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Aliases for NIPA2 Gene

Aliases for NIPA2 Gene

  • Non Imprinted In Prader-Willi/Angelman Syndrome 2 2 3 5
  • Non-Imprinted In Prader-Willi/Angelman Syndrome Region Protein 2 4

External Ids for NIPA2 Gene

Previous GeneCards Identifiers for NIPA2 Gene

  • GC15M020423
  • GC15M020553
  • GC15M020556
  • GC15M023004
  • GC15M001317

Summaries for NIPA2 Gene

Entrez Gene Summary for NIPA2 Gene

  • This gene encodes a possible magnesium transporter. This gene is located adjacent to the imprinted domain in the Prader-Willi syndrome deletion region of chromosome 15. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 3, 7 and 21.[provided by RefSeq, May 2010]

GeneCards Summary for NIPA2 Gene

NIPA2 (Non Imprinted In Prader-Willi/Angelman Syndrome 2) is a Protein Coding gene. Diseases associated with NIPA2 include Angelman Syndrome and Prader-Willi Syndrome. Among its related pathways are Miscellaneous transport and binding events and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include magnesium ion transmembrane transporter activity. An important paralog of this gene is NIPAL3.

UniProtKB/Swiss-Prot for NIPA2 Gene

  • Acts as a selective Mg(2+) transporter.

Gene Wiki entry for NIPA2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NIPA2 Gene

Genomics for NIPA2 Gene

Regulatory Elements for NIPA2 Gene

Enhancers for NIPA2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around NIPA2 on UCSC Golden Path with GeneCards custom track

Promoters for NIPA2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NIPA2 on UCSC Golden Path with GeneCards custom track

Genomic Location for NIPA2 Gene

22,838,641 bp from pter
22,868,384 bp from pter
29,744 bases
Plus strand

Genomic View for NIPA2 Gene

Genes around NIPA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NIPA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NIPA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NIPA2 Gene

Proteins for NIPA2 Gene

  • Protein details for NIPA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Magnesium transporter NIPA2
    Protein Accession:
    Secondary Accessions:
    • F8W7Y8
    • Q96F03
    • Q9BVS2

    Protein attributes for NIPA2 Gene

    360 amino acids
    Molecular mass:
    39185 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for NIPA2 Gene


neXtProt entry for NIPA2 Gene

Proteomics data for NIPA2 Gene at MOPED

Post-translational modifications for NIPA2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for NIPA2 Gene

Domains & Families for NIPA2 Gene

Protein Domains for NIPA2 Gene


Suggested Antigen Peptide Sequences for NIPA2 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the NIPA family.
  • Belongs to the NIPA family.
genes like me logo Genes that share domains with NIPA2: view

No data available for Gene Families for NIPA2 Gene

Function for NIPA2 Gene

Molecular function for NIPA2 Gene

UniProtKB/Swiss-Prot Function:
Acts as a selective Mg(2+) transporter.
genes like me logo Genes that share phenotypes with NIPA2: view

Animal Model Products

  • Taconic Biosciences Mouse Models for NIPA2

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NIPA2 Gene

Localization for NIPA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NIPA2 Gene

Cell membrane; Multi-pass membrane protein. Early endosome. Note=Recruited to the cell membrane in response to low extracellular magnesium. {ECO:0000250}.

Subcellular locations from

Jensen Localization Image for NIPA2 Gene COMPARTMENTS Subcellular localization image for NIPA2 gene
Compartment Confidence
plasma membrane 5
endosome 3
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for NIPA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005769 early endosome IEA --
genes like me logo Genes that share ontologies with NIPA2: view

Pathways & Interactions for NIPA2 Gene

genes like me logo Genes that share pathways with NIPA2: view

Pathways by source for NIPA2 Gene

Interacting Proteins for NIPA2 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
Selected Interacting proteins: ENSP00000337618 Q8N8Q9-NIPA2_HUMAN for NIPA2 Gene via STRING I2D

Gene Ontology (GO) - Biological Process for NIPA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015693 magnesium ion transport IEA --
genes like me logo Genes that share ontologies with NIPA2: view

