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Aliases for CACNA1G Gene

Aliases for CACNA1G Gene

  • Calcium Voltage-Gated Channel Subunit Alpha1 G 2 3
  • Calcium Channel, Voltage-Dependent, T Type, Alpha 1G Subunit 2 3 5
  • Voltage-Gated Calcium Channel Subunit Alpha Cav3.1 3 4
  • Cav3.1c 3 4
  • NBR13 3 4
  • Voltage-Dependent T-Type Calcium Channel Alpha 1G Subunit 3
  • Voltage-Dependent Calcium Channel Alpha 1G Subunit 3
  • Ca(V)T.1 3
  • KIAA1123 4
  • Cav3.1 3
  • SCA42 3

External Ids for CACNA1G Gene

Previous GeneCards Identifiers for CACNA1G Gene

  • GC17P048351
  • GC17P051119
  • GC17P048980
  • GC17P049113
  • GC17P045993
  • GC17P048639
  • GC17P044006

Summaries for CACNA1G Gene

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 Voltage-Gated Channel Subunit Alpha1 G) is a Protein Coding gene. Diseases associated with CACNA1G include childhood absence epilepsy and colorectal cancer. Among its related pathways are Type II diabetes mellitus and Antiarrhythmic Pathway, Pharmacodynamics. GO annotations related to this gene include ion channel activity and scaffold protein binding. An important paralog of this gene is CACNA1I.

UniProtKB/Swiss-Prot for CACNA1G Gene

  • 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.

Tocris 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 depolarization. They regulate intracellular processes such as contraction, secretion, neurotransmission and gene expression.

Gene Wiki entry for CACNA1G Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CACNA1G Gene

Genomics for CACNA1G Gene

Regulatory Elements for CACNA1G Gene

Promoters for CACNA1G Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CACNA1G on UCSC Golden Path with GeneCards custom track

Genomic Location for CACNA1G Gene

Chromosome:
17
Start:
50,561,068 bp from pter
End:
50,629,625 bp from pter
Size:
68,558 bases
Orientation:
Plus strand

Genomic View for CACNA1G Gene

Genes around CACNA1G on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CACNA1G Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CACNA1G Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CACNA1G Gene

Proteins for CACNA1G Gene

neXtProt entry for CACNA1G Gene

Proteomics data for CACNA1G Gene at MOPED

Post-translational modifications for CACNA1G Gene

  • In response to raising of intracellular calcium, the T-type channels are activated by CaM-kinase II.
  • Glycosylation at Asn 173, Asn 246, Asn 306, Asn 310, Asn 322, Asn 1448, Asn 1451, and Asn 1698
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for CACNA1G Gene

Domains & Families for CACNA1G Gene

Gene Families for CACNA1G Gene

Graphical View of Domain Structure for InterPro Entry

O43497

UniProtKB/Swiss-Prot:

CAC1G_HUMAN :
  • 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.
  • Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1G subfamily.
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.
  • 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.
Family:
  • Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1G subfamily.
genes like me logo Genes that share domains with CACNA1G: view

Function for CACNA1G Gene

Molecular function for CACNA1G Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for CACNA1G Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity IEA --
GO:0008332 low voltage-gated calcium channel activity IDA 21084288
GO:0086056 voltage-gated calcium channel activity involved in AV node cell action potential ISS --
genes like me logo Genes that share ontologies with CACNA1G: view
genes like me logo Genes that share phenotypes with CACNA1G: view

Animal Models for CACNA1G Gene

MGI Knock Outs for CACNA1G:

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CACNA1G Gene

Localization for CACNA1G Gene

Subcellular locations from UniProtKB/Swiss-Prot for CACNA1G Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CACNA1G Gene COMPARTMENTS Subcellular localization image for CACNA1G gene
Compartment Confidence
plasma membrane 5
nucleus 3
cytosol 2
endoplasmic reticulum 1
extracellular 1

No data available for Gene Ontology (GO) - Cellular Components for CACNA1G Gene

Pathways & Interactions for CACNA1G Gene

genes like me logo Genes that share pathways with CACNA1G: view

Gene Ontology (GO) - Biological Process for CACNA1G Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002027 regulation of heart rate IEA --
GO:0006810 transport TAS 9495342
GO:0006811 ion transport IEA --
GO:0007411 axon guidance TAS --
GO:0010045 response to nickel cation IEA --
genes like me logo Genes that share ontologies with CACNA1G: view

No data available for SIGNOR curated interactions for CACNA1G Gene

Drugs & Compounds for CACNA1G Gene

(19) Drugs for CACNA1G Gene - From: IUPHAR, DGIdb, DrugBank, HMDB, Novoseek, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ethosuximide Approved Pharma blocker, Target, inhibitor 8
Flunarizine Approved Pharma blocker, Target, inhibitor 5
Trimethadione Approved Pharma blocker, Target, inhibitor 0
Verapamil Approved Pharma Channel blocker, blocker, Target, inhibitor 117
Zonisamide Approved, Investigational Pharma blocker, Target, inhibitor Antiepileptic with anticonvulsant and mechanistic effect 65

(9) Additional Compounds for CACNA1G Gene - From: IUPHAR, Tocris, Novoseek, and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
kurtoxin
Channel blocker
SB209712
Channel blocker
O-Desmethylverapamil (D-702)
(+-)-Bay K 8644
71145-03-4
(S)-(-)-Bay K 8644
98625-26-4
genes like me logo Genes that share compounds with CACNA1G: view

Transcripts for CACNA1G Gene

Unigene Clusters for CACNA1G Gene

Calcium channel, voltage-dependent, T type, alpha 1G subunit:
Representative Sequences:

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CACNA1G Gene

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: -
SP6:

ExUns: 22 ^ 23 ^ 24a · 24b ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31a · 31b
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:

Relevant External Links for CACNA1G Gene

GeneLoc Exon Structure for
CACNA1G
ECgene alternative splicing isoforms for
CACNA1G

Expression for CACNA1G Gene

mRNA expression in normal human tissues for CACNA1G Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CACNA1G Gene

This gene is overexpressed in Brain - Cerebellum (x8.2) and Brain - Cortex (x5.5).

