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ZNF81 Gene

protein-coding   GIFtS: 48
GCID: GC0XP047696

Zinc Finger Protein 81

(Previous names: zinc finger protein 81 (HFZ20), mental retardation, X-linked...)
(Previous symbol: MRX45)
  See ZNF81-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)
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Aliases
Zinc Finger Protein 811 2
MRX451 2 5
HFZ202 3
Mental Retardation, X-Linked 451
Zinc Finger Protein 81 (HFZ20)1
dJ54B20.62

External Ids:    HGNC: 131561   Entrez Gene: 3473442   Ensembl: ENSG000001977797   OMIM: 3149985   UniProtKB: P515083   

Export aliases for ZNF81 gene to outside databases

Previous GC identifers: GC0XU990240 GC0XM046035 GC0XM046352 GC0XP046779 GC0XP047452 GC0XP047581 GC0XP045408


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ZNF81 Gene:
This gene encodes a protein that likely functions as a transcription factor. The protein contains an N-terminal
KRAB domain and several C2H2-type zinc finger motifs. Mutations in this gene cause mental retardation X-linked
type 45 (MRX45). (provided by RefSeq, May 2010)

GeneCards Summary for ZNF81 Gene:
ZNF81 (zinc finger protein 81) is a protein-coding gene. Diseases associated with ZNF81 include mental retardation, x-linked, and aland island eye disease. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity. An important paralog of this gene is ZNF175.

UniProtKB/Swiss-Prot: ZNF81_HUMAN, P51508
Function: May be involved in transcriptional regulation




(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)
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RefSeq DNA sequence at NCBI GenBank:
NC_000023.10  NT_079573.5  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ZNF81 gene promoter:
         SRF   GATA-3   Pbx1a   FOXO4   SRF (504 AA)   STAT3   E4BP4   GATA-2   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidZNF81 promoter sequence
   Search Chromatin IP Primers for ZNF81

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ZNF81


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

Entrez Gene cytogenetic band: Xp11.23   Ensembl cytogenetic band:  Xp11.23   HGNC cytogenetic band: Xp11.23

ZNF81 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ZNF81 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP047696:  view genomic region     (about GC identifiers)

Start:
47,696,301 bp from pter      End:
47,861,960 bp from pter
Size:
165,660 bases      Orientation:
plus 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, 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: ZNF81_HUMAN, P51508 (See protein sequence)
Recommended Name: Zinc finger protein 81  
Size: 661 amino acids; 75960 Da
Secondary accessions: Q6RX22 Q96QH6

Explore the universe of human proteins at neXtProt for ZNF81: NX_P51508

Explore proteomics data for ZNF81 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ZNF81 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_009068.2  
    ENSEMBL proteins: 
     ENSP00000366153   ENSP00000334641   ENSP00000366149   ENSP00000341151  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ZNF: Zinc fingers, C2H2-type

    4 InterPro protein domains:
     IPR001909 Krueppel-associated_box
     IPR015880 Znf_C2H2-like
     IPR013087 Znf_C2H2/integrase_DNA-bd
     IPR007087 Znf_C2H2

    Graphical View of Domain Structure for InterPro Entry P51508

    ProtoNet protein and cluster: P51508

    2 Blocks protein domains:
    IPB001909 KRAB box
    IPB004301 Nucleoplasmin


    UniProtKB/Swiss-Prot: ZNF81_HUMAN, P51508
    Similarity: Belongs to the krueppel C2H2-type zinc-finger protein family
    Similarity: Contains 12 C2H2-type zinc fingers
    Similarity: Contains 1 KRAB domain


    Find genes that share domains with ZNF81           About GenesLikeMe


    (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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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ZNF81_HUMAN, P51508
    Function: May be involved in transcriptional regulation

         Genatlas biochemistry entry for ZNF81:
    zinc finger protein 81 (H2F10) (C2H2 type,Kruppel-like)

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity IBA--
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with ZNF81           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for ZNF81

    miRNA
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    miRTarBase miRNAs that target ZNF81:
    hsa-mir-26b-5p (MIRT029112)

