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

Cacna2d1 Gene Detail

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
Gene Overview

MyGene.info: CACNA2D1
Alliance

gene page

Sequence Map

Chr5:15934788-16374504 bp, + strand
From VEGA annotation of GRCm38

Mouse Genome Browser
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Sequence

439717 bp ± kb flank
Genome Browsers

VEGA | Ensembl | UCSC | NCBI

Genetic Map

Chromosome 5, 6.56 cM
Mapping Data

14 experiments

Human Ortholog

CACNA2D1, calcium voltage-gated channel auxiliary subunit alpha2delta 1

Vertebrate Orthologs

10

Human Ortholog

CACNA2D1, calcium voltage-gated channel auxiliary subunit alpha2delta 1
Orthology source: HomoloGene, HGNC
Synonyms

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

HGNC:1399

NCBI Gene ID: 781

neXtProt AC: NX_P54289

UniProt: P54289
Chr Location

7q21.11; chr7:81946444-82443921 (-) GRCh38.p7

HomoloGene

Vertebrate Homology Class 579
1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
HCOP

human homology predictions: CACNA2D1
Protein SuperFamily

voltage-dependent calcium channel fused subunit
Gene Tree

Cacna2d1

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Phenotype Summary

7 phenotypes from 2 alleles in 2 genetic backgrounds
15 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

10
Chemically induced (other)

2
Gene trapped

1
Spontaneous

1
Targeted

6
Genomic Mutations

4 involving Cacna2d1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

36 strains or lines available

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

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All GO Annotations

33
GO References

6

External Resources

FuncBase

Molecular Function

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

Biological Process

nucleic acid-templated transcription	carbohydrate derivative metabolism	cell death	cell differentiation	cell proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	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	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	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

179
Tissues

46
cDNA Data

22
Literature Summary

9

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase cacna2d1

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Cacna2d1 interacts with 482 markers (Mir1a-1, Mir1a-2, Mir7-1, ...) View All

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All Sequences

88
RefSeq

26
UniProt

5
CCDS

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

			Length	Strain/Species	Flank
genomic	OTTMUSG00000055290	VEGA Gene Model \| MGI Sequence Detail	439717	C57BL/6J	± kb
transcript	OTTMUST00000136877	VEGA \| MGI Sequence Detail	3933	Not Applicable
polypeptide	OTTMUSP00000072169	VEGA \| MGI Sequence Detail	1103	Not Applicable

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SNPs within 2kb

2695 from dbSNP Build 142

RFLP

3

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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

IPR036465 von Willebrand factor A-like domain superfamily

IPR002035 von Willebrand factor, type A

IPR013608 VWA N-terminal

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All nucleic 33

cDNA 28

Primer pair 5

Microarray probesets 7

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MGD-MRK-1801

Summaries

All 66

Developmental Gene Expression 9

Gene Ontology 6

Phenotypes 15
Earliest

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

J:255842 Lau LA, et al., alpha2delta-1 Signaling Drives Cell Death, Synaptogenesis, Circuit Reorganization, and Gabapentin-Mediated Neuroprotection in a Model of Insult-Induced Cortical Malformation. eNeuro. 2017 Sep-Oct;4(5):None

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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