Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol NIPA2 contributors: mct - updated : 16-10-2012
HGNC name non-imprinted in Prader-Willi/Angelman syndrome 2
HGNC id 17044
DNA
TYPE functioning gene
STRUCTURE 29.74 kb     7 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
8 - 3252 39 360 - 2006 16982806
7 - 2466 - 360 - 2006 16982806
6 - 2994 - 360 - 2006 16982806
5 - 2937 - 341 - 2006 16982806
10 - 3477 - 360 - 2006 16982806
6 - 3085 - 341 - 2006 16982806
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