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    hsa-miR-582-3p hsa-miR-642a hsa-miR-376b hsa-let-7d hsa-miR-605 hsa-miR-374a hsa-miR-507 hsa-miR-29b-1*
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    (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 UniProtKB/Swiss-Prot
    ZNF81_HUMAN, P51508: Nucleus (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    cytoskeleton1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus IEA--

    Find genes that share ontologies with ZNF81           About GenesLikeMe


    (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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ZNF81
    Interactions:

        Search GeneGlobe Interaction Network for ZNF81

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated IBA--

    Find genes that share ontologies with ZNF81           About GenesLikeMe



    (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
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ZNF81



    (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 ZNF81 gene: 
    NM_007137.3  

    Unigene Cluster for ZNF81:

    Zinc finger protein 81
    Hs.114246  [show with all ESTs]
    Unigene Representative Sequence: NM_007137
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000376954(uc010nhy.2) ENST00000334937 ENST00000376950 ENST00000483520
    ENST00000338637(uc022bvq.1)
    miRNA
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    hsa-miR-582-3p hsa-miR-642a hsa-miR-376b hsa-let-7d hsa-miR-605 hsa-miR-374a hsa-miR-507 hsa-miR-29b-1*
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      QuantiFast Probe-based Assays in human, mouse, rat ZNF81

    Additional mRNA sequence: 

    AK126339.1 AK126949.1 AY487248.1 BC039609.1 BC111389.1 

    6 DOTS entries:

    DT.307434  DT.409524  DT.102828185  DT.404589  DT.100001323  DT.75188065 

    Selected AceView cDNA sequences (see all 35):

    AI791522 AA707776 AA933086 AI733032 NM_007137 AW015406 AY487248 CA442920 
    BC039609 AK126339 AI028309 AK126949 AA761445 AA826195 BX105648 AI434443 
    AI792949 BX095158 BI869932 CA389063 BF508117 AI915418 AA173665 H80388 

    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™, 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)
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    ZNF81 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ZNF81 Expression
    About this image

    ZNF81 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ZNF81 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.114246
        Custom PCR Arrays for ZNF81
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    In Situ
    Assay Products:
     

     
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    (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 human and mouse.

    Orthologs for ZNF81 gene from Selected species (see all 4)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    rat
    (Rattus norvegicus)
    Mammalia LOC1003633721 zinc finger protein 81 (HFZ20)-like 81.74(n)
    75.11(a)
      100363372  XM_006256634.1  XP_006256696.1 


    ENSEMBL Gene Tree for ZNF81 (if available)
    TreeFam Gene Tree for ZNF81 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ZNF81 gene
    ZNF1752  ZNF6742  ZNF4872  ZNF5102  ZIM32  ZNF6142  ZNF1572  ZNF262  
    ZNF6132  ZNF6492  ENSG000002673602  ZNF7822  ZNF7932  ZNF252  ZNF5682  ENSG000002365752  
    ENSG000002296312  ZNF5672  ZNF1822  ZNF37A2  ZNF2482  ZNF3002  ZNF3822  RBAK-RBAKDN2  
    Selected SIMAP similar genes for ZNF81 using alignment to 4 protein entries:     ZNF81_HUMAN (see all proteins) (see all similar genes):
    ZNF705B    ZNF705F    ZNF705A    ZNF705E    ZNF420    POM121C
    ZNF320    KRBOX4    ZNF529    RBAK-RBAKDN    ZNF705G    ZNF614
    ZFP57    ZNF571    ZNF83    ZNF331    ZNF3    ZNF84

