This gene encodes the pore-forming alpha subunit of a voltage gated calcium channel. The encoded protein is a member of a subfamily of calcium channels referred to as is a low voltage-activated, T-type, calcium channel. The channel encoded by this protein is characterized by a slower activation and inactivation compared to other T-type calcium channels. This protein may be invo... See more...

Aliases for CACNA1I Gene

Aliases for CACNA1I Gene

  • Calcium Voltage-Gated Channel Subunit Alpha1 I 2 3 5
  • Calcium Channel, Voltage-Dependent, T Type, Alpha 1I Subunit 2 3
  • Voltage-Dependent T-Type Calcium Channel Subunit Alpha-1I 3 4
  • Voltage-Gated Calcium Channel Subunit Alpha Cav3.3 3 4
  • Ca(V)3.3 3 4
  • Calcium Channel, Voltage-Dependent, Alpha 1I Subunit 3
  • KIAA1120 4
  • Cav3.3 3

External Ids for CACNA1I Gene

Previous GeneCards Identifiers for CACNA1I Gene

  • GC22P036581
  • GC22P038209
  • GC22P038291
  • GC22P039966
  • GC22P022931

Summaries for CACNA1I Gene

Entrez Gene Summary for CACNA1I Gene

  • This gene encodes the pore-forming alpha subunit of a voltage gated calcium channel. The encoded protein is a member of a subfamily of calcium channels referred to as is a low voltage-activated, T-type, calcium channel. The channel encoded by this protein is characterized by a slower activation and inactivation compared to other T-type calcium channels. This protein may be involved in calcium signaling in neurons. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011]

GeneCards Summary for CACNA1I Gene

CACNA1I (Calcium Voltage-Gated Channel Subunit Alpha1 I) is a Protein Coding gene. Diseases associated with CACNA1I include Childhood Absence Epilepsy and Childhood Electroclinical Syndrome. Among its related pathways are CCR5 Pathway in Macrophages and ERK Signaling. Gene Ontology (GO) annotations related to this gene include ion channel activity and low voltage-gated calcium channel activity. An important paralog of this gene is CACNA1H.

UniProtKB/Swiss-Prot Summary for CACNA1I 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. This channel gives rise to T-type calcium currents. T-type calcium channels belong to the 'low-voltage activated (LVA)' group and are strongly blocked by nickel and mibefradil. A particularity of this type of channels 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. Gates in voltage ranges similar to, but higher than alpha 1G or alpha 1H (By similarity).

Tocris Summary for CACNA1I 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 CACNA1I Gene

Additional gene information for CACNA1I Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CACNA1I Gene

Genomics for CACNA1I Gene

GeneHancer (GH) Regulatory Elements for CACNA1I Gene

Promoters and enhancers for CACNA1I 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
GH22J039559 Enhancer 0.8 Ensembl ENCODE 500.7 +1.7 1682 1 CTCF TEAD4 REST SMC3 PCBP1 BCL11A RXRA ZNF263 ESR1 YY1 CACNA1I HSALNG0135516 MGAT3 piR-31534-459
GH22J039557 Promoter 0.7 EPDnew 500.7 -0.1 -133 0.1 SMC3 POLR2G EZH2 ZBTB7A VEZF1 CTCF RBFOX2 RAD21 CACNA1I HSALNG0135516 MGAT3 piR-35811
GH22J039530 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.9 -24.9 -24873 4.6 FOXK2 ZBTB40 EP300 CTCF SIN3A TCF12 NRF1 MYC POLR2G USF1 RPS19BP1 lnc-RPL3-2 piR-35811 ATF4 RPL3 TNRC6B CACNA1I FAM83F MGAT3 ENSG00000228274
GH22J039994 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.1 +440.6 440637 8.4 CTCF NRF1 MYC USF1 ZFX ZIC2 ZBTB11 TRIM28 KLF4 RFX1 FAM83F CACNA1I HSALNG0135529 piR-48940
GH22J040007 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 11 +451.4 451426 3.5 EP300 ZNF341 ZNF316 NFIC MAFF ZNF263 CEBPG MAFK CEBPB PBX2 FAM83F CACNA1I ENTHD1 GRAP2 TNRC6B MIEF1 HSALNG0135529 piR-48940
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CACNA1I on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CACNA1I

