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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CACNA2D4 Gene

protein-coding GIFtS: 53
GCID: GC12M001901

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

Explore 10 diseases affiliated with
CACNA2D4 via

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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 4¹ ²
Voltage-Gated Calcium Channel Subunit Alpha-2/Delta-4² ³
RCD4² ⁵
Voltage-Dependent Calcium Channel Subunit Alpha-2/Delta-4²
Voltage-Gated Calcium Channel Alpha(2)Delta-4 Subunit²

External Ids:	HGNC: 20202¹	Entrez Gene: 93589²	Ensembl: ENSG00000151062⁷	OMIM: 608171⁵	UniProtKB: Q7Z3S7³

Export aliases for CACNA2D4 gene to outside databases

Previous GC identifers: GC12M001787 GC12M001773 GC12M001771

(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 CACNA2D4:

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: CA2D4_HUMAN, Q7Z3S7

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

activation/inactivation kinetics of the calcium channel

(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_000012.11 NC_018923.1 NT_009759.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CACNA2D4 gene promoter:
HFH-3 Nkx2-5 POU3F2 (N-Oct-5a) POU3F2 (N-Oct-5b) NRSF form 2 Tal-1beta POU3F2 E47 FOXI1 MRF-2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CACNA2D4 promoter sequence

Search SABiosciences Chromatin IP Primers for CACNA2D4

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CACNA2D4

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

Entrez Gene cytogenetic band: 12p13.33 Ensembl cytogenetic band: 12p13.33 HGNC cytogenetic band: 12p13.33

CACNA2D4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CACNA2D4 gene location

GeneLoc information about chromosome 12 GeneLoc Exon Structure

GeneLoc location for GC12M001901: view genomic region (about GC identifiers)

Start:	1,901,123 bp from pter	End:	2,028,002 bp from pter
Size:	126,880 bases	Orientation:	minus 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: CA2D4_HUMAN, Q7Z3S7 (See protein sequence)

Recommended Name: Voltage-dependent calcium channel subunit alpha-2/delta-4 precursor

Size: 1137 amino acids; 127938 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 (Probable). Interacts with CACNA1C and CACNB3

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

Sequence caution: Sequence=AAH48288.1; Type=Erroneous translation; Note=Wrong choice of frame; Sequence=AAN06672.1;

Type=Erroneous initiation; Note=Translation N-terminally extended;

Secondary accessions: Q7Z3S8 Q86XZ5 Q8IZS9

Alternative splicing: 6 isoforms: Q7Z3S7-1 Q7Z3S7-2 Q7Z3S7-4 Q7Z3S7-5 Q7Z3S7-6 Q7Z3S7-7 (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for CACNA2D4: NX_Q7Z3S7

Post-translational modifications:

May be proteolytically processed into subunits alpha-2-4 and delta-4 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_Q7Z3S7

CACNA2D4 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_758952.4

ENSEMBL proteins:

ENSP00000372169 ENSP00000440231 ENSP00000403371 ENSP00000442329 ENSP00000446341

ENSP00000465372 ENSP00000467333 ENSP00000468530 ENSP00000443038 ENSP00000468167

ENSP00000465060 ENSP00000467697 ENSP00000464949 ENSP00000468080

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	Browse Proteins at Uscn

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	--

CACNA2D4 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

CACNA2D4 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 Q7Z3S7

ProtoNet protein and cluster: Q7Z3S7

UniProtKB/Swiss-Prot: CA2D4_HUMAN, Q7Z3S7

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: CA2D4_HUMAN, Q7Z3S7

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

activation/inactivation kinetics of the calcium channel

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005244	voltage-gated ion channel activity	IEA	--
GO:0005262	calcium channel activity	IEA	--
GO:0046872	metal ion binding	IEA	--

CACNA2D4 for ontologies About GeneDecksing

Phenotypes:
1 MGI mutant phenotype (inferred from 1 allele) (MGI details for Cacna2d4):

vision/eye

CACNA2D4 for phenotypes About GeneDecksing

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for CACNA2D4

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CACNA2D4

(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 - 5/22 super-pathways (see all 22) 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

5/37 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CACNA2D4 (see all 37)

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

1 GeneGo (Thomson Reuters) Pathway for CACNA2D4

Transcription CREB pathway

1 BioSystems Pathway for CACNA2D4

Arrhythmogenic right ventricular cardiomyopathy

1 PharmGKB Pathway for CACNA2D4

Celecoxib Pathway, Pharmacodynamics

5 Kegg Pathways (Kegg details for CACNA2D4):

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

CACNA2D4 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for CACNA2D4

STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

5/10 Interacting proteins for CACNA2D4 (ENSP00000372169⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 10)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PRKACA	ENSP00000309591⁴	STRING: ENSP00000309591
PRKACB	ENSP00000359719⁴	STRING: ENSP00000359719
PRKACG	ENSP00000366488⁴	STRING: ENSP00000366488
PRKX	ENSP00000262848⁴	STRING: ENSP00000262848
RASGRF1	ENSP00000405963⁴	STRING: ENSP00000405963

