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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CACNA1I
calcium voltage-gated channel subunit alpha1 I
Chromosome 22 Β· 22q13.1
NCBI Gene: 8911Ensembl: ENSG00000100346.18HGNC: HGNC:1396UniProt: Q9P0X4
36PubMed Papers
21Diseases
19Drugs
6Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTransporter
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
voltage-gated calcium channel activityprotein bindinghigh voltage-gated calcium channel activityvoltage-gated calcium channel complexneurodevelopmental disorder with speech impairment and with or without seizuresepilepsySeizureneuropathic pain
✦AI Summary

CACNA1I encodes CaV3.3, a low-voltage-activated T-type calcium channel that mediates calcium ion entry into excitable cells and regulates neuronal excitability, sensory processing, sleep, and neurotransmitter release 1. The channel exhibits unique electrophysiological properties essential for thalamic reticular nucleus pacemaking and thalamocortical network rhythmogenesis 2. Mutations in CACNA1I cause neurodevelopmental disorders through gain- and loss-of-function mechanisms. De novo missense variants, particularly those affecting the channel's activation gate at the cytoplasmic IIS6, IIIS5, and IIIS6 segments, predominantly produce gain-of-function effects characterized by hyperpolarizing shifts in voltage-dependence of activation/inactivation, slowed inactivation kinetics, and increased calcium influx 13. This calcium toxicity and neuronal hyperexcitability explain the phenotypic spectrum ranging from developmental delay and intellectual disability to severe neurodevelopmental disease with seizures 13. Notably, some loss-of-function variants cause developmental delay without seizures 3. CACNA1I variants are associated with schizophrenia risk through altered channel function and dysregulated expression 456. Reduced CaV3.3 function may protect against schizophrenia in some cases 6. T-type channel blockers represent a viable treatment option for CACNA1I-related neurodevelopmental disorders 2.

Sources cited
1
CACNA1I encodes CaV3.3 T-type calcium channel; gain-of-function mutations affect channel gating causing neurodevelopmental disorders with variable phenotypes from borderline intellectual functioning to severe developmental delay with epilepsy
PMID: 33704440
2
CaV3.3 is expressed in thalamic reticular nucleus neurons; de novo CACNA1I missense mutations cause gain-of-function with increased calcium load and neuronal hyperexcitability; T-type channel blockers proposed as treatment
PMID: 36592228
3
CACNA1I activation-gate-modifying variants show both gain- and loss-of-function effects; substantial gain-of-function leads to seizures while both gain- and loss-of-function variants cause neurodevelopmental disease
PMID: 40825030
4
CACNA1I gene polymorphisms significantly associated with schizophrenia risk in Uighur Chinese population
PMID: 28725167
5
CACNA1I SNP rs4522708 significantly associated with schizophrenia in Chinese population; CACNA1I upregulated in hippocampus of schizophrenia cases
PMID: 29308060
6
Rare CACNA1I coding variants in schizophrenia cohort show altered voltage-dependence and current density; reduced CaV3.3 function may protect against schizophrenia risk
PMID: 34919654
7
CACNA1I variations associated with intellectual disability and global developmental delay; calcium channelopathies play major role in ID/GDD through gain- and loss-of-function mechanisms
PMID: 33985586
8
T-type Cav3 channels including CaV3.3 regulate neuronal excitability, sensory processing, sleep, and neurotransmitter release; mutations linked to neurodevelopmental, neurological, and psychiatric diseases
PMID: 32638069
Disease Associationsβ“˜21
neurodevelopmental disorder with speech impairment and with or without seizuresOpen Targets
0.63Moderate
epilepsyOpen Targets
0.61Moderate
SeizureOpen Targets
0.60Moderate
neuropathic painOpen Targets
0.60Moderate
fibromyalgiaOpen Targets
0.60Moderate
restless legs syndromeOpen Targets
0.58Moderate
neuralgiaOpen Targets
0.58Moderate
anxiety disorderOpen Targets
0.57Moderate
postherpetic neuralgiaOpen Targets
0.57Moderate
schizophreniaOpen Targets
0.55Moderate
spinal cord injuryOpen Targets
0.54Moderate
cardiovascular diseaseOpen Targets
0.50Moderate
Focal-onset seizureOpen Targets
