CACNA2D1 Gene

Aliases
for CACNA2D1 gene

Previous GC identifers: GC07M080114 GC07M081177 GC07M081191 GC07M081224 GC07M081417 GC07M076182

Summaries
for CACNA2D1 gene

Genomic Views
for CACNA2D1 gene

RefSeq DNA sequence:

NC_000007.13  NC_018918.1  NT_007933.15  NT_079595.2  

SwitchGear Promoter luciferase reporter plasmids (see all 2): CACNA2D1 promoter sequence

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CACNA2D1

CACNA2D1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)


GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M081575:  view genomic region     (about GC identifiers)

Proteins
for CACNA2D1 gene

Explore the universe of human proteins at neXtProt for CACNA2D1: NX_P54289

Post-translational modifications:

	Browse Purified and Recombinant Proteins at EMD Millipore
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	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene Protein Over-expression Lysate: CACNA2D1 OriGene Custom Protein Services for CACNA2D1
	GenScript Custom Purified and Recombinant Proteins Services for CACNA2D1
	Novus Biologicals CACNA2D1 Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Browse Proteins at Uscn

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

	EMD Millipore Mono- and Polyclonal Antibodies for the study of CACNA2D1
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	OriGene Antibodies: CACNA2D1 OriGene Custom Antibody Services for CACNA2D1
	GenScript Custom Superior Antibodies Services for CACNA2D1
	Novus Biologicals CACNA2D1 Antibodies
	Search for Antibodies for CACNA2D1 at Abcam
	Browse Antibodies at Uscn
	ThermoFisher Antibody for CACNA2D1

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for CACNA2D1
	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs and CLIAs at Uscn

Protein Domains /
Families
for CACNA2D1 gene

ProtoNet protein and cluster: P54289

Function
for CACNA2D1 gene

miRNA Products:		miRTarBase miRNAs that target CACNA2D1: hsa-mir-16 (MIRT001474)
		OriGene 3'-UTR Clone: CACNA2D1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CACNA2D1
		7 QIAGEN miScript miRNA Assays for microRNAs that regulate CACNA2D1:
		hsa-miR-4310 hsa-miR-377 hsa-miR-1322 hsa-miR-1179 hsa-miR-1207-5p hsa-miR-107 hsa-miR-103a
		SwitchGear 3'UTR luciferase reporter plasmid: CACNA2D1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CACNA2D1 (see all 7) OriGene shRNA RFP: CACNA2D1 OriGene siRNA: CACNA2D1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CACNA2D1

Gene Editing Products:

DNA2.0 Custom Protein Engineering Service for CACNA2D1

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CACNA2D1 (see all 9) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CACNA2D1 OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: CACNA2D1 (NM_000722)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for CACNA2D1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CACNA2D1

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for CACNA2D1
		Search LifeMap BioReagents cell lines for CACNA2D1

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CACNA2D1

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

(inferred from 2 alleles) (MGI details for Cacna2d1)

Pathways & Interactions
for CACNA2D1 gene

	Super-pathway	contained gene-specific pathways
1	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
2	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
3	Sweet Taste Signaling	Sweet Taste Signaling 1.00 Cellular Effects of Sildenafil 0.46 Melatonin Signaling 0.72
4	Activation of cAMP-Dependent PKA	Activation of cAMP-Dependent PKA 1.00 PKA Signaling 0.56 cAMP Pathway 0.77
5	NFAT and Cardiac Hypertrophy	NFAT and Cardiac Hypertrophy 1.00 IGF1R Signaling 0.37 Signaling Involved in Cardiac Hypertrophy 0.42

1 EMD Millipore Pathway for CACNA2D1

Transcription CREB pathway

5/38 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CACNA2D1

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

1 GeneGo (Thomson Reuters) Pathway for CACNA2D1

Transcription CREB pathway

1 BioSystems Pathway for CACNA2D1

Arrhythmogenic right ventricular cardiomyopathy

1 PharmGKB Pathway for CACNA2D1

Celecoxib Pathway, Pharmacodynamics

5         Kegg Pathways  (Kegg details for CACNA2D1)

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

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

Drugs & Compounds
for CACNA2D1 gene

Transcripts
for CACNA2D1 gene

Expression
for CACNA2D1 gene

CACNA2D1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTTATTCTGG

8 LifeMap In Vivo Development Anatomical Compartments/Cells
	Tissue Anatomical Compartment Cell			Category (developmental path)
	EyeInner Nuclear LayerType1 Off Cone Bipolar Cells			Bipolar, Retina
	KidneyCap MesenchymeCap Mesenchyme Cells			Kidney
	KidneyMetanephric MesenchymeMetanephric Mesenchyme Cells			Kidney
	Spinal CordSpinal Dorsal ColumnsDorsal Spinal Cord Progenitor Cells			Spinal Cord
	Spinal CordSpinal Ventral ColumnsVentral Spinal Cord Progenitor Cells			Motor Neurons
	BrainHypothalamus			Brain
	Spinal CordSpinal Dorsal Columns			Spinal Cord
	Spinal CordSpinal Ventral Columns			Spinal Cord
Expression: Positive    Negative     Selective marker Experimental details: Curated     Microarrays     In-situ hybridization

