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Aliases & Descriptions for CACNA2D1
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| CACNA2 2 | | CACNL2A 2, 3 | | CCHL2A 2, 3 | | MHS3 3 |
| | | Descriptions |
|---|
| Voltage-gated calcium channel subunit alpha-2/delta-1 3 | | calcium channel, L type, alpha 2 polypeptide 2 | | calcium channel, voltage-dependent, alpha 2/delta subunit 1 2 | dihydropyridine-sensitive L-type, calcium channel alpha-2/delta subunit 2 |
|
| | Search outside databases for aliases for CACNA2D1 genePrevious GC identifers: GC07M080114 GC07M081177 GC07M081191 GC07M081224 |
Summaries for CACNA2D1(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for CACNA2D1: 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. 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] UniProtKB/Swiss-Prot: CA2D1_HUMAN, P54289Function: The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel. Plays an important role in excitation-contraction coupling (By similarity)Gene Wiki entry for CACNA2D1 |
Genomic Location for CACNA2D1
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the CACNA2D1 gene 
Entrez Gene cytogenetic band: 7q21-q22 Ensembl cytogenetic band: 7q21.11 HGNC cytogenetic band: 7q21-q22CACNA2D1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 7 GeneLoc Exon Structure GeneLoc location for GC07M081417:
(about GC identifiers)
Start:
|
81,417,354 bp from pter |
End:
|
81,910,967 bp from pter |
Size:
|
493,614 bases |
Orientation:
|
minus strand |
1 alternative location:
| Chr7-,CRA_TCAG 80,910,288-81,405,123 |
RefSeq DNA sequence:- NC_000007.12 NT_007933.14 NT_079595.2
| Proteins for CACNA2D1
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: CA2D1_HUMAN, P54289 (See
protein sequence)Recommended Name: Voltage-dependent calcium channel subunit alpha-2/delta-1 precursor Size: 1091 amino acids; 123183 Da
Subunit: Dimer formed of alpha-2-1 and delta-1 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: Binds gabapentin, an antiepileptic drug
Secondary accessions: Q17R45Post-translational modifications:
Proteolytically processed into subunits alpha-2-1 and delta-1 that are disulfide-linked (By similarity)1
REFSEQ proteins: NP_000713.2
ENSEMBL proteins: ENSP00000284088 ENSP00000349320 ENSP00000348589
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
3 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for CACNA2D1: Assays for CACNA2D1: | Protein
Domains/ Families for CACNA2D1(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry P54289
ProtoNet protein and cluster: P54289 4 Blocks protein families: IPB002035 Von Willebrand factor type A domain signature IPB004010 Cache domain IPB013608 VWA N-terminal IPB013680 Voltage-dependent calcium channel
UniProtKB/Swiss-Prot: CA2D1_HUMAN, P54289Domain: 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 familySimilarity: Contains 1 cache domainSimilarity: Contains 1 VWFA domain | Gene Function for CACNA2D1
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000722
Applied Biosystems Silencer® siRNAs for CACNA2D1
Sigma-Aldrich siRNA and siRNA Panels for CACNA2D1  Sigma-Aldrich shRNA Panels and shRNA for CACNA2D1  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000722                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000722                                  untagged cDNA clone in CMV expression vector: NM_000722 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_000722
UniProtKB/Swiss-Prot: CA2D1_HUMAN, P54289Function: The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel. Plays an important role in excitation-contraction coupling (By similarity)Genatlas biochemistry entry for CACNA2D1:transverse tubule (TT) calcium voltage-gated channel (VDCC),L (long lasting) type,dihydropyridine (DHP) sensitive,alpha 2-delta regulatory subunit,(140+25kDa),skeletal muscle3 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Cacna2d1):
3 Gene Ontology (GO) molecular function terms (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005244 | voltage-gated ion channel activity |
IEA | -- | | GO:0005509 | calcium ion binding |
IEA | -- | | GO:0015270 | contributes to dihydropyridine-sensitive calcium channel activity |
IDA | 11160515 | About this table | Pathways & Interactions for CACNA2D1
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|
5/94 Interacting proteins for CACNA2D1 (ENSP000003493203) via UniProtKB, MINT, and/or STRING (see all 94
)About this table
2 Gene Ontology (GO) biological process terms (links to tree view): About this table
|
Drugs & Compounds for CACNA2D1(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|  |
Enzo Life Sciences drugs & compounds for CACNA2D1 |
Browse Tocris compounds for CACNA2D1 1 Novoseek chemical compound relationship for CACNA2D1 gene
About this table
|
Transcripts for CACNA2D1(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000722
