Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



NIPA2 Gene

protein-coding   GIFtS: 50
GCID: GC15M023004

Non Imprinted In Prader-Willi/Angelman Syndrome 2

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
Non Imprinted In Prader-Willi/Angelman Syndrome 21 2
Non-Imprinted In Prader-Willi/Angelman Syndrome Region Protein 22 3
Magnesium Transporter NIPA22

External Ids:    HGNC: 170441   Entrez Gene: 816142   Ensembl: ENSG000001401577   OMIM: 6081465   UniProtKB: Q8N8Q93   

Export aliases for NIPA2 gene to outside databases

Previous GC identifers: GC15M020423 GC15M020553 GC15M020556 GC15M001317


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

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 NIPA1.

UniProtKB/Swiss-Prot: NIPA2_HUMAN, Q8N8Q9
Function: Acts as a selective Mg(2+) transporter (By similarity)

Gene Wiki entry for NIPA2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000015.10  NT_078094.3  NC_018926.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the NIPA2 gene promoter:
         Olf-1   Pax-2   Pax-2a   NF-AT   NF-AT4   NF-AT2   Pax-2b   NF-AT3   Msx-1   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNIPA2 promoter sequence
   Search Chromatin IP Primers for NIPA2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NIPA2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q11.2   Ensembl cytogenetic band:  15q11.2   HGNC cytogenetic band: 15q11.2

NIPA2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NIPA2 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M023004:  view genomic region     (about GC identifiers)

Start:
23,004,684 bp from pter      End:
23,034,427 bp from pter
Size:
29,744 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: NIPA2_HUMAN, Q8N8Q9 (See protein sequence)
Recommended Name: Magnesium transporter NIPA2  
Size: 360 amino acids; 39185 Da
Secondary accessions: F8W7Y8 Q96F03 Q9BVS2
Alternative splicing: 2 isoforms:  Q8N8Q9-1   Q8N8Q9-2   (Not experimental evidence available)

Explore the universe of human proteins at neXtProt for NIPA2: NX_Q8N8Q9

Explore proteomics data for NIPA2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See NIPA2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (6 alternative transcripts): 
    NP_001008860.1  NP_001008892.1  NP_001008894.1  NP_001171817.1  NP_001171818.1  NP_112184.4  

    ENSEMBL proteins: 
     ENSP00000337618   ENSP00000381095   ENSP00000437746   ENSP00000352762   ENSP00000453700  
     ENSP00000381096  

    NIPA2 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for NIPA2
    OriGene Custom MassSpec
    OriGene Custom Protein Services for NIPA2
    GenScript Custom Purified and Recombinant Proteins Services for NIPA2
    Novus Biologicals NIPA2 Protein
    Novus Biologicals NIPA2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for NIPA2

    NIPA2 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for NIPA2
    Novus Biologicals NIPA2 Antibody
    Abcam antibodies for NIPA2
    Cloud-Clone Corp. Antibodies for NIPA2
    ThermoFisher Antibodies for NIPA2
    LSBio Antibodies in human, mouse, rat for NIPA2

    NIPA2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for NIPA2
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for NIPA2
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for NIPA2
    Cloud-Clone Corp. CLIAs for NIPA2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    1 InterPro protein domain:
     IPR008521 Mg_trans_NIPA

    Graphical View of Domain Structure for InterPro Entry Q8N8Q9

    ProtoNet protein and cluster: Q8N8Q9

    UniProtKB/Swiss-Prot: NIPA2_HUMAN, Q8N8Q9
    Similarity: Belongs to the NIPA family


    NIPA2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NIPA2_HUMAN, Q8N8Q9
    Function: Acts as a selective Mg(2+) transporter (By similarity)

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0015095magnesium ion transmembrane transporter activity IEA--
         
    NIPA2 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI phenotypic allele for Nipa2 (no phenotypes)

    NIPA2 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NIPA2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for NIPA2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NIPA2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NIPA2

    miRNA
    Products:
        
    miRTarBase miRNAs that target NIPA2:
    hsa-mir-769-3p (MIRT039066), hsa-mir-3615 (MIRT052855), hsa-mir-92b-3p (MIRT040535)

    Block miRNA regulation of human, mouse, rat NIPA2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NIPA2 (see all 43):
    hsa-miR-548j hsa-miR-3653 hsa-miR-301a hsa-miR-578 hsa-miR-3658 hsa-miR-133a hsa-miR-548d-5p hsa-miR-548a-5p
    SwitchGear 3'UTR luciferase reporter plasmidNIPA2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for NIPA2
    Predesigned siRNA for gene silencing in human, mouse, rat NIPA2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for NIPA2

    Clone
    Products:
         
    OriGene clones in human, mouse for NIPA2 (see all 31)
    OriGene ORF clones in mouse, rat for NIPA2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 6): NIPA2 (NM_001008894)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NIPA2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NIPA2

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for NIPA2
    Browse ESI BIO Cell Lines and PureStem Progenitors for NIPA2 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NIPA2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    NIPA2_HUMAN, Q8N8Q9: Cell membrane; Multi-pass membrane protein (Potential). Early endosome (By similarity).
    Note=Recruited to the cell membrane in response to low extracellular magnesium (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    endosome2
    endoplasmic reticulum1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005769early endosome IEA--
    GO:0005886plasma membrane IEA--
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--

    NIPA2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NIPA2
    Interactions:

        Search GeneGlobe Interaction Network for NIPA2

    1 Interacting protein for NIPA2 (Q8N8Q93) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    C10orf35Q96D053I2D: score=2 
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015693magnesium ion transport ----

    NIPA2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for NIPA2



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for NIPA2 gene (6 alternative transcripts): 
    NM_001008860.2  NM_001008892.2  NM_001008894.2  NM_001184888.1  NM_001184889.1  NM_030922.6  

    Unigene Cluster for NIPA2:

    Non imprinted in Prader-Willi/Angelman syndrome 2
    Hs.591003  [show with all ESTs]
    Unigene Representative Sequence: NM_001184889
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000337451(uc001yvb.3 uc001yux.3 uc010ayb.3) ENST00000398013
    ENST00000539711 ENST00000359727 ENST00000560039 ENST00000561072 ENST00000559571
    ENST00000560205 ENST00000560762 ENST00000398014(uc001yuy.3 uc001yuz.3 uc001yva.3)

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat NIPA2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NIPA2 (see all 43):
    hsa-miR-548j hsa-miR-3653 hsa-miR-301a hsa-miR-578 hsa-miR-3658 hsa-miR-133a hsa-miR-548d-5p hsa-miR-548a-5p
    SwitchGear 3'UTR luciferase reporter plasmidNIPA2 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for NIPA2
    Predesigned siRNA for gene silencing in human, mouse, rat NIPA2
    Clone
    Products:
         
    OriGene clones in human, mouse for NIPA2 (see all 31)
    OriGene ORF clones in mouse, rat for NIPA2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 6): NIPA2 (NM_001008894)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NIPA2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NIPA2
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for NIPA2
    OriGene qSTAR qPCR primer pairs in human, mouse for NIPA2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NIPA2
      QuantiTect SYBR Green Assays in human, mouse, rat NIPA2
      QuantiFast Probe-based Assays in human, mouse, rat NIPA2

    Additional mRNA sequence: 

    AK096305.1 AK300843.1 AK313584.1 AY732242.1 BC000957.3 BC011775.2 U90904.1 

    Selected DOTS entries (see all 27):

    DT.451960  DT.99970876  DT.91865366  DT.121069748  DT.121069777  DT.101959366  DT.121069758  DT.75115206 
    DT.101974439  DT.121069762  DT.121069741  DT.100817146  DT.95121919  DT.102835933  DT.121069903  DT.91760312 
    DT.95121920  DT.100817144  DT.121069819  DT.65285070  DT.97847717  DT.97847720  DT.99938078  DT.100817142 

    Selected AceView cDNA sequences (see all 348):

    U90904 AY732242 Z39245 AI962854 AI434382 BG390107 BU621473 AW770149 
    BE669926 AI922763 AW451958 AI613524 BM561330 AA884012 BE869856 BU542017 
    CR625512 AA922944 AA453066 BM850398 BE784608 BI908457 NM_030922 BM679952 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for NIPA2 (see all 18)    About this scheme

    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:                                                  -     -     -           -     -     -                                                                     

    ExUns: 14b ^ 15 ^ 16a · 16b
    SP1:                        
    SP2:                        
    SP3:                        
    SP4:                        
    SP5:                        


    ECgene alternative splicing isoforms for NIPA2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    NIPA2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTATAATAAA
    NIPA2 Expression
    About this image

    NIPA2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NIPA2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.591003

