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

CACNA1G Gene

protein-coding   GIFtS: 70
GCID: GC17P048639

Calcium Channel, Voltage-Dependent, T Type, Alpha 1G Subunit

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Calcium Channel, Voltage-Dependent, T Type, Alpha 1G Subunit1 2     cav3.1c2
Voltage-Gated Calcium Channel Subunit Alpha Cav3.12 3     Voltage-Dependent Calcium Channel Alpha 1G Subunit2
NBR132 3     Voltage-Dependent T-Type Calcium Channel Subunit Alpha-1G2
Ca(V)T.12     Cav3.1c3
Cav3.12     KIAA11233

External Ids:    HGNC: 13941   Entrez Gene: 89132   Ensembl: ENSG000000062837   OMIM: 6040655   UniProtKB: O434973   

Export aliases for CACNA1G gene to outside databases

Previous GC identifers: GC17P048351 GC17P051119 GC17P048980 GC17P049113 GC17P045993 GC17P044006


(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 CACNA1G Gene:
Voltage-sensitive 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,
gene expression, cell motility, cell division, and cell death. This gene encodes a T-type, low-voltage activated
calcium channel. The T-type channels generate currents that are both transient, owing to fast inactivation, and
tiny, owing to small conductance. T-type channels are thought to be involved in pacemaker activity, low-threshold
calcium spikes, neuronal oscillations and resonance, and rebound burst firing. Many alternatively spliced
transcript variants encoding different isoforms have been described for this gene. (provided by RefSeq, Sep 2011)

GeneCards Summary for CACNA1G Gene: 
CACNA1G (calcium channel, voltage-dependent, T type, alpha 1G subunit) is a protein-coding gene. Diseases associated with CACNA1G include childhood absence epilepsy, and pancreatic endocrine tumor, and among its related super-pathways are Nicotine Pathway (Chromaffin Cell), Pharmacodynamics and PKC-Theta Pathway. GO annotations related to this gene include scaffold protein binding and low voltage-gated calcium channel activity. An important paralog of this gene is SCN5A.

UniProtKB/Swiss-Prot: CAC1G_HUMAN, O43497
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-1G
gives rise to T-type calcium currents. T-type calcium channels belong to the "low-voltage activated (LVA)" group
and are strongly blocked by mibefradil. A particularity of this type of channel is an opening at quite negative
potentials and a voltage-dependent inactivation. T-type channels serve pacemaking functions in both central
neurons and cardiac nodal cells and support calcium signaling in secretory cells and vascular smooth muscle. They
may also be involved in the modulation of firing patterns of neurons which is important for information
processing as well as in cell growth processes

summary for CACNA1G Gene:
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 CACNA1G 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.2  NT_010783.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CACNA1G gene promoter:
         E2F-3a   E2F-4   E2F-5   Sp1   p300   E2F-2   E2F-1   E2F   COMP1   HOXA5   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCACNA1G promoter sequence
   Search SABiosciences Chromatin IP Primers for CACNA1G

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CACNA1G


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

Entrez Gene cytogenetic band: 17q22   Ensembl cytogenetic band:  17q21.33   HGNC cytogenetic band: 17q22

CACNA1G Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CACNA1G gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P048639:  view genomic region     (about GC identifiers)

