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Aliases for NIPA2 Gene

Aliases for NIPA2 Gene

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

External Ids for NIPA2 Gene

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 microdeletion 15q11.2 and prader-willi syndrome. 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

Genomic Location for NIPA2 Gene

Start:
22,838,641 bp from pter
End:
22,868,384 bp from pter
Size:
29,744 bases
Orientation:
Plus strand

Genomic View for NIPA2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NIPA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NIPA2 Gene

Regulatory Elements for NIPA2 Gene

Proteins for NIPA2 Gene

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

    Protein Symbol:
    Q8N8Q9-NIPA2_HUMAN
    Recommended name:
    Magnesium transporter NIPA2
    Protein Accession:
    Q8N8Q9
    Secondary Accessions:
    • F8W7Y8
    • Q96F03
    • Q9BVS2

    Protein attributes for NIPA2 Gene

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

    Alternative splice isoforms for NIPA2 Gene

    UniProtKB/Swiss-Prot:

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 for NIPA2 Gene

Protein Domains for NIPA2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NIPA2 Gene

Graphical View of Domain Structure for InterPro Entry

Q8N8Q9

UniProtKB/Swiss-Prot:

NIPA2_HUMAN
Family:
  • Belongs to the NIPA family.:
    • Q8N8Q9
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.

Gene Ontology (GO) - Molecular Function for NIPA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
GO:0015095 magnesium ion transmembrane transporter activity IEA --
genes like me logo Genes that share ontologies with NIPA2: view

miRNA for NIPA2 Gene

miRTarBase miRNAs that target NIPA2

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting 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

COMPARTMENTS
Jensen Localization Image for NIPA2 Gene COMPARTMENTS Subcellular localization image for NIPA2 gene
Compartment Confidence
plasma membrane 5
endosome 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for NIPA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005769 early endosome IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with NIPA2: view

Pathways for NIPA2 Gene

SuperPathways for NIPA2 Gene

No Data Available

Interacting Proteins for NIPA2 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000337618%0d%0a9606.ENSP00000344818%0d%0a
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 Pathways by source for NIPA2 Gene

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: - - - - - -
SP7:
SP8: -
SP9:
SP10: - - - - - - - - - - - - -
SP11: - - - - - - - - - - -
SP12: - - - - - - -
SP13: - - - - - -
SP14: - - - -
SP15:
SP16: - - - - - - - - - - - -
SP17: - - - - - - - - - -
SP18: - -

ExUns: 14b ^ 15 ^ 16a · 16b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:

Relevant External Links for NIPA2 Gene

GeneLoc Exon Structure for
NIPA2
ECgene alternative splicing isoforms for
NIPA2

Expression for NIPA2 Gene

mRNA expression in normal human tissues for NIPA2 Gene

Integrated Proteomics: protein expression 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

Q8N8Q9-NIPA2_HUMAN
Tissue specificity: Widely expressed.
genes like me logo Genes that share expressions with NIPA2: view

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
chimpanzee
(Pan troglodytes)
Mammalia NIPA2 35
  • 99.39 (n)
  • 99.09 (a)
NIPA2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NIPA2 35
  • 92.04 (n)
  • 96.11 (a)
NIPA2 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NIPA2 35
  • 93.43 (n)
  • 97.78 (a)
NIPA2 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nipa2 35
  • 90.71 (n)
  • 95.82 (a)
Nipa2 16
Nipa2 36
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NIPA2 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NIPA2 36
  • 85 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nipa2 35
  • 90.62 (n)
  • 96.1 (a)
chicken
(Gallus gallus)
Aves NIPA2 35
  • 79.63 (n)
  • 85.83 (a)
NIPA2 36
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NIPA2 36
  • 85 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia LOC398554 35
tropical clawed frog
(Silurana tropicalis)
Amphibia nipa2 35
  • 74.91 (n)
  • 84.72 (a)
Str.7576 35
zebrafish
(Danio rerio)
Actinopterygii nipa2 35
  • 71.29 (n)
  • 83.29 (a)
nipa2 36
  • 80 (a)
OneToOne
wufb72g02 35
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)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea nipa-1 35
  • 57.72 (n)
  • 59.06 (a)
nipa-1 36
  • 45 (a)
OneToMany
soybean
(Glycine max)
eudicotyledons Gma.1991 35
rice
(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)
OneToMany
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

ENSEMBL:
Gene Tree for NIPA2 (if available)
TreeFam:
Gene Tree for NIPA2 (if available)

Paralogs for NIPA2 Gene

Paralogs for NIPA2 Gene

Selected 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 MAF
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/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

Relevant External Links for NIPA2 Gene

HapMap Linkage Disequilibrium report
NIPA2
Human Gene Mutation Database (HGMD)
NIPA2

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

Disorders for NIPA2 Gene

(2) University of Copenhagen DISEASES for NIPA2 Gene

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

No data available for UniProtKB/Swiss-Prot 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
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. 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
  5. A "double adaptor" method for improved shotgun library construction. (PMID: 8619474) Andersson B. … Gibbs R.A. (Anal. Biochem. 1996) 3

Products for NIPA2 Gene

Sources for NIPA2 Gene

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