KCTD12
Potassium Channel Tetramerization Domain Containing 12
Gene Information Card
| Symbol | KCTD12 |
|---|---|
| Full Name | Potassium Channel Tetramerization Domain Containing 12 |
| Gene Type | Protein coding |
| Chromosomal Location | 13q22.3 |
| NCBI Gene ID | 115207 ncbi.nlm.nih.gov/gene/115207 |
| Ensembl ID | ENSG00000132912 |
| UniProt ID | Q96CX2 |
| OMIM ID | 611275 |
| HGNC ID | 14678 |
| Aliases | PFET1, C13orf2, KCTD12.1 |
Description
KCTD12 (potassium channel tetramerization domain containing 12) is a protein-coding gene located on chromosome 13q22.3. It encodes a member of the KCTD family, characterized by a BTB/POZ domain similar to the tetramerization domain of voltage-gated potassium channels. KCTD12 acts as an auxiliary subunit of GABA-B receptors, modulating receptor desensitization and signaling. It is also implicated in tumor suppression and neuronal development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neuroblastoma | Altered expression may contribute to tumorigenesis; KCTD12 is a candidate tumor suppressor gene. | PMID: 19029980 |
| Colorectal cancer | Downregulation of KCTD12 is associated with poor prognosis and metastasis. | PMID: 22198284 |
| Hepatocellular carcinoma | Reduced KCTD12 expression correlates with aggressive tumor features. | PMID: 25652263 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Cerebellum | 15.3 | Medium |
| Heart | 3.2 | Low |
| Liver | 1.8 | Low |
| Testis | 8.7 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 10.2 | Moderate expression |
| HEK293 (embryonic kidney) | 5.6 | Low expression |
| HepG2 (hepatocellular carcinoma) | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487C>T (p.Arg163Trp) | Missense | <0.01% | Unknown functional effect |
| c.632A>G (p.Tyr211Cys) | Missense | <0.01% | Reported in ClinVar as uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; reduced expression in tumors suggests potential tumor suppressor role.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor signaling pathway | • regulation of synaptic transmission |
| • protein homooligomerization | • BTB domain binding |
| • identical protein binding |
Pathways
• GABA-B receptor signaling
• Neuroactive ligand-receptor interaction
Protein Summary
The KCTD12 protein (UniProt Q96CX2) contains a BTB/POZ domain and is predominantly expressed in the brain. It functions as a tetramerization domain-containing protein that modulates GABA-B receptor desensitization. KCTD12 is also implicated in tumor suppression, with reduced expression observed in several cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KCTD12 Knockout HEK293 Cell Line | EDJ-KQ7508 | Human | 115207 | Details Get a Quote |
| KCTD12 Knockout HeLa Cell Line | EDJ-KQ31424 | Human | 115207 | Details Get a Quote |
| KCTD12 Knockout HCT 116 Cell Line | EDJ-KQ32779 | Human | 115207 | Details Get a Quote |
| KCTD12 Knockout A-549 Cell Line | EDJ-KQ66439 | Human | 115207 | Details Get a Quote |
