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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CACNA1D Gene

protein-coding   GIFtS: 62
GCID: GC03P053504

calcium channel, voltage-dependent, L type, alpha 1D subunit


(Previous symbols: CCHL1A2, CACNL1A2)
 Explore 17 diseases affiliated with
CACNA1D via our new
 Human Malady Compendium 
Biological research products
for CACNA1D
    

(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, L Type, Alpha 1D Subunit1 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

External Ids:    HGNC: 13911   Entrez Gene: 7762   Ensembl: ENSG000001573887   OMIM: 1142065   UniProtKB: Q016683   

Export aliases for CACNA1D gene to outside databases

Previous GC identifers: GC03P052645 GC03P052780 GC03P053383 GC03P053486


(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 also
involved 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 calcium
influx 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 distinct
subunits; the alpha-subunit is the largest subunit and incorporates the voltage sensor, conduction pore and
gating apparatus. Using pharmacological and electrophysiological techniques, at least 6 types of
voltage-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-activated
dihydropyridine-insensitive (N-, P- Q- and R-types) and Cav3.x are low-voltage-activated channels (T-type).

Gene Wiki entry for CACNA1D (Cav1.3)


(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

SwitchGear Promoter luciferase reporter plasmidCACNA1D promoter sequence
   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)
CACNA1D gene location

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

(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: 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 delta
subunits 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 Q9UDC3
Alternative 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 PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q01668

  • CACNA1D Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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: 
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    Browse Proteins at Uscn

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005891voltage-gated calcium channel complex IDA1309651
    GO:0030018Z disc ISS--


    CACNA1D 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

    CACNA1D for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR005446 VDCC_L_a1su
     IPR002077 VDCCAlpha1
     IPR014873 VDCC_a1su_IQ
     IPR005821 Ion_trans_dom
     IPR005452 LVDCC_a1dsu

    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 one
    positively 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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, 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 also
    involved 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

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    hsa-miR-607 hsa-miR-3146 hsa-let-7d hsa-miR-938 hsa-let-7a-2* hsa-miR-30d hsa-let-7g hsa-miR-30a
    SwitchGear 3'UTR luciferase reporter plasmidCACNA1D 3' UTR sequence
    Inhib. RNA
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    Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005245voltage-gated calcium channel activity IDA--
    GO:0005515protein binding ----
    GO:0008331contributes to high voltage-gated calcium channel activity IDA1309651
    GO:0030506ankyrin binding ISS--
    GO:0046872metal ion binding IEA--


    CACNA1D for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-outs for CACNA1D: Cacna1dtm1Hssh Cacna1dtm1Jst
         9 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Cacna1d):
     behavior/neurological  cardiovascular system  cellular  endocrine/exocrine gland  growth/size 
     hearing/vestibular/ear  homeostasis/metabolism  mortality/aging  nervous system 

    CACNA1D for phenotypes           About GeneDecksing


    (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 - 5/44 super-pathways (see all 44About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1DREAM Repression and Dynorphin Expression
    DREAM Repression and Dynorphin Expression1.00
    Caspase Cascade0.24
    BMP Pathway0.44
    Calpain Protease Regulates Cellular Mechanics0.22
    nNOS Signaling in Skeletal Muscle0.37
    2PKC-Theta Pathway
    PKC-Theta Pathway1.00
    Fc-EpsilonRI Pathway0.42
    TCR Signaling0.68
    PDGF Pathway0.35
    ITK and TCR Signaling0.54
    3Sweet Taste Signaling
    Sweet Taste Signaling1.00
    Cellular Effects of Sildenafil0.46
    Melatonin Signaling0.72
    4Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA1.00
    PKA Signaling0.56
    cAMP Pathway0.77
    5NFAT and Cardiac Hypertrophy
    NFAT and Cardiac Hypertrophy1.00
    IGF1R Signaling0.37
    Signaling Involved in Cardiac Hypertrophy0.42

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    3 EMD Millipore Pathways for CACNA1D
        Synaptic transmission- ion currents
    Transcription CREB pathway
    Calcium channels

