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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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KCTD13
potassium channel tetramerization domain containing 13
Chromosome 16 · 16p11.2
NCBI Gene: 253980Ensembl: ENSG00000174943.11HGNC: HGNC:22234UniProt: A0A3B3IS45
58PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
proteasome-mediated ubiquitin-dependent protein catabolic processnucleoplasmprotein bindingCul3-RING ubiquitin ligase complexasthmaobesityAbnormality of the skeletal systemschizophrenia
✦AI Summary

KCTD13 encodes a substrate-specific adapter for the BCR(BTB-CUL3-RBX1) E3 ubiquitin ligase complex located on chromosome 16.2, a region frequently affected by copy number variants in neurodevelopmental and neuropsychiatric disorders 1. The primary function of KCTD13 involves regulating RhoA protein degradation through proteasomal ubiquitination, which modulates actin cytoskeleton dynamics and synaptic transmission 23. KCTD13 deficiency impairs neural precursor proliferation and cortical development, with reduced neurite formation and diminished spontaneous neuronal network activity linked to ERBB signaling disruption rather than exclusive RhoA-dependent mechanisms 4. Gene dosage imbalances of KCTD13 contribute to genitourinary tract anomalies including hypospadias and cryptorchidism through altered androgen receptor subcellular localization and SOX9 expression 5. Notably, KCTD10-mediated degradation of KCTD13 is critical for proper brain development; KCTD10 deficiency causes neuronal progenitor abnormalities and reduced layer V neuron populations 6. KCTD13 copy number variants are significantly enriched in patients with genitourinary anomalies (2.58%) compared to controls (0.10%) 5. Therapeutically, targeting the RhoA pathway with ROCK inhibitors restores learning and memory deficits in KCTD13 and 16p11.2 deletion models 7, providing potential intervention strategies for associated neurodevelopmental disorders.

Sources cited
1
KCTD13 is a substrate-specific adapter of BCR(CUL3-RBX1) E3 ligase that mediates RhoA ubiquitination and degradation
PMID: 19782033
2
Kctd13 deletion reduces synaptic transmission through increased RhoA levels; RhoA inhibition reverses this deficit
PMID: 29088697
3
KCTD13 knockout in human iPSC-derived neurons impairs proliferation and neurite formation via ERBB signaling, not RhoA accumulation
PMID: 31402430
4
KCTD13 CNVs are enriched in genitourinary anomalies (2.58% vs 0.10% in controls); loss affects nuclear androgen receptor localization
PMID: 36196997
5
KCTD10 negatively regulates KCTD13 through ubiquitin-dependent degradation; KCTD10 deficiency causes neurodevelopmental abnormalities
PMID: 38489388
6
ROCK inhibitor fasudil restores learning and memory in Kctd13 and 16p11.2 deletion mouse models through RhoA pathway modulation
PMID: 33436060
7
KCTD13 is associated with autism and schizophrenia; KCTD family genes are broadly implicated in neurodevelopmental disorders
PMID: 31197948
8
KCTD13 interacts with Rnd proteins to influence cortical neuron positioning and dendritic development
PMID: 26969432
9
Aberrant polyadenylated KCTD13 transcripts generate defective proteins that form condensates (KeXT bodies) targeted by RNA surveillance
PMID: 39419981
Disease Associationsⓘ20
asthmaOpen Targets
0.22Weak
obesityOpen Targets
0.19Weak
Abnormality of the skeletal systemOpen Targets
0.19Weak
schizophreniaOpen Targets
0.19Weak
bipolar disorderOpen Targets
0.14Weak
lymphoid neoplasmOpen Targets
0.14Weak
musculoskeletal system diseaseOpen Targets
0.14Weak
hypertensionOpen Targets
0.14Weak
chronic rhinosinusitisOpen Targets
0.13Weak
injuryOpen Targets
0.13Weak
arthritisOpen Targets
0.13Weak
type 2 diabetes mellitusOpen Targets
0.12Weak
diabetes mellitusOpen Targets
0.11Weak
ArthropathyOpen Targets
0.10Suggestive
infectionOpen Targets
0.09Suggestive
azoospermiaOpen Targets
0.08Suggestive
hypospadiasOpen Targets
0.08Suggestive
cryptorchidismOpen Targets
0.07Suggestive
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiencyOpen Targets
0.07Suggestive
partial chromosome Y deletionOpen Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RND3Protein interaction99%POLD2Protein interaction99%RND2Protein interaction99%RBX1Protein interaction99%USP25Protein interaction98%GANProtein interaction92%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
92%
Ovary
76%
Liver
49%
Lung
39%
Heart
32%
Gene Interaction Network
Click a node to explore
KCTD13RND3POLD2RND2RBX1USP25GAN
PROTEIN STRUCTURE
Preparing viewer…
PDB4UIJ · 2.70 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.71LoF Tolerant
pLIⓘ
0.05Tolerant
Observed/Expected LoF0.46 [0.31–0.71]
RankingsWhere KCTD13 stands among ~20K protein-coding genes
  • #7,883of 20,598
    Most Researched58
  • #5,478of 17,882
    Most Constrained (LOEUF)0.71
Genes detectedKCTD13
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Gene dosage changes in KCTD13 result in penile and testicular anomalies via diminished androgen receptor function.
PMID: 36196997
FASEB J · 2022
1.00
2
The MTR4/hnRNPK complex surveils aberrant polyadenylated RNAs with multiple exons.
PMID: 39419981
Nat Commun · 2024
0.90
3
KCTD10 regulates brain development by destabilizing brain disorder-associated protein KCTD13.
PMID: 38489388
Proc Natl Acad Sci U S A · 2024
0.80
4
CRISPR/Cas9-mediated Knockout of the Neuropsychiatric Risk Gene KCTD13 Causes Developmental Deficits in Human Cortical Neurons Derived from Induced Pluripotent Stem Cells.
PMID: 31402430
Mol Neurobiol · 2020
0.70
5
Targeting the RHOA pathway improves learning and memory in adult Kctd13 and 16p11.2 deletion mouse models.
PMID: 33436060
Mol Autism · 2021
0.60