CACNA1D Gene
protein-coding GIFtS : 62
GCID: GC03 P053504
calcium channel, voltage-dependent, L type, alpha 1D subunit (Previous symbols: CCHL1A2, CACNL1A2 )
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Aliasesfor CACNA1D gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases Calcium Channel, Voltage-Dependent, L Type, Alpha 1D Subunit 1 2 Calcium Channel, L Type, Alpha-1 Polypeptide2 CACNL1A21 2 3 5 Calcium Channel, Neuroendocrine/Brain-Type, Alpha 1 Subunit2 CCHL1A21 2 3 5 Voltage-Dependent L-Type Calcium Channel Subunit Alpha-1D2 CACH31 2 3 Voltage-Gated Calcium Channel Alpha 1 Subunit2 CACN41 2 3 Voltage-Gated Calcium Channel Alpha Subunit Cav1.32 Cav1.31 2 Calcium Channel, L Type, Alpha-1 Polypeptide, Isoform 23 SANDD2 Voltage-Gated Calcium Channel Subunit Alpha Cav1.33
Export aliases for CACNA1D gene to outside databases Previous GC identifers: GC03P052645 GC03P052780 GC03P053383 GC03P053486
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Summariesfor CACNA1D gene (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 CACNA1D : Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, namely alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1D subunit. Several transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Dec 2012) UniProtKB/Swiss-Prot: CAC1D_HUMAN, Q01668 Function : Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are alsoinvolved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1D gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, benzothiazepines, and by omega-agatoxin-IIIA (omega-Aga-IIIA). They are however insensitive to omega-conotoxin-GVIA (omega-CTx-GVIA) and omega-agatoxin-IVA (omega-Aga-IVA) summary
for CACNA1D : Voltage-gated calcium channels (CaV) are present in the membrane of most excitable cells and mediate calciuminflux in response to depolarisation. They regulate intracellular processes such as contraction, secretion,neurotransmission and gene expression. Voltage-gated calcium channels are formed from four or five distinctsubunits; the alpha-subunit is the largest subunit and incorporates the voltage sensor, conduction pore andgating apparatus. Using pharmacological and electrophysiological techniques, at least 6 types ofvoltage-gated channels have been identified: L, N, P, Q, R and T, which are grouped into three families.Cav1.x are high-voltage-activated dihydropyridine-sensitive (L-type), Cav2.x are high-voltage-activateddihydropyridine-insensitive (N-, P- Q- and R-types) and Cav3.x are low-voltage-activated channels (T-type). Gene Wiki entry for CACNA1D (Cav1.3)
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Genomic Viewsfor CACNA1D gene
(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 CACNA1D gene promoter: HOXA9 CREB deltaCREB Nkx2-5 Meis-1 Other transcription factors Search SABiosciences Chromatin IP Primers for CACNA1D Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat CACNA1D
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 3p14.3 Ensembl cytogenetic band: 3p21.1 HGNC cytogenetic band: 3p14.3 CACNA1D Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome 3 GeneLoc Exon Structure
GeneLoc location for GC03P053504: view genomic region
(about GC identifiers )
Start:
53,528,683 bp from pter
End:
53,846,492 bp from pter
Size:
317,810 bases
Orientation:
plus strand
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Proteinsfor CACNA1D gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
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: CAC1D_HUMAN, Q01668 (See
protein sequence )Recommended Name: Voltage-dependent L-type calcium channel subunit alpha-1D Size : 2161 amino acids; 245141 Da
Subunit : Voltage-dependent calcium channels are multisubunit complexes, consisting of alpha-1, alpha-2, beta and deltasubunits in a 1:1:1:1 ratio. The channel activity is directed by the pore-forming and voltage-sensitive alpha-1 subunit. In many cases, this subunit is sufficient to generate voltage-sensitive calcium channel activity. The auxiliary subunits beta and alpha-2/delta linked by a disulfide bridge regulate the channel activity. Interacts (via IQ domain) with CABP1 and CABP4 in a calcium independent manner (By similarity). Interacts with RIMBP2 (By similarity)