No data available for SIGNOR curated interactions for NIPA2 Gene

Drugs & Compounds for NIPA2 Gene

No Compound Related Data Available

Transcripts for NIPA2 Gene

Unigene Clusters for NIPA2 Gene

Non imprinted in Prader-Willi/Angelman syndrome 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NIPA2 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b · 10c · 10d · 10e ^ 11 ^ 12 ^ 13 ^ 14a ·
SP1: - - - - - -
SP2: - - - - - - -
SP3: - - - - - - - - - - -
SP4: - - -
SP5: - - - - - -
SP6: - - - - - -
SP8: -
SP10: - - - - - - - - - - - - -
SP11: - - - - - - - - - - -
SP12: - - - - - - -
SP13: - - - - - -
SP14: - - - -
SP16: - - - - - - - - - - - -
SP17: - - - - - - - - - -
SP18: - -

ExUns: 14b ^ 15 ^ 16a · 16b

Relevant External Links for NIPA2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for NIPA2 Gene

mRNA expression in normal human tissues for NIPA2 Gene

Protein differential expression in normal tissues from HIPED for NIPA2 Gene

This gene is overexpressed in Blymphocyte (53.3) and Placenta (15.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for NIPA2 Gene

SOURCE GeneReport for Unigene cluster for NIPA2 Gene Hs.591003

mRNA Expression by UniProt/SwissProt for NIPA2 Gene

Tissue specificity: Widely expressed.
genes like me logo Genes that share expression patterns with NIPA2: view

Protein tissue co-expression partners for NIPA2 Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for NIPA2 Gene

Orthologs for NIPA2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NIPA2 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia NIPA2 35
  • 92.04 (n)
  • 96.11 (a)
NIPA2 36
  • 96 (a)
(Canis familiaris)
Mammalia NIPA2 35
  • 93.43 (n)
  • 97.78 (a)
NIPA2 36
  • 98 (a)
(Mus musculus)
Mammalia Nipa2 35
  • 90.71 (n)
  • 95.82 (a)
Nipa2 16
Nipa2 36
  • 96 (a)
(Pan troglodytes)
Mammalia NIPA2 35
  • 99.39 (n)
  • 99.09 (a)
NIPA2 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Nipa2 35
  • 90.62 (n)
  • 96.1 (a)
(Monodelphis domestica)
Mammalia NIPA2 36
  • 92 (a)
(Ornithorhynchus anatinus)
Mammalia NIPA2 36
  • 85 (a)
(Gallus gallus)
Aves NIPA2 35
  • 79.63 (n)
  • 85.83 (a)
NIPA2 36
  • 85 (a)
(Anolis carolinensis)
Reptilia NIPA2 36
  • 85 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia nipa2 35
  • 74.91 (n)
  • 84.72 (a)
Str.7576 35
African clawed frog
(Xenopus laevis)
Amphibia LOC398554 35
(Danio rerio)
Actinopterygii nipa2 35
  • 71.29 (n)
  • 83.29 (a)
wufb72g02 35
nipa2 36
  • 80 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009838 35
  • 55.38 (n)
  • 55.59 (a)
fruit fly
(Drosophila melanogaster)
Insecta spict 35
  • 54.64 (n)
  • 51.61 (a)
spict 36
  • 45 (a)
(Caenorhabditis elegans)
Secernentea nipa-1 35
  • 57.72 (n)
  • 59.06 (a)
nipa-1 36
  • 45 (a)
(Glycine max)
eudicotyledons Gma.1991 35
(Oryza sativa)
Liliopsida Os05g0513400 35
  • 55.82 (n)
  • 49.48 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU04457 35
  • 47.71 (n)
  • 41.53 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 60 (a)
Species with no ortholog for NIPA2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NIPA2 Gene

Gene Tree for NIPA2 (if available)
Gene Tree for NIPA2 (if available)

Paralogs for NIPA2 Gene

Paralogs for NIPA2 Gene

(5) SIMAP similar genes for NIPA2 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with NIPA2: view