Start:
48,638,429 bp from pter      End:
48,704,835 bp from pter
Size:
66,407 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CAC1G_HUMAN, O43497 (See protein sequence)
Recommended Name: Voltage-dependent T-type calcium channel subunit alpha-1G  
Size: 2377 amino acids; 262472 Da
Subcellular location: Membrane; Multi-pass membrane protein
Developmental stage: Isoform 4, isoform 7, isoform 18, isoform 19, isoform 24, isoform 25 and isoform 31 are
adult-specific. Isoform 8, isoform 14, isoform 15, isoform 16, isoform 17, isoform 20, isoform 21, isoform 22,
isoform 23, isoform 26, isoform 27, isoform 28, isoform 29 and isoform 30 are fetal-specific. Isoform 1, isoform
2, isoform 6, isoform 9, isoform 11, isoform 12 and isoform 13 are expressed in both fetus and adult
Secondary accessions: D6RA64 E7EPR0 O43498 O94770 Q19QY8 Q19QY9 Q19QZ0 Q19QZ1 Q19QZ2 Q19QZ3
Q19QZ4 Q19QZ5 Q19QZ6 Q19QZ7 Q19QZ8 Q19QZ9 Q19R00 Q19R01 Q19R02 Q19R03 Q19R04 Q19R05 Q19R06
Q19R07 Q19R08 Q19R09 Q19R10 Q19R11 Q19R12 Q19R13 Q19R15 Q19R16 Q19R17 Q19R18 Q2TAC4 Q9NYU4
Q9NYU5 Q9NYU6 Q9NYU7 Q9NYU8 Q9NYU9 Q9NYV0 Q9NYV1 Q9UHN9 Q9UHP0 Q9ULU6 Q9UNG7 Q9Y5T2 Q9Y5T3
Alternative splicing: 35 isoforms:  O43497-1   O43497-2   O43497-3   O43497-4   O43497-5   O43497-6   O43497-7   O43497-8   
O43497-9   O43497-10   O43497-11   O43497-12   O43497-13   O43497-15   O43497-16   O43497-17   
O43497-18   O43497-19   O43497-20   O43497-21   O43497-22   O43497-23   O43497-24   O43497-25   
O43497-26   O43497-27   O43497-28   O43497-29   O43497-30   O43497-31   O43497-32   O43497-33   
O43497-34   O43497-35   O43497-36   (Gene prediction based on EST data)

Explore the universe of human proteins at neXtProt for CACNA1G: NX_O43497

Explore proteomics data for CACNA1G at MOPED 

Post-translational modifications:

  • UniProtKB: In response to raising of intracellular calcium, the T-type channels are activated by CaM-kinase II
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O43497

  • CACNA1G Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CACNA1G Protein Expression
    REFSEQ proteins (28 alternative transcripts): 
    NP_001243253.1  NP_001243254.1  NP_001243255.1  NP_001243256.1  NP_001243257.1  NP_001243258.1  NP_001243259.1  NP_001243260.1  
    NP_001243261.1  NP_001243262.1  NP_001243263.1  NP_001243288.1  NP_001243289.1  NP_001243290.1  NP_061496.2  NP_938190.1  
    NP_938191.2  NP_938192.1  NP_938193.1  NP_938194.1  NP_938196.1  NP_938197.1  NP_938198.1  NP_938199.1  
    NP_938200.1  NP_938201.1  NP_938202.1  NP_938406.1  

    ENSEMBL proteins: 
     ENSP00000353990   ENSP00000339302   ENSP00000409759   ENSP00000392390   ENSP00000425522  
     ENSP00000426261   ENSP00000425451   ENSP00000422407   ENSP00000426814   ENSP00000427238  
     ENSP00000423112   ENSP00000427247   ENSP00000420918   ENSP00000426313   ENSP00000425153  
     ENSP00000426172   ENSP00000423045   ENSP00000427231   ENSP00000427173   ENSP00000426098  
     ENSP00000425698   ENSP00000426232   ENSP00000423317   ENSP00000421518   ENSP00000424664  
     ENSP00000422268   ENSP00000426558   ENSP00000423155   ENSP00000414388   ENSP00000352011  
     ENSP00000350979   ENSP00000459988   ENSP00000427697   ENSP00000347078  
    Reactome Protein details: O43497
    Human Recombinant Protein Products for CACNA1G: 
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    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane ----
    GO:0005891voltage-gated calcium channel complex IEA--
    GO:0016020membrane ----
    GO:0016021integral to membrane ----

    CACNA1G for ontologies           About GeneDecksing



    CACNA1G Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    CACN: Calcium channel subunits
    CACN1: Voltage-gated ion channels / Calcium channels

    IUPHAR Guide to PHARMACOLOGY protein family classification: Cav3.1 
    Voltage-gated calcium channels

    4 InterPro protein domains:
     IPR027359 K_channel_four-helix_dom
     IPR002077 VDCCAlpha1
     IPR005821 Ion_trans_dom
     IPR005445 VDCC_T_a1su