Subcellular location : Membrane; Multi-pass membrane protein
1 PDB 3D structure from and Proteopedia for CACNA1D :3LV3 (3D)
 
Secondary accessions : Q13916 Q13931 Q9UDC3Alternative splicing : 2 isoforms : Q01668-1 Q01668-2 Explore the universe of human proteins at neXtProt for CACNA1D: NX_Q01668 Post-translational modifications:
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_Q01668 CACNA1D Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins (3 alternative transcripts):
NP_000711.1 NP_001122311.1 NP_001122312.1 ENSEMBL proteins: ENSP00000288133 ENSP00000288139 ENSP00000409174 ENSP00000418045 ENSP00000418014 ENSP00000438229 ENSP00000440956 Reactome Protein details: Q01668 Human Recombinant Protein Products: Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view) : About this table
CACNA1D for ontologies About GeneDecksing CACNA1D Antibody Products: Assay Products for CACNA1D:
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Protein
Domains / Familiesfor CACNA1D gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
CACNA1D for domains About GeneDecksing 5 InterPro domains/families :
Graphical View of Domain Structure for InterPro Entry Q01668 ProtoNet protein and cluster: Q01668
3 Blocks protein families : IPB002077 Calcium channel signature IPB005446 L-type voltage-dependent calcium channel alpha-1 subunit signature IPB005452 Voltage-dependent L-type calcium channel alpha-1D subunit signature UniProtKB/Swiss-Prot: CAC1D_HUMAN, Q01668 Domain : Each of the four internal repeats contains five hydrophobic transmembrane segments (S1, S2, S3, S5, S6) and onepositively charged transmembrane segment (S4). S4 segments probably represent the voltage-sensor and are characterized by a series of positively charged amino acids at every third position Similarity : Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1D subfamily
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Functionfor CACNA1D gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences ,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene ,
RNAi from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
microRNA from QIAGEN ,
Gene Editing from DNA2.0 ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene .)
About This Section Function Summary: UniProtKB/Swiss-Prot: CAC1D_HUMAN, Q01668 Function : Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are alsoinvolved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1D gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, benzothiazepines, and by omega-agatoxin-IIIA (omega-Aga-IIIA). They are however insensitive to omega-conotoxin-GVIA (omega-CTx-GVIA) and omega-agatoxin-IVA (omega-Aga-IVA)
Genatlas biochemistry entry for CACNA1D : transverse tubule (TT) calcium voltage-gated channel (VDCC),L type,alpha 1D subunit,175kDa,dihydropyridine (DHP) sensitive,isoform 2,neuroendocrine/brain 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 CACNA1D (see all 6 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for CACNA1D (see all 3 )OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 3 ): CACNA1D (NM_001128839 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CACNA1D Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat CACNA1D
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CACNA1D
Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8 ): About this table
CACNA1D for ontologies About GeneDecksing Animal Models: Mouse knock-outs for CACNA1D: Cacna1d tm1Hssh Cacna1d tm1Jst 9 MGI mutant phenotypes (inferred from 4 alleles ) (MGI details for Cacna1d) :
CACNA1D for phenotypes About GeneDecksing
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Pathways & Interactionsfor CACNA1D gene
(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 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene) .