Variants for NIPA2 Gene

Sequence variations from dbSNP and Humsavar for NIPA2 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs3693 -- 22,868,175(-) TAATA(A/C)AGTTG utr-variant-3-prime
rs3695 -- 22,868,166(-) TGGAA(A/G)AAAGG utr-variant-3-prime
rs3785 -- 22,867,866(-) CCATC(A/G)ACTTC utr-variant-3-prime
rs3786 -- 22,867,687(-) CTAAA(C/T)TTAAG utr-variant-3-prime
rs15484 -- 22,867,227(-) AAAAA(A/C/G)CCTTA utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for NIPA2 Gene

Variant ID Type Subtype PubMed ID
dgv44n16 CNV Insertion 17901297
esv2751489 CNV Gain 17911159
esv34233 CNV Loss 17911159
essv13315 CNV CNV 17122850
nsv437797 CNV Loss 16327808
nsv511042 OTHER Inversion 20534489
nsv433429 CNV Gain 18776910
nsv903495 CNV Gain 21882294
esv2474417 CNV Loss 19546169
nsv442359 CNV CNV 18776908
dgv696e1 CNV Complex 17122850
dgv2234n71 CNV Loss 21882294
dgv2235n71 CNV Gain 21882294
dgv2236n71 CNV Gain+Loss 21882294
nsv433290 CNV Loss 18776910
dgv2239n71 CNV Gain 21882294
nsv456612 CNV Loss 19166990
dgv287n27 CNV Gain 19166990
nsv471225 CNV Gain 18288195
nsv471226 CNV Loss 18288195
esv34463 CNV Gain 17911159
dgv2242n71 CNV Gain 21882294
essv13814 CNV CNV 17122850
nsv456636 CNV Loss 19166990
nsv469615 CNV Complex 16826518
dgv2243n71 CNV Gain 21882294
dgv2244n71 CNV Loss 21882294
nsv832926 CNV Gain+Loss 17160897
nsv903559 CNV Gain+Loss 21882294
nsv903560 CNV Loss 21882294
dgv2246n71 CNV Gain 21882294
dgv2247n71 CNV Gain 21882294
essv19361 CNV CNV 17122850
dgv697e1 CNV Complex 17122850
nsv469667 CNV Loss 16826518
dgv9n31 CNV Deletion 19718026
essv18519 CNV CNV 17122850
nsv471377 CNV Deletion 19718026
esv2665115 CNV Deletion 23128226

Variation tolerance for NIPA2 Gene

Residual Variation Intolerance Score: 28.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.01; 37.02% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NIPA2 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NIPA2 Gene

Disorders for NIPA2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for NIPA2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
angelman syndrome
  • as
prader-willi syndrome
  • prader willi syndrome
childhood absence epilepsy
  • absence seizure
autosomal recessive congenital ichthyosis
  • autosomal recessive lamellar ichthyosis
childhood electroclinical syndrome
- elite association - COSMIC cancer census association via MalaCards
Search NIPA2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for NIPA2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with NIPA2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NIPA2 Gene

Publications for NIPA2 Gene

  1. Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons. (PMID: 14508708) Chai J.-H. … Nicholls R.D. (Am. J. Hum. Genet. 2003) 2 3 4 67
  2. Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances. (PMID: 19328872) Doornbos M. … van Ravenswaaij-Arts C.M. (Eur J Med Genet 2009) 3 23
  3. Functional Study of NIPA2 Mutations Identified from the Patients with Childhood Absence Epilepsy. (PMID: 25347071) Xie H. … Jiang Y. (PLoS ONE 2014) 3
  4. NIPA2 located in 15q11.2 is mutated in patients with childhood absence epilepsy. (PMID: 22367439) Jiang Y. … Wu X. (Hum. Genet. 2012) 3
  5. Molecular identification of ancient and modern mammalian magnesium transporters. (PMID: 19940067) Quamme G.A. (Am. J. Physiol., Cell Physiol. 2010) 3

Products for NIPA2 Gene

Sources for NIPA2 Gene