About this table

(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 CACNA2D4

1 HMDB Compound for CACNA2D4 About this table

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

Search CenterWatch for drugs/clinical trials and news about CACNA2D4 / CA2D4

(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 CACNA2D4 gene (3 alternative transcripts):

NM_172364.4 NM_001005737.1 NM_001005766.1

Unigene Cluster for CACNA2D4:

Calcium channel, voltage-dependent, alpha 2/delta subunit 4

Hs.13768 [show with all ESTs]

Unigene Representative Sequence: BX537437

18/26 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 26):

ENST00000382722(uc009zdr.2 uc009zds.2 uc009zdt.1) ENST00000537784

ENST00000280663(uc021qsx.1) ENST00000444595 ENST00000545595(uc021qsy.1)

ENST00000538450(uc021qsz.1) ENST00000587995 ENST00000585385 ENST00000541444

ENST00000588077 ENST00000538027 ENST00000536846 ENST00000543405 ENST00000586184

ENST00000588896 ENST00000585708 ENST00000536818 ENST00000537923

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		hsa-miR-3673 hsa-miR-206 hsa-miR-1 hsa-miR-133b hsa-miR-1305 hsa-miR-378b hsa-miR-422a hsa-miR-133a

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Additional cDNA sequence:

AF516695.1 AK124829.1 AK301234.1 AL137658.1 BC048288.1 BC150186.1 BX537437.1

15 DOTS entries:

DT.100781705 DT.97836728 DT.100694941 DT.410395 DT.97780056 DT.95165962 DT.101962872 DT.121178100

DT.100648863 DT.75172379 DT.95084883 DT.100781704 DT.121178074 DT.91988929 DT.121178088

24/90 AceView cDNA sequences (see all 90):

AL558158 BX117768 CD743170 BX954421 BM687889 CA394664 BU155034 AA719773

BI518624 BM661578 CA443847 BQ919363 AI991425 BQ229491 AI457823 CR603629

BQ011171 BX954353 BQ636196 BF434199 AI160471 BI908463 AL137658 BQ028418

GeneLoc Exon Structure

5/8 Alternative Splicing Database (ASD) splice patterns (SP) for CACNA2D4 (see all 8) About this scheme

ExUns:	1	^	2	^	3	^	4	^	5	^	6	^	7	^	8	^	9	^	10	^	11	^	12	^	13	^	14	^	15	^	16	^	17	^	18	^	19	^	20	^	21	^	22	^	23	^	24	^	25	^	26	^
SP1:
SP2:
SP3:
SP4:
SP5:

ExUns:	27a	·	27b	·	27c	^	28	^	29	^	30	^	31	^	32	^	33a	·	33b	·	33c	^	34a	·	34b	·	34c	^	35a	·	35b	·	35c	·	35d	^	36	^	37a	·	37b	·	37c	^	38a	·	38b
SP1:	-		-												-														-		-												-
SP2:											-				-				-		-
SP3:							-								-
SP4:							-				-				-
SP5:																																											-

ECgene alternative splicing isoforms for CACNA2D4

(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

CACNA2D4 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTAACTGCGA

About this image

CACNA2D4 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Inner Nuclear Layer

Type1 Off Cone Bipolar Cells

Bipolar, Retina

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See CACNA2D4 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CACNA2D4

SOURCE GeneReport for Unigene cluster: Hs.13768

UniProtKB/Swiss-Prot: CA2D4_HUMAN, Q7Z3S7

Tissue specificity: Predominantly expressed in certain types of endocrine cells. Present in the Paneth cells of the

small intestine. Also present in the erythroblasts in the fetal liver, in the cells of the zona reticularis of the

adrenal gland and in the basophils of the pituitary. Present at low level in some brain regions such as the cerebellum

(at protein level)

SABiosciences Custom PCR Arrays for CACNA2D4

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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 CACNA2D4 gene from 6/20 species (see all 20) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Cacna2d4^{1 , 5}	calcium channel, voltage-dependent, alpha 2/delta subunit more^{1, 5}	82.7(n)¹ 84.09(a)¹		6 (56.62 cM)⁵ 319734¹ NM_001033382.2¹ NP_001028554.2¹ 119236526⁵
chicken (Gallus gallus)	Aves	CACNA2D4¹	calcium channel, voltage-dependent, alpha 2/delta subunit more	76.75(n) 79.61(a)		100858946 XM_003640417.1 XP_003640465.1
lizard (Anolis carolinensis)	Reptilia	-- --	--	83(a) 66(a)	many → 1 many → 1	5(12976124-13026302) 5(12823388-12852929)
zebrafish (Danio rerio)	Actinopterygii	cacna2d4a¹	calcium channel, voltage-dependent, alpha 2/delta subunit more	64.18(n) 64.62(a)		568225 XM_691543.4 XP_696635.3
fruit fly (Drosophila melanogaster)	Insecta	CG42817¹	CG42817	47.69(n) 37.4(a)		34951 NM_165149.2 NP_723955.2
worm (Caenorhabditis elegans)	Secernentea	unc-36⁶ tag-180⁶	Voltage-dependent calcium channel unc-36 Temporarily Assigned Gene name family member (tag-...	19(a) 16(a)	many → 1 possible ortholog	III(8193777-8201138) II(11322985-11329365)

