Cacna2d1 calcium channel, voltage-dependent, alpha2/delta subunit 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cacna2d1provided by MGI
Official Full Name: calcium channel, voltage-dependent, alpha2/delta subunit 1provided by MGI
Primary source: MGI:MGI:88295
See related: Ensembl:ENSMUSG00000040118 AllianceGenome:MGI:88295
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Cacna2; Cchl2a; Ca(v)alpha2delta1
Summary: This gene encodes a regulatory component of the voltage-dependent calcium channel complex. The product of this gene is a proprotein that is proteolytically processed into alpha-2 and delta subunits, which are linked by a disulfide bond. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013]
Expression: Biased expression in frontal lobe adult (RPKM 14.3), cortex adult (RPKM 11.8) and 14 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 A2- A3; 5 6.56 cM

Exon count:: 43

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (16139390..16579509)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (15934264..16374511)

Chromosome 5 - NC_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Influence of the calcium voltage-gated channel auxiliary subunit (CACNA2D1) absence on intraocular pressure in mice.
Title: Influence of the calcium voltage-gated channel auxiliary subunit (CACNA2D1) absence on intraocular pressure in mice.
alpha2delta-1 protein drives opioid-induced conditioned reward and synaptic NMDA receptor hyperactivity in the nucleus accumbens.
Title: α2δ-1 protein drives opioid-induced conditioned reward and synaptic NMDA receptor hyperactivity in the nucleus accumbens.
The alpha2delta-1/NMDA receptor complex is involved in brain injury after intracerebral hemorrhage in mice.
Title: The α2δ-1/NMDA receptor complex is involved in brain injury after intracerebral hemorrhage in mice.
Presynaptic alpha2delta subunits are key organizers of glutamatergic synapses.
Title: Presynaptic α(2)δ subunits are key organizers of glutamatergic synapses.
Sex-specific Effects of alpha2delta-1 in the Ventromedial Hypothalamus of Female Mice Controlling Glucose and Lipid Balance.
Title: Sex-specific Effects of α2δ-1 in the Ventromedial Hypothalamus of Female Mice Controlling Glucose and Lipid Balance.
Presynaptic expression of a single alpha2delta calcium channel variant can modulate synaptic connectivity and the localization of inhibitory postsynaptic receptors.
Title: Presynaptic α(2)δ-2 Calcium Channel Subunits Regulate Postsynaptic GABA(A) Receptor Abundance and Axonal Wiring.
alpha2delta-1-NMDAR complexes in the hypothalamus serve as an important molecular substrate for the interaction between the sympathetic nervous system and the renin-angiotensin system
Title: α2δ-1 Is Essential for Sympathetic Output and NMDA Receptor Activity Potentiated by Angiotensin II in the Hypothalamus.
TSP-alpha2delta-1 interactions control synaptogenesis postsynaptically via Rac1, suggesting potential molecular mechanisms that underlie both synaptic development and pathology.
Title: Thrombospondin receptor α2δ-1 promotes synaptogenesis and spinogenesis via postsynaptic Rac1.
REVIEW: recent findings related to maladaptive changes in the dysregulated VGCC alpha2 delta1 subunit (Cav alpha2 delta1 ) with a focus on exploring the mechanisms underlying the contribution of Cav alpha2 delta1 to pain signal transduction
Title: Injury-induced maladaptation and dysregulation of calcium channel α(2) δ subunit proteins and its contribution to neuropathic pain development.
Cacna2d1 overexpression potentiates presynaptic and postsynaptic NMDAR activity of spinal dorsal horn neurons to cause pain hypersensitivity.
Title: The α2δ-1-NMDA Receptor Complex Is Critically Involved in Neuropathic Pain Development and Gabapentin Therapeutic Actions.

Submit: New GeneRIF Correction See all GeneRIFs (33)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (5)
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH126132 (e-PCR)
- UniSTS:162844

D5Mit226 (e-PCR), detects polymorphism
- UniSTS:130358

Cacna2d1 (e-PCR), detects polymorphism
- UniSTS:166208

U73483 (e-PCR)
- UniSTS:159344

NoName (e-PCR)
- UniSTS:235132

Cacna2d1 (e-PCR), detects polymorphism
- UniSTS:498316

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables voltage-gated calcium channel activity	IBA Inferred from Biological aspect of Ancestor more info
contributes_to voltage-gated calcium channel activity	ISO Inferred from Sequence Orthology more info
enables voltage-gated calcium channel activity	ISO Inferred from Sequence Orthology more info
enables voltage-gated calcium channel activity involved in bundle of His cell action potential	IEA Inferred from Electronic Annotation more info
contributes_to voltage-gated calcium channel activity involved in bundle of His cell action potential	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in calcium ion transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in calcium ion transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in calcium ion transmembrane transport via high voltage-gated calcium channel	ISO Inferred from Sequence Orthology more info
involved_in calcium ion transmembrane transport via high voltage-gated calcium channel	ISS Inferred from Sequence or Structural Similarity more info
involved_in calcium ion transport	ISO Inferred from Sequence Orthology more info
involved_in calcium ion transport into cytosol	ISO Inferred from Sequence Orthology more info
involved_in calcium ion transport into cytosol	ISS Inferred from Sequence or Structural Similarity more info
involved_in cardiac muscle cell action potential involved in contraction	ISO Inferred from Sequence Orthology more info
involved_in cardiac muscle cell action potential involved in contraction	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to amyloid-beta	IEA Inferred from Electronic Annotation more info
involved_in cellular response to amyloid-beta	ISO Inferred from Sequence Orthology more info
involved_in membrane depolarization during bundle of His cell action potential	IEA Inferred from Electronic Annotation more info
involved_in membrane depolarization during bundle of His cell action potential	ISO Inferred from Sequence Orthology more info
involved_in regulation of calcium ion transmembrane transport via high voltage-gated calcium channel	IEA Inferred from Electronic Annotation more info
involved_in regulation of calcium ion transmembrane transport via high voltage-gated calcium channel	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of calcium ion transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of calcium ion transport	ISO Inferred from Sequence Orthology more info
involved_in regulation of heart rate by cardiac conduction	ISO Inferred from Sequence Orthology more info
involved_in regulation of heart rate by cardiac conduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of membrane repolarization during action potential	ISO Inferred from Sequence Orthology more info
involved_in regulation of membrane repolarization during action potential	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of ventricular cardiac muscle cell membrane repolarization	ISO Inferred from Sequence Orthology more info
involved_in regulation of ventricular cardiac muscle cell membrane repolarization	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in GABA-ergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in GABA-ergic synapse	IMP Inferred from Mutant Phenotype more info	PubMed
part_of L-type voltage-gated calcium channel complex	IBA Inferred from Biological aspect of Ancestor more info
part_of L-type voltage-gated calcium channel complex	ISO Inferred from Sequence Orthology more info
part_of L-type voltage-gated calcium channel complex	ISS Inferred from Sequence or Structural Similarity more info
located_in T-tubule	IDA Inferred from Direct Assay more info	PubMed
is_active_in glutamatergic synapse	ISO Inferred from Sequence Orthology more info
is_active_in neuronal dense core vesicle	EXP Inferred from Experiment more info	PubMed
is_active_in neuronal dense core vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
is_active_in postsynaptic membrane	ISO Inferred from Sequence Orthology more info
is_active_in presynaptic active zone membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in presynaptic active zone membrane	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in presynaptic active zone membrane	ISO Inferred from Sequence Orthology more info
located_in sarcoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
part_of voltage-gated calcium channel complex	IMP Inferred from Mutant Phenotype more info	PubMed
part_of voltage-gated calcium channel complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: voltage-dependent calcium channel subunit alpha-2/delta-1

Names: dihydropyridine-sensitive calcium channel alpha 2; voltage-dependent calcium channel alpha2/delta-1; voltage-gated calcium channel subunit alpha-2/delta-1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001110843.1 → NP_001104313.1 voltage-dependent calcium channel subunit alpha-2/delta-1 isoform a preproprotein

See identical proteins and their annotated locations for NP_001104313.1

Status: REVIEWED

Description

Transcript Variant: This variant (a) represents the longest transcript and encodes the longest isoform (a), which is processed into alpha-2a and delta-1 subunits.

