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].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
Namemucolipin 2 OMIM IDMIM:607399 Ensembl IDEnsembl:ENSG00000153898 HGNC IDHGNC:HGNC:13357 PHARMGKB IDPA134913691 Map Location1p22.3 | |||||
GO terms in MCOLN2
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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 |
Gene expression in normal tissue: MCOLN2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in MCOLN2
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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 |
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Gene-Drug: Aster Plot
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Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD748 | PHA-665752 | 1 |
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Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in MCOLN2
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
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