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, and auxiliary subunits alpha-2/delta, beta, and gamma. The auxiliary subunits function in the assembly and membrane localization of the complex, and modulate calcium currents and channel activation/inactivation kinetics. The subunit encoded by this gene undergoes post-translational cleavage to yield the extracellular alpha2 peptide and a membrane-anchored delta polypeptide. This subunit is a receptor for the antiepileptic drug, gabapentin. Mutations in this gene are associated with early infantile epileptic encephalopathy. Single nucleotide polymorphisms in this gene are correlated with increased sensitivity to opioid drugs. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]

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
MIRT453367	hsa-miR-6774-5p	PAR-CLIP	23592263
MIRT453368	hsa-miR-328-5p	PAR-CLIP	23592263
MIRT453369	hsa-miR-3151-5p	PAR-CLIP	23592263
MIRT453370	hsa-miR-6766-5p	PAR-CLIP	23592263
MIRT453371	hsa-miR-6756-5p	PAR-CLIP	23592263
MIRT453372	hsa-miR-486-3p	PAR-CLIP	23592263
MIRT453373	hsa-miR-6721-5p	PAR-CLIP	23592263
MIRT453374	hsa-miR-6739-5p	PAR-CLIP	23592263
MIRT453375	hsa-miR-6733-5p	PAR-CLIP	23592263
MIRT453376	hsa-miR-3153	PAR-CLIP	23592263
MIRT453377	hsa-miR-4668-5p	PAR-CLIP	23592263
MIRT453378	hsa-miR-6804-5p	PAR-CLIP	23592263
MIRT453379	hsa-miR-4459	PAR-CLIP	23592263
MIRT453380	hsa-miR-4779	PAR-CLIP	23592263
MIRT453381	hsa-miR-4484	PAR-CLIP	23592263

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), L-type (CACNA1C OR CACNA1D) and possibly T-type (CACNA1G) (PubMed:15111129, PubMed:23339110). Overexpression induces apoptosis.
• 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