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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CACNG8
calcium voltage-gated channel auxiliary subunit gamma 8
Chromosome 19 · 19q13.42
NCBI Gene: 59283Ensembl: ENSG00000142408.7HGNC: HGNC:13628UniProt: Q8WXS5
19PubMed Papers
20Diseases
10Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneIon ChannelTransporter
CLINICAL
FDA Approved Target
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingregulation of AMPA receptor activitychannel regulator activityvoltage-gated calcium channel activityepilepsyfibromyalgianeuropathic painSeizure
✦AI Summary

CACNG8 encodes TARP γ-8, a transmembrane AMPA receptor regulatory protein that serves dual roles in synaptic transmission and cardiac function. As an auxiliary subunit, CACNG8 regulates AMPA receptor (AMPAR) trafficking, gating, and synaptic localization by stabilizing specific receptor conformations 1. Structurally, TARP γ-8's large β1 loop selectively engages ligand-binding domains to modulate gating kinetics, slowing activation, deactivation, and desensitization rates while promoting resensitization 1. CACNG8 also regulates L-type calcium channel activity, though its precise cardiac mechanisms require further characterization. Genetically, CACNG8 variants associate with multiple neuropsychiatric and neurodevelopmental disorders. CACNG8 knockout mice exhibit ADHD-like phenotypes including hyperactivity, impulsivity, and cognitive deficits, with human SNP analysis confirming associations with ADHD susceptibility 2. The SNP rs10420324G reduces CACNG8 transcription and correlates with antisocial personality disorder risk; knockout mice display aggression and impulsivity paralleling ASPD features 3. In cardiac disease, CACNG8 downregulation in dilated cardiomyopathy patients inversely correlates with left ventricular ejection fraction (r = -0.78) 4. Additionally, rare CACNG8 variants may modify inherited retinal dystrophy susceptibility through disrupted postsynaptic AMPAR complex assembly 5. These findings establish CACNG8 as a critical regulator of glutamatergic neurotransmission with pleiotropic effects on neural and cardiac function.

Sources cited
1
CACNG8 deficiency causes ADHD-like behaviors in mice and human SNP analysis shows association with ADHD susceptibility
PMID: 36031768
2
TARP γ-8 β1 loop selectively engages AMPAR ligand-binding domains to stabilize gating states and modulates channel kinetics
PMID: 35136046
3
CACNG8 variants may act as genetic modifiers in inherited retinal dystrophies through altered AMPAR postsynaptic complex stability
PMID: 41127817
4
CACNG8 downregulation inversely correlates with left ventricular ejection fraction in dilated cardiomyopathy patients
PMID: 26710323
5
SNP rs10420324G reduces CACNG8 expression and associates with antisocial personality disorder; knockout mice display aggression and impulsivity
PMID: 34099816
Disease Associationsⓘ20
epilepsyOpen Targets
0.61Moderate
fibromyalgiaOpen Targets
0.60Moderate
neuropathic painOpen Targets
0.60Moderate
SeizureOpen Targets
0.60Moderate
restless legs syndromeOpen Targets
0.58Moderate
neuralgiaOpen Targets
0.58Moderate
anxiety disorderOpen Targets
0.57Moderate
postherpetic neuralgiaOpen Targets
0.57Moderate
spinal cord injuryOpen Targets
0.54Moderate
Focal-onset seizureOpen Targets
0.48Moderate
cardiovascular diseaseOpen Targets
0.46Moderate
Urinary incontinenceOpen Targets
0.43Moderate
PainOpen Targets
0.42Moderate
diabetic neuropathyOpen Targets
0.41Moderate
generalized anxiety disorderOpen Targets
0.40Weak
insomniaOpen Targets
0.40Weak
partial epilepsyOpen Targets
0.39Weak
Chronic painOpen Targets
0.39Weak
Hot flashesOpen Targets
0.37Weak
PolyuriaOpen Targets
0.37Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Drug Targets10
ATAGABALINPhase II
Voltage-gated calcium channel modulator
insomnia
BEPRIDILApproved
Voltage-gated calcium channel blocker
cardiovascular disease
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
PHLOROGLUCINOLApproved
Voltage-gated calcium channel blocker
gastrointestinal disease
PREGABALINApproved
Voltage-gated calcium channel modulator
neuropathic pain
SULOCTIDILApproved
Voltage-gated calcium channel blocker
cardiovascular disease
TERODILINEApproved
Muscarinic acetylcholine receptor antagonist
Urinary incontinence
TERODILINE HYDROCHLORIDEUNKNOWN
Muscarinic acetylcholine receptor antagonist
Related Genes
CACNA2D2Protein interaction97%DLG4Protein interaction94%CNIH4Protein interaction92%FKBP1AProtein interaction92%CACNA2D4Protein interaction92%CACNA1CProtein interaction91%
Tissue Expression6 tissues
Brain
100%
Ovary
1%
Liver
1%
Lung
1%
Heart
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
CACNG8CACNA2D2DLG4CNIH4FKBP1ACACNA2D4CACNA1C
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8WXS5
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.41Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.18 [0.09–0.41]
RankingsWhere CACNG8 stands among ~20K protein-coding genes
  • #14,376of 20,598
    Most Researched19
  • #246of 1,025
    FDA-Approved Drug Targets7 · top quartile
  • #2,097of 17,882
    Most Constrained (LOEUF)0.41 · top quartile
Genes detectedCACNG8
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Deficiency of transmembrane AMPA receptor regulatory protein γ-8 leads to attention-deficit hyperactivity disorder-like behavior in mice.
PMID: 36031768
Zool Res · 2022
1.00
2
Mechanisms underlying TARP modulation of the GluA1/2-γ8 AMPA receptor.
PMID: 35136046
Nat Commun · 2022
0.90
3
Multifaceted disruption of AMPA receptor signaling by
PMID: 41127817
Comput Struct Biotechnol J · 2025
0.80
4
Patients with Dilated Cardiomyopathy and Sustained Monomorphic Ventricular Tachycardia Show Up-Regulation of KCNN3 and KCNJ2 Genes and CACNG8-Linked Left Ventricular Dysfunction.
PMID: 26710323
PLoS One · 2015
0.70
5
SNP rs10420324 in the AMPA receptor auxiliary subunit TARP γ-8 regulates the susceptibility to antisocial personality disorder.
PMID: 34099816
Sci Rep · 2021
0.60