CNNM4 Gene Summary [Human]
This gene encodes a member of the ancient conserved domain containing protein family. Members of this protein family contain a cyclin box motif and have structural similarity to the cyclins. The encoded protein may play a role in metal ion transport. Mutations in this gene are associated with Jalili syndrome which consists of cone-rod dystrophy and amelogenesis imperfecta. [provided by RefSeq, Feb 2010]
Details
| Type | Protein Coding |
| Official Symbol | CNNM4 |
| Official Name | cyclin and CBS domain divalent metal cation transport mediator 4 [Source:HGNC Symbol;Acc:HGNC:105] |
| Ensembl ID | ENSG00000158158 |
| Bio databases IDs | |
| Aliases | cyclin and CBS domain divalent metal cation transport mediator 4 |
| Synonyms | 5430430O18Rik, ACDP4, cyclin and CBS domain divalent metal cation transport mediator 4, CYCLIN M4 |
| 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 CNNM4 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- CBS_pair_SF
- Cyclin M transmembrane N-terminal domain
- sodium ion transporter
- protein binding
- magnesium ion transporter
- CAP_ED
- transporter
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
- cell periphery
- basolateral membrane
- perikaryon
- dendrites
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CNNM4 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- enamel mineralization
- magnesium ion transport
- sodium ion transmembrane transport
- visual perception
- cellular cation homeostasis
- magnesium ion homeostasis
Cellular Component
Where in the cell the gene product is active
- macromolecular complex
- basolateral plasma membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- magnesium ion transmembrane transporter activity
- sodium ion transmembrane transporter activity