Source sequence(s)

AC158586, AK164580, BC115871

Consensus CDS

CCDS51421.1

UniProtKB/Swiss-Prot

O08532, O08533, O08534, O08535, O08536

Related

ENSMUSP00000049457.8, ENSMUST00000039370.14

Conserved Domains (5) summary

cd01463
Location:239 → 417

vWA_VGCC_like; VWA Voltage gated Calcium channel like: Voltage-gated calcium channels are a complex of five proteins: alpha 1, beta 1, gamma, alpha 2 and delta. The alpha 2 and delta subunits result from proteolytic processing of a single gene product and carries at ...

pfam02743
Location:446 → 536

Cache_1; Cache domain

pfam08399
Location:104 → 223

VWA_N; VWA N-terminal

pfam08473
Location:562 → 646

VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd

cl21471
Location:642 → 828

RAMP_I_III; CRISPR/Cas system-associated RAMP superfamily protein
NM_001110844.1 → NP_001104314.1 voltage-dependent calcium channel subunit alpha-2/delta-1 isoform b preproprotein

See identical proteins and their annotated locations for NP_001104314.1

Status: REVIEWED

Description

Transcript Variant: This variant (b) lacks an exon and contains an alternate exon in the coding region, but maintains the reading frame, compared to variant a. The encoded isoform (b), is shorter than isoform a, and is processed into alpha-2b and delta-1 subunits.

Source sequence(s)

AC158586, AK164580, BC115871

Consensus CDS

CCDS51422.1

UniProtKB/TrEMBL

A0A411ACY8

Related

ENSMUSP00000099117.4, ENSMUST00000101581.10

Conserved Domains (5) summary

cd01463
Location:239 → 417

vWA_VGCC_like; VWA Voltage gated Calcium channel like: Voltage-gated calcium channels are a complex of five proteins: alpha 1, beta 1, gamma, alpha 2 and delta. The alpha 2 and delta subunits result from proteolytic processing of a single gene product and carries at ...

pfam02743
Location:446 → 531

Cache_1; Cache domain

pfam08399
Location:104 → 223

VWA_N; VWA N-terminal

pfam08473
Location:543 → 627

VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd

cl21471
Location:636 → 816

RAMP_I_III; CRISPR/Cas system-associated RAMP superfamily protein
NM_001110845.1 → NP_001104315.1 voltage-dependent calcium channel subunit alpha-2/delta-1 isoform c preproprotein

See identical proteins and their annotated locations for NP_001104315.1

Status: REVIEWED

Description

Transcript Variant: This variant (c) contains multiple differences in the coding region, but maintains the reading frame, compared to variant a. The encoded isoform (c) is shorter than isoform a, and is processed into alpha-2c and delta-1 subunits.

Source sequence(s)

AC158586, AK164580, BC115871

Consensus CDS

CCDS51423.1

UniProtKB/TrEMBL

Q14BH8

Related

ENSMUSP00000136260.2, ENSMUST00000180204.8

Conserved Domains (5) summary

cd01463
Location:239 → 417

vWA_VGCC_like; VWA Voltage gated Calcium channel like: Voltage-gated calcium channels are a complex of five proteins: alpha 1, beta 1, gamma, alpha 2 and delta. The alpha 2 and delta subunits result from proteolytic processing of a single gene product and carries at ...

pfam02743
Location:446 → 530

Cache_1; Cache domain

pfam08399
Location:104 → 223

VWA_N; VWA N-terminal

pfam08473
Location:538 → 622

VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd

cl21471
Location:631 → 811

RAMP_I_III; CRISPR/Cas system-associated RAMP superfamily protein
NM_001110846.1 → NP_001104316.1 voltage-dependent calcium channel subunit alpha-2/delta-1 isoform d preproprotein

See identical proteins and their annotated locations for NP_001104316.1

Status: REVIEWED

Description

Transcript Variant: This variant (d) lacks an exon and uses an alternate splice site in the coding region, but maintains the reading frame, compared to variant a. The encoded isoform (d) is shorter than isoform a, and is processed into alpha-2d and delta-1 subunits.

