• Gene id: 9254

Gene Summary

• Gene Symbol: CACNA2D2   Gene   UCSC   Ensembl
• Aliases: CACNA2D, CASVDD
• Gene name: calcium voltage-gated channel auxiliary subunit alpha2delta 2
• Alternate names: voltage-dependent calcium channel subunit alpha-2/delta-2, alpha 2 delta calcium channel subunit, calcium channel, voltage-dependent, alpha 2/delta subunit 2, gene 26, voltage-gated calcium channel subunit alpha-2/delta-2,
• Gene location: 3p21.31 (50504243: 50362612)     Exons: 40     NC_000003.12
• Gene summary(Entrez): 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
• OMIM: 607082

Protein Summary

• Protein general information: Q9NY47  
  • 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]
  • Length: 1150  
  • Mass: 129817
  • Tissue specificity: Predominantly present in cerebellar cortex. Present in various lung tumor cell lines, while it is absent in normal lung (at protein level). Highly expressed in heart, lung, testis, pancreas and skeletal muscle. Also expressed in kidney
• Sequence:

  MAVPARTCGASRPGPARTARPWPGCGPHPGPGTRRPTSGPPRPLWLLLPLLPLLAAPGASAYSFPQQHTMQHWAR
  RLEQEVDGVMRIFGGVQQLREIYKDNRNLFEVQENEPQKLVEKVAGDIESLLDRKVQALKRLADAAENFQKAHRW
  QDNIKEEDIVYYDAKADAELDDPESEDVERGSKASTLRLDFIEDPNFKNKVNYSYAAVQIPTDIYKGSTVILNEL
  NWTEALENVFMENRRQDPTLLWQVFGSATGVTRYYPATPWRAPKKIDLYDVRRRPWYIQGASSPKDMVIIVDVSG
  SVSGLTLKLMKTSVCEMLDTLSDDDYVNVASFNEKAQPVSCFTHLVQANVRNKKVFKEAVQGMVAKGTTGYKAGF
  EYAFDQLQNSNITRANCNKMIMMFTDGGEDRVQDVFEKYNWPNRTVRVFTFSVGQHNYDVTPLQWMACANKGYYF
  EIPSIGAIRINTQEYLDVLGRPMVLAGKEAKQVQWTNVYEDALGLGLVVTGTLPVFNLTQDGPGEKKNQLILGVM
  GIDVALNDIKRLTPNYTLGANGYVFAIDLNGYVLLHPNLKPQTTNFREPVTLDFLDAELEDENKEEIRRSMIDGN
  KGHKQIRTLVKSLDERYIDEVTRNYTWVPIRSTNYSLGLVLPPYSTFYLQANLSDQILQVKLPISKLKDFEFLLP
  SSFESEGHVFIAPREYCKDLNASDNNTEFLKNFIELMEKVTPDSKQCNNFLLHNLILDTGITQQLVERVWRDQDL
  NTYSLLAVFAATDGGITRVFPNKAAEDWTENPEPFNASFYRRSLDNHGYVFKPPHQDALLRPLELENDTVGILVS
  TAVELSLGRRTLRPAVVGVKLDLEAWAEKFKVLASNRTHQDQPQKCGPNSHCEMDCEVNNEDLLCVLIDDGGFLV
  LSNQNHQWDQVGRFFSEVDANLMLALYNNSFYTRKESYDYQAACAPQPPGNLGAAPRGVFVPTVADFLNLAWWTS
  AAAWSLFQQLLYGLIYHSWFQADPAEAEGSPETRESSCVMKQTQYYFGSVNASYNAIIDCGNCSRLFHAQRLTNT
  NLLFVVAEKPLCSQCEAGRLLQKETHSDGPEQCELVQRPRYRRGPHICFDYNATEDTSDCGRGASFPPSLGVLVS
  LQLLLLLGLPPRPQPQVLVHASRRL

• Structural information:
  • Protein Domains: (291..46-)
    (/note="VWFA-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00219-)
    (485..57-)
    (/note="Cache"-)
  • Interpro: IPR013680  IPR013608  IPR002035  IPR036465  
  • Prosite: PS50234
  • STRING: ENSP00000418081
• Other Databases: GeneCards:  CACNA2D2  Malacards:  CACNA2D2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005891	voltage-gated calcium channel complex	IBA	cellular component
GO:0005245	voltage-gated calcium channel activity	IBA	molecular function
GO:0005244	voltage-gated ion channel activity	IEA	molecular function
GO:0006816	calcium ion transport	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005262	calcium channel activity	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0050796	regulation of insulin secretion	TAS	biological process
GO:0061337	cardiac conduction	TAS	biological process
GO:0061337	cardiac conduction	TAS	biological process
GO:0060024	rhythmic synaptic transmission	IEA	biological process
GO:0040014	regulation of multicellular organism growth	IEA	biological process
GO:0007528	neuromuscular junction development	IEA	biological process
GO:0005245	voltage-gated calcium channel activity	IEA	molecular function
GO:0048747	muscle fiber development	IEA	biological process
GO:0046622	positive regulation of organ growth	IEA	biological process
GO:0005891	voltage-gated calcium channel complex	IEA	cellular component
GO:0016020	membrane	IEA	cellular component

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
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq