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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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KCTD16
potassium channel tetramerization domain containing 16
Chromosome 5 · 5q31.3
NCBI Gene: 57528Ensembl: ENSG00000183775.11HGNC: HGNC:29244UniProt: A8K8W2
17PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingnervous system developmentregulation of G protein-coupled receptor signaling pathwaypostsynaptic membraneAbnormality of the skeletal systemskin diseaseeye diseaseKidney Cyst
✦AI Summary

KCTD16 (potassium channel tetramerization domain containing 16) functions as an auxiliary subunit of GABA-B receptors that modulates receptor pharmacology and kinetics. Structurally, KCTD16 forms an open pentameric oligomerization domain that directly binds to the GABAB2 receptor C-terminus, with specific interfacial residues conserved among KCTD family members 1. This interaction increases agonist potency and alters G-protein signaling by accelerating onset and promoting desensitization. KCTD16 is implicated in nervous system development and neurodevelopmental disorders; genome-wide analysis identified KCTD16 as a candidate gene in autism spectrum disorder 2. Clinically, KCTD16 autoantibodies serve as a critical paraneoplastic marker. In anti-GABABR encephalitis, KCTD16 antibodies are present in 95% of paraneoplastic cases versus 33% of non-paraneoplastic cases 3, strongly correlating with underlying small-cell lung carcinoma 4. Patients with paraneoplastic anti-GABABR disease and KCTD16 antibodies present with severe seizures, cognitive impairment, and behavioral changes 3. Notably, nonparaneoplastic GABABR-encephalitis patients rarely have KCTD16 antibodies (6%) and show better neurological outcomes than paraneoplastic cases 5, highlighting KCTD16's role in tumor immune tolerance breakdown.

Sources cited
1
KCTD16 forms an open pentamer that binds GABAB2 receptor and modulates G protein signaling kinetics
PMID: 30971491
2
KCTD16 identified as candidate gene in autism spectrum disorder with potentially pathogenic variants
PMID: 39632905
3
KCTD16 antibodies present in 95% of paraneoplastic anti-GABABR encephalitis and correlate with lung carcinoma
PMID: 31009048
4
KCTD16 overexpression specific to anti-GABABR PNS; chromosome 5q gain containing KCTD16 common in anti-GABABR cases
PMID: 37638563
5
KCTD16 antibodies rare in nonparaneoplastic GABABR-encephalitis (6%) versus paraneoplastic cases (87%)
PMID: 38657198
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.31Weak
skin diseaseOpen Targets
0.30Weak
eye diseaseOpen Targets
0.28Weak
Kidney CystOpen Targets
0.28Weak
diabetes mellitusOpen Targets
0.27Weak
cystitisOpen Targets
0.26Weak
urethritisOpen Targets
0.26Weak
jaw diseaseOpen Targets
0.25Weak
dysthymic disorderOpen Targets
0.25Weak
major depressive disorderOpen Targets
0.25Weak
mood disorderOpen Targets
0.25Weak
cholelithiasisOpen Targets
0.25Weak
ovarian neoplasmOpen Targets
0.25Weak
depressive disorderOpen Targets
0.25Weak
respiratory tract infectious disorderOpen Targets
0.23Weak
immune system diseaseOpen Targets
0.23Weak
mental or behavioural disorderOpen Targets
0.21Weak
insomniaOpen Targets
0.21Weak
restless legs syndromeOpen Targets
0.19Weak
tricuspid valve diseaseOpen Targets
0.18Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
KCTD8Shared pathway100%GABBR2Protein interaction96%KCTD12Shared pathway75%CNTNAP3BShared pathway33%KCTD4Shared pathway33%BARHL2Shared pathway33%
Tissue Expression6 tissues
Brain
100%
Lung
3%
Heart
1%
Ovary
0%
Liver
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
KCTD16KCTD8GABBR2KCTD12CNTNAP3BKCTD4BARHL2
PROTEIN STRUCTURE
Preparing viewer…
PDB6QB7 · 2.23 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.54Moderately Constrained
pLIⓘ
0.94Intolerant
Observed/Expected LoF0.32 [0.19–0.54]
RankingsWhere KCTD16 stands among ~20K protein-coding genes
  • #15,029of 20,598
    Most Researched17
  • #3,384of 17,882
    Most Constrained (LOEUF)0.54 · top quartile
Genes detectedKCTD16
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Different Genetic Signatures of Small-Cell Lung Cancer Characterize Anti-GABA
PMID: 37638563
Ann Neurol · 2023
1.00
2
Comparative Study of Paraneoplastic and Nonparaneoplastic Autoimmune Encephalitis With GABA
PMID: 38657198
Neurol Neuroimmunol Neuroinflamm · 2024
0.90
3
The genetic landscape of autism spectrum disorder in an ancestrally diverse cohort.
PMID: 39632905
NPJ Genom Med · 2024
0.80
4
Early Treatment With Intravenous Immunoglobulins and Outcomes of Patients With Anti-IgLON5 Disease.
PMID: 40758377
JAMA Neurol · 2025
0.70
5
KCTD: A new gene family involved in neurodevelopmental and neuropsychiatric disorders.
PMID: 31197948
CNS Neurosci Ther · 2019
0.60