    Graphical View of Domain Structure for InterPro Entry O43497

    ProtoNet protein and cluster: O43497

    1 Blocks protein domain: IPB005445 T-type voltage-dependent calcium channel alpha-1 subunit signature

    UniProtKB/Swiss-Prot: CAC1G_HUMAN, O43497
    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
    Domain: The linker region between repeat III and IV probably plays a role in the inactivation of the channel. The
    C-terminal part may be implicated in the anchoring of the protein to the membrane by interfering with or
    restricting its lateral diffusion
    Similarity: Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1G subfamily


    CACNA1G for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CAC1G_HUMAN, O43497
    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-1G
    gives rise to T-type calcium currents. T-type calcium channels belong to the "low-voltage activated (LVA)" group
    and are strongly blocked by mibefradil. A particularity of this type of channel is an opening at quite negative
    potentials and a voltage-dependent inactivation. T-type channels serve pacemaking functions in both central
    neurons and cardiac nodal cells and support calcium signaling in secretory cells and vascular smooth muscle. They
    may also be involved in the modulation of firing patterns of neurons which is important for information
    processing as well as in cell growth processes

         Genatlas biochemistry entry for CACNA1G:
    calcium low activated (LVA) voltage-gated channel,T (fast inactivation,small conductance) type, neuronal alpha 1G
    subunit,predominantly expressed in brain,aberrantly methylated and inactivated in cancer,colon,gastric carcinomas
    and in leukemia

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005216ion channel activity ----
    GO:0005245voltage-gated calcium channel activity ----
    GO:0005515protein binding ----
    GO:0008332low voltage-gated calcium channel activity IDA--
    GO:0097110scaffold protein binding IPI--
         
    CACNA1G for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for CACNA1G:
     Decreased G3BP1 protein expres  Increased gamma-H2AX phosphory  Synthetic lethal with c-Myc af 

         6 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Cacna1g):
     behavior/neurological  cardiovascular system  growth/size  homeostasis/metabolism  nervous system 
     no phenotypic analysis 

    CACNA1G for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for CACNA1G: Cacna1gtm1.1Stl Cacna1gtm1.1Abp Cacna1gtm1Hssh Cacna1gtm1Dgen

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CACNA1G 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CACNA1G 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CACNA1G 

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidCACNA1G 3' UTR sequence
    Inhib. RNA
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    Clone
    Products:
         
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CACNA1G


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CACNA1G About   (see all 28)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Nicotine Activity on Chromaffin Cells
    Nicotine Pathway (Chromaffin Cell), Pharmacodynamics1.00
    Nicotine Activity on Chromaffin Cells1.00
    2PKC-Theta Pathway
    TCR Signaling0.68
    Fc-EpsilonRI Pathway0.49
    PKC-Theta Pathway0.68
    PDGF Pathway0.39
    ITK and TCR Signaling0.54
    3DREAM Repression and Dynorphin Expression
    DREAM Repression and Dynorphin Expression0.44
    Caspase Cascade0.36
    BMP Pathway0.44
    Calpain Protease Regulates Cellular Mechanics0.31
    nNOS Signaling in Skeletal Muscle0.37
    4Sweet Taste Signaling
    Sweet Taste Signaling0.72
    Cellular Effects of Sildenafil0.46
    Melatonin Signaling0.72
    Sperm Motility0.37
    5Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA0.77
    PKA Signaling0.56
    cAMP Pathway0.77

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 EMD Millipore Pathways for CACNA1G
        Synaptic transmission- ion currents
    Transcription CREB pathway
    Calcium channels

    5/37 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CACNA1G (see all 37)
        Caspase Cascade
    Fc-GammaR Pathway
    Intracellular Calcium Signaling
    PDGF Pathway
    BMP Pathway

    1 GeneGo (Thomson Reuters) Pathway for CACNA1G
        Transcription CREB pathway

    2 BioSystems Pathways for CACNA1G
        Nicotine Activity on Chromaffin Cells
    Regulation of Wnt-mediated beta catenin signaling and target gene transcription

    4        Reactome Pathways for CACNA1G
        Developmental Biology
    NCAM1 interactions
    NCAM signaling for neurite out-growth
    Axon guidance

    3 PharmGKB Pathways for CACNA1G
        Antiarrhythmic Pathway, Pharmacodynamics
    Celecoxib Pathway, Pharmacodynamics
    Nicotine Pathway (Chromaffin Cell), Pharmacodynamics

