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FLASH GENE
Symbol SLC12A7 contributors: mct/npt - updated : 06-10-2009
HGNC name solute carrier family 12 (potassium/chloride transporters), member 7
HGNC id 10915
Location 5p15.33      Physical location : 1.050.490 - 1.112.172
Synonym name
  • electroneutral potassium-chloride cotransporter 4
  • K-Cl cotransporter 4
  • Synonym symbol(s) KCC4, DKFZP434F076
    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
    Physical map
    ZFP62 5q35.3 zinc finger protein 62 homolog (mouse) LOC389256 5 similar to hypothetical protein D630003M21 KIAA1909 5p15.33 KIAA1909 protein LOC389257 5 similar to Hypothetical protein KIAA0014 LOC133957 5p15.33 similar to RIKEN cDNA 0610011N22 SDHA 5p15 succinate dehydrogenase complex, subunit A, flavoprotein (Fp) PDCD6 5pter programmed cell death 6 LOC389258 5 similar to protein phosphatase 4, regulatory subunit 2 LOC391733 5 similar to Microneme antigen AHRR 5p15.3 aryl-hydrocarbon receptor repressor SEC6 SLC9A3 5p15.3 solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 LOC389259 5 LOC389259 FLJ20413 5p15.33 hypothetical protein FLJ20413 FLJ10565 5p15.33 hypothetical protein FLJ10565 p25 5p15.3 brain-specific protein p25 alpha LOC389260 5 similar to zinc finger, DHHC domain containing 11 LOC389261 5 similar to hypothetical protein ZDHHC11 5p15.2 zinc finger, DHHC domain containing 11 FLJ13441 TRIP13 5p15.2 thyroid hormone receptor interactor 13 LOC389262 5 LOC389262 NKD2 5p15.3 naked cuticle homolog 2 (Drosophila) SLC12A7 5p15.3 solute carrier family 12 (potassium/chloride transporters), member 7 LOC389263 5 hypothetical gene supported by AK096096 LOC340024 5p15.33 hypothetical protein LOC340024 FLJ31236 5p15.33 hypothetical protein FLJ31236 TERT 5p15.33 telomerase reverse transcriptase CRR9 5pter-p15.3 cisplatin resistance related protein CRR9p SLC6A3 5p15.3 solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 FLJ12443 5p15.33 hypothetical protein FLJ12443 LOC389264 5 LOC389264 LOC340026 5p15.33 similar to succinate dehydrogenase flavoprotein subunit LOC389265 5 hypothetical gene supported by NM_174907 LOC389266 5 LOC389266 MRPL36 5p15.3 mitochondrial ribosomal protein L36 NDUFS6 5pter-p15.33 NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase) LOC389267 5 similar to antifreeze glycoprotein precursor - black rockcod IRX4 5p15.3 iroquois homeobox protein 4
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    24 - 5316 - 1083 - Fujii (2009)
    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
    Urinarykidney   highly
    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)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS active transport
    text potassium/chloride-cotransporter
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    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)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    Kcc4 -/- mice (Boettger,2002)