    5/40 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CACNA1D (see all 40)
        Caspase Cascade
    Fc-GammaR Pathway
    Intracellular Calcium Signaling
    PDGF Pathway
    BMP Pathway

    1 GeneGo (Thomson Reuters) Pathway for CACNA1D
        Transcription CREB pathway

    3 BioSystems Pathways for CACNA1D 
        Calcium Regulation in the Cardiac Cell
    Alzheimers Disease
    Arrhythmogenic right ventricular cardiomyopathy

    5/9        Reactome Pathways for CACNA1D (see all 9)
        Developmental Biology
    NCAM1 interactions
    Metabolism
    Regulation of Insulin Secretion
    NCAM signaling for neurite out-growth

    5/6 PharmGKB Pathways for CACNA1D (see all 6)
        Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics
    Antiarrhythmic Pathway, Pharmacodynamics
    Beta-agonist/Beta-blocker Pathway, Pharmacodynamics
    Celecoxib Pathway, Pharmacodynamics
    Sympathetic Nerve Pathway (Neuroeffector Junction)

    5/13         Kegg Pathways  (Kegg details for CACNA1D) (see all 13):
        MAPK signaling pathway
    Calcium signaling pathway
    Cardiac muscle contraction
    Vascular smooth muscle contraction
    Glutamatergic synapse


    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 (Q016683 ENSP000002881394) via UniProtKB, MINT, STRING, and/or I2D (see all 54)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CACNB4O003053, ENSP000003435634I2D: score=1 STRING: ENSP00000343563
    CALB1P059373, ENSP000002654314I2D: score=1 STRING: ENSP00000265431
    STX1AQ166233, ENSP000002228124I2D: score=2 STRING: ENSP00000222812
    GABBR2O758993I2D: score=1 
    CACNA1CENSP000002663764STRING: ENSP00000266376
    About this table

    Gene Ontology (GO): 5/17 biological process terms (GO ID links to tree view) (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006112energy reserve metabolic process TAS--
    GO:0006816calcium ion transport IDA11160515
    GO:0007188adenylate cyclase-modulating G-protein coupled receptor signaling pathway ISS--
    GO:0007411axon guidance TAS--
    GO:0007605sensory perception of sound IMP--


    CACNA1D 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

    CACNA1D for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for CACNA1D available from Tocris Bioscience    About this table
    CompoundAction CAS #
    FPL 64176Potent activator of Ca2+ channels (L-type)[120934-96-5]
    NimodipineCa2+ channel blocker (L-type)[66085-59-4]
    (S)-(-)-Bay K 8644Ca2+-channel activator (L-type)[98625-26-4]
    (±)-Bay K 8644Ca2+-channel activator (L-type)[71145-03-4]
    IsradipineCa2+ channel blocker (L-type)[75695-93-1]

    2 HMDB Compounds for CACNA1D    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    VerapamilAkilen (see all 107)52-53-9--

    10/12 DrugBank Compounds for CACNA1D (see all 12)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    NimodipineNimodipino [INN-Spanish] (see all 2)66085-59-4targetinhibitor20335610 17705883 20334460 19844625 20661350 19029287
    Mibefradil-- 116644-53-2targetinhibitor10372226 10665814 16899990
    Cinnarizine-- 298-57-7targetinhibitor3530295 1281221
    Isradipine(+/-)-Isradipine (see all 5)75695-93-1targetinhibitor11285265 19029287
    Nifedipine-- 21829-25-4targetinhibitor11160515 19029287
    AmlodipineAmlodipine Benzenesulfonate (see all 6)88150-42-9targetinhibitor19029287
    FelodipineDl-Felodipine (see all 4)72509-76-3targetinhibitor19029287
    NicardipineNicardipine HCl (see all 3)55985-32-5targetinhibitor11160515
    Nilvadipine-- 75530-68-6targetinhibitor19029287
    NisoldipineNisoldipin (see all 3)63675-72-9targetinhibitor19029287

    2 Novoseek chemical compound relationships for CACNA1D gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    calcium 54.1 24 1664412 (2), 7760845 (2), 8392192 (1), 1316766 (1) (see all 18)
    sodium 7.58 1 15072700 (1)