Source sequence(s)

AC158586, AK164580, BC115871

Consensus CDS

CCDS80212.1

Related

ENSMUSP00000142881.2, ENSMUST00000199704.5

Conserved Domains (5) summary

cd01463
Location:239 → 417

vWA_VGCC_like; VWA Voltage gated Calcium channel like: Voltage-gated calcium channels are a complex of five proteins: alpha 1, beta 1, gamma, alpha 2 and delta. The alpha 2 and delta subunits result from proteolytic processing of a single gene product and carries at ...

pfam02743
Location:446 → 530

Cache_1; Cache domain

pfam08399
Location:104 → 223

VWA_N; VWA N-terminal

pfam08473
Location:538 → 622

VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd

cl21471
Location:618 → 804

RAMP_I_III; CRISPR/Cas system-associated RAMP superfamily protein
NM_009784.2 → NP_033914.1 voltage-dependent calcium channel subunit alpha-2/delta-1 isoform e preproprotein

See identical proteins and their annotated locations for NP_033914.1

Status: REVIEWED

Description

Transcript Variant: This variant (e) lacks an exon in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (e) is shorter than isoform a, and is processed into alpha-2e and delta-1 subunits.

Source sequence(s)

AC158586, AK164580, BC115871

Consensus CDS

CCDS19096.1

Related

ENSMUSP00000077391.7, ENSMUST00000078272.13

Conserved Domains (5) summary

cd01463
Location:239 → 417

vWA_VGCC_like; VWA Voltage gated Calcium channel like: Voltage-gated calcium channels are a complex of five proteins: alpha 1, beta 1, gamma, alpha 2 and delta. The alpha 2 and delta subunits result from proteolytic processing of a single gene product and carries at ...

pfam02743
Location:446 → 531

Cache_1; Cache domain

pfam08399
Location:104 → 223

VWA_N; VWA N-terminal

pfam08473
Location:543 → 627

VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd

cl21471
Location:623 → 809

RAMP_I_III; CRISPR/Cas system-associated RAMP superfamily protein

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000071.7 Reference GRCm39 C57BL/6J

Range

16139390..16579509

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036164761.1 → XP_036020654.1 voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X6

Conserved Domains (2) summary

pfam08399
Location:104 → 223

VWA_N; VWA N-terminal

cl00057
Location:239 → 295

vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
XM_011249743.4 → XP_011248045.1 voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X7

Conserved Domains (2) summary

pfam08399
Location:104 → 223

VWA_N; VWA N-terminal

cl00057
Location:239 → 293

vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
XM_011249741.4 → XP_011248043.1 voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X5

Conserved Domains (2) summary

pfam08399
Location:104 → 223

VWA_N; VWA N-terminal

cl00057
Location:239 → 293

vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
XM_011249744.4 → XP_011248046.1 voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X1

Conserved Domains (4) summary

cd01463
Location:239 → 417

vWA_VGCC_like; VWA Voltage gated Calcium channel like: Voltage-gated calcium channels are a complex of five proteins: alpha 1, beta 1, gamma, alpha 2 and delta. The alpha 2 and delta subunits result from proteolytic processing of a single gene product and carries at ...

pfam08399
Location:104 → 223

VWA_N; VWA N-terminal

pfam08473
Location:651 → 1079

VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd

pfam02743
Location:437 → 622

dCache_1; Cache domain
XM_006535619.5 → XP_006535682.1 voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X4

Conserved Domains (3) summary

cd01463
Location:239 → 417

vWA_VGCC_like; VWA Voltage gated Calcium channel like: Voltage-gated calcium channels are a complex of five proteins: alpha 1, beta 1, gamma, alpha 2 and delta. The alpha 2 and delta subunits result from proteolytic processing of a single gene product and carries at ...

pfam08399
Location:104 → 223

VWA_N; VWA N-terminal

pfam02743
Location:437 → 526

dCache_1; Cache domain
XM_006535618.1 → XP_006535681.1 voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X3

See identical proteins and their annotated locations for XP_006535681.1

Conserved Domains (1) summary

pfam08473
Location:114 → 542

VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd
XM_017320631.1 → XP_017176120.1 voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X2

Conserved Domains (1) summary

pfam08473
Location:121 → 549

VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd