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NIPA2 Gene

protein-coding   GIFtS: 49

GC15M020556
non imprinted in Prader-Willi/Angelman syndrome 2
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
MGC5466 2
Descriptions
non imprinted in Prader-Willi/Angelman syndrome 2 2
non-imprinted in Prader-Willi/Angelman syndrome 2 2
External Ids
HGNC: 170441
Entrez Gene: 816142
UniProtKB: Q8N8Q93
Ensembl: ENSG000001401577
Search outside databases for aliases for NIPA2 gene

Previous GC identifers: GC15M020423 GC15M020553

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Gene Wiki entry for NIPA2
(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the NIPA2 gene  

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)

GeneLoc gene densities for chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M020556:     (about GC identifiers)

Start:
20,556,788 bp from pter
End:
20,585,849 bp from pter
Size:
29,062 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000015.8  NT_078094.1  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: NIPA2_HUMAN, Q8N8Q9 (See protein sequence)
Recommended Name: Non-imprinted in Prader-Willi/Angelman syndrome region protein 2  
Size: 360 amino acids; 39185 Da
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Secondary accessions: Q96F03 Q9BVS2

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins (4 alternative transcripts): 
    NP_001008860.1  NP_001008892.1  NP_001008894.1  NP_112184.4  


    ENSEMBL proteins: 
    ENSP00000337618 ENSP00000352762 ENSP00000381096 ENSP00000381095 


    Human Recombinant Proteins 
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    Browse Abnova for Human Recombinant Proteins
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    2 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016020 membrane IEA--
    GO:0016021 integral to membrane IEA--
    About this table

    Antibodies for NIPA2: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Search for antibodies at Abcam and the World's Antibody Gateway (free search engine of over 150 antibody companies)
    Browse Abnova for Monoclonal and Polyclonal Antibodies
    Search Novus for antibodies for NIPA2

    Assays for NIPA2: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

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

    1 InterPro domain/family:
     IPR008521 DUF803


       GeneDecks  NIPA2 for the domains selected above  
    About GeneDecksing

    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

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (NIPA2)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4): NM_001008860

                  Applied Biosystems Silencer® siRNAs for NIPA2

                  Sigma-Aldrich siRNA for NIPA2  
                         Sigma-Aldrich shRNA for NIPA2  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for NIPA2
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 4): NM_001008860
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 4): NM_001008860
                                     untagged cDNA clones in CMV expression vector (see all 4): NM_001008860 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_001008860

    1 MGI phenotypic allele for Nipa2 (no phenotypes)

    1 Gene Ontology (GO) molecular function term (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515 protein binding IEA--
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section



    4 Interacting proteins for NIPA2 (ENSP000003376183) via UniProtKB, MINT, and/or STRING
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TUBGCP5ENSP000002836453STRING (score=.965)
    CYFIP1ENSP000003245493STRING (score=.964)
    FMR1ENSP000003595063STRING (score=.711)
    --ENSP000002259563STRING (score=.961)
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for NIPA2

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (NIPA2)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4): NM_001008860

                  Sigma-Aldrich siRNA for NIPA2  
                         Sigma-Aldrich shRNA for NIPA2  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_001008860  NM_001008892  NM_001008894  NM_030922  

    REFSEQ mRNAs for NIPA2 gene (4 alternative transcripts): 

    NM_001008860.1   NM_001008892.1   NM_001008894.1   NM_030922.5   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_001008860  NM_001008892  NM_001008894  NM_030922  

                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 4): NM_001008860
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 4): NM_001008860
                                     untagged cDNA clones in CMV expression vector (see all 4): NM_001008860 

    Additional cDNA sequence: 

    AK096305.1 AK300843.1 AK313584.1 AY732242.1 BC000957.3 BC011775.2 CR598795.1 CR606982.1 
    CR625512.1 U90904.1 

    24/27 DOTS entries (see all 27 ):

    DT.99970876  DT.451960  DT.91865366  DT.121069748  DT.101959366  DT.121069758  DT.121069777  DT.121069762 
    DT.75115206  DT.101974439  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 

    24/348 AceView cDNA sequences (see all 348 ):

    CB121187 AA480270 BE669926 BU542017 BQ018262 BQ066545 AA890651 Z39245 
    BQ428099 AI962854 BM850398 BF970642 AI922763 AW770149 N67361 BM723754 
    BU153862 BU621473 AA912096 F09926 AI434382 AI453542 CB051159 BQ928926 

    highest scoring ESTs for NIPA2:

    BC011775 BE735678 BE737509 BE784608 BE900924 BG708105 BG773477 BU542017 BX340598 CB155720 

    Unigene Cluster for NIPA2:

    Non imprinted in Prader-Willi/Angelman syndrome 2
    Hs.591003  [show with all ESTs]
    Unigene Representative Sequence: AY732242


    GeneLoc Exon Structure

    5/18 Alternative Splicing Database (ASD) splice patterns (SP) for NIPA2 (see all 18 )

    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:                        

    About this scheme

    ECgene alternative splicing isoforms for NIPA2

    4 Ensembl transcripts including schematic representations:
    ENST00000337451  ENST00000359727  ENST00000398014  ENST00000398013  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    NIPA2 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for NIPA2

    1 / 2 / 3

    2 probe-sets matching NIPA2 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    212129_at2, 3 U133-A 1 1.00 1.00 -- -- AI589507 0.60 1.00 0.82 1

    212129_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    About this table
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: TTATAATAAA

    SOURCE GeneReport for Unigene cluster: Hs.591003

    Expression variation in blood from EXPOLDB for NIPA2

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

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for NIPA2 gene from 5/21 species (see all 21 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    NIPA21   -- non imprinted in Prader-Willi/Angelman syndrome 2 93.43(n)
    97.78(a)
    479002  XM_536157.2  XP_536157.1 
    chimpanzee
    (Pan troglodytes)
    NIPA21   -- non imprinted in Prader-Willi/Angelman syndrome 2 99.72(n)
    99.72(a)
    453275  XM_510259.2  XP_510259.2 
    cow
    (Bos taurus)
    NIPA21   -- non imprinted in Prader-Willi/Angelman syndrome 2 92.04(n)
    96.11(a)
    507430  NM_001034298.1  NP_001029470.1 
    rat
    (Rattus norvegicus)
    Nipa21   -- non imprinted in Prader-Willi/Angelman syndrome 2 homolog more 90.62(n)
    96.1(a)
    308667  XM_218718.3  XP_218718.1 
    mouse
    (Mus musculus)
    Nipa21, 5 75
    non imprinted in Prader-Willi/Angelman syndrome 2 homolog more1, 5 90.71(n)1
    95.82(a)1
    937901  NM_023647.31  NP_076136.21 
     AA7909265  AA9897515  (see all 29)
    About this table        Species with no ortholog for NIPA2

    ENSEMBL Gene Tree for NIPA2
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for NIPA2 gene
    NIPAL12  NIPAL42  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/258 NCBI SNPs in NIPA2 are shown (see all 258 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 90)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 15 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs36931,2
    A,C,F,H,O20556334(+) TAATAA/CAGTTG 4 -- ng5118Minor allele frequency- C:0.39NS MN NA EU EA WA 1438
    rs37851,2
    A,C,F,H20556643(+) CCATCG/AACTTC 4 -- ng5115Minor allele frequency- A:0.37NS MN EU EA WA 1316
    rs37861,2
    C,F,H20556822(+) CTAAAT/CTTAAG 4 -- ut3113Minor allele frequency- C:0.28MN EU EA WA NA 1222
    --
    rs47782601,2
    A,C20586373(-) tcactG/Tcaagc 4 -- ng310--------
    rs10512871,2
    F,H20556398(-) CCCTGC/TCAATG 4 -- ng514Minor allele frequency- T:0.07MN EU EA 478
    rs36951,2
    H20556343(+) TGGAAA/GAAAGG 4 -- ng515Minor allele frequency- G:0.00MN EU EA WA 576
    rs154841,2
    F20557282(+) AAAAAA/GCCTTA 4 -- ut311Minor allele frequency- G:0.41MN 184
    rs125944901,2
    H20572780(+) CATTTC/TGTTTG 4 -- ut51 ese34Minor allele frequency- T:0.00EU EA WA 420
    rs71708381,2
    A,C,F,H20572679(+) AGGCCC/TTTTTT 4 K/K syn1 trp38Minor allele frequency- T:0.27MN NA EU EA WA 746
    rs38129221,2
    F,H20558148(+) ATGCCC/AAGGCC 4 L/L syn1 ese35Minor allele frequency- A:0.18EA EU WA 1728
    About this table

    HapMap Linkage Disequilibrium images for NIPA2 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 608146

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

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

    9 PubMed articles for NIPA2 gene:
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     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, and/or H-InvDB)
    About This Section

    Entrez Gene: 81614 HGNC: 17044 AceView: NIPA2 Ensembl:ENSG00000140157 euGenes: HUgn81614
    ECgene: NIPA2 H-InvDB: NIPA2
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

      --
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for NIPA2:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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     Predesigned and custom siRNAs for NIPA2 Browse antibodies at Sigma-Aldrich
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