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Aliases for CACNA1G Gene

Aliases for CACNA1G Gene

  • Calcium Voltage-Gated Channel Subunit Alpha1 G 2 3 5
  • Calcium Channel, Voltage-Dependent, T Type, Alpha 1G Subunit 2 3
  • 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 T-Type Calcium Channel Subunit Alpha-1G 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 Spinocerebellar Ataxia 42 and Central Pain Syndrome. Among its related pathways are Fc-GammaR Pathway and Presenilin-Mediated Signaling. Gene Ontology (GO) annotations related to this gene include ion channel activity and scaffold protein binding. An important paralog of this gene is CACNA1H.

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

Additional gene information for CACNA1G Gene

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

Genomics for CACNA1G Gene

GeneHancer (GH) Regulatory Elements for CACNA1G Gene

Promoters and enhancers for CACNA1G Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J050558 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 650.7 -1.3 -1307 2.9 PKNOX1 ZFP64 ARID4B SIN3A ZNF48 GLIS2 FOS SP3 RXRA SP5 CACNA1G SPATA20 MBTD1 KAT7 CACNA1G-AS1 PIR57018
GH17J050561 Promoter 0.9 EPDnew 650.7 +0.5 452 0.1 SUZ12 ZBTB8A DPF2 ZIC2 ZBTB7A ZNF335 GLIS2 ZXDB ZBTB20 EZH2 CACNA1G CACNA1G-AS1
GH17J050633 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11 +77.9 77884 10.1 PKNOX1 FOXA2 MLX ARID4B NEUROD1 SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B ABCC3 MBTD1 ENSG00000262837 CHAD ENSG00000249451 MYCBPAP CACNA1G CACNA1G-AS1 SPATA20 LOC105371824
GH17J050507 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 11 -51.0 -51040 5 HDGF PKNOX1 ATF1 SIN3A BATF IRF4 ZNF121 ZNF143 ATF7 RCOR1 MYCBPAP ENSG00000249451 EPN3 RSAD1 ACSF2 LOC105371824 SPATA20 CACNA1G CACNA1G-AS1 CHAD
GH17J050423 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.1 -134.1 -134075 6.9 HDGF PKNOX1 FOXA2 SMAD1 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ACSF2 MBTD1 ENSG00000262837 UTP18 RSAD1 XYLT2 CHAD FAM117A ENSG00000253102 LRRC59
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CACNA1G on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CACNA1G gene promoter:
  • Sp1
  • E2F-5
  • E2F-4
  • E2F-3a
  • E2F-2
  • E2F-1
  • E2F
  • p300
  • HOXA5
  • COMP1

Genomic Locations for CACNA1G Gene

Genomic Locations for CACNA1G Gene
chr17:50,561,068-50,629,625
(GRCh38/hg38)
Size:
68,558 bases
Orientation:
Plus strand
chr17:48,638,429-48,704,835
(GRCh37/hg19)
Size:
66,407 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

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 posLast=16981698, posLast=14511451, Asn1448, posLast=322322, posLast=310310, posLast=306306, posLast=246246, and posLast=173173
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CACNA1G Gene

Domains & Families for CACNA1G Gene

Gene Families for CACNA1G Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted membrane proteins
  • Voltage-gated ion channels

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

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.
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

Phenotypes From GWAS Catalog for CACNA1G Gene

Gene Ontology (GO) - Molecular Function for CACNA1G Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity IEA --
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005245 voltage-gated calcium channel activity IBA,IEA --
GO:0005248 voltage-gated sodium channel activity IBA --
GO:0005261 cation channel activity IBA --
genes like me logo Genes that share ontologies with CACNA1G: view
genes like me logo Genes that share phenotypes with CACNA1G: view

Human Phenotype Ontology for CACNA1G Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CACNA1G Gene

MGI Knock Outs for CACNA1G:

Animal Model Products

  • Taconic Biosciences Mouse Models for CACNA1G

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CACNA1G

Clone Products

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

Localization for CACNA1G Gene

Subcellular locations from UniProtKB/Swiss-Prot for CACNA1G Gene

Cell membrane; Multi-pass membrane protein. Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CACNA1G gene
Compartment Confidence
plasma membrane 5
nucleus 3
cytosol 2
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for CACNA1G Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA,IEA 26715324
GO:0005886 plasma membrane IDA,IEA 26715324
GO:0005891 voltage-gated calcium channel complex TAS,ISS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CACNA1G: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) 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:0006811 ion transport IEA --
GO:0006816 calcium ion transport IBA,IEA --
GO:0007268 chemical synaptic transmission IEA --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zonisamide Approved, Investigational Pharma blocker, Target, inhibitor Antiepileptic with anticonvulsant and mechanistic effect 69
Ethosuximide Approved Pharma blocker, Target, inhibitor 9
Flunarizine Approved Pharma blocker, Target, inhibitor 5
Trimethadione Approved Pharma blocker, Target, inhibitor 0
Verapamil Approved Pharma Channel blocker, Pore Blocker, Inhibition, Inhibitor, blocker, Target, inhibitor 135

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

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
Verapamil hydrochloride
152-11-4

(5) Tocris Compounds for CACNA1G Gene

Compound Action Cas Number
(+-)-Bay K 8644 Ca2+ channel activator (L-type) 71145-03-4
Nimodipine Ca2+ channel blocker (L-type) 66085-59-4
Nitrendipine Ca2+ channel blocker (L-type) 39562-70-4
Ruthenium Red Non-selective Ca2+ channel blocker (N- and P-type) 11103-72-3
Verapamil hydrochloride Ca2+ channel blocker (L-type) 152-11-4
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:

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CACNA1G

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 and MOPED for CACNA1G Gene



Protein tissue co-expression partners for CACNA1G Gene

NURSA nuclear receptor signaling pathways regulating expression of CACNA1G Gene:

CACNA1G

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.

