KCTD13

Chr 16

potassium channel tetramerization domain containing 13

Also known as: BACURD1, FKSG86, PDIP1, POLDIP1, hBACURD1

NCBI Gene: 253980ENSG00000174943UniProt: Q8WZ19OMIM: 608947

The protein functions as a substrate-specific adapter in a BCR E3 ubiquitin ligase complex that degrades RHOA to regulate the actin cytoskeleton and promote synaptic transmission. Mutations cause neurodevelopmental disorders including intellectual disability, autism spectrum disorder, and developmental delay, typically with autosomal dominant inheritance. This gene is not highly constrained against loss-of-function variants, suggesting that both loss and gain of function may contribute to pathogenicity in different contexts.

OMIMResearchSummary from RefSeq, UniProt
DNmechanismLOEUF 0.95
Clinical Summary— KCTD13
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
279 unique Pathogenic / Likely Pathogenic· 55 VUS of 354 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.95LOEUF
pLI 0.001
Z-score 1.71
OE 0.51 (0.29–0.95)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
1.92Z-score
OE missense 0.63 (0.55–0.73)
138 obs / 217.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.51 (0.29–0.95)
0≤0.351.4
Missense OE0.63 (0.55–0.73)
0≤0.61.4
Synonymous OE0.93
0≤1.21.6
LoF obs/exp: 7 / 13.9Missense obs/exp: 138 / 217.7Syn Z: 0.52
DN
0.6745th %ile
GOF
0.6150th %ile
LOF
0.3745th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

354 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic236
Likely Pathogenic43
VUS55
Likely Benign3
236
Pathogenic
43
Likely Pathogenic
55
VUS
3
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
236
0
236
Likely Pathogenic
0
0
43
0
43
VUS
1
41
13
0
55
Likely Benign
0
0
1
2
3
Benign
0
0
0
0
0
Total1412932337

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

KCTD13 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 4 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients