KCTD7 Gene Summary [Human]

This gene encodes a member of the potassium channel tetramerization domain-containing protein family. Family members are identified on a structural basis and contain an amino-terminal domain similar to the T1 domain present in the voltage-gated potassium channel. Mutations in this gene have been associated with progressive myoclonic epilepsy-3. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2011]

Details

Type
Protein Coding
Official Symbol
KCTD7
Official Name
potassium channel tetramerization domain containing 7 [Source:HGNC Symbol;Acc:HGNC:21957]
Ensembl ID
ENSG00000243335
Bio databases IDs NCBI: 154881 Ensembl: ENSG00000243335
Aliases potassium channel tetramerization domain containing 7
Synonyms 4932409E18, 9430010P06RIK, CLN14, EPM3, FLJ32069, LOC687365, potassium channel tetramerisation domain containing 7, potassium channel tetramerization domain containing 7
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human KCTD7 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Broad-Complex, Tramtrack and Bric a brac
  • BTB_POZ
  • BTB/POZ domain
  • protein binding
  • identical protein binding
  • ion channel

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • progressive myoclonic epilepsy type 3 with intracellular inclusions
  • progressive myoclonic epilepsy type 3 without intracellular inclusions
  • progressive myoclonic epilepsy
  • hereditary disorder
  • neuronal ceroid lipofuscinosis
  • progressive myoclonic epilepsy type 3
regulated by
regulates
  • K+
role in cell
  • hyperpolarization

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Plasma Membrane
  • Cytoplasm
  • cytosol

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human KCTD7 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • cellular potassium ion homeostasis
  • protein homooligomerization
  • membrane hyperpolarization
  • positive regulation of transporter activity

Cellular Component

Where in the cell the gene product is active
  • cytoplasm
  • cytosol
  • plasma membrane

Molecular Function

What the gene product does at the molecular level
  • protein binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.