Cacna2d1 MGI Mouse Gene Detail - MGI:88295 - calcium channel, voltage-dependent, alpha2/delta subunit 1

Symbol

Cacna2d1
Name

calcium channel, voltage-dependent, alpha2/delta subunit 1
Synonyms

Cacna2, Ca(v)alpha2delta1, Cchl2a

Feature Type

protein coding gene
IDs

MGI:88295
NCBI Gene: 12293
Alliance

gene page
Transcription Start Sites

15 TSS

Sequence Map

Chr5:16139786-16579502 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 5, 6.56 cM
Mapping Data

14 experiments

SNPs within 2kb

13711 from dbSNP Build 142
Strain Annotations

18
RFLP

3

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_88295	protein coding gene	Chr5:16139390-16579509 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0029298	protein coding gene	Chr5:13266376-13729560 (+)
A/J	MGP_AJ_G0029262	protein coding gene	Chr5:12863089-13305405 (+)
AKR/J	MGP_AKRJ_G0029212	protein coding gene	Chr5:13488087-13927622 (+)
BALB/cJ	MGP_BALBcJ_G0029278	protein coding gene	Chr5:13301951-13743844 (+)
C3H/HeJ	MGP_C3HHeJ_G0028999	protein coding gene	Chr5:13425667-13894266 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0029730	protein coding gene	Chr5:14536009-14996934 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0026972	protein coding gene	Chr5:11244004-11667050 (+)
CAST/EiJ	MGP_CASTEiJ_G0028411	protein coding gene	Chr5:12723812-13204816 (+)
CBA/J	MGP_CBAJ_G0028961	protein coding gene	Chr5:14402300-14897506 (+)
DBA/2J	MGP_DBA2J_G0029114	protein coding gene	Chr5:13169607-13604515 (+)
FVB/NJ	MGP_FVBNJ_G0029076	protein coding gene	Chr5:12605166-13039260 (+)
LP/J	MGP_LPJ_G0029202	protein coding gene	Chr5:13682709-14151094 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0029104	protein coding gene	Chr5:15330660-15856432 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0029762	protein coding gene	Chr5:13071064-13521867 (+)
PWK/PhJ	MGP_PWKPhJ_G0028133	protein coding gene	Chr5:12229033-12675124 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0027966	protein coding gene	Chr5:12420820-12883934 (+)
WSB/EiJ	MGP_WSBEiJ_G0028491	protein coding gene	Chr5:13065513-13534973 (+)

Human Ortholog

CACNA2D1, calcium voltage-gated channel auxiliary subunit alpha2delta 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CACNA2D1, calcium voltage-gated channel auxiliary subunit alpha2delta 1
Synonyms

CACNA2, CACNL2A, CCHL2A, DEE110, LINC01112, lncRNA-N3
Links

HGNC:1399

NCBI Gene ID: 781

UniProt: P54289
Chr Location

7q21.11; chr7:81946444-82443956 (-) GRCh38

MGI Vertebrate Homology

Cacna2d1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: CACNA2D1
Gene Tree

Cacna2d1

Diseases

1 with human CACNA2D1 associations

				Human Disease	Mouse Models
				developmental and epileptic encephalopathy 110 IDs developmental and epileptic encephalopathy 110 DOID:0070395 OMIM:620149

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

21 phenotypes from 3 alleles in 3 genetic backgrounds
43 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

17
Chemically induced (other)

2
Endonuclease-mediated

7
Spontaneous

1
Targeted

7
Genomic Mutations

4 involving Cacna2d1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

77 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice with a point mutation allele exhibit abnormal CNS synaptic transmission and decreased response to pregabalin.

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All GO Annotations

72
GO References

14

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

907
Tissues

56
cDNA Data

25
Literature Summary

17

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA CACNA2D1

Xenbase cacna2d1

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All Sequences

82
RefSeq

24
UniProt

5
CCDS

CCDS19096.1, CCDS51421.1, CCDS51422.1, CCDS51423.1, CCDS80212.1

Ensembl

ENSMUSG00000040118 (Evidence)
NCBI Gene

12293

			Length	Strain/Species	Flank
genomic	ENSMUSG00000040118	Ensembl Gene Model \| MGI Sequence Detail	439717	C57BL/6J	± kb
transcript	ENSMUST00000039370	Ensembl \| MGI Sequence Detail	3933	Not Applicable
polypeptide	ENSMUSP00000049457	Ensembl \| MGI Sequence Detail	1103	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000004942 voltage-dependent calcium channel subunit alpha-2/delta-1

(term hierarchy)
InterPro Domains

IPR013680 Voltage-dependent calcium channel, alpha-2/delta subunit, conserved region

IPR051173 Voltage-dependent calcium channel subunit alpha-2/delta

IPR036465 von Willebrand factor A-like domain superfamily

IPR002035 von Willebrand factor, type A

IPR013608 VWA N-terminal
GlyGen

O08532 15 sites, 19 N-linked glycans (11 sites), 1 O-linked glycan (1 site)

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All nucleic 38

cDNA 31

Primer pair 7

Microarray probesets 7

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MGD-MRK-1801

Summaries

All 115

Developmental Gene Expression 17

Gene Ontology 14

Phenotypes 43
Earliest

J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
Latest

J:367684 Milanick W, et al., Presynaptic alpha(2)deltas specify synaptic gain, not synaptogenesis, in the mammalian brain. Neuron. 2025 May 9;

TSS for Cacna2d1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr45209	Chr5:16139371-16139395 (+)	-403 bp
Tssr45210	Chr5:16139554-16139622 (+)	-198 bp
Tssr1426	Chr5:16139672-16139677 (+)	-111 bp
Tssr45211	Chr5:16139683-16139694 (+)	-97 bp
Tssr45212	Chr5:16139704-16139717 (+)	-75 bp
Tssr45213	Chr5:16139729-16139744 (+)	-49 bp
Tssr45214	Chr5:16139760-16139785 (+)	-13 bp
Tssr1427	Chr5:16139889-16139898 (+)	108 bp
Tssr45215	Chr5:16139911-16139924 (+)	132 bp
Tssr45216	Chr5:16139951-16139960 (+)	170 bp
Tssr45217	Chr5:16196094-16196095 (+)	56,309 bp
Tssr45218	Chr5:16213808-16213809 (+)	74,023 bp
Tssr1428	Chr5:16386272-16386279 (+)	246,490 bp
Tssr45219	Chr5:16498331-16498335 (+)	358,547 bp
Tssr45220	Chr5:16501818-16501822 (+)	362,034 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 03/18/2025 MGI 6.24