KCTD3
Potassium Channel Tetramerization Domain Containing 3
Gene Information Card
| Symbol | KCTD3 |
|---|---|
| Full Name | Potassium Channel Tetramerization Domain Containing 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q41 |
| NCBI Gene ID | 51133 ncbi.nlm.nih.gov/gene/51133 |
| Ensembl ID | ENSG00000117569 |
| UniProt ID | Q9Y5K3 |
| OMIM ID | 613272 |
| HGNC ID | 21349 |
| Aliases | BTBD2, C1orf2, FLJ20035, KIAA1310 |
Description
KCTD3 (potassium channel tetramerization domain containing 3) is a protein-coding gene located on chromosome 1q41. The encoded protein contains a BTB/POZ domain and a potassium channel tetramerization domain, and is involved in protein-protein interactions and ion channel regulation. KCTD3 is expressed in multiple tissues and has been implicated in neurological disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epileptic encephalopathy, early infantile, 54 | De novo missense mutations in KCTD3 are associated with early infantile epileptic encephalopathy, likely through altered protein function affecting neuronal excitability. | ClinVar, OMIM |
| Intellectual disability | Pathogenic variants in KCTD3 have been reported in patients with intellectual disability and developmental delay. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.2 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.8 | Medium |
| Testis | 15.3 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.2 | Moderate expression |
| SH-SY5Y | 14.1 | Higher expression in neuronal cells |
| HeLa | 7.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Cys) | Missense | Rare | Associated with epileptic encephalopathy |
| c.1286G>A (p.Arg429His) | Missense | Rare | Associated with intellectual disability |
Mutation functional classification
Loss of Function (LOF)
Some missense mutations may reduce protein stability or disrupt interactions, leading to loss of function.
Gain of Function (GOF)
Not clearly established for KCTD3 mutations.
Dominant Negative (DN)
Possible for certain missense variants that interfere with normal protein complex formation.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • cytosol (GO:0005829) | • identical protein binding (GO:0042802) |
Pathways
• Not assigned to any specific KEGG or Reactome pathway
Protein Summary
The KCTD3 protein is a 735-amino acid polypeptide containing a BTB/POZ domain and a potassium channel tetramerization domain. It is localized in the cytoplasm and cytosol, and is involved in protein-protein interactions. The protein is expressed in various tissues, with higher levels in brain and testis. Mutations in KCTD3 are associated with early infantile epileptic encephalopathy and intellectual disability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KCTD3 Knockout HEK293 Cell Line | EDJ-KQ10937 | Human | 51133 | Details Get a Quote |
| KCTD3 Knockout A-549 Cell Line | EDJ-KQ37414 | Human | 51133 | Details Get a Quote |
| KCTD3 Knockout HCT 116 Cell Line | EDJ-KQ38723 | Human | 51133 | Details Get a Quote |
| KCTD3 Knockout HeLa Cell Line | EDJ-KQ38724 | Human | 51133 | Details Get a Quote |