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CACNA2D1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CACNA2D1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CACNA2D1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CACNA2D1

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CACNA2D1

Orthologs
for CACNA2D1 gene

Paralogs
for CACNA2D1 gene

Paralogs for CACNA2D1 gene

CACNA2D4²  CACNA2D2²  CACNA2D3²  CACHD1²  

4 SIMAP similar genes for CACNA2D1 using alignment to 8 protein entries:     CA2D1_HUMAN (see all proteins):

CACNA2D2    CACNA2D4    CACNA2D3    WUGSC

CACNA2D1 for paralogs           About GeneDecksing

Genomic Variants
for CACNA2D1 gene

10/8731 NCBI SNPs in CACNA2D1 are shown (see all 8731)     About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr 7 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
rs596578291,2	C,	--	76248869(+)	CCCCCA/CCAAAA	1	--	int1		0	--	--	--	--
rs371391,2	C,F,	--	76248870(+)	CCCCCC/AAAAAA	1	--	int1 trp3		3		NA EA	249
rs133089861,2	H	--	76297168(+)	ATCAGT/GTCAGA	1	--	int1		4		NS EA	412
rs733899061,2	C,	--	76409288(+)	CTCTAC/TTTTTT	1	--	int1		1		WA	2
rs343722901,2	C,	--	76426029(+)	TAAAT-/AAGGCC	1	--	int1		2		NA	4
rs787172961,2		--	76428764(+)	AACCAC/GCTCTT	1	--	int1		0	--	--	--	--
rs133072031,2	H	--	76555036(+)	aaaCAA/GGCTAA	1	--	int1		4		NS EA	406
rs69560501,2	C,	--	76565393(+)	aaataA/G/Taaaga	1	--	int1		0	--	--	--	--
rs360393451,2	C	--	76566359(+)	GACAGG/-CAAGA	1	--	int1		1		NA	2
rs1152951781,2	C,F,	--	80910010(+)	ATAAGG/CCATTT	1	--	ds5001		1		WA	118

HapMap Linkage Disequilibrium report for CACNA2D1 (81575760 - 81825760 bp, first 250kb of CACNA2D1)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 12 variations for CACNA2D1
     7 CNVs: 10197 69984 82068 8571 94651 10196 64876
     5 Indels: 28694 94652 82069 100005 42877
Human Gene Mutation Database (HGMD): CACNA2D1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CACNA2D1

DNA2.0 Custom Variant and Variant Library Synthesis for CACNA2D1

Disorders / Diseases
for CACNA2D1 gene

Publications
for CACNA2D1 gene

PubMed articles for CACNA2D1 gene, integrated from 9 sources (see all 47): (articles sorted by number of sources associating them with CACNA2D1)

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

1. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)^{1, 2} Liu T.... Smith R.D. (2005)
2. Localization of the gene encoding the alpha 2/delta subunit (CACNL2A) of the human skeletal muscle voltage-dependent Ca2+ channel to chromosome 7q21-q22 by somatic cell hybrid analysis. (PubMed id 8188232)^{1, 3} Powers P.A....Hogan K. (1994)
3. Human neuronal voltage-dependent calcium channels: studies on subunit structure and role in channel assembly. (PubMed id 8107964)^{1, 2} Brust P.F.... Ellis S.B. (1993)
4. Structure and functional expression of alpha 1, alpha 2, and beta subunits of a novel human neuronal calcium channel subtype. (PubMed id 1309651)^{1, 2} Williams M.E.... Harpold M.M. (1992)
5. Genomic structure and functional expression of a human alpha(2)/delta calcium channel subunit gene (CACNA2). (PubMed id 10534405)^{1, 9} Schleithoff L.... Lehmann-Horn F. (1999)
6. A census of human soluble protein complexes. (PubMed id 22939629)¹ Havugimana P.C....Emili A. (2012)
7. Amperometric measurement of glutamate release modulat ion by gabapentin and pregabalin in rat neocortical slices: role of voltage-sen sitive Ca2+ I+2I'-1 subunit. (PubMed id 21464332)¹ Quintero J.E....Gerhardt G.A. (2011)
8. Use of calcium channel blockers for glaucoma. (PubMed id 20933604)⁷ Araie M. and Mayama C. (2011)
9. Identification of a novel loss-of-function calcium ch annel gene mutation in short QT syndrome (SQTS6). (PubMed id 21383000)¹ Templin C....Duru F. (2011)
10. Mutations in the cardiac L-type calcium channel assoc iated with inherited J-wave syndromes and sudden cardiac death. (PubMed id 20817017)¹ Burashnikov E....Antzelevitch C. (2010)

External Searches for CACNA2D1 gene

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Products
for CACNA2D1 gene