KCTD14
Potassium Channel Tetramerization Domain Containing 14
Gene Information Card
| Symbol | KCTD14 |
|---|---|
| Full Name | Potassium Channel Tetramerization Domain Containing 14 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q24.3 |
| NCBI Gene ID | 65987 ncbi.nlm.nih.gov/gene/65987 |
| Ensembl ID | ENSG00000148848 |
| UniProt ID | Q9BQ13 |
| OMIM ID | 617745 |
| HGNC ID | 28323 |
| Aliases | MGC13170, dJ1181N3.1 |
Description
KCTD14 (Potassium Channel Tetramerization Domain Containing 14) is a protein-coding gene located on chromosome 11q24.3. It encodes a member of the KCTD family, characterized by a BTB/POZ domain similar to the tetramerization domain of voltage-gated potassium channels. The exact biological function of KCTD14 is not fully characterized, but it is thought to be involved in protein-protein interactions and cellular signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not established | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | Moderate expression |
| HeLa | 10.5 | Moderate expression |
| K562 | 7.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • protein homodimerization activity | • identical protein binding |
| • protein-containing complex binding |
Pathways
• No curated pathways available
Protein Summary
The KCTD14 protein (UniProt Q9BQ13) contains a BTB/POZ domain, which is characteristic of the KCTD family. This domain mediates protein-protein interactions and may function in transcriptional regulation or ubiquitination. The full-length protein is 289 amino acids long. Its specific cellular role remains under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KCTD14 Knockout HEK293 Cell Line | EDJ-KQ13910 | Human | 65987 | Details Get a Quote |
| KCTD14 Knockout A-549 Cell Line | EDJ-KQ43767 | Human | 65987 | Details Get a Quote |
| KCTD14 Knockout HCT 116 Cell Line | EDJ-KQ43768 | Human | 65987 | Details Get a Quote |
| KCTD14 Knockout HeLa Cell Line | EDJ-KQ43769 | Human | 65987 | Details Get a Quote |
| NDUFC2-KCTD14 Knockout HEK293 Cell Line | EDJ-KQ52501 | Human | 100532726 | Details Get a Quote |
| NDUFC2-KCTD14 Knockout HeLa Cell Line | EDJ-KQ60964 | Human | 100532726 | Details Get a Quote |
| NDUFC2-KCTD14 Knockout A-549 Cell Line | EDJ-KQ69439 | Human | 100532726 | Details Get a Quote |
| NDUFC2-KCTD14 Knockout HCT 116 Cell Line | EDJ-KQ77790 | Human | 100532726 | Details Get a Quote |
