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PNMA6A Gene

protein-coding   GIFtS: 37
GCID: GC0XP152338

Paraneoplastic Ma Antigen Family Member 6A

(Previous name: paraneoplastic antigen like 6A)
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Aliases
for PNMA6A gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Paraneoplastic Ma Antigen Family Member 6A1 2     Paraneoplastic Antigen-Like 6A Related Protein2
Paraneoplastic Antigen Like 6A1 2     Paraneoplastic Antigen-Like Protein 6A2
PNMA62 5     Paraneoplastic Antigen-Like Protein 6A Related2
MA62     Paraneoplastic Antigen-Like Protein 6C2
PNMA6C2     Paraneoplastic Ma Antigen Family Member 6C2
Paraneoplastic Antigen Like 6C2     

External Ids:    HGNC: 282481   Entrez Gene: 849682   Ensembl: ENSG000002242017   OMIM: 3009175   UniProtKB: P0CW243   

Export aliases for PNMA6A gene to outside databases

Previous GC identifers: GC0XP150859 GC0XP151911 GC0XP151991


Summaries
for PNMA6A gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for PNMA6A Gene:
PNMA6A (paraneoplastic Ma antigen family member 6A) is a protein-coding gene. An important paralog of this gene is PNMA5.


Genomic Views
for PNMA6A 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		 Regulatory elements:
   Regulatory transcription factor binding sites in the PNMA6A gene promoter:
         CREB   SREBP-1a   deltaCREB   SREBP-1c   MyoD   NRSF form 2   SREBP-1b   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: PNMA6A promoter sequence
   Search Chromatin IP Primers for PNMA6A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PNMA6A


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

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

PNMA6A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PNMA6A gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP152338:  view genomic region     (about GC identifiers)

Start:
 152,240,839 bp from pter      End:
 152,340,864 bp from pter
Size:
 100,026 bases      Orientation:
 plus strand

Proteins
for PNMA6A gene

(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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: PNM6A_HUMAN, P0CW24 (See protein sequence)
Recommended Name: Paraneoplastic antigen-like protein 6A  
Size: 399 amino acids; 44006 Da
Secondary accessions: A8K1G4 D3DWT8 Q96A40

Explore the universe of human proteins at neXtProt for PNMA6A: NX_P0CW24

Explore proteomics data for PNMA6A at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys244

    • See PNMA6A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_116271.3  
    ENSEMBL proteins: 
     ENSP00000405718   ENSP00000441213  

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    Domains /
    Families
    for PNMA6A gene

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

    TryGeneCards Plus    		 HGNC Gene Families:
    PNMA: Paraneoplastic Ma antigens

    1 InterPro protein domain:
     IPR026523 PNMA

    Graphical View of Domain Structure for InterPro Entry P0CW24

    ProtoNet protein and cluster: P0CW24

    UniProtKB/Swiss-Prot: PNM6A_HUMAN, P0CW24
    Similarity: Belongs to the PNMA family


    Find genes that share domains with PNMA6A           About GenesLikeMe


    Function
    for PNMA6A gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for PNMA6A

    miRNA
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    Localization
    for PNMA6A gene

    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol1
    mitochondrion1
    nucleus1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----

    Find genes that share ontologies with PNMA6A           About GenesLikeMe


    Pathways & Interactions
    for PNMA6A gene

    (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).
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    Interactions:

        Search GeneGlobe Interaction Network for PNMA6A

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

    1 Interacting protein for PNMA6A (P0CW243 ENSP000004057184) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PNMA1Q8ND903, ENSP000003189144I2D: score=5 STRING: ENSP00000318914
    About this table

    Drugs & Compounds
    for PNMA6A gene

    (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)
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    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for PNMA6A (PNM6A)



    Transcripts
    for PNMA6A gene

    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for PNMA6A gene (2 alternative transcripts): 
    NM_001170944.1  NM_032882.5  

    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000453825 ENST00000535416
    miRNA
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    Inhib. RNA
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    Selected AceView cDNA sequences (see all 41):

    BG059973 AI675171 BM698946 BM703493 AW611713 N22466 AI885740 CA392698 
    BC007631 CA392699 BX118395 AL538406 BG116201 BX423799 BM805197 BM669739 
    AI498794 NM_032882 BX325209 BF972760 BX325210 BM715325 BF508272 AK055322 

    GeneLoc Exon Structure


    Expression
    for PNMA6A gene

    (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

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    PNMA6A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACTGTGGGAG
    PNMA6A Expression
    About this image

    PNMA6A Protein expression data from MOPED1, PaxDb2 and MaxQB3:     About this image

    PNMA6A Protein Expression
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    In Situ
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    Orthologs
    for PNMA6A gene

    (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)
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    This gene was present in the common ancestor of mammals.

