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Description for Protein TRPM6

transient receptor potential cation channel, subfamily M, member 6
2 total interacting proteins; 2 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/1)
(platelet: 1)
Summary:
This gene is predominantly expressed in the kidney and colon, and encodes a protein containing an ion channel domain and a protein kinase domain. It is crucial for magnesium homeostasis, and plays an essential role in epithelial magnesium transport and in the active magnesium absorption in the gut and kidney. Mutations in this gene are associated with hypomagnesemia with secondary hypocalcemia. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    2.7.11.1
    KEGG - Orthology:
    K04981
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    TRPM6 Channel kinase 2; CHAK2; Melastatin related TRP cation channel 6; HSH; HMGX; HOMG
    Approved Symbol:
    TRPM6
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 2
    Human (de-) phosphorylation sites: 2; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 1
    Human phosphorylation targets: 1; Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Hypomagnesemia with secondary hypocalcemia(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 6
    • Additional Identifiers:

    HPRD: 06112 Entrez Gene ID: 140803 OMIM ID: 607009 Swissprot Accession: Q9BX84;