    4         Kegg Pathways  (Kegg details for CACNA1G):
        MAPK signaling pathway
    Calcium signaling pathway
    Circadian entrainment
    Type II diabetes mellitus


    CACNA1G for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CACNA1G

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/51 Interacting proteins for CACNA1G (O434972, 3 ENSP000003520114) via UniProtKB, MINT, STRING, and/or I2D (see all 51)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBQLN4Q9NRR52, 3, ENSP000003572924MINT-2865560 I2D: score=3 STRING: ENSP00000357292
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    WNK1Q9H4A33I2D: score=1 
    YWHAZP631043I2D: score=1 
    CACNA1CENSP000002663764STRING: ENSP00000266376
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001508regulation of action potential ----
    GO:0002027regulation of heart rate IEA--
    GO:0006810transport TAS9495342
    GO:0006811ion transport ----
    GO:0007268synaptic transmission IEA--

    CACNA1G for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CACNA1G for compounds           About GeneDecksing

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

    Compounds for CACNA1G available from Tocris Bioscience    About this table
    CompoundAction CAS #
    omega-Conotoxin GVIACa2+ channel blocker (N-type)[106375-28-4]
    (+-)-Bay K 8644Ca2+-channel activator (L-type)[71145-03-4]
    NNC 55-0396 dihydrochlorideHighly selective Ca2+ channel blocker (T-type)[357400-13-6]
    PregabalinAnticonvulsant. Selectively binds the alpha2delta subunit of voltage-sensitive calcium channels[148553-50-8]
    Mibefradil dihydrochlorideCa2+ channel blocker (T-type)[116644-53-2]

    2 HMDB Compounds for CACNA1G    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    VerapamilAkilen (see all 107)52-53-9--

    8 DrugBank Compounds for CACNA1G    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    ZonisamideZonisamida [Spanish] (see all 2)68291-97-4targetinhibitor20025128 17762320 14704463 17139284 19557119 14965331 17016423 18433351 20001433 15511691 19948168 20502722
    Mibefradil-- 116644-53-2targetinhibitor10692398 11752352 9375939 16899990 15562257 9481612
    TrimethadioneTrimetadione (see all 3)127-48-0targetinhibitor16171802 17139284 17291698 11752352 17016423
    EthosuximideAethosuximide (see all 5)77-67-8targetinhibitor19005061 11752352 11274992 11641441
    Flunarizine(E)-1-[Bis-(p-fluorophenyl)methyl]-4-cinnamylpiperazine (see all 6)52468-60-7targetinhibitor19582593 17139284 11784784 17016423
    Methsuximide(RS)-1,3-Dimethyl-3-phenyl-2,5-pyrrolidindion (see all 15)77-41-8targetinhibitor19005061 2545161 11274992 11641441
    VerapamilVerapamil [Usan:Ban:Inn] (see all 4)52-53-9targetinhibitor16699084 11752352 19125880
    Cinnarizine-- 298-57-7targetinhibitor3530295 1281221

    5 IUPHAR Ligands for CACNA1G (Cav3.1)    About this table 
    LigandTypeActionAffinityPubmed IDs
    mibefradil
    Pore BlockerAntagonist6 - 6.610991994
    anandamide
    Pore BlockerAntagonist5.411742980
    SB209712
    Channel blockerNone5.4--
    kurtoxin
    Channel blockerNone5.4--
    Ni2+
    Channel blockerNone5.4--

    4 Novoseek inferred chemical compound relationships for CACNA1G gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    o6-methylguanine 52.2 2 12730870 (1), 12584572 (1)
    calcium 38.7 18 10493502 (3), 19211869 (2), 11136856 (2), 20398362 (1) (see all 12)
    retinoic acid 28.5 4 12730870 (1), 16699497 (1), 12584572 (1), 17270239 (1)
    estrogen 0 2 12730870 (1), 12584572 (1)

