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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CACNA2D3 Gene

protein-coding GIFtS: 60
GCID: GC03P054131

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

Explore 10 diseases affiliated with
CACNA2D3 via

MalaCards

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Calcium Channel, Voltage-Dependent, Alpha 2/Delta Subunit 3¹ ²
HSA272268¹ ²
Voltage-Gated Calcium Channel Subunit Alpha-2/Delta-3² ³
Calcium Channel Alpha2-Delta3 Subunit²
Calcium Channel, Voltage-Dependent, Alpha 2/Delta 3 Subunit²
Voltage-Dependent Calcium Channel Subunit Alpha-2/Delta-3²

External Ids:	HGNC: 15460¹	Entrez Gene: 55799²	Ensembl: ENSG00000157445⁷	OMIM: 606399⁵	UniProtKB: Q8IZS8³

Export aliases for CACNA2D3 gene to outside databases

Previous GC identifers: GC03P053530 GC03P053416 GC03P054012 GC03P054114

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CACNA2D3:

This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel

complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a

complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these

subunits exist, either expressed from similar genes or the result of alternative splicing. Research on a highly

similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits.

Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized.

(provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: CA2D3_HUMAN, Q8IZS8

Function: The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and

activation/inactivation kinetics of the calcium channel. Acts as a regulatory subunit for P/Q-type calcium channel

(CACNA1A), N-type (CACNA1B), L-type (CACNA1C OR CACNA1D) but not T-type (CACNA1G) (By similarity)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000003.11 NC_018914.1 NT_022517.18

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CACNA2D3 gene promoter:
c-Fos STAT1 AP-1 Fra-1 FosB STAT1beta LUN-1 STAT1alpha GATA-6 c-Jun
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CACNA2D3 promoter sequence

Search SABiosciences Chromatin IP Primers for CACNA2D3

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CACNA2D3

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p21.1 Ensembl cytogenetic band: 3p21.1 HGNC cytogenetic band: 3p21.1

CACNA2D3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CACNA2D3 gene location

GeneLoc information about chromosome 3 GeneLoc Exon Structure

GeneLoc location for GC03P054131: view genomic region (about GC identifiers)

Start:	54,156,574 bp from pter	End:	55,108,584 bp from pter
Size:	952,011 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CA2D3_HUMAN, Q8IZS8 (See protein sequence)

Recommended Name: Voltage-dependent calcium channel subunit alpha-2/delta-3 precursor

Size: 1091 amino acids; 123011 Da

Subunit: Dimer formed of alpha-2-2 and delta-2 chains; disulfide-linked. Voltage-dependent calcium channels are

multisubunit complexes, consisting of alpha-1 (CACNA1), alpha-2 (CACNA2D), beta (CACNB) and delta (CACNA2D) subunits

in a 1:1:1:1 ratio (By similarity)

Subcellular location: Membrane; Single-pass type I membrane protein (Potential)

Miscellaneous: In contrast to CACNA2D1 and CACNA2D2, it does not bind gabapentin, an antiepileptic drug

Secondary accessions: B2RPL6 Q9NY16 Q9NY18

Alternative splicing: 3 isoforms: Q8IZS8-1 Q8IZS8-2 Q8IZS8-3

Explore the universe of human proteins at neXtProt for CACNA2D3: NX_Q8IZS8

Post-translational modifications:

N-glycosylated (By similarity)¹

May be proteolytically processed into subunits alpha-2-3 and delta-3 that are disulfide-linked. It is however unclear

whether such cleavage really takes place in vivo and has a functional role (By similarity)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q8IZS8

CACNA2D3 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_060868.2

ENSEMBL proteins:

ENSP00000419101 ENSP00000417279 ENSP00000418228 ENSP00000417318 ENSP00000418028

ENSP00000417455 ENSP00000389506 ENSP00000288197

Reactome Protein details: Q8IZS8
Human Recombinant Protein Products for CACNA2D3:

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Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0016021	integral to membrane	IEA	--

CACNA2D3 for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

CACNA2D3 for domains About GeneDecksing

3 InterPro domains/families:

IPR004010 Cache_domain

IPR013608 VWA_N

IPR002035 VWF_A

Graphical View of Domain Structure for InterPro Entry Q8IZS8

ProtoNet protein and cluster: Q8IZS8

3 Blocks protein families:

IPB002035 Von Willebrand factor type A domain signature

IPB004010 Cache domain

IPB013608 VWA N-terminal

UniProtKB/Swiss-Prot: CA2D3_HUMAN, Q8IZS8

Domain: The MIDAS-like motif in the VWFA domain binds divalent metal cations and is required to promote trafficking of

the alpha-1 (CACNA1) subunit to the plasma membrane by an integrin-like switch (By similarity)