Sigma-Aldrich siRNA and siRNA Panels for CACNA2D1  Sigma-Aldrich shRNA Panels and shRNA for CACNA2D1  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_000722 REFSEQ mRNAs for CACNA2D1 gene: NM_000722.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000722               OriGene GFP tagged cDNA clone in CMV expression vector: NM_000722                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000722                                  untagged cDNA clone in CMV expression vector: NM_000722  Additional cDNA sequence: AK299838.1 BC051339.1 BC117468.1 BC117470.1 M76559.1 9 DOTS entries: DT.311566 DT.100746795 DT.95154989 DT.92421642 DT.70105027 DT.92421641 DT.102832210 DT.75167061 DT.95154990 16 AceView cDNA sequences:BX105436 AI223011 AW051755 N85205 AL134437 BI545104 BC051339 AL707206 BU501177 NM_000722 M76559 BG201986 AL596587 BF971434 AI434840 AA969854
highest scoring ESTs for CACNA2D1:M76559 AI360484 AI797108 AL707206 AW051755 AW137807 BC051339 BE550252 BE670688 BG055272 Unigene Cluster for CACNA2D1: Calcium channel, voltage-dependent, alpha 2/delta subunit 1 Hs.282151 [show with all ESTs]Unigene Representative Sequence: NM_000722
GeneLoc Exon Structure
3 Ensembl transcripts including schematic representations: ENST00000284088
ENST00000356860
ENST00000356253
|
Expression for CACNA2D1
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| CACNA2D1 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for CACNA2D1
1 / 2 / 3 3 probe-sets matching CACNA2D1 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: CTTATTCTGG
SOURCE GeneReport for Unigene cluster: Hs.282151
Expression variation in blood from EXPOLDB for CACNA2D1 UniProtKB/Swiss-Prot: CA2D1_HUMAN, P54289Tissue specificity: Central nervous system, skeletal muscle and aorta tissues |
Orthologs for CACNA2D1
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for CACNA2D1 gene from 5/9 species (see all 9
)
| Organism |
Gene |
Locus |
Description |
Human Similarity |
NCBI accessions |
dog (Canis familiaris) |
CACNA2D11 |
-- |
calcium channel, voltage-dependent, alpha 2/delta subunit more |
91.9(n) 97.07(a) |
610342 XM_847825.1 XP_852918.1 |
chimpanzee (Pan troglodytes) |
CACNA2D11 |
-- |
calcium channel, voltage-dependent, alpha 2/delta subunit more |
99.76(n) 99.82(a) |
463504 XM_001160235.1 XP_001160235.1 |
cow (Bos taurus) |
CACNA2D11 |
-- |
calcium channel, voltage-dependent, alpha 2/delta subunit more |
93.74(n) 98.08(a) |
282608 XM_609993.3 XP_609993.3 |
rat (Rattus norvegicus) |
Cacna2d11 |
-- |
calcium channel, voltage-dependent, alpha2/delta subunit more |
89.6(n) 96.33(a) |
25399 NM_012919.2 NP_037051.2 |
mouse (Mus musculus) |
Cacna2d11, 5 |
5 (4.00 cM)5
|
calcium channel, voltage-dependent, alpha2/delta subunit more1, 5 |
89.94(n)1 96.4(a)1 |
122931 NM_009784.11 NP_033914.11 AA2170385 AI4654825 (see all 18) |
About this table Species with no ortholog for CACNA2D1
ENSEMBL Gene Tree for CACNA2D1 | Paralogs for CACNA2D1(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for CACNA2D1 gene
- CACNA2D42 CACNA2D22 CACNA2D32
|
SNPs/Variants for CACNA2D1(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for CACNA2D1 (up to first 250kb)
|
Disorders & Mutations for CACNA2D1
(in which this Gene is Involved, According to
OMIM, UniProtKB,
PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 114204
Human Genome Epidemiology Navigator: CACNA2D1 (1 document)
|
Medical News for CACNA2D1(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for CACNA2D1 (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/21 PubMed articles for CACNA2D1 gene (see all 21
):- Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)3, 4 Liu T.... Smith R.D. (2005)
- 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)2, 3 Powers P.A....Hogan K. (1994)
- Structure and functional expression of alpha 1, alpha 2, and beta subunits of a novel human neuronal calcium channel subtype. (PubMed id 1309651)3, 4 Williams M.E.... Harpold M.M. (1992)
- Genomic structure and functional expression of a human alpha(2)/delta calcium channel subunit gene (CACNA2). (PubMed id 10534405)1, 3 Schleithoff L.... Lehmann-Horn F. (1999)
- Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry. (PubMed id 19159218)4 Chen R.... Zou H. (2009)
- Coeliac disease associated risk variants in TNFAIP3 and REL implicate altered NF-{kappa}B signalling. (PubMed id 19240061)3 Trynka G....Wijmenga C. (2009)
- Proarrhythmic defects in Timothy syndrome require calmodulin kinase II. (PubMed id 19001023)3 Thiel W.H....Anderson M.E. (2008)
- Elementary mechanisms producing facilitation of Cav2.1 (P/Q-type) channels. (PubMed id 17438119)3 Chaudhuri D....Yue D.T. (2007)
- Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death. (PubMed id 17224476)3 Antzelevitch C.... Wolpert C. (2007)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)4 Gerhard D.S....Malek J. (2004)
|
Search for CACNA2D1
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing CACNA2D1
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing CACNA2D1
(According to HUGE)
About This Section
| -- |
Specialized Databases showing CACNA2D1(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| About This Section
| --
| Services for CACNA2D1(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for CACNA2D1:

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GeneCards Homepage - Last full update: 1 Jul 2009
Incremental update: 13 Oct 2009
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