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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
Location 15q11.2      Physical location : 23.004.683 - 23.034.427
Synonym symbol(s) MGC5466
DNA
TYPE functioning gene
STRUCTURE 29.74 kb     7 Exon(s)
MAPPING cloned Y linked N status provisional
Physical map
LOC388071 15 hypothetical gene supported by AL834140; NM_001338 LOC339010 15q11.2 similar to pote protein; Expressed in prostate, ovary, testis, and placenta LOC283804 15q11.2 similar to testicular Metalloprotease-like, Disintegrin-like, Cysteine-rich protein IVb LOC388072 15 similar to breast cancer anti-estrogen resistance 1; Crk-associated substrate p130Cas; Crk-associated substrate LOC388073 15 hypothetical gene supported by AK056084; NM_152518 LOC388074 15 similar to Ribosome biogenesis protein BMS1 homolog LOC388075 15 similar to Ribosome biogenesis protein BMS1 homolog OR4H6P 15p12 olfactory receptor, family 4, subfamily H, member 6 pseudogene LOC390538 15 similar to Olfactory receptor 4M2 LOC390539 15 similar to seven transmembrane helix receptor LOC388076 15 similar to 40S ribosomal protein S8 LOC388077 15 similar to immunoglobulin heavy chain variable region LOC390540 15 similar to salivary proline-rich protein LOC388078 15 similar to FLJ27099 protein LOC388079 15 similar to ZCCHC2 protein LOC390541 15 similar to arginine-glutamic acid dipeptide (RE) repeats; atrophin 1-like; arginine glutamic acid dipeptide RE repeats LOC390542 15 similar to CDNA sequence BC005632 LOC390543 15 similar to ATP-binding cassette, sub-family B, member 10, mitochondrial precursor (ATP-binding cassette transporter 10) (ABC transporter 10 protein) (Mitochondrial ATP-binding cassette 2) (M-ABC2) LOC388080 15 similar to hypothetical protein LOC283767 15q11.2 hypothetical gene supported by AK093450 LOC390544 15 similar to engulfment and cell motility 2; ced-12 homolog 2; PH domain protein CED12A TUBGCP5 15q11.1 tubulin, gamma complex associated protein 5 CYFIP1 15q11 cytoplasmic FMR1 interacting protein 1 NIPA2 15q11.2 non-imprinted in Prader-Willi/Angelman syndrome 2 SPG6 15q11-q13 spastic paraplegia 6 (autosomal dominant) LOC339003 15q11.2 similar to HP95 LOC388081 15 LOC388081 LOC339005 15q11.2 hypothetical protein LOC339005 FLJ35785 15q11.2 hypothetical protein FLJ35785 LOC388082 15 hypothetical gene supported by AB002391 LOC390545 15 similar to hypothetical protein FLJ36144 LOC390546 15 similar to golgin-67 isoform c LOC388083 15 similar to hypothetical protein FLJ31951 LOC390547 15 similar to neuronal nonacetlycholine binding subunit LOC390548 15 similar to hypothetical protein FLJ36144 LOC388084 15 similar to FLJ40113 protein LOC388085 15 similar to Golgi autoantigen, golgin subfamily a, 2; golgin-95; Golgi matrix protein GM130; SY11 protein LOC390549 15 similar to hect domain and RLD 2 FLJ36144 15q11.2 hypothetical protein FLJ36144 MKRN3 15q11-q12 makorin, ring finger protein, 3 MAGEL2 15q11.2-q12 MAGE-like 2 NDN 15q11.2-q12 necdin homolog (mouse)
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