KCTD7
Potassium Channel Tetramerization Domain Containing 7
Gene Information Card
| Symbol | KCTD7 |
|---|---|
| Full Name | Potassium Channel Tetramerization Domain Containing 7 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q11.21 |
| NCBI Gene ID | 154881 ncbi.nlm.nih.gov/gene/154881 |
| Ensembl ID | ENSG00000146535 |
| UniProt ID | Q96MP8 |
| OMIM ID | 611725 |
| HGNC ID | 24956 |
| Aliases | CLN14, EPM3, hKCTD7 |
Description
KCTD7 encodes a member of the potassium channel tetramerization domain (KCTD) family. The protein contains a BTB/POZ domain and is involved in neuronal development and function. Mutations in KCTD7 are associated with progressive myoclonic epilepsy type 3 (EPM3) and neuronal ceroid lipofuscinosis type 14 (CLN14), both characterized by neurodegeneration and seizures.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Progressive myoclonic epilepsy type 3 (EPM3) | Loss-of-function mutations impair protein function, leading to neuronal hyperexcitability and myoclonus. | OMIM #611725 |
| Neuronal ceroid lipofuscinosis type 14 (CLN14) | Defective KCTD7 disrupts lysosomal function and autophagy, causing accumulation of lipofuscin. | OMIM #611725 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Cerebellum | 6.8 | Low |
| Cerebral cortex | 4.9 | Low |
| Testis | 3.1 | Low |
| Heart | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 3.8 | Neuronal cell line |
| HEK 293 | 2.1 | Embryonic kidney |
| U-87 MG | 1.9 | Glioblastoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.550C>T (p.Arg184Trp) | Missense | Rare | Loss of function; associated with EPM3 |
| c.679C>T (p.Arg227*) | Nonsense | Rare | Premature truncation; loss of function |
| c.892G>A (p.Gly298Arg) | Missense | Rare | Impaired protein stability; CLN14 |
Mutation functional classification
Loss of Function (LOF)
Most KCTD7 mutations result in loss of function, leading to reduced protein stability or impaired interactions.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
Not reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • protein homodimerization activity | • identical protein binding |
| • potassium channel regulator activity | • cytoplasm |
| • cytosol | • plasma membrane |
| • neuronal cell body |
Pathways
• Autophagy
• Lysosomal degradation
• Neuronal signaling
Protein Summary
KCTD7 is a 289-amino acid protein with a BTB/POZ domain that mediates protein-protein interactions. It localizes to the cytoplasm and plasma membrane, and is involved in regulating potassium channels, autophagy, and lysosomal function. Defects lead to neurodegeneration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KCTD7 Knockout HEK293 Cell Line | EDJ-KQ13906 | Human | 154881 | Details Get a Quote |
| KCTD7 Knockout A-549 Cell Line | EDJ-KQ43762 | Human | 154881 | Details Get a Quote |
| KCTD7 Knockout HCT 116 Cell Line | EDJ-KQ43763 | Human | 154881 | Details Get a Quote |
| KCTD7 Knockout HeLa Cell Line | EDJ-KQ43764 | Human | 154881 | Details Get a Quote |
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