    Search CenterWatch for drugs/clinical trials and news about CACNA1G / CAC1G

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CACNA1G gene (29 alternative transcripts): 
    NM_001256324.1  NM_001256325.1  NM_001256326.1  NM_001256327.1  NM_001256328.1  NM_001256329.1  NM_001256330.1  NM_001256331.1  
    NM_001256332.1  NM_001256333.1  NM_001256334.1  NM_001256359.1  NM_001256360.1  NM_001256361.1  NM_018896.4  NM_198376.2  
    NM_198377.2  NM_198378.2  NM_198379.2  NM_198380.2  NM_198382.2  NM_198383.2  NM_198384.2  NM_198385.2  
    NM_198386.2  NM_198387.2  NM_198388.2  NM_198396.2  NM_198397.1  

    Unigene Cluster for CACNA1G:

    Calcium channel, voltage-dependent, T type, alpha 1G subunit
    Hs.591169  [show with all ESTs]
    Unigene Representative Sequence: NM_018896
    18/34 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 34):
    ENST00000360761 ENST00000352832(uc002iro.1) ENST00000442258 ENST00000416767(uc002iri.1)
    ENST00000502264 ENST00000512389 ENST00000513964 ENST00000514717 ENST00000510366
    ENST00000503485 ENST00000507510 ENST00000511765 ENST00000507336 ENST00000506406
    ENST00000504076 ENST00000513689 ENST00000507609 ENST00000503436
    miRNA
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    hsa-miR-28-3p hsa-miR-3163 hsa-miR-137 hsa-miR-1271 hsa-miR-181a-2* hsa-miR-2116* hsa-miR-629* hsa-miR-544
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    Additional mRNA sequence: 

    AB012043.1 AB032949.2 AF029229.1 AF124351.1 AF126965.1 AF126966.1 AF134985.1 AF134986.1 
    AF190860.1 AF227744.1 AF227745.1 AF227746.1 AF227747.1 AF227748.1 AF227749.1 AF227750.1 
    AF227751.1 AK296513.1 BC110995.1 NR_046054.1 NR_046055.1 NR_046056.1 NR_046057.1 NR_046058.1 

    21 DOTS entries:

    DT.101984766  DT.101984767  DT.91706999  DT.120971118  DT.95164735  DT.102836581  DT.120971099  DT.100782948 
    DT.40130397  DT.100782947  DT.120971107  DT.91707040  DT.91707005  DT.120971061  DT.454910  DT.95164733 
    DT.120971068  DT.120971058  DT.120971064  DT.120971132  DT.97840220 

    24/79 AceView cDNA sequences (see all 79):

    NM_198383 NM_198382 AF227746 AF126966 NM_198388 AF227751 BM451648 AF134986 
    NM_198396 NM_198377 NM_198386 AF126965 NM_198384 NM_198380 AA716563 NM_018896 
    AF227744 NM_198387 AF227745 NM_198379 NM_198397 AB032949 BF808123 AF134985 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for CACNA1G (see all 6)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18a · 18b ^ 19a · 19b · 19c ^ 20 ^ 21 ^
    SP1:                                                                                                                          -                 -     -         
    SP2:                                                                                                                                                            
    SP3:                                                                                                                          -                                 
    SP4:                                                                                                                                            -               
    SP5:                                            -                                                                                                               

    ExUns: 22 ^ 23 ^ 24a · 24b ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31a · 31b
    SP1:                                            -                           
    SP2:                                                                        
    SP3:                                                                        
    SP4:                                                                        
    SP5:                                                                        


    ECgene alternative splicing isoforms for CACNA1G

    (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

    CACNA1G expression in normal human tissues (normalized intensities)      CACNA1G embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCTGCCTCGC
    CACNA1G Expression
    About this image


    CACNA1G expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 18 entries
             Thalamus
             Septum   
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Dorsal Horn   
     
     Bone (Muscoskeletal System)
             Zeugopod Epiphyseal End
     
     Blood (Hematopoietic System)
             Proerythroblasts Hematopoietic Bone Marrow
     
     Pancreas (Endocrine System)

    See CACNA1G Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CACNA1G

    SOURCE GeneReport for Unigene cluster: Hs.591169

    UniProtKB/Swiss-Prot: CAC1G_HUMAN, O43497
    Tissue specificity: Highly expressed in brain, in particular in the amygdala, subthalamic nuclei, cerebellum and
    thalamus. Moderate expression in heart; low expression in placenta, kidney and lung. Also expressed in colon and
    bone marrow and in tumoral cells to a lesser extent. Highly expressed in fetal brain, but also in peripheral
    fetal tissues as heart, kidney and lung, suggesting a developmentally regulated expression

