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FLASH GENE
Symbol SLC24A4 contributors: mct/npt/pgu - updated : 16-03-2013
HGNC name solute carrier family 24 (sodium/potassium/calcium exchanger), member 4
HGNC id 10978
Location 14q32.12      Physical location : 92.788.924 - 92.967.823
Synonym name
  • Na(+)/K(+)/Ca(2+)-exchange protein 4
  • solute carrier family 24 member 4
  • Synonym symbol(s) FLJ38852, NCKX4, SLC24A2, SHEP6
    DNA
    TYPE functioning gene
    STRUCTURE 178.90 kb     17 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    C14orf159 14q32.12 chromosome 14 open reading frame 159 GPR68 14q31 G protein-coupled receptor 68 KIAA1509 14q32.12 KIAA1509 LOC388005 14 similar to RIKEN cDNA 0610010D24 KIAA2010 14q32.12 KIAA2010 C14orf161 14q32.12 chromosome 14 open reading frame 161 MTAC2D1 14q32.12 membrane targeting (tandem) C2 domain containing 1 FBLN5 14q32.1 fibulin 5 TRIP11 14q31-q32 thyroid hormone receptor interactor 11 PTMAP7 14 prothymosin, alpha pseudogene 7 MJD 14q24.4-q32.1 Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3) NDUFB1 14q31.3 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1, 7kDa CPSF2 14q31.3 cleavage and polyadenylation specific factor 2, 100kDa SLC24A4 14q32.12-q32.13 solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 RIN3 14q32.13 Ras and Rab interactor 3 LGMN 14q32.1 legumain GOLGA5 14q24.3-q31.3 golgi autoantigen, golgin subfamily a, 5 CHGA 14q32 chromogranin A (parathyroid secretory protein 1) ITPK1 14q31 inositol 1,3,4-triphosphate 5/6 kinase CYB5P3 14q31-q32.1 cytochrome b-5 pseudogene 3 MOAP1 14q32 modulator of apoptosis 1 C14orf109 14q32.13 chromosome 14 open reading frame 109 C14orf142 14q32.13 chromosome 14 open reading frame 142 C14orf130 14q32.13 chromosome 14 open reading frame 130 RPL18AP1 14 ribosomal protein L18a pseudogene 1 RPL36AP4 14 ribosomal protein L36a pseudogene 4 COX8-3 14q32.13 cytochrome c oxidase subunit VIII isoform 3
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    17 - 4485 - 605 - 2002 12379639
    17 - 4428 - 586 - 2002 12379639
    17 - 4437 - 558 - 2002 12379639
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularvesselsaorta   
    Digestivemouthtoothenamel highly Homo sapiensFetal
    Nervousbrain   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularsmoothvessel  
    Muscularstriatumcardiac  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Cardiovascularendothelial cell
    Digestiveameloblast Homo sapiensFetal
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two large hydrophilic loops and two sets of transmembrane spanning segments (TMs)
  • the first large hydrophilic loop is located extracellularly at the N-terminus
  • the other is cytoplasmic and separates the two sets of TMs
  • HOMOLOGY
    Homologene
    FAMILY
  • sodium/potassium/calcium exchanger family
  • SLC24A subfamily
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • calcium extrusion protein, K dependent (Na+) (Ca2+) exchanger regulating intracellular Ca2+ concentration
  • polytopic membrane protein that plays a critical role in Ca(2+) homeostasis in retinal rod and cone photoreceptors
  • playing a role in mediating agonist-stimulated [Ca2+]cyt and thereby vascular tone
  • probably play a particularly prominent role in regulating Ca2+ flux in environments which experience wide and frequent fluctuations in Na+ concentration
  • IRF4 and SLC24A4 loci are associated with human hair color and skin pigmentation
  • potassium-dependent Na(+)/Ca(2+) exchanger, necessary for rapid response termination and proper adaptation of vertebrate olfactory sensory neurons
  • role in shaping olfactory responses, suggesting that rapid response termination and proper adaptation of peripheral sensory receptor cells tune the sensory system for optimal perception
  • a key role for SLC24A4 in calcium transport during enamel formation
  • essential role for Ca(2+) signaling in the MC4R pathway that leads to satiety, and a non-redundant role for NCKX4-mediated Ca(2+) extrusionrusion in controlling MC4R signaling and feeding behavior
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interaction between HERC2 and SLC24A4 affecting determination of blue eye colour
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism SNP associated to eye and hair color
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • olfactory-specific Nckx4(-/-) mice had lower body weights and a reduced ability to locate an odorous source
  • Slc24a4 null mice identified a severe defect in tooth enamel that reflects impaired amelogenesis