Top Transcription factor binding sites by QIAGEN in the CACNA1I gene promoter:
  • AP-1
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • Egr-2
  • MyoD
  • POU2F1
  • POU2F1a
  • TBP

Genomic Locations for CACNA1I Gene

Genomic Locations for CACNA1I Gene
chr22:39,557,969-39,689,739
(GRCh38/hg38)
Size:
131,771 bases
Orientation:
Plus strand
chr22:39,966,758-40,085,742
(GRCh37/hg19)
Size:
118,985 bases
Orientation:
Plus strand

Genomic View for CACNA1I Gene

Genes around CACNA1I on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CACNA1I Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CACNA1I Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CACNA1I Gene

Proteins for CACNA1I Gene

  • Protein details for CACNA1I Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P0X4-CAC1I_HUMAN
    Recommended name:
    Voltage-dependent T-type calcium channel subunit alpha-1I
    Protein Accession:
    Q9P0X4
    Secondary Accessions:
    • B0QY12
    • B0QY13
    • B0QY14
    • O95504
    • Q5JZ88
    • Q7Z6S9
    • Q8NFX6
    • Q9NZC8
    • Q9UH15
    • Q9UH30
    • Q9ULU9
    • Q9UNE6

    Protein attributes for CACNA1I Gene

    Size:
    2223 amino acids
    Molecular mass:
    245103 Da
    Quaternary structure:
    • Interacts with CATSPER1 and CATSPER2, leading to suppress T-type calcium channel activity.

    Alternative splice isoforms for CACNA1I Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CACNA1I Gene

Post-translational modifications for CACNA1I Gene

  • In response to raising of intracellular calcium, the T-type channels are activated by CaM-kinase II.
  • Glycosylation at Asn173, Asn244, Asn311, Asn1342, and Asn1345
  • Modification sites at PhosphoSitePlus

Other Protein References for CACNA1I Gene

No data available for DME Specific Peptides for CACNA1I Gene

Domains & Families for CACNA1I Gene

Gene Families for CACNA1I Gene

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

Protein Domains for CACNA1I Gene

Blocks:
  • T-type voltage-dependent calcium channel alpha-1 subunit signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CACNA1I Gene

GenScript: Design optimal peptide antigens:
  • Voltage-gated calcium channel subunit alpha Cav3.3 (CAC1I_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9P0X4

UniProtKB/Swiss-Prot:

CAC1I_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. CACNA1I 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.
Family:
  • Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1I subfamily.
genes like me logo Genes that share domains with CACNA1I: view

Function for CACNA1I Gene

Molecular function for CACNA1I 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. This channel gives rise to T-type calcium currents. T-type calcium channels belong to the 'low-voltage activated (LVA)' group and are strongly blocked by nickel and mibefradil. A particularity of this type of channels 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. Gates in voltage ranges similar to, but higher than alpha 1G or alpha 1H (By similarity).
GENATLAS Biochemistry:
calcium low activated (LVA) voltage-gated channel,T type alpha 1I subunit,predominantly expressed in brain,involved in pacing neuronal firing and producing network oscillations such as those that occurs during sleeep and epilepsy (potential drug target),existing as two alternatively spliced forms

Phenotypes From GWAS Catalog for CACNA1I Gene

Gene Ontology (GO) - Molecular Function for CACNA1I 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 TAS 10454147
GO:0005248 voltage-gated sodium channel activity IBA 21873635
GO:0005262 calcium channel activity IEA --
genes like me logo Genes that share ontologies with CACNA1I: view
genes like me logo Genes that share phenotypes with CACNA1I: view

Animal Models for CACNA1I Gene

MGI Knock Outs for CACNA1I:

Animal Model Products

  • Taconic Biosciences Mouse Models for CACNA1I

miRNA for CACNA1I Gene

miRTarBase miRNAs that target CACNA1I

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CACNA1I Gene

Localization for CACNA1I Gene

Subcellular locations from UniProtKB/Swiss-Prot for CACNA1I Gene

Membrane; Multi-pass membrane protein.

