2. Gene
  3. MCOLN2 - mucolipin TRP cation channel 2 Gene

MCOLN2 - mucolipin TRP cation channel 2 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as TRPML2; TRP-ML2

Gene ID: 255231 | Gene type: protein coding

About MCOLN2

Cytogenetic location: 1p22.3 Genomic coordinates (GRCh38): 1:84,925,583-84,997,113 (from NCBI)

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

PKD_channel: Polycystin cation channel (379 - 513)

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  • 566 a.a.
Protein Preferred Names Protein Names

mucolipin-2

mucolipin 2

Related Diseases

Diseases Alias
Mucolipidosis Iv

Mucolipidosis Type Iv

ML4

Sialolipidosis

Mucolipidosis Type 4

Ganglioside Sialidase Deficiency

Mliv

Ml Iv

Berman Syndrome

Ganglioside Neuraminidase Deficiency

Ml 4

Mucolipidosis 4

Type Iv Mucolipidosis

Gangliosidoses
Mucolipidosis
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS08245 MCOLN2 Human Pre-designed siRNA Set A / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta MCOLN2 VGNC VGNC:74504
Felis catus MCOLN2 VGNC VGNC:63419
Mus musculus MCOLN2 MGD MGI:1915529
Bos taurus MCOLN2 VGNC VGNC:31319
Rattus norvegicus MCOLN2 RGD RGD:1308884