MCOLN2 Gene Summary [Human]
Mucolipins constitute a family of cation channel proteins with homology to the transient receptor potential superfamily. In mammals, the mucolipin family includes 3 members, MCOLN1 (MIM 605248), MCOLN2, and MCOLN3 (MIM 607400), that exhibit a common 6-membrane-spanning topology. Homologs of mammalian mucolipins exist in Drosophila and C. elegans. Mutations in the human MCOLN1 gene cause mucolipodosis IV (MIM 262650) (Karacsonyi et al., 2007 [PubMed 17662026]).[supplied by OMIM, Sep 2009]
Details
| Type | Protein Coding |
| Official Symbol | MCOLN2 |
| Official Name | mucolipin TRP cation channel 2 [Source:HGNC Symbol;Acc:HGNC:13357] |
| Ensembl ID | ENSG00000153898 |
| Bio databases IDs | |
| Aliases | mucolipin TRP cation channel 2 |
| Synonyms | 3300002C04Rik, mucolipin 2, mucolipin TRP cation channel 2, TRP-ML2 |
| 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 MCOLN2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Ion transport protein
- ELD_TRPML
- calcium channel
- iron ion transporter
- 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
- multicentric carpotarsal osteolysis syndrome
role in cell
- cell viability
- recruitment
- production in
- cell death
- migration by
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
- lysosome
- lysosome membrane
- recycling endosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MCOLN2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of monocyte chemotactic protein-1 production
- positive regulation of chemokine (C-C motif) ligand 5 production
- innate immune response
- protein transport
- calcium ion transmembrane transport
- positive regulation of chemokine (C-X-C motif) ligand 2 production
- adaptive immune response
- positive regulation of macrophage inflammatory protein 1 alpha production
- calcium-mediated signaling
- iron ion transmembrane transport
Cellular Component
Where in the cell the gene product is active
- late endosome membrane
- membrane
- recycling endosome membrane
- plasma membrane
- lysosomal membrane
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- NAADP-sensitive calcium-release channel activity
- iron ion transmembrane transporter activity
- calcium channel activity