About This Section Unified GeneCards pathways  - 5/44 super-pathways (see all 44 ) About this table See pathways by source Super-pathway contained gene-specific pathways 1 DREAM Repression and Dynorphin Expression 2 PKC-Theta Pathway 3 Sweet Taste Signaling 4 Activation of cAMP-Dependent PKA 5 NFAT and Cardiac Hypertrophy
Pathway sources See GeneCards unified pathways Show all pathways 3 EMD Millipore Pathways for CACNA1D 5/40 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CACNA1D (see all 40 )1 GeneGo (Thomson Reuters) Pathway for CACNA1D 3 BioSystems Pathways for CACNA1D 5/9
Reactome Pathways for CACNA1D (see all 9 )5/6 PharmGKB Pathways for CACNA1D (see all 6 )5/13
Kegg Pathways (Kegg details for CACNA1D) (see all 13 ):
CACNA1D for pathways About GeneDecksing Interactions: Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CACNA1D STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)5/54 Interacting proteins for CACNA1D (Q01668 3 ENSP00000288139 4 ) via UniProtKB, MINT, STRING , and/or I2D (see all 54 )About this table Gene Ontology (GO): 5/17 biological process terms (GO ID links to tree view) (see all 17 ): About this table
GO ID Qualified GO term Evidence PubMed IDs GO:0006112 energy reserve metabolic process
TAS -- GO:0006816 calcium ion transport
IDA 11160515 GO:0007188 adenylate cyclase-modulating G-protein coupled receptor signaling pathway
ISS -- GO:0007411 axon guidance
TAS -- GO:0007605 sensory perception of sound
IMP --
CACNA1D for ontologies About GeneDecksing
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Drugs & Compoundsfor CACNA1D gene (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
CACNA1D for compounds About GeneDecksing Compounds for CACNA1D available from Tocris Bioscience About this table 2 HMDB Compounds for CACNA1D About this table 10/12 DrugBank Compounds for CACNA1D (see all 12 ) About this table 2 Novoseek chemical compound relationships for CACNA1D gene About this table
Search CenterWatch for drugs/clinical trials and news about CACNA1D / CAC1D
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Transcriptsfor CACNA1D gene (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 ,
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 CACNA1D gene (3 alternative transcripts): NM_000720.3 NM_001128839.2 NM_001128840.2 Unigene Cluster for CACNA1D:
Calcium channel, voltage-dependent, L type, alpha 1D subunit Hs.476358 [show with all ESTs ] Unigene Representative Sequence: NM_000720 9 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000350061 ENST00000288139 (uc003dgu.4 uc003dgv.4 uc003dgy.4 uc003dgw.4 uc011bes.2 )ENST00000422281 ENST00000481085 ENST00000464429 ENST00000481478 (uc003dgx.1 )ENST00000498251 ENST00000540742 ENST00000544977 Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for CACNA1D (see all 6 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for CACNA1D (see all 3 )OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 3 ): CACNA1D (NM_001128839 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CACNA1D Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat CACNA1D
Additional cDNA sequence: AB209171.1 AK294397.1 AK294585.1 EU363339.1 M76558.1 M83566.1
4 DOTS entries : DT.92419568 DT.112598
DT.40313005 DT.70100900 24/125 AceView cDNA sequences (see all 125 ):
AA885585 AA861160 NM_000720 AA701888 BE672659 AA703120 CA389011 BI758971 M83566 C21063 AI361691 BQ016847 R46658 AI914244 BE550599 BV197217 N85902 BU182632 N46744 AI248998 BQ549084 AA978315 BQ549571 AI051972 GeneLoc Exon Structure 3 Alternative Splicing Database (ASD) splice patterns (SP) for CACNA1D 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 :                                                    
ExUns: 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40a · 40b ^ 41 ^ 42 ^ 43 ^ 44a · 44b ^ 45 ^ 46 ^ 47 SP1 :                                               SP2 :                                 -               SP3 :                                              
ECgene alternative splicing isoforms for CACNA1D
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Expression for CACNA1D gene
(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 CACNA1D expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: GGTCCTAATA
