MCOLN2
Summary: 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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| mucolipin 2 | MIM:607399 | Ensembl:ENSG00000153898 | HGNC:HGNC:13357 | PA134913691 | 1p22.3 |
GO terms in MCOLN2
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IEA | GO:0002250 | adaptive immune response |
| BP | IEA | GO:0035926 | chemokine (C-C motif) ligand 2 secretion |
| BP | IEA | GO:0045087 | innate immune response |
| BP | IEA | GO:0051259 | protein complex oligomerization |
| BP | TAS | GO:0070588 | calcium ion transmembrane transport |
| BP | IEA | GO:0071639 | positive regulation of monocyte chemotactic protein-1 production |
| BP | IEA | GO:0071642 | positive regulation of macrophage inflammatory protein 1 alpha production |
| BP | IEA | GO:0071651 | positive regulation of chemokine (C-C motif) ligand 5 production |
| BP | IEA | GO:1905517 | macrophage migration |
| BP | IEA | GO:1990266 | neutrophil migration |
| BP | IEA | GO:2000343 | positive regulation of chemokine (C-X-C motif) ligand 2 production |
| CC | IBA | GO:0005765 | lysosomal membrane |
| CC | IBA | GO:0005765 | lysosomal membrane |
| CC | IEA | GO:0005765 | lysosomal membrane |
| CC | IBA | GO:0005886 | plasma membrane |
| CC | IBA | GO:0005886 | plasma membrane |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | IBA | GO:0016020 | membrane |
| CC | IEA | GO:0016021 | integral component of membrane |
| CC | IEA | GO:0031902 | late endosome membrane |
| CC | IEA | GO:0055038 | recycling endosome membrane |
| MF | TAS | GO:0005262 | calcium channel activity |
| MF | IBA | GO:0072345 | NAADP-sensitive calcium-release channel activity |
Gene expression in normal tissue: MCOLN2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in MCOLN2
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-2672351 | Stimuli-sensing channels |
| reactome | R-HSA-3295583 | TRP channels |
| reactome | R-HSA-382551 | Transport of small molecules |
| reactome | R-HSA-983712 | Ion channel transport |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in MCOLN2
CLASSFICATION
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