    Search CenterWatch for drugs/clinical trials and news about CACNA1D / CAC1D 

    (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,
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    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

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    8/48 QIAGEN miScript miRNA Assays for microRNAs that regulate CACNA1D (see all 48):
    hsa-miR-607 hsa-miR-3146 hsa-let-7d hsa-miR-938 hsa-let-7a-2* hsa-miR-30d hsa-let-7g hsa-miR-30a
    SwitchGear 3'UTR luciferase reporter plasmidCACNA1D 3' UTR sequence
    Inhib. RNA
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    Clone
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    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

    (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 imageBioGPS
    CGAP TAG: GGTCCTAATA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    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
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Skeletal MuscleHyoid Arch MusclesMononuclear MyocytesSkeletal Muscle
    Skeletal MuscleMandibular Arch MusclesMononuclear MyocytesSkeletal Muscle
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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: 
              Neuronal Ion Channels in human mouse rat

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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 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 more3
    Ca[2+]-channel protein alpha[[1]] subunit D1
    63(a)3
    62.84(n)1
    66.52(a)1
      349501  NM_080365.21  NP_525104.21 
    worm
    (Caenorhabditis elegans)
    Secernentea egl-191 , 3 Expression: neurons, preanal ganglion, ring
    neurons, more3
    Protein EGL-191
    66(a)
    (best of 3)3
    61.15(n)1
    65.39(a)1
      IV(7405770-7418097)3
    1775131  NM_001027908.21  NP_001023079.11 


    ENSEMBL Gene Tree for CACNA1D (if available)
    TreeFam Gene Tree for CACNA1D (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CACNA1D gene
    CACNA1A2  SCN5A2  SCN9A2  CACNA1I2  SCN7A2  CACNA1F2  SCN8A2  CACNA1G2  
    SCN10A2  SCN3A2  CACNA1E2  SCN2A2  CACNA1S2  CACNA1C2  CACNA1H2  SCN11A2  
    SCN4A2  SCN1A2  CACNA1B2  
    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



    (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)
    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)


    10/5590 NCBI SNPs in CACNA1D are shown (see all 5590    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs756291231,2
    --53527071(+) GAATTT/CTGTAG 3 -- us2k11Minor allele frequency- C:0.01WA 118
    rs1868498651,2
    --53527167(+) GGCTAA/GTTTCT 3 -- us2k10--------
    rs3124841,2
    C,F,A,--53527289(-) GAGACT/CGGAGA 3 -- us2k110Minor allele frequency- C:0.31MN NA WA CSA EA 554
    rs37558151,2
    C,F,--53527293(+) CAGTCT/GCCAAA 3 -- us2k15Minor allele frequency- G:0.31NA EA 246
    rs1447958651,2
    --53527393(+) CTGGTC/TCCCAG 3 -- us2k10--------
    rs1386299571,2
    --53527395(+) GGTCCC/GCAGTC 3 -- us2k10--------
    rs37558161,2
    C,F,--53527439(+) GACTAG/CTGTGT 3 -- us2k1 tfbs31Minor allele frequency- C:0.14EA 120
    rs1501014711,2
    C,--53528057(+) CCCAA-/CCCCCC 3 -- us2k10--------
    rs1417394081,2
    --53528175(+) CTACCA/GCCCGC 3 -- us2k10--------
    rs1489396111,2
    C,--53528230(+) AGAGG-/AGAGGC 3 -- us2k10--------

    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

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    (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

    (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)
    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

    1. 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)
    2. 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)
    3. 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)
    4. 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)
    5. Genomic variation in pancreatic ion channel genes in Japanese type 2 diabetic patients. (PubMed id 11424233)1, 4 Yamada Y....Seino Y. (2001)
    6. 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)
    7. 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)
    8. 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)
    9. 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)
    10. 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)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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)
    About This Section
    Entrez Gene: 776 HGNC: 1391 AceView: CACNA1D Ensembl:ENSG00000157388 euGenes: HUgn776
    ECgene: CACNA1D Kegg: 776 H-InvDB: CACNA1D

    (According to HUGE)
    About This Section
      --

    (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
    NameDescription
    PharmGKB entry for CACNA1D Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    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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