About this image CACNA1D expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table See CACNA1D Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for CACNA1D SOURCE GeneReport for Unigene cluster: Hs.476358 UniProtKB/Swiss-Prot: CAC1D_HUMAN, Q01668 Tissue specificity : Expressed in pancreatic islets and in brain, where it has been seen in cerebral cortex,hippocampus, basal ganglia, habenula and thalamus. Expressed in the small cell lung carcinoma cell line SCC-9. No expression in skeletal muscle SABiosciences Expression via Pathway-Focused PCR Array including CACNA1D : Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for CACNA1DBrowse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat CACNA1D QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat CACNA1D QIAGEN QuantiFast Probe-based Assays in human , mouse , rat CACNA1D In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CACNA1D
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Orthologsfor CACNA1D gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl 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 CACNA1D gene from 5/23 species (see all 23 ) About this table
Organism
Taxonomic classification
Gene
Description
Human Similarity
Orthology Type
Details
chicken (Gallus gallus)
Aves
CACNA1D1
calcium channel, voltage-dependent, L type, alpha 1D more
80.67(n) 88.51(a)
 
395895 NM_205034.1 NP_990365.1
lizard (Anolis carolinensis)
Reptilia
CACNA1D6
--
88(a)
1 ↔ 1
2(160198924-160388755)
zebrafish (Danio rerio)
Actinopterygii
cacna1da1
calcium channel, voltage-dependent, L type, alpha 1D more
73.36(n) 80.37(a)
 
403310 NM_203484.1 NP_982351.1
fruit fly (Drosophila melanogaster)
Insecta
Ca-alpha1D1 , 3
epithelial fluid transport voltage-gated calcium more 3 Ca[2+]-channel protein alpha[[1]] subunit D1
63(a) 3 62.84(n) 1 66.52(a) 1
 
34950 1 NM_080365.2 1 NP_525104.2 1
worm (Caenorhabditis elegans)
Secernentea
egl-191 , 3
Expression: neurons, preanal ganglion, ring neurons, more 3 Protein EGL-191
66(a) (best of 3)3 61.15(n) 1 65.39(a) 1
 
IV(7405770-7418097)3 177513 1 NM_001027908.2 1 NP_001023079.1 1
ENSEMBL Gene Tree for CACNA1D (if available)TreeFam Gene Tree for CACNA1D (if available)
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Paralogsfor CACNA1D gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for CACNA1D gene CACNA1A 2 SCN5A 2 SCN9A 2 CACNA1I 2 SCN7A 2 CACNA1F 2 SCN8A 2 CACNA1G 2 SCN10A 2 SCN3A 2 CACNA1E 2 SCN2A 2 CACNA1S 2 CACNA1C 2 CACNA1H 2 SCN11A 2 SCN4A 2 SCN1A 2 CACNA1B 2 12 SIMAP similar genes for CACNA1D using alignment to 7 protein entries: CAC1D_HUMAN (see all proteins ):CACNA1S CACNA1H CACNA1F CACNA1C CACNA1B SCN1A SCN5A SCN3A CACNA1A CACNA1E SCN4A SCN9A
CACNA1D for paralogs About GeneDecksing
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Genomic Variantsfor CACNA1D gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
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 )
About This Section UniProtKB/Swiss-Prot: CAC1D_HUMAN, Q01668 Polymorphism : A change from seven to eight ATG trinucleotide repeats, resulting in an additional N-terminal methionine,has been found in a patient with non-insulin-dependent diabetes mellitus (NIDDM)
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical significance Chr 3 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for CACNA1D (53528683 - 53778683 bp, first 250kb of CACNA1D)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for CACNA1D: -- Human Gene Mutation Database (HGMD) : CACNA1D SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing CACNA1D
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Disorders
/ Diseasesfor CACNA1D gene
(in which this Gene is Involved, According to MalaCards ,
OMIM, UniProtKB ,
the University of Copenhagen DISEASES
database , Novoseek ,
Genatlas , GeneTests ,
GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section
CACNA1D for disorders About GeneDecksing
OMIM gene information: 114206
OMIM disorders : --17 diseases for CACNA1D : About MalaCards lambert-eaton myasthenic syndrome congenital stationary night blindness night blindness atrial fibrillation myasthenic syndrome insulinoma blindness diabetes mellitus sinusitis lung carcinoma cerebritis neuroblastoma retinitis schizophrenia carcinoma pancreatitis neuronitis 1 Novoseek disease relationship for CACNA1D gene About this table
Disease
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
insulinoma
48.5
2
8529524 (1), 7760845 (1)
Genetic Association Database (GAD): CACNA1D Human Genome Epidemiology (HuGE) Navigator: CACNA1D (5 documents) Export disorders for CACNA1D gene to outside databases
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Publicationsfor CACNA1D gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section PubMed articles for CACNA1D gene, integrated from 9 sources (see all 70 ): (articles sorted by number of sources associating them with CACNA1D) Utopia : connect your pdf to the dynamic world of online information
