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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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KCTD15
potassium channel tetramerization domain containing 15
Chromosome 19 · 19q13.11
NCBI Gene: 79047Ensembl: ENSG00000153885.16HGNC: HGNC:23297UniProt: Q96SI1
65PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
identical protein bindingprotein bindingnegative regulation of DNA-templated transcriptiontranscription corepressor activityAbnormality of the skeletal systemfacial morphologysmoking behaviortype 2 diabetes mellitus
✦AI Summary

KCTD15 is a multifunctional protein that serves as a transcriptional corepressor and regulator of diverse developmental processes. Its primary function involves inhibiting AP2 transcriptional activity through interaction with its activation domain 1. During embryonic development, KCTD15 plays critical roles in neural crest formation and ectodermal development, forming multimeric complexes with KCTD1 that can compensate for each other's loss 2. The protein regulates the NF-κB signaling pathway, with its upregulation associated with increased pIKK-β and pIκB-α levels in various physiological and pathological contexts 3. KCTD15 is significantly involved in metabolic regulation, particularly fat deposition and adipogenesis. It shows differential expression during adipocyte differentiation and is targeted by miR-381, which promotes adipogenesis by downregulating KCTD15 expression 4. Genetic variants in KCTD15 are associated with obesity, body mass index, and type 2 diabetes risk across multiple populations 5. Disease relevance includes aplasia cutis congenita, where KCTD1/KCTD15 dysfunction in neural crest cells causes midline skull defects 2, eating disorders particularly bulimia nervosa 6, and potential involvement in PFAS-mediated polycystic ovary syndrome pathogenesis 7. Clinical significance encompasses metabolic disorders, neurodevelopmental conditions, and reproductive health.

Sources cited
1
KCTD15 inhibits AP2 transcriptional activity through interaction with its activation domain
PMID: 23382213
2
KCTD15 forms multimeric complexes with KCTD1 and is critical for neural crest formation and ectodermal development
PMID: 38113115
3
KCTD15 regulates NF-κB signaling pathway with upregulation associated with increased pIKK-β and pIκB-α levels
PMID: 34521919
4
KCTD15 is targeted by miR-381 and regulates adipocyte differentiation
PMID: 33137828
5
KCTD15 genetic variants are associated with obesity, BMI, and type 2 diabetes risk
PMID: 20215397
6
KCTD15 rs287103 variant is associated with increased risk of bulimia nervosa
PMID: 28948079
7
KCTD15 is identified as a key target in PFAS-mediated PCOS pathogenesis
PMID: 41719982
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.51Moderate
facial morphologyOpen Targets
0.35Weak
smoking behaviorOpen Targets
0.33Weak
type 2 diabetes mellitusOpen Targets
0.26Weak
cervical carcinomaOpen Targets
0.24Weak
protozoa infectious diseaseOpen Targets
0.18Weak
tooth diseaseOpen Targets
0.18Weak
skin agingOpen Targets
0.16Weak
response to radiationOpen Targets
0.13Weak
lung diseaseOpen Targets
0.11Weak
HyperhidrosisOpen Targets
0.11Weak
refractive errorOpen Targets
0.11Weak
alcohol drinkingOpen Targets
0.09Suggestive
breast cancerOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
acute lymphoblastic leukemiaOpen Targets
0.07Suggestive
frozen shoulderOpen Targets
0.07Suggestive
congenital left-sided heart lesionsOpen Targets
0.06Suggestive
Aortic CoarctationOpen Targets
0.06Suggestive
HeterotaxiaOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
KCTD3Shared pathway100%IKZF4Shared pathway100%KCTD14Shared pathway100%KCTD4Shared pathway100%KCTD18Shared pathway100%SAMD1Shared pathway100%
Tissue Expression6 tissues
Ovary
100%
Lung
77%
Heart
70%
Liver
55%
Bone Marrow
52%
Brain
26%
Gene Interaction Network
Click a node to explore
KCTD15KCTD3IKZF4KCTD14KCTD4KCTD18SAMD1
PROTEIN STRUCTURE
Preparing viewer…
PDB8PNM · 1.94 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.68LoF Tolerant
pLIⓘ
0.30Tolerant
Observed/Expected LoF0.41 [0.26–0.68]
RankingsWhere KCTD15 stands among ~20K protein-coding genes
  • #7,178of 20,598
    Most Researched65
  • #5,072of 17,882
    Most Constrained (LOEUF)0.68
Genes detectedKCTD15
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
KCTD1/KCTD15 complexes control ectodermal and neural crest cell functions, and their impairment causes aplasia cutis.
PMID: 38113115
J Clin Invest · 2023
1.00
2
Association of KCTD15 gene with fat deposition in pigs.
PMID: 34106484
J Anim Physiol Anim Nutr (Berl) · 2022
0.90
3
Multi-level evidence reveals KCTD15 and FAM19A2 as key targets in PFOA/PFOS-mediated PCOS pathogenesis.
PMID: 41719982
Ecotoxicol Environ Saf · 2026
0.80
4
Influence of
PMID: 28948079
Brain Behav · 2017
0.70
5
miR-381 Targets KCTD15 to Regulate Bovine Preadipocyte Differentiation In Vitro.
PMID: 33137828
Horm Metab Res · 2021
0.60