Similarity: Belongs to the calcium channel subunit alpha-2/delta family

Similarity: Contains 1 cache domain

Similarity: Contains 1 VWFA domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: CA2D3_HUMAN, Q8IZS8

Function: The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and

activation/inactivation kinetics of the calcium channel. Acts as a regulatory subunit for P/Q-type calcium channel

(CACNA1A), N-type (CACNA1B), L-type (CACNA1C OR CACNA1D) but not T-type (CACNA1G) (By similarity)

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005245	voltage-gated calcium channel activity	IEA	--
GO:0046872	metal ion binding	IEA	--

CACNA2D3 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for CACNA2D3:

Decreased Wnt reporter activit

3 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Cacna2d3):

behavior/neurological

integument

nervous system

CACNA2D3 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Cacna2d3^tm1Pngr for CACNA2D3

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		hsa-miR-548j hsa-miR-548i hsa-miR-548k hsa-miR-513a-5p hsa-miR-767-5p hsa-miR-128 hsa-miR-548d-5p hsa-miR-548a-5p

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CACNA2D3

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/24 super-pathways (see all 24) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

DREAM Repression and Dynorphin Expression

DREAM Repression and Dynorphin Expression	1.00	Caspase Cascade	0.24
BMP Pathway	0.44	Calpain Protease Regulates Cellular Mechanics	0.22
nNOS Signaling in Skeletal Muscle	0.37

PKC-Theta Pathway

PKC-Theta Pathway	1.00	Fc-EpsilonRI Pathway	0.42
TCR Signaling	0.68	PDGF Pathway	0.35
ITK and TCR Signaling	0.54

Sweet Taste Signaling

	Sweet Taste Signaling	1.00			Cellular Effects of Sildenafil	0.46
	Melatonin Signaling	0.72

Activation of cAMP-Dependent PKA

	Activation of cAMP-Dependent PKA	1.00			PKA Signaling	0.56
	cAMP Pathway	0.77

NFAT and Cardiac Hypertrophy

	NFAT and Cardiac Hypertrophy	1.00			IGF1R Signaling	0.37
	Signaling Involved in Cardiac Hypertrophy	0.42

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for CACNA2D3

Transcription CREB pathway

5/37 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CACNA2D3 (see all 37)

	Caspase Cascade
	Fc-GammaR Pathway
	Intracellular Calcium Signaling
	PDGF Pathway
	BMP Pathway

1 GeneGo (Thomson Reuters) Pathway for CACNA2D3

Transcription CREB pathway

1 BioSystems Pathway for CACNA2D3

Arrhythmogenic right ventricular cardiomyopathy

3 Reactome Pathways for CACNA2D3

	Transmission across Chemical Synapses
	Neuronal System
	Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels

1 PharmGKB Pathway for CACNA2D3

Celecoxib Pathway, Pharmacodynamics

5 Kegg Pathways (Kegg details for CACNA2D3):

	MAPK signaling pathway
	Cardiac muscle contraction
	Hypertrophic cardiomyopathy (HCM)
	Arrhythmogenic right ventricular cardiomyopathy (ARVC)
	Dilated cardiomyopathy

CACNA2D3 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for CACNA2D3

STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

5/12 Interacting proteins for CACNA2D3 (Q8IZS8³ ENSP00000288197⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 12)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
RAD51C	O43502³, ENSP00000336701⁴	I2D: score=1 STRING: ENSP00000336701
YWHAB	P31946³	I2D: score=1
PRKACA	ENSP00000309591⁴	STRING: ENSP00000309591
PRKACB	ENSP00000359719⁴	STRING: ENSP00000359719
PRKACG	ENSP00000366488⁴	STRING: ENSP00000366488

About this table

Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006816	calcium ion transport	--	--
GO:0051925	regulation of calcium ion transport via voltage-gated calcium channel activity	--	--

CACNA2D3 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CACNA2D3

1 HMDB Compound for CACNA2D3 About this table

Compound	Synonyms	CAS #	PubMed Ids
Calcium	Ca (see all 2)	7440-70-2	--

2 DrugBank Compounds for CACNA2D3 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Amlodipine	Amlodipine Benzenesulfonate (see all 6)	88150-42-9	target	inhibitor	10525060 19634509 9249249 20097194 11426839 10374627
Nilvadipine	--	75530-68-6	target	inhibitor	10525060 19634509 9249249 20097194 11426839 10374627

Search CenterWatch for drugs/clinical trials and news about CACNA2D3 / CA2D3

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for CACNA2D3 gene:

NM_018398.2

Unigene Cluster for CACNA2D3:

Calcium channel, voltage-dependent, alpha 2/delta subunit 3

Hs.656687 [show with all ESTs]

Unigene Representative Sequence: NM_018398

11 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000474759(uc003dhf.3) ENST00000490478(uc011beu.1 uc003dhg.1)

ENST00000471363(uc003dhh.1) ENST00000477024 ENST00000492460 ENST00000468658(uc010hmv.1)

ENST00000478466 ENST00000478261 ENST00000471865 ENST00000415676 ENST00000288197

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Additional cDNA sequence:

AF516696.1 AJ272213.1 AJ272268.1 AK299718.1 AK307449.1 BC052562.1 BC065373.1 BC137502.1

BC137505.1

12 DOTS entries:

DT.309628 DT.97838107 DT.86856799 DT.100755169 DT.100755168 DT.99966540 DT.101981730 DT.75106134

DT.86838932 DT.65284623 DT.75145564 DT.75198350

24/38 AceView cDNA sequences (see all 38):

CK130239 CD513443 CK130243 CK130240 CK130242 CD107126 AI696214 AI990635

R20288 AW138616 BX113817 CK130241 AI223142 BC052562 BC065373 BQ711741

AA724785 AL041638 AA815447 BQ708505 AW341727 AI125329 AW205555 CD629251

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CACNA2D3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ACTTAGAACA

About this image

CACNA2D3 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

3 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Amacrine, Retina

Mature Horizontal Cells

Horizontal, Retina

Cartilage

Lumbar Intervertebral Disc

Cartilage

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 4 LifeMap Cells

Name

Category

PureStem™ progenitor E44 (Embryonic Progenitor Cell)

PureStem™ progenitor EN13 (Embryonic Progenitor Cell)

PureStem™ progenitor SM22 (Embryonic Progenitor Cell)

PureStem™ progenitor W10 (Embryonic Progenitor Cell)

See CACNA2D3 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CACNA2D3

SOURCE GeneReport for Unigene cluster: Hs.656687

UniProtKB/Swiss-Prot: CA2D3_HUMAN, Q8IZS8

Tissue specificity: Only detected in brain. Not present in lung, testis, aorta, spleen, jejunum, ventricular muscle and

kidney (at protein level). According to PubMed:11687876, it is brain-specific, while according to PubMed:11245980, it

is widely expressed

SABiosciences Expression via Pathway-Focused PCR Array including CACNA2D3:

WNT Signaling Targets in human mouse rat

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for CACNA2D3 gene from 6/22 species (see all 22) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	CACNA2D3¹	calcium channel, voltage-dependent, alpha 2/delta subunit more	83.02(n) 94.18(a)		415996 XM_414338.3 XP_414338.2
lizard (Anolis carolinensis)	Reptilia	-- --	--	94(a) 76(a)	possible ortholog possible ortholog	2(161095692-161155799) 2(161439219-161479241)
African clawed frog (Xenopus laevis)	Amphibia	cacna2d3-A²	calcium channel, voltage-dependent, alpha 2/delta 3 more	80.07(n)		BC041202.1
zebrafish (Danio rerio)	Actinopterygii	Dr.19748²	Transcribed sequence with weak similarity to protein more	78.97(n)		AL923426.1
fruit fly (Drosophila melanogaster)	Insecta	BG:DS07108.2³ stj¹	voltage-gated calcium channel³ straightjacket¹	35(a) (best of 3)³ 47.8(n)¹ 37.66(a)¹		35D3³ 36526¹ NM_137058.3¹ NP_610902.1¹
worm (Caenorhabditis elegans)	Secernentea	unc-36^{1 , 3}	Protein UNC-36¹	26(a)³ 44.48(n)¹ 30.13(a)¹		III(8265630-8266426)³ 176155¹ NM_001047386.1¹ NP_001040851.1¹

ENSEMBL Gene Tree for CACNA2D3 (if available)
TreeFam Gene Tree for CACNA2D3 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for CACNA2D3 gene

