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FLASH GENE
Symbol NIPA2 contributors: mct - updated : 16-10-2012
HGNC name non-imprinted in Prader-Willi/Angelman syndrome 2
HGNC id 17044
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver    
Nervousbrain    
Respiratorylung    
Urinarykidney    
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period pregnancy
Text placenta
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
nine transmembrane domains
HOMOLOGY
interspecies ortholog to murine Nipa2
Homologene
FAMILY NIPA family
CATEGORY transport carrier
SUBCELLULAR LOCALIZATION     plasma membrane
    intracellular
intracellular,cytoplasm,organelle,endosome
basic FUNCTION
  • plays a role in magnesium metabolism and regulation of renal magnesium conservation
  • selective magnesium transporter
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    in WPS/AS syndrome
    constitutional   deletion    
    in congenital heart disease
    Susceptibility to childhood absence epilepsy
    Variant & Polymorphism . microdeletions are important pathogenic CNVs for childhood absence epilepsy
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS