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FLASH GENE
Symbol SLC12A7 contributors: mct/npt - updated : 09-06-2021
HGNC name solute carrier family 12 (potassium/chloride transporters), member 7
HGNC id 10915
DNA
TYPE functioning gene
STRUCTURE 61.68 kb     24 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
24 - 5316 - 1083 - 2018 29884238
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
blood / hematopoieticspleen   highly
Cardiovascularheart   highly
Digestivestomach   highly
Nervousbrain   moderately
 spinal cord    
Reproductivemale systemprostate   
Respiratorylung   highly
UrinarykidneytubuleHenles loop highly Homo sapiens
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal  
Nervousperipherous   
cells
SystemCellPubmedSpeciesStageRna symbol
Digestiveparietal
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period embryo
Text periventricular zone, cranial nerves and choroid plexus
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • twelve transmembrane segments (12TM), 150kDa, receptor with intracytoplasmic and C termini
  • eight phosphorylation sites
  • seven of which are in the C terminus
  • four potential N-glycosylation sites
  • HOMOLOGY
    interspecies homolog to murine Slc12a7
    homolog to C.elegans H16O14.1
    intraspecies homolog to SLC12A4
    homolog to SLC12A6
    Homologene
    FAMILY
  • solute carrier family 12, sodium/potassium/chloride
  • family of electroneutral cation-chloride cotransporters
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
    text expressed in the gastric parietal cells more abundantly at the luminal region of the gland than at the basal region (Fujii 2009)
    basic FUNCTION
  • regulate epithelial ion transport and osmotic homeostasis (Hsu 2007)
  • play an important role in the maintenance of cellular homeostasis (Adragna 2007)
  • with H+,K+-ATPase are the main machineries for basal HCl secretion in the apical canalicular membrane of the resting gastric parietal cell and also may contribute in part to massive acid secretion in the stimulated state (Fujii 2009)
  • glycosylation is likely essential for the surface expression, stabilization, and bioactivity of SLC12A7
  • role for SLC12A6 in the proximal tubule glucose reabsorption mechanism and for SLC12A7 in salt reabsorption of the thick ascending loop of Henle's loop and acid secretion of the collecting duct
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS active transport
    text potassium/chloride-cotransporter
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • WNK4 and PP1 regulate SLC12A7 activity as part of a common signaling module, but that they do not exert their effects through STK39 or carrier dephosphorylation
  • SIRT7 interacts with, stabilizes and modulates SLC12A7 activity through deacetylation, revealing a novel role for SIRT7 in renal physiology
  • cell & other
    REGULATION
    activated by IGF1 (plays an important role in IGF1 receptor signaling to promote growth and spread of breast cancer cells) (Hsu 2007)
    Other regulated in vascular endothelial cells by EGF
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    contribute to IGF1-enhanced KCC activity (Hsu 2007)
    tumoral   amplification    
    alters adrenocortical carcinoma cell adhesion properties to promote an aggressive invasive behavior
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    Kcc4 -/- mice (Boettger,2002)