CACNA2D4² CACNA2D2² CACNA2D1² CACHD1²

3 SIMAP similar genes for CACNA2D3 using alignment to 4 protein entries: CA2D3_HUMAN (see all proteins):

CACNA2D4 CACNA2D1 CACNA2D2

CACNA2D3 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 3 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs192845524^1,2	C	other	77554999(+)	`AGCTTC/TGTCTA`	2	F	syn¹		0	--	--	--	--
rs80151584^1,2	F	--	54154712(+)	`GGTCAA/GCTCCT`	1	--	us2k¹		2		NA EA	240
rs150112508^1,2		--	54159269(+)	`AAGTT-/ACAC ACACA`	1	--	int¹		0	--	--	--	--
rs139677480^1,2	C	--	54159270(+)	`AAGTT-/ACACAC ACACA`	1	--	int¹		0	--	--	--	--
rs10599520^1,2	C	--	54184850(+)	`TACATGATG/- GATGG`	1	--	int¹		1		CSA	2
rs59153586^1,2	C	--	54184850(+)	`GGATG-/GATG AGTGG`	1	--	int¹		1		NA	2
rs73083998^1,2	C	--	54191863(+)	`CAAACC/AAAAAA`	1	--	int¹		1		NA	2
rs1868517^1,2	C,F,A	--	54191866(-)	`TTTTTG/TTTTGT`	1	--	int¹ trp³		4		NA WA	8
rs67194203^1,2	C	--	54281888(+)	`ATCTGCCATGCC TAGTA/-CCATG`	1	--	int¹		1		CSA	2
rs150440907^1,2	C	--	54281888(+)	`ATCTG-/CCATG CCTAGTACCATG`	1	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for CACNA2D3 (54156574 - 54406574 bp, first 250kb of CACNA2D3)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 11 variations for CACNA2D3
8 CNVs: 51123 29727 51122 98315 91312 98316 53375 9995
3 Indels: 98317 46422 91311
Human Gene Mutation Database (HGMD): CACNA2D3

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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CACNA2D3 for disorders           About GeneDecksing

OMIM gene information: 606399    OMIM disorders: --

10 diseases for CACNA2D3:    About MalaCards

zimmermann-laband syndrome laband syndrome night blindness hereditary night blindness

hypertrichosis blindness renal cell carcinoma gastric cancer

carcinoma neuronitis

1 disease from the University of Copenhagen DISEASES database for CACNA2D3:

Hereditary night blindness

Human Genome Epidemiology (HuGE) Navigator: CACNA2D3 (5 documents)

Export disorders for CACNA2D3 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for CACNA2D3 gene, integrated from 9 sources (see all 23):
(articles sorted by number of sources associating them with CACNA2D3)

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Cloning a calcium channel alpha2delta-3 subunit gene from a putative tumor suppressor gene region at chromosome 3p21.1 in conventional renal cell carcinoma. (PubMed id 11245980)^{1, 2, 3} Hanke S.... Kovacs G. (2001)
Molecular cloning and characterization of the human voltage-gated calcium channel alpha(2)delta-4 subunit. (PubMed id 12181424)^{1, 2} Qin N.... D'Andrea M.R. (2002)
Genome-wide association study of antibody response to smallpox vaccine. (PubMed id 22542470)¹ Ovsyannikova I.G....Poland G.A. (2012)
Methylation of the calcium channel regulatory subunit a2d-3 (CACNA2D3) predicts site-specific relapse in oestrogen receptor-positive p rimary breast carcinomas. (PubMed id 22644305)¹ Palmieri C....Crook T. (2012)
Integration of global spectral karyotyping, CGH arrays , and expression arrays reveals important genes in the pathogenesis of glioblast oma multiforme. (PubMed id 22395973)¹ Leone P.E....Garcia J.L. (2012)
Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)¹ Rose J.E....Uhl G.R. (2010)
A genome-wide Drosophila screen for heat nociception identifies I+2I'3 as an evolutionarily conserved pain gene. (PubMed id 21074052)¹ Neely G.G....Penninger J.M. (2010)
A genome-wide meta-analysis identifies novel loci ass ociated with schizophrenia and bipolar disorder. (PubMed id 20889312)¹ Wang K.S....Aragam N. (2010)
A region of N-type Ca(2+) channel critical for blocka de by the dihydropyridine amlodipine. (PubMed id 20097194)⁷ Miyashita Y....Nukada T. (2010)
Evaluation of the inhibitory effect of dihydropyridin es on N-type calcium channel by virtual three-dimensional pharmacophore modelin g. (PubMed id 19634509)⁷ Ogihara T....Kakinuma C. (2009)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 55799	HGNC: 15460	AceView: CACNA2D3	Ensembl:ENSG00000157445	euGenes: HUgn55799
ECgene: CACNA2D3	Kegg: 55799	H-InvDB: CACNA2D3

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for CACNA2D3	Pharmacogenomics, SNPs, Pathways

Intellectual Property for CACNA2D3 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for CACNA2D3 gene:
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GeneCards and IP:
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CACNA2D3 Gene

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