    Find genes that share paralogs with ZNF81           About GenesLikeMe


    2 Pseudogenes.org Pseudogenes for ZNF81
    PGOHUM00000234302 PGOHUM00000260297


    (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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    Selected SNPs for ZNF81 (see all 985)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1460682371,2
    --47613848(+) CCCAAC/TCTGTG 1 -- us2k10--------
    rs12074901,2
    C,F,A,H--47613927(+) GACTAT/Caaaaa 1 -- us2k1 tfbs314Minor allele frequency- C:0.10NS EA NA 1680
    rs1925019641,2
    --47614054(+) CCTACC/TTTAAG 1 -- us2k10--------
    rs1458428561,2
    --47617752(+) GACCAC/TGGCTT 1 -- int10--------
    rs1819045951,2
    --47617871(+) TAAACC/TGGGTC 1 -- int10--------
    rs1860772391,2
    --47618120(+) GACTTA/CTCCAG 1 -- int10--------
    rs1384661201,2
    C--47618691(+) AAGTTA/GTTGTG 1 -- int10--------
    rs1905909011,2
    --47618737(+) CAACCC/TGCTGT 1 -- int10--------
    rs1815264201,2
    C--47618762(+) TGGCTC/GCGGAC 1 -- int10--------
    rs598190831,2
    C,F--47618788(+) CCAACG/ACAAAT 1 -- int11Minor allele frequency- A:0.00WA 2

    HapMap Linkage Disequilibrium report for ZNF81 (47696301 - 47861960 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for ZNF81:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2545209CNV Deletion19546169
    esv271510CNV Insertion20981092
    dgv2442e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): ZNF81
    Locus Specific Mutation Databases (LSDB): ZNF81

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ZNF81
    DNA2.0 Custom Variant and Variant Library Synthesis for ZNF81

    (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.)
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    OMIM gene information: 314998   
    OMIM disorders: 300498  
    UniProtKB/Swiss-Prot: ZNF81_HUMAN, P51508
  • Mental retardation, X-linked 45 (MRX45) [MIM:300498]: A disorder characterized by significantly below
    average general intellectual functioning associated with impairments in adaptive behavior and manifested during
    the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental
    retardation, while syndromic mental retardation presents with associated physical, neurological and/or
    psychiatric manifestations. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Note=A chromosomal aberration involving ZNF81 is found in a severe mental retardation patient.
    Translocation t(X;9)(p11.23;q34.3)

  • 5 diseases for ZNF81:    
    About MalaCards
    mental retardation, x-linked    aland island eye disease    eye disease    mental retardation, x-linked 17/31, microduplication
    mental retardation

    2 diseases from the University of Copenhagen DISEASES database for ZNF81:
    Aland Island eye disease     Intellectual disability

    Find genes that share disorders with ZNF81           About GenesLikeMe


    Export disorders for ZNF81 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)
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    PubMed articles for ZNF81 gene, integrated from 10 sources (see all 12):
    (articles sorted by number of sources associating them with ZNF81)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation. (PubMed id 15121780)1, 2, 3 Kleefstra T.... van Bokhoven H. (J. Med. Genet. 2004)
    2. A novel X-linked member of the human zinc finger protein gene family: isolation, mapping, and expression. (PubMed id 8507979)1, 2, 3 Marino M.... Grimaldi G. (Mamm. Genome 1993)
    3. 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)
    4. The DNA sequence of the human X chromosome. (PubMed id 15772651)2 Ross M.T.... Bentley D.R. (Nature 2005)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. 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)
    7. Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: clinical and psychometric data and results of linkage analysis. (PubMed id 10398246)1 Hamel B.C....Kremer H. (Am. J. Med. Genet. 1999)
    8. Long-range map of a 3.5-Mb region in Xp11.23-22 with a sequence-ready map from a 1.1-Mb gene-rich interval. (PubMed id 8938429)1 Schindelhauer D.... Meindl A. (Genome Res. 1996)
    9. A high-resolution map of genes, microsatellite markers, and new dinucleotide repeats from UBE1 to the GATA locus in the region Xp11.23. (PubMed id 8530079)1 Kwan S.P....Rosen F.S. (Genomics 1995)
    10. A 1.8-Mb YAC contig in Xp11.23: identification of CpG islands and physical mapping of CA repeats in a region of high gene density. (PubMed id 8088827)1 Coleman M.P....Davies K.E. (Genomics 1994)

    (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)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 347344 HGNC: 13156 AceView: ZNF81 Ensembl:ENSG00000197779 euGenes: HUgn347344
    ECgene: ZNF81 H-InvDB: ZNF81

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ZNF81 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ZNF81 gene:
    Search GeneIP for patents involving ZNF81

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



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