Evidence on tissue expression from TISSUES for CACNA1G Gene

  • Nervous system(4.5)
  • Intestine(2)
genes like me logo Genes that share expression patterns with CACNA1G: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CACNA1G Gene

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 34 33
  • 98.73 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CACNA1G 34 33
  • 92.31 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CACNA1G 34 33
  • 91.45 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Cacna1g 16 34 33
  • 89.48 (n)
rat
(Rattus norvegicus)
Mammalia Cacna1g 33
  • 89.13 (n)
oppossum
(Monodelphis domestica)
Mammalia CACNA1G 34
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CACNA1G 34
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves CACNA1G 34 33
  • 75.3 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CACNA1G 34
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cacna1g 33
  • 68.96 (n)
zebrafish
(Danio rerio)
Actinopterygii cacna1g 34 33
  • 66.59 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Ca-alpha1T 35
  • 54 (a)
worm
(Caenorhabditis elegans)
Secernentea cca-1 34 35
  • 46 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 20 (a)
ManyToMany
Species where no ortholog for CACNA1G was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CACNA1G: view image

Paralogs for CACNA1G Gene

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

  • CAC1G_HUMAN
  • H0YAN0_HUMAN
  • I3L2W8_HUMAN
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 Variation AA Info Type
rs543673731 uncertain-significance, Inborn genetic diseases 50,578,391(+) A/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs730882202 likely-pathogenic, Abnormal facial shape, Abnormality of the skeletal system, Hirsutism, Intellectual disability, severe, not provided 50,571,953(+) TCTTCTTC/TCTTC coding_sequence_variant, inframe_deletion, non_coding_transcript_variant
rs755221106 pathogenic, Spinocerebellar ataxia 42, Spinocerebellar ataxia 42 (SCA42) [MIM:616795] 50,617,560(+) G/A/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs886041505 pathogenic, not provided 50,592,063(+) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1064795668 likely-pathogenic, not provided 50,576,292(+) C/G coding_sequence_variant, missense_variant, non_coding_transcript_variant

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

Variant ID Type Subtype PubMed ID
dgv42n68 CNV loss 17160897
esv1506174 CNV insertion 17803354
esv989095 CNV insertion 20482838
nsv111816 CNV insertion 16902084
nsv111873 CNV insertion 16902084
nsv472283 CNV novel sequence insertion 20440878
nsv833477 CNV loss 17160897

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)

Additional Variant Information for CACNA1G Gene

Human Gene Mutation Database (HGMD)
CACNA1G
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CACNA1G

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

Disorders for CACNA1G Gene

MalaCards: The human disease database

(5) MalaCards diseases for CACNA1G Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
spinocerebellar ataxia 42
  • sca42
central pain syndrome
  • central post-stroke pain
childhood absence epilepsy
  • absence seizure
osteogenesis imperfecta, type i
  • oi1
colorectal cancer
  • crc
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CAC1G_HUMAN
  • Spinocerebellar ataxia 42 (SCA42) [MIM:616795]: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA42 is a slowly progressive, autosomal dominant form with variable severity. {ECO:0000269 PubMed:26456284, ECO:0000269 PubMed:26715324}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CACNA1G

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

No data available for Genatlas for CACNA1G Gene

Publications for CACNA1G Gene

  1. Mutational analysis of CACNA1G in idiopathic generalized epilepsy. Mutation in brief #962. Online. (PMID: 17397049) Singh B … Yamakawa K (Human mutation 2007) 3 22 44 58
  2. Molecular cloning and functional expression of Ca(v)3.1c, a T-type calcium channel from human brain. (PMID: 10648811) Cribbs LL … Perez-Reyes E (FEBS letters 2000) 3 4 22 58
  3. Molecular and functional properties of the human alpha(1G) subunit that forms T-type calcium channels. (PMID: 10692398) Monteil A … Nargeot J (The Journal of biological chemistry 2000) 3 4 22 58
  4. Inactivation of CACNA1G, a T-type calcium channel gene, by aberrant methylation of its 5' CpG island in human tumors. (PMID: 10493502) Toyota M … Issa JP (Cancer research 1999) 3 4 22 58
  5. Structure and alternative splicing of the gene encoding alpha1G, a human brain T calcium channel alpha1 subunit. (PMID: 10548410) Mittman S … Agnew WS (Neuroscience letters 1999) 3 4 22 58

Products for CACNA1G Gene

Sources for CACNA1G Gene

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