Cacna2d2 calcium channel, voltage-dependent, alpha 2/delta subunit 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cacna2d2provided by MGI
Official Full Name: calcium channel, voltage-dependent, alpha 2/delta subunit 2provided by MGI
Primary source: MGI:MGI:1929813
See related: Ensembl:ENSMUSG00000010066 AllianceGenome:MGI:1929813
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: du; td; a2d2; torpid; Cacna2d; mKIAA0558
Summary: Enables voltage-gated calcium channel activity. Acts upstream of or within several processes, including neuromuscular junction development; positive regulation of organ growth; and rhythmic synaptic transmission. Part of voltage-gated calcium channel complex. Is expressed in several structures, including central nervous system; genitourinary system; heart; lip; and retina. Used to study epilepsy and idiopathic generalized epilepsy. Orthologous to human CACNA2D2 (calcium voltage-gated channel auxiliary subunit alpha2delta 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in cerebellum adult (RPKM 24.9), whole brain E14.5 (RPKM 22.0) and 10 other tissues See more
Orthologs: human all
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Genomic context

Location:: 9 F1; 9 58.02 cM

Exon count:: 39

Annotation release	Status	Assembly	Chr	Location
109	current	GRCm39 (GCF_000001635.27)	9	NC_000075.7 (107276948..107406545)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	9	NC_000075.6 (107399733..107529346)

Chromosome 9 - NC_000075.7 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
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?

alpha2delta-2 is required for depolarization-induced suppression of excitation in Purkinje cells.
Title: α2δ-2 is required for depolarization-induced suppression of excitation in Purkinje cells.
Presynaptic alpha2delta subunits are key organizers of glutamatergic synapses.
Title: Presynaptic α(2)δ subunits are key organizers of glutamatergic synapses.
Cacna2d2 is a developmental switch that limits axon growth and regeneration. Cacna2d2 gene deletion or silencing promoted axon growth in vitro.
Title: The Calcium Channel Subunit Alpha2delta2 Suppresses Axon Regeneration in the Adult CNS.
Inner hair cells possess calcium channels that are essential for transmitting sound information into synaptic transmitter release. Voltage-gated calcium channels can coassemble with auxiliary subunit alpha2delta isoforms 1-4. We found that hair cells of the mouse express the auxiliary subunit alpha2delta2, which is needed for normal hearing thresholds. Using a mouse model with a mutant, nonfunctional alpha2delta2 prote...
Title: α2δ2 Controls the Function and Trans-Synaptic Coupling of Cav1.3 Channels in Mouse Inner Hair Cells and Is Essential for Normal Hearing.
all of the alpha(2)delta subunits studied, alpha(2)delta-1, alpha(2)delta-2, and alpha(2)delta-3, show all of the properties expected of glycosylphosphatidylinositol-anchored proteins, both when heterologously expressed and in native tissues.
Title: The alpha2delta subunits of voltage-gated calcium channels form GPI-anchored proteins, a posttranslational modification essential for function.
In mice, targeted disruption of Cacna2d2 led to growth retardation, reduced life span, ataxia, enhanced susceptibility to seizures, and cardiac abnormalities. Cacna2d2 may be involved in hereditary cerebellar ataxias and epileptic disorders in humans.
Title: Cerebellar ataxia, seizures, premature death, and cardiac abnormalities in mice with targeted disruption of the Cacna2d2 gene.
Cacna2d2 has a role in epilepsy and ataxia
Title: entla, a novel epileptic and ataxic Cacna2d2 mutant of the mouse.
We show that both mRNA and protein corresponding to this predicted transcript are expressed in du/du cerebellum and present in Purkinje cells
Title: The ducky mutation in Cacna2d2 results in altered Purkinje cell morphology and is associated with the expression of a truncated alpha 2 delta-2 protein with abnormal function.
Both alpha2delta-2 and CaV2.1 are normally associated with cholesterol-rich microdomains, and this influences their functionality.
Title: The calcium channel alpha2delta-2 subunit partitions with CaV2.1 into lipid rafts in cerebellum: implications for localization and function.

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Variation

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Alleles

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

Spontaneous (4) 1 citation
Chemically and radiation induced (1)
Targeted (1) 1 citation
Chemically induced (ENU) (2)
Endonuclease-mediated (3)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D9Dcr100 (e-PCR), detects polymorphism
- UniSTS:499002

Homology

Orthologs from Annotation Pipeline: 471 organisms have orthologs with human gene Cacna2d2
Orthologs

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium channel activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables voltage-gated calcium channel activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables voltage-gated calcium channel activity	IDA Inferred from Direct Assay more info	PubMed
enables voltage-gated calcium channel activity	ISO Inferred from Sequence Orthology more info
enables voltage-gated monoatomic ion channel activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within calcium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within calcium ion transport	IC Inferred by Curator more info	PubMed
involved_in calcium ion transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within monoatomic ion transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within muscle cell development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuromuscular junction development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of organ growth	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of organ growth	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of heart contraction	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of monoatomic ion transmembrane transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of multicellular organism growth	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within rhythmic synaptic transmission	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	TAS Traceable Author Statement more info
part_of voltage-gated calcium channel complex	IBA Inferred from Biological aspect of Ancestor more info	PubMed
part_of voltage-gated calcium channel complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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

Names: alpha 2 delta calcium channel subunit; ducky; protein ducky; voltage-dependent calcium channel alpha2/delta-2; voltage-gated calcium channel subunit alpha-2/delta-2

