CNNM2 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 an important role in magnesium homeostasis by mediating the epithelial transport and renal reabsorption of Mg2+. Mutations in this gene are associated with renal hypomagnesemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
Details
| Type | Protein Coding |
| Official Symbol | CNNM2 |
| Official Name | cyclin and CBS domain divalent metal cation transport mediator 2 [Source:HGNC Symbol;Acc:HGNC:103] |
| Ensembl ID | ENSG00000148842 |
| Bio databases IDs | |
| Aliases | cyclin and CBS domain divalent metal cation transport mediator 2 |
| Synonyms | ACDP2, Clp2, cyclin and CBS domain divalent metal cation transport mediator 2, cyclin M2, HOMG6, HOMGSMR |
| 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 CNNM2 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
- ATP binding
- magnesium ion transporter
- transporter
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hypertension
- gout
- angina pectoris
- migraines
- schizophrenia
- coronary artery disease
- hypomagnesemia, seizures, and mental retardation 1
- essential hypertension
- myocardial infarction
- renal hypomagnesemia type 6
role in cell
- formation in
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
- glutaminergic synapse
- basolateral membrane
- synapse
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CNNM2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- transport
- magnesium ion homeostasis
Cellular Component
Where in the cell the gene product is active
- basolateral plasma membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- ATP binding
- magnesium ion transmembrane transporter activity