    UniProtKB/Swiss-Prot: NIPA2_HUMAN, Q8N8Q9
    Tissue specificity: Widely expressed

        Custom PCR Arrays for NIPA2
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for NIPA2
    OriGene qSTAR qPCR primer pairs in human, mouse for NIPA2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NIPA2
    QuantiTect SYBR Green Assays in human, mouse, rat NIPA2
    QuantiFast Probe-based Assays in human, mouse, rat NIPA2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NIPA2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    TryGeneCards Plus

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for NIPA2 gene from Selected species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nipa21 , 5 non imprinted in Prader-Willi/Angelman syndrome 2 homolog more1, 5 90.71(n)1
    95.82(a)1
      7 (33.42 cM)5
    937901  NM_023647.61  NP_076136.21 
     559312875 
    chicken
    (Gallus gallus)
    Aves NIPA21 non imprinted in Prader-Willi/Angelman syndrome 2 79.63(n)
    85.83(a)
      418680  NM_001030809.1  NP_001025980.1 
    lizard
    (Anolis carolinensis)
    Reptilia NIPA26
    non imprinted in Prader-Willi/Angelman syndrome 2
    85(a)
    1 ↔ 1
    3(111742434-111756410)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3985542 hypothetical protein LOC398554 76.62(n)    BC046721.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb72g022 Danio rerio cDNA clone MGC66088 IMAGE6797300, complete more 74.25(n)    BC062386.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta spict1 spichthyin 54.64(n)
    51.61(a)
      34681  NM_135742.4  NP_609586.1 
    worm
    (Caenorhabditis elegans)
    Secernentea nipa-11 nipa-1 57.72(n)
    59.06(a)
      175418  NM_001129261.1  NP_001122733.1 
    soybean
    (Glycine max)
    eudicotyledons Gma.19912 Transcribed sequence with weak similarity to protein more 74.98(n)  
    rice
    (Oryza sativa)
    Liliopsida AK069309.12   -- 73.92(n)    AK069309.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for NIPA2 gene
    NIPA12  NIPAL32  NIPAL12  NIPAL22  NIPAL42  
    5 SIMAP similar genes for NIPA2 using alignment to 3 protein entries:     NIPA2_HUMAN (see all proteins):
    NIPAL1    NIPAL4    NIPA1    NIPAL2    NPAL2

    NIPA2 for paralogs           About GeneDecksing


    5 Pseudogenes.org Pseudogenes for NIPA2
    PGOHUM00000248644 PGOHUM00000239151 PGOHUM00000238069 PGOHUM00000232915 PGOHUM00000249407


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for NIPA2 (see all 877)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1448341311,2
    --1348104(+) ATGCAC/TTTTTT 6 -- us2k10--------
    rs1908466351,2
    --1348194(+) CCCCTC/GACCAC 6 -- us2k10--------
    rs71770351,2
    C,F,H--1348196(+) CCTGAC/TCACTC 6 -- us2k18Minor allele frequency- T:0.01NS EA NA WA 532
    rs1509457151,2
    --1348243(+) TAAAGC/GTTTTA 6 -- us2k10--------
    rs797060471,2
    F--1348258(+) GCCGTG/AAGCCT 6 -- us2k11Minor allele frequency- A:0.01EA 120
    rs1826495451,2
    --1348306(+) TTGCAA/TCTCAG 6 -- us2k10--------
    rs1851075371,2
    --2998547(+) ACCAAC/TTTTAA 6 -- ds50010--------
    rs1169852531,2
    C,F--2998606(+) TTTCCG/AGAGGC 6 -- ds50011Minor allele frequency- A:0.03NA 120
    rs1879854301,2
    --2998633(+) GAAGCA/GTATGA 6 -- ds50010--------
    rs284493731,2
    C,F--2998644(+) TGCACG/AGCACA 6 -- ds50017Minor allele frequency- A:0.28NA CSA WA EA 366

    HapMap Linkage Disequilibrium report for NIPA2 (23004684 - 23034427 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for NIPA2 (see all 39):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv471377CNV Deletion19718026
    dgv9n31CNV Deletion19718026
    esv2665115CNV Deletion23128226
    dgv44n16CNV Insertion17901297
    nsv471226CNV Loss18288195
    nsv437797CNV Loss16327808
    esv34233CNV Loss17911159
    nsv456636CNV Loss19166990
    nsv903560CNV Loss21882294
    dgv2234n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): NIPA2
    Site Specific Mutation Identification with PCR Assays
    1 Copy Number PCR Panel containing NIPA2:
    Intellectual Disability
    SeqTarget long-range PCR primers for resequencing NIPA2
    DNA2.0 Custom Variant and Variant Library Synthesis for NIPA2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 608146    OMIM disorders: --