        SABiosciences Expression via Pathway-Focused PCR Array including CACNA1G: 
              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 CACNA1G gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cacna1g1 , 5 calcium channel, voltage-dependent, T type, alpha 1G more1, 5 89.63(n)1
    94.7(a)1
      11 (58.90 cM)5
    122911  NM_009783.31  NP_033913.21 
     944083915 
    chicken
    (Gallus gallus)
    Aves CACNA1G1 calcium channel, voltage-dependent, T type, alpha 1G more 75.37(n)
    76.77(a)
      769385  XM_001232653.2  XP_001232654.2 
    lizard
    (Anolis carolinensis)
    Reptilia CACNA1G6
    Uncharacterized protein
    73(a)
    1 ↔ 1
    2(116960657-117171516)
    zebrafish
    (Danio rerio)
    Actinopterygii cacna1g1 calcium channel, voltage-dependent, T type, alpha 1G more 66.76(n)
    68.7(a)
      563904  XM_001920515.3  XP_001920550.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta Ca-alpha1T3 calcium channel 54(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea cca-13 Skeletal muscle calcium channel alpha-1
    subunit
    58(a)   X(7884813-7896426)   --


    ENSEMBL Gene Tree for CACNA1G (if available)
    TreeFam Gene Tree for CACNA1G (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CACNA1G gene
    SCN5A2  SCN9A2  CACNA1D2  SCN7A2  CACNA1I2  CACNA1F2  SCN8A2  SCN10A2  
    SCN3A2  SCN2A2  CACNA1H2  CACNA1C2  CACNA1S2  SCN11A2  SCN4A2  SCN1A2  
    9 SIMAP similar genes for CACNA1G using alignment to 3 protein entries:     CAC1G_HUMAN (see all proteins):
    CACNA1H    SCN3A    CACNA1E    SCN5A    CACNA1I    CACNA1A
    CACNA1B    CACNA1C    SCN4A

    CACNA1G for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    10/1559 SNPs in CACNA1G are shown (see all 1559)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1505071351,2
    C--44010690(+) GGGGT-/GGGGGC 33 -- int10--------
    rs584501421,2
    C--44014333(+) TGTGT-/GG/GTGTGTGTGTGTGT
    GTTG
    /GTGTGTGTGTTG/TG
    TGTGT
    89 -- int1 cds11CSA 2
    rs676227171,2
    C--44051737(+) GACCT-/TGG   
       
    /TGGA
    GGAGC
    61 -- int1 cds10--------
    rs674669601,2
    C,F--44053884(+) CCATGAT/-ATATA 33 -- int12Minor allele frequency- -:0.50NA CSA 4
    rs671521021,2
    C--48641487(+) AGGAA-/GT    
       
    /GTGT
    GTGTG
    33 -- int11NA 2
    rs610365811,2
    C--48641489(+) TGTGT-/GTGT  
            
    TGCAA
    33 -- int11Minor allele frequency- GTGT:0.00NA 2
    rs2021036231,2
    C--48658756(+) GGGGG-/GCGGGC 33 -- int10--------
    rs343568221,2
    C--48667254(+) CATTT-/C/CTCT
    CTCTC
    /TC
    TTCTC
    61 -- int1 cds10--------
    rs349264731,2
    C,F--48668022(+) AGGAAT/-GGTAG 33 -- int13Minor allele frequency- -:0.50NA CSA 6
    rs343459671,2
    C--48683753(+) CTGGATGGA/-  
            
    GCAGC
    33 -- int11Minor allele frequency- -:0.00CSA 2

    HapMap Linkage Disequilibrium report for CACNA1G (48638429 - 48704835 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/11 variations for CACNA1G (see all 11):    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv111873CNV Insertion16902084
    nsv111816CNV Insertion16902084
    esv1506174CNV Insertion17803354
    esv989095CNV Insertion20482838
    dgv3230n71CNV Loss21882294
    nsv908605CNV Loss21882294
    dgv3229n71CNV Loss21882294
    nsv908608CNV Loss21882294
    nsv833477CNV Loss17160897
    dgv42n68CNV Loss17160897