Protein differential expression in normal tissues from HIPED for CACNA1G Gene

This gene is overexpressed in Bone (21.7), Stomach (19.5), Neutrophil (15.8), and Peripheral blood mononuclear cells (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CACNA1G Gene



SOURCE GeneReport for Unigene cluster for CACNA1G Gene Hs.591169

mRNA Expression by UniProt/SwissProt for CACNA1G Gene

O43497-CAC1G_HUMAN
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.
genes like me logo Genes that share expression patterns with CACNA1G: view

Protein tissue co-expression partners for CACNA1G Gene

Primer Products

In Situ Assay Products

Orthologs for CACNA1G Gene

This gene was present in the common ancestor of animals.

Orthologs for CACNA1G Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CACNA1G 36
  • 100 (a)
OneToOne
CACNA1G 35
  • 98.73 (n)
  • 98.58 (a)
cow
(Bos Taurus)
Mammalia CACNA1G 36
  • 95 (a)
OneToOne
CACNA1G 35
  • 91.45 (n)
  • 94.47 (a)
dog
(Canis familiaris)
Mammalia CACNA1G 35
  • 92.31 (n)
  • 95.18 (a)
CACNA1G 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cacna1g 16
Cacna1g 35
  • 89.48 (n)
  • 94.73 (a)
Cacna1g 36
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CACNA1G 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CACNA1G 36
  • 69 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cacna1g 35
  • 89.13 (n)
  • 94.01 (a)
chicken
(Gallus gallus)
Aves CACNA1G 35
  • 75.3 (n)
  • 76.58 (a)
CACNA1G 36
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CACNA1G 36
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cacna1g 35
  • 68.96 (n)
  • 73.54 (a)
zebrafish
(Danio rerio)
Actinopterygii cacna1g 36
  • 63 (a)
OneToOne
cacna1g 35
  • 66.59 (n)
  • 67.79 (a)
fruit fly
(Drosophila melanogaster)
Insecta Ca-alpha1T 37
  • 54 (a)
worm
(Caenorhabditis elegans)
Secernentea cca-1 36
  • 46 (a)
OneToMany
cca-1 37
  • 58 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 20 (a)
ManyToMany
Species with no ortholog for CACNA1G:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CACNA1G Gene

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

Paralogs for CACNA1G Gene

(8) SIMAP similar genes for CACNA1G Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with CACNA1G: view

Variants for CACNA1G Gene

Sequence variations from dbSNP and Humsavar for CACNA1G Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs189902 -- 50,594,237(-) TGTGA(A/T)TGATA intron-variant
rs198538 -- 50,565,332(+) ACCCA(C/T)GCACT intron-variant
rs198543 -- 50,567,841(+) GTCAC(C/T)CCATA intron-variant
rs198544 -- 50,568,144(+) AGCAG(C/G)GGGGA intron-variant
rs198545 -- 50,568,250(+) TCATA(G/T)ATCAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CACNA1G Gene

Variant ID Type Subtype PubMed ID
nsv908600 CNV Gain 21882294
dgv3229n71 CNV Loss 21882294
nsv833477 CNV Loss 17160897
dgv3230n71 CNV Loss 21882294
nsv908605 CNV Loss 21882294
nsv908608 CNV Loss 21882294
dgv42n68 CNV Loss 17160897
esv989095 CNV Insertion 20482838
nsv111873 CNV Insertion 16902084
esv1506174 CNV Insertion 17803354
nsv111816 CNV Insertion 16902084

Variation tolerance for CACNA1G Gene

Residual Variation Intolerance Score: 1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.64; 56.72% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CACNA1G Gene

HapMap Linkage Disequilibrium report
CACNA1G
Human Gene Mutation Database (HGMD)
CACNA1G

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CACNA1G Gene

Disorders for CACNA1G Gene

MalaCards: The human disease database

(2) MalaCards diseases for CACNA1G Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
childhood absence epilepsy
  • absence seizure
colorectal cancer
  • colorectal cancer, somatic
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CACNA1G

Genetic Association Database (GAD)
CACNA1G
Human Genome Epidemiology (HuGE) Navigator
CACNA1G
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CACNA1G
genes like me logo Genes that share disorders with CACNA1G: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CACNA1G Gene

Publications for CACNA1G Gene

  1. Molecular characterization of a neuronal low-voltage-activated T-type calcium channel. (PMID: 9495342) Perez-Reyes E. … Lee J.-H. (Nature 1998) 2 3 4 67
  2. Molecular and functional properties of the human alpha1G subunit that forms T-type calcium channels. (PMID: 10692398) Monteil A. … Nargeot J. (J. Biol. Chem. 2000) 3 23 25
  3. The antiepileptic drug zonisamide inhibits MAO-B and attenuates MPTP toxicity in mice: clinical relevance. (PMID: 19948168) Sonsalla P.K. … Buckley B. (Exp. Neurol. 2010) 25 26
  4. Zonisamide in the treatment of epilepsy. (PMID: 20001433) Schulze-Bonhage A. (Expert Opin Pharmacother 2010) 25 26
  5. Zonisamide: a new drug for Parkinson's disease. (PMID: 20502722) Murata M. (Drugs Today 2010) 25 26

Products for CACNA1G Gene

Sources for CACNA1G Gene

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