    11 diseases for NIPA2:    
    About MalaCards
    microdeletion 15q11.2    prader-willi syndrome    autosomal recessive congenital ichthyosis    angelman syndrome
    childhood absence epilepsy    hereditary spastic paraplegia    paraplegia    spasticity
    prostate cancer    prostatitis    malaria

    2 diseases from the University of Copenhagen DISEASES database for NIPA2:
    Angelman syndrome     Prader-Willi syndrome

    NIPA2 for disorders           About GeneDecksing


    Export disorders for NIPA2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    TryGeneCards Plus

    PubMed articles for NIPA2 gene, integrated from 10 sources (see all 15):
    (articles sorted by number of sources associating them with NIPA2)
        Utopia: connect your pdf to the dynamic
    world of online information

    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. (PubMed id 14508708)1, 2, 3 Chai J.-H.... Nicholls R.D. (Am. J. Hum. Genet. 2003)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances. (PubMed id 19328872)1, 9 Doornbos M....van Ravenswaaij-Arts C.M. (Eur J Med Genet 2009)
    5. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    6. NIPA2 located in 15q11.2 is mutated in patients with childhood absence epilepsy. (PubMed id 22367439)1 Jiang Y....Wu X. (Hum. Genet. 2012)
    7. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    8. Molecular identification of ancient and modern mammalian magnesium transporters. (PubMed id 19940067)1 Quamme G.A. (Am. J. Physiol., Cell Physiol. 2010)
    9. Analysis of the DNA sequence and duplication history of human chromosome 15. (PubMed id 16572171)2 Zody M.C....Nusbaum C. (Nature 2006)
    10. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 81614 HGNC: 17044 AceView: NIPA2 Ensembl:ENSG00000140157 euGenes: HUgn81614
    ECgene: NIPA2 H-InvDB: NIPA2

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for NIPA2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for NIPA2 gene:
    Search GeneIP for patents involving NIPA2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for NIPA2  
     OriGene qPCR primer pairs and template standards for NIPA2   OriGene Protein Over-expression Lysate for NIPA2  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for NIPA2  
     OriGene qSTAR qPCR primer pairs in human, mouse for NIPA2   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for NIPA2   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for NIPA2   OriGene Custom Protein Services for NIPA2  

     
     
     Block miRNA regulation of human, mouse, rat NIPA2 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing NIPA2
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NIPA2 Predesigned siRNA for gene silencing in human, mouse, rat NIPA2
     QuantiFast Probe-based Assays in human, mouse, rat NIPA2 QuantiTect SYBR Green Assays in human, mouse, rat NIPA2
     Custom PCR Arrays for NIPA2 Search Chromatin IP Primers for NIPA2
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NIPA2  Search GeneGlobe Interaction Network for NIPA2
     Regulatory tfbs in NIPA2 promoter
     GenScript Custom Purified and Recombinant Proteins Services for NIPA2 GenScript cDNA clones with any tag delivered in your preferred vector for NIPA2
     GenScript Custom Assay Services for NIPA2 GenScript Custom overexpressing Cell Line Services for NIPA2
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for NIPA2
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     NIPA2 antibodies
     NIPA2 proteins
     NIPA2 lysates
     Antibodies for NIPA2
     See all of Abcam's Antibodies, Kits and Proteins for NIPA2
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for NIPA2
     Antibodies for NIPA2
     ELISAs for NIPA2
     CLIAs for NIPA2



     Browse ESI BIO Cell Lines and PureStem Progenitors for NIPA2
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NIPA2
     SwitchGear 3'UTR luciferase reporter plasmids for NIPA2
     SwitchGear Promoter luciferase reporter plasmids for NIPA2
     ThermoFisher Antibodies for NIPA2
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NIPA2
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NIPA2
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for NIPA2
     LSBio Antibodies in human, mouse, rat for NIPA2
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      NIPA2 gene at Home site.
    Version: 3.12.166 28 Aug 2014
    hostname: 356980-web2.xennexinc.com index build: 126 solr: 1.4