Cacna2d2 MGI Mouse Gene Detail - MGI:1929813 - calcium channel, voltage-dependent, alpha 2/delta subunit 2

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Cacna2d2 Gene Detail

Symbol

Cacna2d2
Name

calcium channel, voltage-dependent, alpha 2/delta subunit 2
Synonyms

a2d2, nmf299

Feature Type

protein coding gene
IDs

MGI:1929813
NCBI Gene: 56808
Alliance

gene page
Transcription Start Sites

5 TSS
Candidate for QTL

3 QTL

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Sequence Map

Chr9:107276948-107406545 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 9, 58.02 cM
Mapping Data

18 experiments

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SNPs within 2kb

3167 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates	Select Strains
C57BL/6J	MGI_C57BL6J_1929813	protein coding gene	Chr9:107276811-107406545 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0035252	protein coding gene	Chr9:109263391-109401314 (+)
A/J	MGP_AJ_G0035231	protein coding gene	Chr9:105294814-105426296 (+)
AKR/J	MGP_AKRJ_G0035163	protein coding gene	Chr9:107918996-108058498 (+)
BALB/cJ	MGP_BALBcJ_G0035225	protein coding gene	Chr9:104964470-105095040 (+)
C3H/HeJ	MGP_C3HHeJ_G0034935	protein coding gene	Chr9:108319716-108455410 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0035745	protein coding gene	Chr9:112264292-112396342 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0032643	protein coding gene	Chr9:102724308-102855075 (+)
CAST/EiJ	MGP_CASTEiJ_G0034246	protein coding gene	Chr9:108254462-108390363 (+)
CBA/J	MGP_CBAJ_G0034903	protein coding gene	Chr9:116236092-116369402 (+)
DBA/2J	MGP_DBA2J_G0035064	protein coding gene	Chr9:104749361-104879395 (+)
FVB/NJ	MGP_FVBNJ_G0035012	protein coding gene	Chr9:103511759-103643378 (+)
LP/J	MGP_LPJ_G0035140	protein coding gene	Chr9:109471067-109609328 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0035051	protein coding gene	Chr9:117827585-117969242 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0035766	protein coding gene	Chr9:108192676-108325784 (+)
PWK/PhJ	MGP_PWKPhJ_G0033953	protein coding gene	Chr9:105066134-105198897 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0033788	protein coding gene	Chr9:108254618-108388250 (+)
WSB/EiJ	MGP_WSBEiJ_G0034367	protein coding gene	Chr9:108076454-108212098 (+)

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Human Ortholog

CACNA2D2, calcium voltage-gated channel auxiliary subunit alpha2delta 2

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CACNA2D2, calcium voltage-gated channel auxiliary subunit alpha2delta 2
Synonyms

CACNA2D, CASVDD
Links

HGNC:1400

NCBI Gene ID: 9254

neXtProt AC: NX_Q9NY47

UniProt: Q9NY47
Chr Location

3p21.31; chr3:50362613-50504244 (-) GRCh38

MGI Vertebrate Homology

Cacna2d2 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: CACNA2D2
Gene Tree

Cacna2d2

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Diseases

1 with Cacna2d2 mouse models

Human Disease

Mouse Models

Mouse gene associated with disease

IDs

View 1 model

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

Mutations/Alleles

2 with disease annotations

References

2 with disease annotations

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Phenotype Summary

72 phenotypes from 8 alleles in 10 genetic backgrounds
44 phenotypes from multigenic genotypes
1 images
36 phenotype references

Phenotype Overview

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

16
Chemically and radiation induced

1
Chemically induced (ENU)

2
Endonuclease-mediated

4
Gene trapped

2
Spontaneous

4
Targeted

3
Genomic Mutations

1 involving Cacna2d2
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

72 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygotes for different mutant alleles show variable movement abnormalities including waddling, reeling or very slow gait, ataxia, and mild spike-wave seizures. While gross CNS abnormalities and demyelination are present in some mutant lines, they are not observed in others.

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All GO Annotations

21
GO References

8

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

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

999
Tissues

73
cDNA Data

41
Literature Summary

21

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase cacna2d2

ZFIN cacna2d2a

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All Sequences

72
RefSeq

16
UniProt

5
CCDS

CCDS52916.1, CCDS52917.1, CCDS72304.1, CCDS72305.1

Ensembl

ENSMUSG00000010066 (Evidence)
NCBI Gene

56808

Representative Sequences				Length	Strain/Species	Flank
	genomic	56808	NCBI Gene Model \| MGI Sequence Detail	129598	C57BL/6J	± kb
	transcript	NM_001174047	RefSeq \| MGI Sequence Detail	5556	C57BL/6
	polypeptide	Q6PHS9	UniProt \| EBI \| MGI Sequence Detail	1154	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000004943 voltage-dependent calcium channel subunit alpha-2/delta-2