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_001174047.1 → NP_001167518.1 voltage-dependent calcium channel subunit alpha-2/delta-2 isoform 1 precursor

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AL672219, AL731803

Consensus CDS

CCDS72304.1

UniProtKB/Swiss-Prot

Q6PHS9

Related

ENSMUSP00000132512.2, ENSMUST00000168532.8

Conserved Domains (4) summary

cd01463
Location:280 → 459

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:488 → 576

Cache_1; Cache domain

pfam08399
Location:144 → 268

VWA_N; VWA N-terminal

pfam08473
Location:583 → 666

VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd
NM_001174048.1 → NP_001167519.1 voltage-dependent calcium channel subunit alpha-2/delta-2 isoform 3 precursor

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks an alternate in-frame exon and uses an alternate in-frame splice site, compared to variant 1. The resulting isoform (3) lacks two internal segments, compared to isoform 1.

Source sequence(s)

AL672219, AL731803

Consensus CDS

CCDS72305.1

UniProtKB/Swiss-Prot

Q6PHS9

UniProtKB/TrEMBL

A0A411ACW5

Related

ENSMUSP00000125943.2, ENSMUST00000170737.3

Conserved Domains (4) summary

cd01463
Location:280 → 459

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:488 → 576

Cache_1; Cache domain

pfam08399
Location:144 → 268

VWA_N; VWA N-terminal

pfam08473
Location:583 → 667

VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd
NM_001174049.1 → NP_001167520.1 voltage-dependent calcium channel subunit alpha-2/delta-2 isoform 4 precursor

See identical proteins and their annotated locations for NP_001167520.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) lacks an alternate in-frame exon and uses an alternate in-frame splice site, compared to variant 1. The resulting isoform (4) lacks two internal segments, compared to isoform 1.

Source sequence(s)

AL672219, AL731803

UniProtKB/Swiss-Prot

Q6PHS9

UniProtKB/TrEMBL

A0A411ACZ2

Conserved Domains (4) summary

cd01463
Location:280 → 459

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:488 → 576

Cache_1; Cache domain

pfam08399
Location:144 → 268

VWA_N; VWA N-terminal

pfam08473
Location:583 → 667

VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd
NM_001174050.1 → NP_001167521.1 voltage-dependent calcium channel subunit alpha-2/delta-2 isoform 5 precursor

See identical proteins and their annotated locations for NP_001167521.1

Status: VALIDATED

Description

Transcript Variant: This variant (5) lacks an alternate in-frame exon and uses two alternate in-frame splice sites, compared to variant 1. The resulting isoform (5) differs at three internal regions, compared to isoform 1.

Source sequence(s)

AL672219, AL731803

Consensus CDS

CCDS52917.1

UniProtKB/Swiss-Prot

Q6PHS9

Related

ENSMUSP00000010210.7, ENSMUST00000010210.13

Conserved Domains (4) summary

cd01463
Location:280 → 459

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:488 → 576

Cache_1; Cache domain

pfam08399
Location:144 → 268

VWA_N; VWA N-terminal

pfam08473
Location:583 → 667

VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd
NM_020263.3 → NP_064659.2 voltage-dependent calcium channel subunit alpha-2/delta-2 isoform 2 precursor

See identical proteins and their annotated locations for NP_064659.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site, compared to variant 1. The resulting isoform (2) lacks a 2-aa internal segment, compared to isoform 1.

Source sequence(s)

AK044603, AK161839, AK164143, BC056389

Consensus CDS

CCDS52916.1

UniProtKB/Swiss-Prot

Q6PHS9, Q9R142

UniProtKB/TrEMBL

A0A411ACX9

Related

ENSMUSP00000082173.6, ENSMUST00000085092.12

Conserved Domains (4) summary

cd01463
Location:280 → 459

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:488 → 576

Cache_1; Cache domain

pfam08399
Location:144 → 268

VWA_N; VWA N-terminal

pfam08473
Location:583 → 666

VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...

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

Reference GRCm39 C57BL/6J

Genomic

NC_000075.7 Reference GRCm39 C57BL/6J

Range

107276948..107406545

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017313496.3 → XP_017168985.1 voltage-dependent calcium channel subunit alpha-2/delta-2 isoform X1

Conserved Domains (4) summary

cd01463
Location:280 → 459

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 ...

cl38916
Location:536 → 648

HK_sensor; Sensor domains of Histidine Kinase receptors

pfam08399
Location:144 → 268

VWA_N; VWA N-terminal

pfam08473
Location:675 → 1120

VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd
XM_011242899.4 → XP_011241201.1 voltage-dependent calcium channel subunit alpha-2/delta-2 isoform X2

UniProtKB/Swiss-Prot

Q6PHS9

Related

ENSMUSP00000126029.2, ENSMUST00000166799.8

Conserved Domains (4) summary

cd01463
Location:280 → 459

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:144 → 268

VWA_N; VWA N-terminal

pfam08473
Location:672 → 1117

VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd

pfam02743
Location:462 → 604

dCache_1; Cache domain
XM_017313497.3 → XP_017168986.1 voltage-dependent calcium channel subunit alpha-2/delta-2 isoform X3

Conserved Domains (4) summary

cd01463
Location:280 → 459

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:144 → 268

VWA_N; VWA N-terminal

pfam08473
Location:665 → 1109

VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd

pfam02743
Location:462 → 604

dCache_1; Cache domain