR-CLIP	23592263
MIRT453375	hsa-miR-6733-5p	PAR-CLIP	23592263
MIRT453374	hsa-miR-6739-5p	PAR-CLIP	23592263
MIRT453373	hsa-miR-6721-5p	PAR-CLIP	23592263
MIRT453372	hsa-miR-486-3p	PAR-CLIP	23592263
MIRT453371	hsa-miR-6756-5p	PAR-CLIP	23592263
MIRT453370	hsa-miR-6766-5p	PAR-CLIP	23592263
MIRT453369	hsa-miR-3151-5p	PAR-CLIP	23592263
MIRT453368	hsa-miR-328-5p	PAR-CLIP	23592263
MIRT453367	hsa-miR-6774-5p	PAR-CLIP	23592263
MIRT453381	hsa-miR-4484	PAR-CLIP	23592263
MIRT453380	hsa-miR-4779	PAR-CLIP	23592263
MIRT453379	hsa-miR-4459	PAR-CLIP	23592263
MIRT453378	hsa-miR-6804-5p	PAR-CLIP	23592263
MIRT453377	hsa-miR-4668-5p	PAR-CLIP	23592263
MIRT453376	hsa-miR-3153	PAR-CLIP	23592263
MIRT453375	hsa-miR-6733-5p	PAR-CLIP	23592263
MIRT453374	hsa-miR-6739-5p	PAR-CLIP	23592263
MIRT453373	hsa-miR-6721-5p	PAR-CLIP	23592263
MIRT453372	hsa-miR-486-3p	PAR-CLIP	23592263
MIRT453371	hsa-miR-6756-5p	PAR-CLIP	23592263
MIRT453370	hsa-miR-6766-5p	PAR-CLIP	23592263
MIRT453369	hsa-miR-3151-5p	PAR-CLIP	23592263
MIRT453368	hsa-miR-328-5p	PAR-CLIP	23592263
MIRT453367	hsa-miR-6774-5p	PAR-CLIP	23592263
MIRT755800	hsa-miR-423-5p	Luciferase reporter assay, qRT-PCR, Immunofluorescence	37047559
MIRT857796	hsa-miR-1208	CLIP-seq
MIRT857797	hsa-miR-1225-3p	CLIP-seq
MIRT857798	hsa-miR-1233	CLIP-seq
MIRT857799	hsa-miR-1321	CLIP-seq
MIRT857800	hsa-miR-134	CLIP-seq
MIRT857801	hsa-miR-185	CLIP-seq
MIRT857802	hsa-miR-224	CLIP-seq
MIRT857803	hsa-miR-3118	CLIP-seq
MIRT857804	hsa-miR-3126-5p	CLIP-seq
MIRT857805	hsa-miR-3145-3p	CLIP-seq
MIRT857806	hsa-miR-3164	CLIP-seq
MIRT857807	hsa-miR-3189-5p	CLIP-seq
MIRT857808	hsa-miR-3200-5p	CLIP-seq
MIRT857809	hsa-miR-34c-3p	CLIP-seq
MIRT857810	hsa-miR-377	CLIP-seq
MIRT857811	hsa-miR-4291	CLIP-seq
MIRT857812	hsa-miR-4303	CLIP-seq
MIRT857813	hsa-miR-4306	CLIP-seq
MIRT857814	hsa-miR-4323	CLIP-seq
MIRT857815	hsa-miR-4644	CLIP-seq
MIRT857816	hsa-miR-4688	CLIP-seq
MIRT857817	hsa-miR-4728-5p	CLIP-seq
MIRT857818	hsa-miR-4739	CLIP-seq
MIRT857819	hsa-miR-4756-5p	CLIP-seq
MIRT857820	hsa-miR-4768-3p	CLIP-seq
MIRT857821	hsa-miR-545	CLIP-seq
MIRT857822	hsa-miR-555	CLIP-seq
MIRT857823	hsa-miR-624	CLIP-seq
MIRT857824	hsa-miR-1262	CLIP-seq
MIRT857825	hsa-miR-1273f	CLIP-seq
MIRT857799	hsa-miR-1321	CLIP-seq
MIRT857826	hsa-miR-143	CLIP-seq
MIRT857804	hsa-miR-3126-5p	CLIP-seq
MIRT857827	hsa-miR-3689d	CLIP-seq
MIRT857811	hsa-miR-4291	CLIP-seq