(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

Q6PHS9 14 sites, 19 N-linked glycans (10 sites), 1 O-linked glycan (1 site)

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All nucleic 55

Genomic 7

cDNA 41

Primer pair 7

Microarray probesets 5

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MGD-MRK-14978, MGD-MRK-8913, MGI:94935

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Summaries

All 92

Developmental Gene Expression 21

Diseases 2

Gene Ontology 8

Phenotypes 36
Earliest

J:116 Snell GD, Ducky, a new second chromosome mutation in the mouse. J Hered. 1955;46(1):27-29
Latest

J:354224 Van Wauwe J, et al., PRDM16 determines specification of ventricular cardiomyocytes by suppressing alternative cell fates. Life Sci Alliance. 2024 Dec;7(12)

TSS for Cacna2d2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr86974	Chr9:107276995-107277048 (+)	74 bp
Tssr86975	Chr9:107277057-107277071 (+)	116 bp
Tssr86976	Chr9:107277242-107277263 (+)	305 bp
Tssr86977	Chr9:107382786-107382808 (+)	105,849 bp
Tssr86978	Chr9:107383083-107383091 (+)	106,139 bp

Cacna2d2 is Candidate Gene for:

QTL	Genetic Location*	Genome Location (GRCm39)	Reference	QTL Note
Bwtq4	Chr9, syntenic		J:91835	The correlation between gene expression and dietary interaction was examined in a population of (BALB/cStCrlfC3H/Nctr x VY/WffC3Hf/Nctr-A(vy)/a)F1 animals. A/a and A/A animals were placed on a 70% (calorie restricted) or 100% (non-restricted) diet andliver mRNA levels were assessed for over 18,000 genes using DNA microarrays. Twenty-eight known genes showing statistically significant differential expression between the 70% and 100% calorie diets and A/a and A/A genotypes mapped near known diabesity QTLs. These genes may be considered further for candidate genes. On mouse Chromosome 9, Ets1 (15 cM) showed differential expression between the restricted and unrestricted diets on the A/A background and between A/a and A/A animals on both therestricted and unrestricted diets. Diabesity QTLs mapping near Ets1 are Bwtq4 (8 cM) and Obq5 (19 cM). A candidate gene for diabesity QTL Dob2 (60 cM) is Cacna2d2 (60 cM). Cacna2d2 shows differential expression between the restricted and unrestricted diets on a A/a background.
Dob2	Chr9, 59.33 cM	Chr9:86121898-120118690	J:91835	The correlation between gene expression and dietary interaction was examined in a population of (BALB/cStCrlfC3H/Nctr x VY/WffC3Hf/Nctr-A(vy)/a)F1 animals. A/a and A/A animals were placed on a 70% (calorie restricted) or 100% (non-restricted) diet andliver mRNA levels were assessed for over 18,000 genes using DNA microarrays. Twenty-eight known genes showing statistically significant differential expression between the 70% and 100% calorie diets and A/a and A/A genotypes mapped near known diabesity QTLs. These genes may be considered further for candidate genes. On mouse Chromosome 9, Ets1 (15 cM) showed differential expression between the restricted and unrestricted diets on the A/A background and between A/a and A/A animals on both therestricted and unrestricted diets. Diabesity QTLs mapping near Ets1 are Bwtq4 (8 cM) and Obq5 (19 cM). A candidate gene for diabesity QTL Dob2 (60 cM) is Cacna2d2 (60 cM). Cacna2d2 shows differential expression between the restricted and unrestricted diets on a A/a background.
Obq5	Chr9, 23.53 cM	Chr9:28503333-41799326	J:91835	The correlation between gene expression and dietary interaction was examined in a population of (BALB/cStCrlfC3H/Nctr x VY/WffC3Hf/Nctr-A(vy)/a)F1 animals. A/a and A/A animals were placed on a 70% (calorie restricted) or 100% (non-restricted) diet andliver mRNA levels were assessed for over 18,000 genes using DNA microarrays. Twenty-eight known genes showing statistically significant differential expression between the 70% and 100% calorie diets and A/a and A/A genotypes mapped near known diabesity QTLs. These genes may be considered further for candidate genes. On mouse Chromosome 9, Ets1 (15 cM) showed differential expression between the restricted and unrestricted diets on the A/A background and between A/a and A/A animals on both therestricted and unrestricted diets. Diabesity QTLs mapping near Ets1 are Bwtq4 (8 cM) and Obq5 (19 cM). A candidate gene for diabesity QTL Dob2 (60 cM) is Cacna2d2 (60 cM). Cacna2d2 shows differential expression between the restricted and unrestricted diets on a A/a background.

*cM position of peak correlated region/marker

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)
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