The structures of the human calcium channel alpha 1 subunit (CACNL1A2) and beta subunit (CACNLB3) genes. (PubMed id 7557998) 1 , 2 , 9 Yamada Y.... Seino Y. (1995) A brain L-type calcium channel alpha 1 subunit gene (CCHL1A2) maps to mouse chromosome 14 and human chromosome 3. (PubMed id 1664412) 1 , 3, 9 Chin H.M....McBride O.W. (1991) alpha 1D (Cav1.3) subunits can form l-type Ca2+ channels activating at negative voltages. (PubMed id 11285265) 1 , 7 Koschak A....Striessnig J. (2001) Biophysical properties, pharmacology, and modulation of human, neuronal L-type (alpha(1D), Ca(V)1.3) voltage-dependent calcium currents. (PubMed id 11160515) 1 , 7 Bell D.C....Dolphin A.C. (2001) Genomic variation in pancreatic ion channel genes in Japanese type 2 diabetic patients. (PubMed id 11424233) 1 , 4 Yamada Y....Seino Y. (2001) 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) Cloning of the alpha 1 subunit of a voltage-dependent calcium channel expressed in pancreatic beta cells. (PubMed id 1309948) 1 , 2 Seino S....Bell G.I. (1992) Genetic polymorphisms of L-type calcium channel alpha1C and alpha1D subunit genes are associated with sensitivity to the antihypertensive effects of L-type dihydropyridine calcium-channel blockers. (PubMed id 19225208) 1 , 9 Kamide K....Kawano Y. (2009) Functional properties of a newly identified C-terminal splice variant of Cav1.3 L-type Ca2+ channels. (PubMed id 21998310) 1 Bock G....Koschak A. (2011) Functional characterization of alternative splicing in the C terminus of L-type CaV1.3 channels. (PubMed id 21998309) 1 Tan B.Z....Soong T.W. (2011)
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External Searches for CACNA1D gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing CACNA1D gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
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Other Databases showing CACNA1D gene
(According to HUGE )
About This Section --
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Specialized Databases showing CACNA1D gene (According to PharmGKB ,
ATLAS , HORDE , IMGT , LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
Name Description
PharmGKB entry for CACNA1D Pharmacogenomics, SNPs, Pathways
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About This Section Patent Information for CACNA1D gene: Search GeneIP for patents involving CACNA1D GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor CACNA1D gene (Antibodies, recombinant proteins, and assays from EMD Millipore , R&D Systems , OriGene , QIAGEN , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Sino Biological , Enzo Life Sciences , Abcam , ProSpec , Uscn , Thermo Fisher Scientific , Gene Editing from DNA2.0 , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Cell lines from GenScript and LifeMap BioReagents , PCR Arrays from SABiosciences , Drugs and/or compounds from EMD Millipore , Tocris Bioscience , and/or
Enzo Life Sciences ), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
Browse OriGene Antibodies OriGene shRNA RFP for CACNA1D OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for CACNA1D OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for CACNA1D Browse OriGene Protein Over-expression Lysates Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for CACNA1D OriGene 3'-UTR Clone for CACNA1D OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for CACNA1D OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for CACNA1D Browse OriGene GFP tagged cDNA clones in CMV expression vector Browse OriGene MicroRNA Expression Plasmids Browse OriGene basic RS shRNAs Browse OriGene validated miRNA SYBR primer pairs Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for CACNA1D OriGene Custom Protein Services for CACNA1D OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat CACNA1D QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing CACNA1D QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat CACNA1D QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat CACNA1D QIAGEN QuantiFast Probe-based Assays in human , mouse , rat CACNA1D QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat CACNA1D
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CACNA1D
Search ThermoFisher Antibodies for CACNA1D
Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat CACNA1D
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