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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PNMA3 Gene

protein-coding   GIFtS: 48
GCID: GC0XP152224

paraneoplastic Ma antigen 3

(Previous name: paraneoplastic antigen MA3 )
 Explore 5 diseases affiliated with
PNMA3 via our new
 Human Malady Compendium 
Biological research products
for PNMA3
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Paraneoplastic Ma Antigen 31 2     MGC1327561
MA31 2 3     MGC1327581
MA51 2     Paraneoplastic Cancer-Testis-Brain Antigen2
Paraneoplastic Antigen MA31 2     

External Ids:    HGNC: 187421   Entrez Gene: 299442   Ensembl: ENSG000001838377   OMIM: 3006755   UniProtKB: Q9UL413   

Export aliases for PNMA3 gene to outside databases

Previous GC identifers: GC0XP146564 GC0XP148882 GC0XP149972 GC0XP150843 GC0XP151895 GC0XP151975 GC0XP141026


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

Entrez Gene summary for PNMA3:
This gene is a member of the paraneoplastic antigen MA (PNMA) gene family, whose protein products share homology with
retroviral Gag proteins. They are highly expressed in the brain and also in a range of tumors associated with serious
neurological phenotypes. PMID:16407312 reports the presence of a functional -1 ribosomal frameshift signal (consisting
of a heptanucleotide shift motif followed 3' by a pseudoknot structure) in this gene, however, the frame-shifted
product has not been characterized. (provided by RefSeq, Jul 2008)




(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.1  NT_167198.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PNMA3 gene promoter:
         E2F-3a   E2F-4   E2F-5   SREBP-1c   E2F-2   SREBP-1b   E2F-1   E2F   SREBP-1a   HOXA5   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for PNMA3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PNMA3


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

Entrez Gene cytogenetic band: Xq28   Ensembl cytogenetic band:  Xq28   HGNC cytogenetic band: Xq28

PNMA3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PNMA3 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP152224:  view genomic region     (about GC identifiers)

Start:
152,224,766 bp from pter      End:
152,228,827 bp from pter
Size:
4,062 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: PNMA3_HUMAN, Q9UL41 (See protein sequence)
Recommended Name: Paraneoplastic antigen Ma3  
Size: 463 amino acids; 52404 Da
Subcellular location: Nucleus, nucleolus (By similarity)
Miscellaneous: Antibodies against PNMA3 are present in sera from patients suffering of paraneoplastic neurological
disorders
Secondary accessions: D3DWT7 Q9H0A4
Alternative splicing: 2 isoforms:  Q9UL41-1   Q9UL41-2   

Explore the universe of human proteins at neXtProt for PNMA3: NX_Q9UL41

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9UL41

  • PNMA3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_037496.3  
    ENSEMBL proteins: 
     ENSP00000359288   ENSP00000390576   ENSP00000359286   ENSP00000407642  

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    Uscn Proteins for PNMA3

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005730nucleolus IEA--


    PNMA3 for ontologies           About GeneDecksing



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

    PNMA3 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR026529 PNMA3
     IPR026523 PNMA
     IPR001878 Znf_CCHC

    Graphical View of Domain Structure for InterPro Entry Q9UL41

    ProtoNet protein and cluster: Q9UL41

    1 Blocks protein family: IPB001878 C2HC-type zinc-finger signature

    UniProtKB/Swiss-Prot: PNMA3_HUMAN, Q9UL41
    Similarity: Belongs to the PNMA family
    Similarity: Contains 1 CCHC-type zinc finger


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    miRNA
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    Inhib. RNA
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding IEA--
    GO:0008270zinc ion binding IEA--


    PNMA3 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for PNMA3:
     Decreased homologous recombina 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PNMA3

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for PNMA3 (Q9UL413 ENSP000003592864) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PARD6GQ9BYG43, ENSP000003431444I2D: score=1 STRING: ENSP00000343144
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006915apoptotic process NAS16214224


    PNMA3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PNMA3
    Search CenterWatch for drugs/clinical trials and news about PNMA3 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for PNMA3 gene: 
    NM_013364.4  

    Unigene Clusters for PNMA3:

    Paraneoplastic Ma antigen 3
    Hs.449627  [show with all ESTs], Hs.744496  [show with all ESTs]
    Unigene Representative Sequences: BC030761, NM_013364
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000370265 ENST00000424805(uc004fhd.3) ENST00000370264(uc022cho.1)
    ENST00000447306(uc004fhc.2)

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidPNMA3 3' UTR sequence
    Inhib. RNA
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    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PNMA3 (see all 3)
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PNMA3
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PNMA3

    Additional cDNA sequence: 