ENSEMBL Gene Tree for CACNA2D4 (if available)
TreeFam Gene Tree for CACNA2D4 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for CACNA2D4 gene

CACNA2D2² CACNA2D1² CACNA2D3² CACHD1²

3 SIMAP similar genes for CACNA2D4 using alignment to 8 protein entries: CA2D4_HUMAN (see all proteins):

CACNA2D3 CACNA2D1 CACNA2D2

CACNA2D4 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 12 pos	Sequence	#	AA Chg	Type	More	#	Pop	Total sample
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs71454844^1,2	C	pathogenic	9081148(+)	`TGGCGG/TTACCA`	2	* Y	stg¹		1	NA	2
rs33972365^1,2	C,F	untested	1949939(+)	`GTCACC/TGCCAC`	2	A	syn¹		8	NA WA EA EU	1000
rs76224631^1,2	C,F	untested	9069769(+)	`TGTGAT/CGCAGT`	2	/I /V	mis¹		1	WA	118
rs115743337^1,2	C,F	--	1755379(+)	`AAAACC/TAGGCC`	1	--	ds500¹		1	WA	118
rs7316101^1,2	C,F	--	1755670(+)	`GCACAG/CGTGGT`	1	--	ds500¹		5	NA WA	244
rs11833546^1,2	C,F,H	--	1755681(+)	`NNNNCG/ATGACA`	1	--	ds500¹		3	NA WA	242
rs58418176^1,2	F	--	1755699(+)	`GGGACA/GCTCAG`	1	--	ds500¹		1	WA	118
rs59734486^1,2	F	--	1755910(+)	`GAATAC/GATCAC`	1	--	ut3¹		1	WA	118
rs114262354^1,2	C,F	--	1755938(+)	`TCTTCC/TGGTAA`	1	--	ut3¹		1	WA	118
rs58494350^1,2	C,F	--	1755977(+)	`GTTTCT/GATAAC`	1	--	ut3¹		1	WA	118

HapMap Linkage Disequilibrium report for CACNA2D4 (1901123 - 2028002 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 9 variations for CACNA2D4
6 CNVs: 86146 53333 75903 75902 49015 86147
3 Indels: 41866 49016 24967
Human Gene Mutation Database (HGMD): CACNA2D4

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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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CACNA2D4 for disorders           About GeneDecksing

OMIM gene information: 608171
OMIM disorders: 610478
UniProtKB/Swiss-Prot: CA2D4_HUMAN, Q7Z3S7

Defects in CACNA2D4 are the cause of retinal cone dystrophy 4 (RCD4) [MIM:610478]. RCD4 is characterized by

minimal symptoms except for slowly progressive reduction in visual acuity

10 diseases for CACNA2D4: About MalaCards

cone dystrophy 4 cone dystrophy retinal cone dystrophy 4 retinal cone dystrophy

human immunodeficiency virus infectious disease night blindness retinitis blindness

immunodeficiency neuronitis

2 diseases from the University of Copenhagen DISEASES database for CACNA2D4:

Human immunodeficiency virus infectious disease Night blindness

Human Genome Epidemiology (HuGE) Navigator: CACNA2D4 (2 documents)

Export disorders for CACNA2D4 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 CACNA2D4 gene integrated from 9 sources:
(articles sorted by number of sources associating them with CACNA2D4)

Utopia: connect your pdf to the dynamic
world of online information

Molecular cloning and characterization of the human voltage-gated calcium channel alpha(2)delta-4 subunit. (PubMed id 12181424)^{1, 2, 3} Qin N.... D'Andrea M.R. (2002)
Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy. (PubMed id 17033974)^{1, 2} Wycisk K.A.... Berger W. (2006)
Identification of a CACNA2D4 deletion in late onset bi polar disorder patients and implications for the involvement of voltage-dependen t calcium channels in psychiatric disorders. (PubMed id 22488967)¹ Van Den Bossche M.J....Del-Favero J. (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)
The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)² Bechtel S.... Schupp I. (2007)
The finished DNA sequence of human chromosome 12. (PubMed id 16541075)² Scherer S.E.... Gibbs R.A. (2006)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)² Gerhard D.S....Malek J. (2004)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (2002)

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

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 93589	HGNC: 20202	AceView: CACNA2D4	Ensembl:ENSG00000151062	euGenes: HUgn93589
ECgene: CACNA2D4	Kegg: 93589	H-InvDB: CACNA2D4

(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 CACNA2D4	Pharmacogenomics, SNPs, Pathways

Intellectual Property for CACNA2D4 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 CACNA2D4 gene:
Search GeneIP for patents involving CACNA2D4

GeneCards and IP:
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