0.48Moderate
intelligenceOpen Targets
0.47Moderate
alcohol drinkingOpen Targets
0.44Moderate
Urinary incontinenceOpen Targets
0.43Moderate
PainOpen Targets
0.42Moderate
diabetic neuropathyOpen Targets
0.41Moderate
generalized anxiety disorderOpen Targets
0.40Weak
insomniaOpen Targets
0.40Weak
Neurodevelopmental disorder with speech impairment and with or without seizuresUniProt
Pathogenic Variants6
NM_021096.4(CACNA1I):c.2059A>G (p.Met687Val)Likely pathogenic
Neurodevelopmental disorder with speech impairment and with or without seizures
β˜…β˜†β˜†β˜†2025β†’ Residue 687
NM_021096.4(CACNA1I):c.3704A>C (p.Tyr1235Ser)Likely pathogenic
Neurodevelopmental disorder with speech impairment and with or without seizures
β˜…β˜†β˜†β˜†2025β†’ Residue 1235
NM_021096.4(CACNA1I):c.3474-2_3476delPathogenic
Neurodevelopmental disorder with speech impairment and with or without seizures
β˜†β˜†β˜†β˜†2024
NM_021096.4(CACNA1I):c.2579T>A (p.Ile860Asn)Pathogenic
Neurodevelopmental disorder with speech impairment and with or without seizures
β˜†β˜†β˜†β˜†2022β†’ Residue 860
NM_021096.4(CACNA1I):c.2580C>G (p.Ile860Met)Pathogenic
Neurodevelopmental disorder with speech impairment and with or without seizures
β˜†β˜†β˜†β˜†2022β†’ Residue 860
NM_021096.4(CACNA1I):c.4275G>A (p.Met1425Ile)Pathogenic
Neurodevelopmental disorder with speech impairment and with or without seizures
β˜†β˜†β˜†β˜†2022β†’ Residue 1425
View on ClinVar β†—
Drug Targets19
APINOCALTAMIDEPhase II
Voltage-gated T-type calcium channel blocker
photosensitive epilepsy
ATAGABALINPhase II
Voltage-gated calcium channel modulator
insomnia
BEPRIDILApproved
Voltage-gated calcium channel blocker
cardiovascular disease
ETHOSUXIMIDEApproved
Voltage-gated T-type calcium channel blocker
epilepsy
GABAPENTINApproved
Voltage-gated calcium channel modulator
epilepsy
GABAPENTIN ENACARBILApproved
Voltage-gated calcium channel modulator
restless legs syndrome
IMAGABALINPhase III
Voltage-gated calcium channel modulator
generalized anxiety disorder
METHSUXIMIDEApproved
Voltage-gated T-type calcium channel blocker
Seizure
MIBEFRADILApproved
Voltage-gated T-type calcium channel blocker
cardiovascular disease
MIBEFRADIL DIHYDROCHLORIDEUNKNOWN
Voltage-gated T-type calcium channel blocker
PARAMETHADIONEApproved
Voltage-gated T-type calcium channel blocker
fetal trimethadione syndrome
PHENSUXIMIDEApproved
Voltage-gated T-type calcium channel blocker
epilepsy
PHLOROGLUCINOLApproved
Voltage-gated calcium channel blocker
gastrointestinal disease
PREGABALINApproved
Voltage-gated calcium channel modulator
neuropathic pain
SULOCTIDILApproved
Voltage-gated calcium channel blocker
cardiovascular disease
SUVECALTAMIDEPhase II
Voltage-gated T-type calcium channel modulator
epilepsy
TERODILINEApproved
Muscarinic acetylcholine receptor antagonist
Urinary incontinence
TERODILINE HYDROCHLORIDEUNKNOWN
Muscarinic acetylcholine receptor antagonist
TRIMETHADIONEApproved
Voltage-gated T-type calcium channel blocker
epilepsy
Related Genes
ESR2Protein interaction98%SCN8AProtein interaction94%TRPC1Protein interaction93%TRPC5Protein interaction93%CALM3Protein interaction85%CALML3Protein interaction85%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
31%
Lung
7%
Ovary
2%
Liver
1%
Heart
0%
Gene Interaction Network
Click a node to explore
CACNA1IESR2SCN8ATRPC1TRPC5CALM3CALML3
PROTEIN STRUCTURE
Preparing viewer…
PDB7WLI Β· 3.30 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.53Moderately Constrained
pLIβ“˜
0.01Tolerant
Observed/Expected LoF0.43 [0.35–0.53]
RankingsWhere CACNA1I stands among ~20K protein-coding genes
  • #10,743of 20,598
    Most Researched36
  • #126of 1,025
    FDA-Approved Drug Targets13 Β· top quartile
  • #3,418of 5,498
    Most Pathogenic Variants6
  • #3,270of 17,882
    Most Constrained (LOEUF)0.53 Β· top quartile
Genes detectedCACNA1I
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Calcium channelopathies and intellectual disability: a systematic review.
PMID: 33985586
Orphanet J Rare Dis Β· 2021
1.00
2
Ca
PMID: 36592228
Handb Exp Pharmacol Β· 2023
0.90
3
CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders.
PMID: 33704440
Brain Β· 2021
0.80
4
Genetic risk between the
PMID: 28725167
Hereditas Β· 2018
0.70
5
Analysing an allelic series of rare missense variants of CACNA1I in a Swedish schizophrenia cohort.
PMID: 34919654
Brain Β· 2022
0.60