    AF083116.1 AK312299.1 AL136878.1 BC105096.1 BC105098.1 

    5 DOTS entries:

    DT.445726  DT.100751391  DT.91683288  DT.121306744  DT.100741065 

    24/57 AceView cDNA sequences (see all 57):

    CB134357 BM544400 AA322434 CB153962 BX494239 AL040126 H67501 BM728249 
    AF083116 BM544075 AI828763 AL042615 BG713993 BC030761 NM_013364 AL136878 
    AI026957 BP361636 BE463973 BM661597 AL538003 CA449774 BI753094 AI198567 

    GeneLoc Exon Structure


    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PNMA3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ACTCAGTTTC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See PNMA3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PNMA3

    SOURCE GeneReport for Unigene clusters: Hs.449627 Hs.744496

    UniProtKB/Swiss-Prot: PNMA3_HUMAN, Q9UL41
    Tissue specificity: Expressed at high levels in the brain and testis. Expressed at lower levels in the heart, trachea
    and kidney

        SABiosciences Custom PCR Arrays for PNMA3
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PNMA3

    (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
      --

    ENSEMBL Gene Tree for PNMA3 (if available)
    TreeFam Gene Tree for PNMA3 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PNMA3 gene
    PNMA6A2  PNMA52  PNMA12  PNMA6D2  PNMA22  PNMA6C2  MOAP12  PNMAL22  
    ZCCHC122  PNMAL12  PNMA6B2  
    8 SIMAP similar genes for PNMA3 using alignment to 1 protein entry:     PNMA3_HUMAN:
    PNMA2    PNMA1    MOAP1    PNMA6A    PNMA6B    PNMA6C
    PNMA6D    PNMA5

    PNMA3 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/107 NCBI SNPs in PNMA3 are shown (see all 107    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1409093581,2
    --152222799(+) TTGCAG/TAGGTG 1 -- us2k10--------
    rs792953481,2
    C,--152222863(+) CAGGGA/CAAGGC 1 -- us2k10--------
    rs1513135001,2
    --152222911(+) GTTTTC/TCACTT 1 -- us2k10--------
    rs1889668161,2
    --152223090(+) CACATC/GTATTG 1 -- us2k10--------
    rs1390489411,2
    --152223120(+) AAATCA/CTTTTT 1 -- us2k10--------
    rs1498882461,2
    --152223172(+) GGAACG/TTCACA 1 -- us2k10--------
    rs1113307021,2
    --152223205(+) AGACAT/CGCCCC 1 -- us2k11Minor allele frequency- C:0.00CSA 1
    rs751209381,2
    C,--152223310(+) TGAAC-/CTCTGTT 1 -- us2k10--------
    rs1448826381,2
    --152223327(+) CCCTGC/TAAGTT 1 -- us2k10--------
    rs120085831,2
    C,F,A,H,--152223464(+) CAATTC/ATACCC 1 -- us2k18Minor allele frequency- A:0.02NS EA NA 992

    HapMap Linkage Disequilibrium report for PNMA3 (152224766 - 152228827 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for PNMA3
         1 CNV: 4178
         1 Inversion: 37360
    Locus Specific Mutation Databases (LSDB): PNMA3

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for PNMA3

    (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

    PNMA3 for disorders           About GeneDecksing

    OMIM gene information: 300675    OMIM disorders: --

    5 diseases for PNMA3:    About MalaCards
    mammary duct ectasia    paraneoplastic neurologic disorders    bronchitis    neurologic diseases
    neuronitis


    Export disorders for PNMA3 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

    PubMed articles for PNMA3 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with PNMA3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular and clinical diversity in paraneoplastic immunity to Ma proteins. (PubMed id 11558790)1, 2, 3 Rosenfeld M.R.... Dalmau J. (2001)
    2. The human PNMA family: novel neuronal proteins implicated in paraneoplastic neurological disease. (PubMed id 16214224)1, 2 Schueller M.... Voltz R. (2005)
    3. 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. (2004)
    4. A functional -1 ribosomal frameshift signal in the human paraneoplastic Ma3 gene. (PubMed id 16407312)1, 9 Wills N.M....Atkins J.F. (2006)
    5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    6. The DNA sequence of the human X chromosome. (PubMed id 15772651)2 Ross M.T.... Bentley D.R. (2005)
    7. Comprehensive proteomic analysis of human Par protein complexes reveals an interconnected protein network. (PubMed id 14676191)1 Brajenovic M.... Drewes G. (2004)
    8. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    9. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)2 Wiemann S.... Poustka A. (2001)

    (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, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 29944 HGNC: 18742 AceView: PNMA3 Ensembl:ENSG00000183837 euGenes: HUgn29944
    ECgene: PNMA3 H-InvDB: PNMA3

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PNMA3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PNMA3 gene:
    Search GeneIP for patents involving PNMA3

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    VWF
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    von Willebrand factor
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