KCTD13
Potassium Channel Tetramerization Domain Containing 13; a BTB domain-containing protein implicated in neurodevelopmental disorders and cancer
Gene Information Card
| Symbol | KCTD13 |
|---|---|
| Full Name | Potassium Channel Tetramerization Domain Containing 13 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p11.2 |
| NCBI Gene ID | 253980 ncbi.nlm.nih.gov/gene/253980 |
| Ensembl ID | ENSG00000166851 |
| UniProt ID | Q8WZ19 |
| OMIM ID | 608947 |
| HGNC ID | 22934 |
| Aliases | BTBD5, C16orf45, hBACURD3, PDIP1 |
Description
KCTD13 (Potassium Channel Tetramerization Domain Containing 13) encodes a protein with a BTB (Broad-Complex, Tramtrack, and Bric a brac) domain. It is a component of the CUL3-RING ubiquitin ligase complex, acting as a substrate adaptor. The gene is located in the 16p11.2 chromosomal region, a hotspot for copy number variations associated with neurodevelopmental disorders including autism spectrum disorder, intellectual disability, and schizophrenia. KCTD13 is also implicated in cancer through its role in cell proliferation and apoptosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autism spectrum disorder | 16p11.2 deletion/duplication alters KCTD13 dosage, affecting neuronal development and synaptic function | ClinVar, OMIM |
| Schizophrenia | CNVs at 16p11.2 including KCTD13 increase risk; altered expression impacts neurodevelopment | ClinVar, OMIM |
| Intellectual disability | Deletion of 16p11.2 region encompassing KCTD13 leads to cognitive impairment | ClinVar, OMIM |
| Colorectal cancer | KCTD13 overexpression promotes cell proliferation via NF-κB pathway | COSMIC, NCBI Gene |
| Hepatocellular carcinoma | KCTD13 acts as a tumor suppressor; downregulation correlates with poor prognosis | COSMIC, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Testis | 12.8 | Medium |
| Lung | 8.5 | Low |
| Liver | 6.1 | Low |
| Kidney | 7.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.4 | Embryonic kidney cells |
| SH-SY5Y | 22.1 | Neuroblastoma cell line |
| HepG2 | 9.7 | Hepatocellular carcinoma |
| HCT116 | 14.3 | Colorectal carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon; likely loss of function |
| c.214C>T (p.Arg72Trp) | Missense | 0.01% | Alters BTB domain; may affect protein-protein interactions |
| c.487_489del (p.Lys163del) | In-frame deletion | Rare | Deletion in C-terminal region; functional impact unknown |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt the BTB domain or abolish protein expression impair CUL3-mediated ubiquitination, leading to substrate accumulation and altered cell signaling.
Gain of Function (GOF)
Not well documented; overexpression in cancer suggests potential oncogenic gain-of-function in specific contexts.
Dominant Negative (DN)
Truncating or missense variants in the BTB domain may interfere with CUL3 complex assembly, acting in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
• CUL3-RING ubiquitin ligase complex (Reactome: R-HSA-8951664)
• NF-kappaB signaling (Reactome: R-HSA-975956)
Protein Summary
KCTD13 is a 327-amino acid protein containing an N-terminal BTB domain that mediates homodimerization and interaction with CUL3. It functions as a substrate-specific adaptor for the CUL3-RING E3 ubiquitin ligase complex, targeting proteins such as RhoA for ubiquitination and degradation. This regulation influences actin cytoskeleton dynamics, cell migration, and proliferation. KCTD13 is widely expressed, with highest levels in brain and testis. Its dysregulation is linked to neurodevelopmental disorders and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KCTD13 Knockout HEK293 Cell Line | EDJ-KQ11002 | Human | 253980 | Details Get a Quote |
| KCTD13 Knockout A-549 Cell Line | EDJ-KQ40128 | Human | 253980 | Details Get a Quote |
| KCTD13 Knockout HCT 116 Cell Line | EDJ-KQ40130 | Human | 253980 | Details Get a Quote |
| KCTD13 Knockout HeLa Cell Line | EDJ-KQ40131 | Human | 253980 | Details Get a Quote |
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