MIRT857828	hsa-miR-4701-3p	CLIP-seq
MIRT857829	hsa-miR-4708-5p	CLIP-seq
MIRT857817	hsa-miR-4728-5p	CLIP-seq
MIRT857818	hsa-miR-4739	CLIP-seq
MIRT857819	hsa-miR-4756-5p	CLIP-seq
MIRT857830	hsa-miR-4770	CLIP-seq
MIRT857821	hsa-miR-545	CLIP-seq
MIRT857831	hsa-miR-576-3p	CLIP-seq
MIRT1546043	hsa-miR-1197	CLIP-seq
MIRT1546044	hsa-miR-3184	CLIP-seq
MIRT1546045	hsa-miR-3614-5p	CLIP-seq
MIRT755800	hsa-miR-423-5p	CLIP-seq
MIRT1546046	hsa-miR-432	CLIP-seq
MIRT1546047	hsa-miR-4443	CLIP-seq
MIRT1546048	hsa-miR-4710	CLIP-seq
MIRT1546049	hsa-miR-765	CLIP-seq
MIRT1546050	hsa-miR-890	CLIP-seq
MIRT1546043	hsa-miR-1197	CLIP-seq
MIRT857801	hsa-miR-185	CLIP-seq
MIRT1954731	hsa-miR-3117-5p	CLIP-seq
MIRT1954732	hsa-miR-3174	CLIP-seq
MIRT1546044	hsa-miR-3184	CLIP-seq
MIRT1954733	hsa-miR-3663-3p	CLIP-seq
MIRT1954734	hsa-miR-409-5p	CLIP-seq
MIRT755800	hsa-miR-423-5p	CLIP-seq
MIRT1954735	hsa-miR-4254	CLIP-seq
MIRT857813	hsa-miR-4306	CLIP-seq
MIRT1954736	hsa-miR-4450	CLIP-seq
MIRT857815	hsa-miR-4644	CLIP-seq
MIRT1954737	hsa-miR-4704-5p	CLIP-seq
MIRT1546048	hsa-miR-4710	CLIP-seq
MIRT1954738	hsa-miR-522	CLIP-seq
MIRT1954739	hsa-miR-539	CLIP-seq
MIRT1954740	hsa-miR-619	CLIP-seq
MIRT1954741	hsa-miR-921	CLIP-seq
MIRT1546043	hsa-miR-1197	CLIP-seq
MIRT2192308	hsa-miR-1207-5p	CLIP-seq
MIRT857801	hsa-miR-185	CLIP-seq
MIRT2192309	hsa-miR-3151	CLIP-seq
MIRT1546044	hsa-miR-3184	CLIP-seq
MIRT1546045	hsa-miR-3614-5p	CLIP-seq
MIRT1954733	hsa-miR-3663-3p	CLIP-seq
MIRT755800	hsa-miR-423-5p	CLIP-seq
MIRT1954735	hsa-miR-4254	CLIP-seq
MIRT857813	hsa-miR-4306	CLIP-seq
MIRT1546046	hsa-miR-432	CLIP-seq
MIRT1546047	hsa-miR-4443	CLIP-seq
MIRT857815	hsa-miR-4644	CLIP-seq
MIRT1546048	hsa-miR-4710	CLIP-seq
MIRT2192310	hsa-miR-4723-5p	CLIP-seq
MIRT2192311	hsa-miR-4763-3p	CLIP-seq
MIRT1954740	hsa-miR-619	CLIP-seq
MIRT1546049	hsa-miR-765	CLIP-seq
MIRT1546050	hsa-miR-890	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005245	Function	Voltage-gated calcium channel activity	IBA	21873635
GO:0005886	Component	Plasma membrane	TAS
GO:0005891	Component	Voltage-gated calcium channel complex	IBA	21873635
GO:0034765	Process	Regulation of ion transmembrane transport	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0050796	Process	Regulation of insulin secretion	TAS
GO:0061337	Process	Cardiac conduction	TAS
GO:0070588	Process	Calcium ion transmembrane transport	IEA

Other IDs

• MIM: 607082
• HGNC: 1400
• e!Ensembl: ENSG00000007402

Protein

• UniProt ID: Q9NY47
• Protein name: Voltage-dependent calcium channel subunit alpha-2/delta-2 (Voltage-gated calcium channel subunit alpha-2/delta-2) [Cleaved into: Voltage-dependent calcium channel subunit alpha-2-2; Voltage-dependent calcium channel subunit delta-2]
• Protein function: The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel. Acts as a regulatory subunit for P/Q-type calcium channel (CACNA1A), N-type (CACNA1B),
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08399	VWA_N	141 → 265	VWA N-terminal	Family
  PF00092	VWA	291 → 464	von Willebrand factor type A domain	Domain
  PF08473	VGCC_alpha2	669 → 1111	Neuronal voltage-dependent calcium channel alpha 2acd	Family

• Sequence:

  MAVPARTCGASRPGPARTARPWPGCGPHPGPGTRRPTSGPPRPLWLLLPLLPLLAAPGAS
  AYSFPQQHTMQHWARRLEQEVDGVMRIFGGVQQLREIYKDNRNLFEVQENEPQKLVEKVA
  GDIESLLDRKVQALKRLADAAENFQKAHRWQDNIKEEDIVYYDAKADAELDDPESEDVER
  GSKASTLRLDFIEDPNFKNKVNYSYAAVQIPTDIYKGSTVILNELNWTEALENVFMENRR
  QDPTLLWQVFGSATGVTRYYPATPWRAPKKIDLYDVRRRPWYIQGASSPKDMVIIVDVSG
  SVSGLTLKLMKTSVCEMLDTLSDDDYVNVASFNEKAQPVSCFTHLVQANVRNKKVFKEAV
  QGMVAKGTTGYKAGFEYAFDQLQNSNITRANCNKMIMMFTDGGEDRVQDVFEKYNWPNRT
  VRVFTFSVGQHNYDVTPLQWMACANKGYYFEIPSIGAIRINTQEYLDVLGRPMVLAGKEA
  KQVQWTNVYEDALGLGLVVTGTLPVFNLTQDGPGEKKNQLILGVMGIDVALNDIKRLTPN
  YTLGANGYVFAIDLNGYVLLHPNLKPQTTNFREPVTLDFLDAELEDENKEEIRRSMIDGN
  KGHKQIRTLVKSLDERYIDEVTRNYTWVPIRSTNYSLGLVLPPYSTFYLQANLSDQILQV
  KLPISKLKDFEFLLPSSFESEGHVFIAPREYCKDLNASDNNTEFLKNFIELMEKVTPDSK
  QCNNFLLHNLILDTGITQQLVERVWRDQDLNTYSLLAVFAATDGGITRVFPNKAAEDWTE
  NPEPFNASFYRRSLDNHGYVFKPPHQDALLRPLELENDTVGILVSTAVELSLGRRTLRPA
  VVGVKLDLEAWAEKFKVLASNRTHQDQPQKCGPNSHCEMDCEVNNEDLLCVLIDDGGFLV
  LSNQNHQWDQVGRFFSEVDANLMLALYNNSFYTRKESYDYQAACAPQPPGNLGAAPRGVF
  VPTVADFLNLAWWTSAAAWSLFQQLLYGLIYHSWFQADPAEAEGSPETRESSCVMKQTQY
  YFGSVNASYNAIIDCGNCSRLFHAQRLTNTNLLFVVAEKPLCSQCEAGRLLQKETHSDGP
  EQCELVQRPRYRRGPHICFDYNATEDTSDCGRGASFPPSLGVLVSLQLLLLLGLPPRPQP
  QVLVHASRRL

• Sequence length: 1150