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Description for Protein SLC12A6

solute carrier family 12 (potassium/chloride transporters), member 6
3 total interacting proteins; 2 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 1/0)
(membrane: 1)
Summary:
This gene is a member of the K-Cl cotransporter (KCC) family. K-Cl cotransporters are integral membrane proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The proteins encoded by this gene are activated by cell swelling induced by hypotonic conditions. Alternate splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are associated with agenesis of the corpus callosum with peripheral neuropathy. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    None Available
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    KCC3; KCC3A; KCC3B; Moderately similar to K-Cl cotransporter; Electroneutral potassium-chloride cotransporter 3; K-Cl cotransporter 3; Potassium chloride cotransporter 3; Solute carrier family 12, member 6 isoform d; Solute carrier family 12, member 6 isoform e; Solute carrier family 12, member 6 isoform a
    Approved Symbol:
    SLC12A6
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 52
    Human (de-) phosphorylation sites: 52; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

  • Potassium Chloride(db)

    Associated Genetic Diseases:

  • Agenesis of the corpus callosum with peripheral neuropathy(Pd)
    		• Predicted Transmembrane Domains:
    09220_7(12)
    09220_6(12)
    09220_5(12)
    09220_4(12)
    09220_3(12)
    09220_2(12)
    09220_1(12)
    Additional Identifiers:

    HPRD: 09220 Entrez Gene ID: 9990 OMIM ID: 604878 Swissprot Accession: Q6NSI7; A0AV76; Q9UHW9;