KCNJ13 Gene Summary [Human]
This gene encodes a member of the inwardly rectifying potassium channel family of proteins. Members of this family form ion channel pores that allow potassium ions to pass into a cell. The encoded protein belongs to a subfamily of low signal channel conductance proteins that have a low dependence on potassium concentration. Mutations in this gene are associated with snowflake vitreoretinal degeneration. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010]
Details
| Type | Protein Coding |
| Official Symbol | KCNJ13 |
| Official Name | potassium inwardly rectifying channel subfamily J member 13 [Source:HGNC Symbol;Acc:HGNC:6259] |
| Ensembl ID | ENSG00000115474 |
| Bio databases IDs | |
| Aliases | potassium inwardly rectifying channel subfamily J member 13 |
| Synonyms | KIR1.4, KIR7.1, LCA16, LOC100045137, potassium inwardly rectifying channel subfamily J member 13, potassium inwardly-rectifying channel, subfamily J, member 13, SVD |
| Species | Human, Homo sapiens |
| Orthologies |
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 KCNJ13 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 C-terminal domain
- Inward rectifier potassium channel transmembrane domain
- ion channel
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
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
- cellular membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human KCNJ13 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- potassium ion transport
- 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
- inward rectifier potassium channel activity