    Human Gene Mutation Database (HGMD): CACNA1G
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604065    OMIM disorders: --

    18 diseases for CACNA1G:    About MalaCards
    childhood absence epilepsy    pancreatic endocrine tumor    idiopathic generalized epilepsy    varicocele
    colorectal cancer    duodenitis    acute myeloid leukemia    retinoblastoma
    myeloid leukemia    colon cancer    neuronitis    diabetes mellitus
    pancreatitis    squamous cell carcinoma    melanoma    adenocarcinoma
    leukemia    breast cancer

    1 disease from the University of Copenhagen DISEASES database for CACNA1G:
    Colorectal cancer

    CACNA1G for disorders           About GeneDecksing

    6 Novoseek inferred disease relationships for CACNA1G gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    microsatellite instability 89.6 2 19470733 (1), 19789368 (1)
    colorectal cancer 76.5 11 17065427 (1), 17339237 (1), 17239930 (1), 18084250 (1) (see all 11)
    tumors 46.3 9 10493502 (3), 19686742 (1), 12730870 (1), 16699497 (1) (see all 7)
    colorectal carcinoma 30.8 2 16931963 (1), 17372756 (1)
    cancer 30 1 10493502 (1)
    carcinoma 2.04 3 16699497 (1)

    Genetic Association Database (GAD): CACNA1G
    Human Genome Epidemiology (HuGE) Navigator: CACNA1G (9 documents)

    Export disorders for CACNA1G 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 CACNA1G gene, integrated from 9 sources (see all 113):
    (articles sorted by number of sources associating them with CACNA1G)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular and functional properties of the human alpha1G subunit that forms T-type calcium channels. (PubMed id 10692398)1, 2, 7, 9 Monteil A....Nargeot J. (2000)
    2. Molecular characterization of a neuronal low-voltage-activated T-type calcium channel. (PubMed id 9495342)1, 2, 3 Perez-Reyes E.... Lee J.-H. (1998)
    3. Inactivation of CACNA1G, a T-type calcium channel gene, by aberrant methylation of its 5' CpG island in human tumors. (PubMed id 10493502)1, 2, 9 Toyota M.... Issa J.-P.J. (1999)
    4. Mutational analysis of CACNA1G in idiopathic generalized epilepsy. Mutation in brief #962. Online. (PubMed id 17397049)1, 4, 9 Singh B....Yamakawa K. (2007)
    5. Molecular cloning and functional expression of ca(v)3.1c, a T-type calcium channel from human brain. (PubMed id 10648811)1, 2, 9 Cribbs L.L.... Perez-Reyes E. (2000)
    6. Structure and alternative splicing of the gene encoding alpha1G, a human brain T calcium channel alpha1 subunit. (PubMed id 10548410)1, 2, 9 Mittman S.... Agnew W.S. (1999)
    7. Identification of type 2 diabetes-associated combinat ion of SNPs using support vector machine. (PubMed id 20416077)1, 4 Ban H.J....Park K.J. (2010)
    8. High-density SNP association study of the 17q21 chrom osomal region linked to autism identifies CACNA1G as a novel candidate gene. (PubMed id 19455149)1, 4 Strom S.P....Nelson S.F. (2010)
    9. Profiling the array of Ca(v)3.1 variants from the human T-type calcium channel gene CACNA1G: alternative structures, developmental expression, and biophysical variations. (PubMed id 16671074)1, 2 Emerick M.C....Agnew W.S. (2006)
    10. International Union of Pharmacology. XLVIII. Nomenclature and structure-function relationships of voltage-gated calcium channels. (PubMed id 16382099)1, 3 Catterall W.A....Striessnig J. (2005)

    (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: 8913 HGNC: 1394 AceView: CACNA1G Ensembl:ENSG00000006283 euGenes: HUgn8913
    ECgene: CACNA1G Kegg: 8913 H-InvDB: CACNA1G

    (According to HUGE)
    About This Section
    HUGE: KIAA1123

    (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 CACNA1G Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CACNA1G Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CACNA1G gene:
    Search GeneIP for patents involving CACNA1G

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (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, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, 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
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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
    transforming growth factor, beta 1
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