MCOLN2 - mucolipin TRP cation channel 2 Gene
Also Known as TRPML2; TRP-ML2
Species: Homo sapiens
About MCOLN2
This gene has 6 transcripts (splice variants), 198 orthologues and 2 paralogues. Broad expression in lymph node (RPKM 3.6), spleen (RPKM 2.0) and 14 other tissues.
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]
MCOLN2 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001330647.2 | NP_001317576.1 | mucolipin-2 isoform 2 |
| NM_153259.4 | NP_694991.2 | mucolipin-2 isoform 1 |
MCOLN2 Protein Structure
PKD_channel: Polycystin cation channel (379 - 513)
- 0
- 100
- 200
- 300
- 400
- 500
- 566 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
mucolipin-2 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Mucolipidosis Iv |
|
|
| Mucolipidosis |
|
Related Agents
- Pre-clinical Phase
Pre-clinical Phase
| Cat. No. | Product Name |
Effect
|
Purity |
Rare Diseases
|
|---|---|---|---|---|
| HY-RS08245 | MCOLN2 Human Pre-designed siRNA Set A | Pre-designed Set | / | Unkown |
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