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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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KCTD8
potassium channel tetramerization domain containing 8
Chromosome 4 · 4p13
NCBI Gene: 386617Ensembl: ENSG00000183783.8HGNC: HGNC:22394UniProt: Q6ZWB6
16PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingpostsynaptic membranepresynaptic active zone membraneregulation of G protein-coupled receptor signaling pathwayobesityovernutritionplacenta praeviacardiomyopathy
✦AI Summary

KCTD8 (potassium channel tetramerization domain containing 8) serves as an auxiliary subunit of GABA-B receptors that modulates receptor pharmacology and signaling kinetics 1 2. The protein contains a T1 tetramerization domain that binds to GABA-B2 subunits and an H2 homology domain that inhibits receptor desensitization, generating largely non-desensitizing receptor responses 1. KCTD8 slightly increases GABA affinity and can differentially modulate positive allosteric modulator responses due to its effects on G-protein signaling 2. Beyond GABA-B receptors, KCTD8 directly binds to and potentiates R-type Ca2+ channels (Cav2.3), particularly at presynaptic active zones in the habenula-interpeduncular pathway, where it bidirectionally modulates synaptic transmission independent of GABA-B receptor activation 3. Disease relevance includes associations with brain development under adverse prenatal conditions, where KCTD8 variants interact with maternal smoking exposure to influence cortical development in female adolescents 4. KCTD8 also functions as a tumor suppressor in hepatocellular carcinoma, where its epigenetic silencing through DNA methylation promotes malignancy via PI3K/AKT pathway activation 5. Additionally, KCTD8 variants show associations with type 2 diabetes susceptibility in Arab populations 6.

Sources cited
1
KCTD8 serves as auxiliary subunit generating non-desensitizing GABA-B receptor responses through H2 domain inhibition
PMID: 23035119
2
KCTD8 increases GABA affinity and differentially modulates G-protein signaling and allosteric modulator responses
PMID: 25196734
3
KCTD8 directly binds and potentiates Cav2.3 channels, modulating synaptic transmission independent of GABA-B receptors
PMID: 33913808
4
KCTD8 variants interact with prenatal smoking exposure to influence brain development in female adolescents
PMID: 22156575
5
KCTD8 functions as tumor suppressor in hepatocellular carcinoma, with epigenetic silencing promoting malignancy
PMID: 39023358
6
KCTD8 variants show associations with type 2 diabetes susceptibility in Arab populations
PMID: 23937595
Disease Associationsⓘ20
obesityOpen Targets
0.38Weak
overnutritionOpen Targets
0.30Weak
placenta praeviaOpen Targets
0.29Weak
cardiomyopathyOpen Targets
0.29Weak
exostosisOpen Targets
0.29Weak
fungal lung infectious diseaseOpen Targets
0.28Weak
pneumoniaOpen Targets
0.28Weak
strictureOpen Targets
0.28Weak
esophageal diseaseOpen Targets
0.22Weak
musculoskeletal system diseaseOpen Targets
0.22Weak
VitiligoOpen Targets
0.20Weak
cholelithiasisOpen Targets
0.17Weak
joint diseaseOpen Targets
0.17Weak
Abnormality of the gastrointestinal tractOpen Targets
0.17Weak
cataractOpen Targets
0.16Weak
ovarian dysfunctionOpen Targets
0.16Weak
uterine fibroidOpen Targets
0.16Weak
immune system diseaseOpen Targets
0.16Weak
breast diseaseOpen Targets
0.16Weak
trauma complicationOpen Targets
0.16Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
KCTD16Shared pathway100%KCTD12Shared pathway75%CNTNAP3BShared pathway33%KCTD4Shared pathway33%BARHL2Shared pathway33%OTOGShared pathway33%
Tissue Expression6 tissues
Brain
100%
Ovary
28%
Heart
2%
Bone Marrow
0%
Lung
0%
Liver
0%
Gene Interaction Network
Click a node to explore
KCTD8KCTD16KCTD12CNTNAP3BKCTD4BARHL2OTOG
PROTEIN STRUCTURE
Preparing viewer…
PDB6G57 · 2.80 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.20LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.85 [0.62–1.20]
RankingsWhere KCTD8 stands among ~20K protein-coding genes
  • #15,293of 20,598
    Most Researched16
  • #12,610of 17,882
    Most Constrained (LOEUF)1.20
Genes detectedKCTD8
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
KCTD8 gene and brain growth in adverse intrauterine environment: a genome-wide association study.
PMID: 22156575
Cereb Cortex · 2012
1.00
2
Opposite effects of KCTD subunit domains on GABA(B) receptor-mediated desensitization.
PMID: 23035119
J Biol Chem · 2012
0.90
3
Pharmacological characterization of GABAB receptor subtypes assembled with auxiliary KCTD subunits.
PMID: 25196734
Neuropharmacology · 2015
0.80
4
GABA
PMID: 33913808
Elife · 2021
0.70
5
A genome-wide search for type 2 diabetes susceptibility genes in an extended Arab family.
PMID: 23937595
Ann Hum Genet · 2013
0.60