    Orthologs for PNMA6A gene from Selected species (see all 3)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    dog
    (Canis familiaris)    		 Mammalia LOC1006874961 collagen alpha-1(I) chain-like 64.78(n)
    52.65(a)    		   100687496  XM_005641984.1  XP_005642041.1 


    ENSEMBL Gene Tree for PNMA6A (if available)
    TreeFam Gene Tree for PNMA6A (if available)

    Paralogs
    for PNMA6A gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PNMA6A gene
    PNMA52  PNMA12  PNMA6D2  PNMA22  PNMAL22  PNMA6C2  MOAP12  PNMA32  
    ZCCHC122  ZCCHC182  PNMAL12  PNMA6B2  
    8 SIMAP similar genes for PNMA6A using alignment to 1 protein entry:     PNM6A_HUMAN:
    PNMA6B    PNMA6C    PNMA6D    PNMA1    MOAP1    PNMA2
    PNMA3    PNMA5

    Find genes that share paralogs with PNMA6A           About GenesLikeMe



    Genomic Variants
    for PNMA6A gene

    (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)
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    3 SNPs for PNMA6A    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr X posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs2009989321,2
    		----152337890(+) ACGCC-/TGTGGGGT 2 -- cds10--------
    rs2019977191,2
    		----152340425(+) CGTATC/GGTGAG 2 -- ds50010--------
    rs2012321511,2
    		----152339071(+) CAAAGC/TGTTTC 4 A V mis10--------

    HapMap Linkage Disequilibrium report for PNMA6A (152240839 - 152340864 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for PNMA6A:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv9997CNV Gain18304495
    esv33199CNV Gain+Loss17666407
    essv6402CNV CNV17122850
    dgv2494e1CNV Complex17122850
    nsv7467OTHER Inversion18451855

    Locus Specific Mutation Databases (LSDB): PNMA6A

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    Disorders / Diseases
    for PNMA6A gene

    (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: 300917    OMIM disorders: --


    Find genes that share disorders with PNMA6A           About GenesLikeMe


    Export disorders for PNMA6A gene to outside databases

    Publications
    for PNMA6A gene

    (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

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    PubMed articles for PNMA6A gene, integrated from 10 sources (see all 15):
    (articles sorted by number of sources associating them with PNMA6A)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 3 Ota T.... Sugano S. (Nat. Genet. 2004)
    2. A functional -1 ribosomal frameshift signal in the human paraneoplastic Ma3 gene. (PubMed id 16407312)1 Wills N.M....Atkins J.F. (J. Biol. Chem. 2006)
    3. The LIFEdb database in 2006. (PubMed id 16381901)1 Mehrle A....Wiemann S. (Nucleic Acids Res. 2006)
    4. 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)
    5. The DNA sequence of the human X chromosome. (PubMed id 15772651)2 Ross M.T.... Bentley D.R. (Nature 2005)
    6. A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)1 Stelzl U.... Wanker E.E. (Cell 2005)
    7. The human PNMA family: novel neuronal proteins implicated in paraneoplastic neurological disease. (PubMed id 16214224)1 Schueller M.... Voltz R. (J. Neuroimmunol. 2005)
    8. Comprehensive proteomic analysis of human Par protein complexes reveals an interconnected protein network. (PubMed id 14676191)1 Brajenovic M.... Drewes G. (J. Biol. Chem. 2004)
    9. From ORFeome to biology: a functional genomics pipeline. (PubMed id 15489336)1 Wiemann S....Poustka A. (Genome Res. 2004)
    10. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    External Searches for PNMA6A gene

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

    Genome Databases showing PNMA6A gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 84968 HGNC: 28248 AceView: PNMA6A Ensembl:ENSG00000224201 euGenes: HUgn84968
    ECgene: PNMA6A H-InvDB: PNMA6A

    Other Databases showing PNMA6A gene

    (According to HUGE)
    About This Section

    TryGeneCards Plus    		   --

    Specialized Databases showing PNMA6A gene

    (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

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    NameDescription
    PharmGKB entry for PNMA6A Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for PNMA6A gene

    (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 PNMA6A gene:
    Search GeneIP for patents involving PNMA6A

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



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    Advanced Cell Diagnostics, Animal models from genOway)
    About This Section

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