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 CACNA1I gene
Compartment Confidence
plasma membrane 5
extracellular 2
nucleus 2
endoplasmic reticulum 2
cytoskeleton 1
mitochondrion 1
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for CACNA1I Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001518 voltage-gated sodium channel complex IBA 21873635
GO:0005886 plasma membrane IBA 21873635
GO:0005891 voltage-gated calcium channel complex IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CACNA1I: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CACNA1I Gene

Pathways & Interactions for CACNA1I Gene

PathCards logo

SuperPathways for CACNA1I Gene

SuperPathway Contained pathways
1 DREAM Repression and Dynorphin Expression
.44
.44
.37
.36
.31
2 TCR Signaling (Qiagen)
.68
.68
.54
.49
.39
3 Sweet Taste Signaling
.72
.72
.46
.37
4 Aldosterone synthesis and secretion
5 Activation of cAMP-Dependent PKA
.77
.77
.56
genes like me logo Genes that share pathways with CACNA1I: view

Pathways by source for CACNA1I Gene

1 GeneGo (Thomson Reuters) pathway for CACNA1I Gene
  • Transcription CREB pathway
36 Qiagen pathways for CACNA1I Gene
  • Activation of cAMP-Dependent PKA
  • all-trans-Retinoic Acid Signaling in Brain
  • Androgen Signaling
  • BMP Pathway
  • Calpain Protease Regulates Cellular Mechanics

Gene Ontology (GO) - Biological Process for CACNA1I Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006816 calcium ion transport IEA --
GO:0007165 signal transduction TAS 10454147
GO:0019228 neuronal action potential IEA,IBA 21873635
GO:0030317 flagellated sperm motility IEA --
genes like me logo Genes that share ontologies with CACNA1I: view

No data available for SIGNOR curated interactions for CACNA1I Gene

Drugs & Compounds for CACNA1I Gene

(36) Drugs for CACNA1I Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zonisamide Approved, Investigational Pharma Target, inhibitor, blocker Antiepileptic with anticonvulsant and mechanistic effect 73
Flunarizine Approved Pharma Target, inhibitor, blocker 8
Paramethadione Approved Pharma Target, suppressor, blocker 0
Cinnarizine Approved, Investigational Pharma Target, inhibitor 2
Verapamil Approved Pharma Channel blocker, Pore Blocker, Inhibition, Inhibitor, blocker 139

(5) Additional Compounds for CACNA1I Gene - From: HMDB, IUPHAR, 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 CACNA1I 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

(3) ApexBio Compounds for CACNA1I Gene

Compound Action Cas Number
Mibefradil dihydrochloride Ca2+ channel blocker ,antihypertensive 116666-63-8
NNC 55-0396 T-type calcium channel blocker 357400-13-6
Zonisamide Antiepileptic with anticonvulsant and mechanistic effect 68291-97-4
genes like me logo Genes that share compounds with CACNA1I: view

Drug Products

Transcripts for CACNA1I Gene

mRNA/cDNA for CACNA1I Gene

2 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CACNA1I Gene

No ASD Table

Relevant External Links for CACNA1I Gene

GeneLoc Exon Structure for
CACNA1I

Expression for CACNA1I Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CACNA1I Gene

mRNA differential expression in normal tissues according to GTEx for CACNA1I Gene

This gene is overexpressed in Brain - Cortex (x5.9), Brain - Cerebellum (x4.7), and Brain - Frontal Cortex (BA9) (x4.5).

Protein differential expression in normal tissues from HIPED for CACNA1I Gene

This gene is overexpressed in Serum (31.2), Heart (17.3), Pancreatic juice (8.7), and Bone marrow mesenchymal stem cell (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CACNA1I Gene



Protein tissue co-expression partners for CACNA1I Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CACNA1I

SOURCE GeneReport for Unigene cluster for CACNA1I Gene:

Hs.125116

mRNA Expression by UniProt/SwissProt for CACNA1I Gene:

Q9P0X4-CAC1I_HUMAN
Tissue specificity: Brain specific.

Evidence on tissue expression from TISSUES for CACNA1I Gene

  • Nervous system(4.5)
genes like me logo Genes that share expression patterns with CACNA1I: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CACNA1I Gene

Orthologs for CACNA1I Gene

This gene was present in the common ancestor of animals.

