KCNJ18 Gene Summary [Human]

This gene encodes a member of the inwardly rectifying potassium channel family. Transcription of this locus is regulated by thyroid hormone, and the encoded protein plays a role in resting membrane potential maintenance. Mutations in this locus have been associated with thyrotoxic hypokalemic periodic paralysis. [provided by RefSeq, Jan 2013]

Details

Type
Protein Coding
Official Symbol
KCNJ18
Official Name
potassium inwardly rectifying channel subfamily J member 18 [Source:HGNC Symbol;Acc:HGNC:39080]
Ensembl ID
ENSG00000260458
Bio databases IDs NCBI: 100134444 Ensembl: ENSG00000260458
Aliases potassium inwardly rectifying channel subfamily J member 18
Synonyms KIR2.6, potassium inwardly rectifying channel subfamily J member 18, TTPP2
Species
Human, Homo sapiens

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 KCNJ18 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • inward rectifier potassium channel
  • Inward rectifier potassium channel C-terminal domain
  • Inward rectifier potassium channel transmembrane domain
  • protein binding
  • Inward rectifier potassium channel N-terminal
  • 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
  • susceptibility to thyrotoxic periodic paralysis type 2

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
  • Endoplasmic Reticulum

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human KCNJ18 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • regulation of ion transmembrane transport

Cellular Component

Where in the cell the gene product is active
  • ion channel complex
  • plasma membrane

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • inward rectifier potassium channel activity

Gene-Specific Assays for Results You Can Trust

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