Orthologs for CACNA1I Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CACNA1I 31 30
  • 98.72 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CACNA1I 31 30
  • 91.08 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CACNA1I 31 30
  • 90.61 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Cacna1i 17 31 30
  • 87.97 (n)
rat
(Rattus norvegicus)
Mammalia Cacna1i 30
  • 87.56 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CACNA1I 31
  • 74 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CACNA1I 31
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves CACNA1I 31 30
  • 76.82 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CACNA1I 31
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cacna1i 30
  • 70.63 (n)
zebrafish
(Danio rerio)
Actinopterygii cacna1i 31 30
  • 67.93 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta cac 31
  • 22 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea cca-1 31 32
  • 44 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 21 (a)
ManyToMany
Species where no ortholog for CACNA1I 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 CACNA1I Gene

ENSEMBL:
Gene Tree for CACNA1I (if available)
TreeFam:
Gene Tree for CACNA1I (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CACNA1I: view image

Paralogs for CACNA1I Gene

(6) SIMAP similar genes for CACNA1I Gene using alignment to 3 proteins:

  • CAC1I_HUMAN
  • A8MPS3_HUMAN
  • F8WDE5_HUMAN
genes like me logo Genes that share paralogs with CACNA1I: view

Variants for CACNA1I Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CACNA1I Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
709524 Benign: not provided 39,664,882(+) C/T SYNONYMOUS_VARIANT
709525 Benign: not provided 39,679,102(+) C/T INTRON_VARIANT
710286 Benign: not provided 39,670,112(+) C/T SYNONYMOUS_VARIANT
711086 Likely Benign: not provided 39,686,078(+) C/G SYNONYMOUS_VARIANT
712875 Likely Benign: not provided 39,649,713(+) G/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for CACNA1I Gene

Structural Variations from Database of Genomic Variants (DGV) for CACNA1I Gene

Variant ID Type Subtype PubMed ID
dgv1315e212 CNV loss 25503493
dgv1316e212 CNV loss 25503493
dgv4572n100 CNV gain 25217958
dgv4573n100 CNV gain 25217958
dgv4574n100 CNV gain 25217958
esv1010347 CNV deletion 20482838
esv2086990 CNV deletion 18987734
esv2724256 CNV deletion 23290073
esv2724257 CNV deletion 23290073
esv2724258 CNV deletion 23290073
esv3348807 CNV duplication 20981092
esv3568397 CNV loss 25503493
esv3568400 CNV loss 25503493
nsv1062800 CNV gain 25217958
nsv1065727 CNV gain 25217958
nsv1112816 CNV deletion 24896259
nsv834200 CNV loss 17160897
nsv955159 CNV deletion 24416366

Variation tolerance for CACNA1I Gene

Residual Variation Intolerance Score: 3.96% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 17.06; 98.03% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CACNA1I Gene

Human Gene Mutation Database (HGMD)
CACNA1I
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CACNA1I

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CACNA1I Gene

Disorders for CACNA1I Gene

MalaCards: The human disease database

(7) MalaCards diseases for CACNA1I Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
childhood absence epilepsy
  • absence seizure
childhood electroclinical syndrome
epilepsy
  • epilepsy syndrome
juvenile absence epilepsy
  • childhood absence epilepsy
electroclinical syndrome
  • electro-clinical syndrome
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CACNA1I

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 CACNA1I: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CACNA1I Gene

Publications for CACNA1I Gene

  1. Association of Catsper1 or -2 with Ca(v)3.3 leads to suppression of T-type calcium channel activity. (PMID: 16740636) Zhang D … Gopalakrishnan M (The Journal of biological chemistry 2006) 3 4 23 54
  2. Structure and alternative splicing of the gene encoding alpha1I, a human brain T calcium channel alpha1 subunit. (PMID: 10454147) Mittman S … Agnew WS (Neuroscience letters 1999) 2 3 4 54
  3. Selective inhibition of Cav3.3 T-type calcium channels by Galphaq/11-coupled muscarinic acetylcholine receptors. (PMID: 17535809) Hildebrand ME … Snutch TP (The Journal of biological chemistry 2007) 3 23 54
  4. CACNA1I is not associated with childhood absence epilepsy in the Chinese Han population. (PMID: 16939858) Wang J … Wu X (Pediatric neurology 2006) 3 41 54
  5. International Union of Pharmacology. XLVIII. Nomenclature and structure-function relationships of voltage-gated calcium channels. (PMID: 16382099) Catterall WA … Striessnig J (Pharmacological reviews 2005) 2 3 54

Products for CACNA1I Gene

Sources for CACNA1I Gene