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

ZNF250 Gene

protein-coding   GIFtS: 53
GCID: GC08M146078

zinc finger protein 250

(Previous name: zinc finger protein 647 )
(Previous symbol: ZNF647)
 Explore 1 disease affiliated with
ZNF250 via our new
 Human Malady Compendium 
Biological research products
for ZNF250
    

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

Aliases
Zinc Finger Protein 2501 2
Zinc Finger Protein 6471 2 3
ZNF6471 2 3
ZFP6471 2
MGC97181
Zinc Finger Protein (Clone 647)2

External Ids:    HGNC: 130441   Entrez Gene: 585002   Ensembl: ENSG000001961507   UniProtKB: P156223   

Export aliases for ZNF250 gene to outside databases

Previous GC identifers: GC00U990513 GC08M141218


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

UniProtKB/Swiss-Prot: ZN250_HUMAN, P15622
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NC_018919.1  NT_037704.5  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for ZNF250
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidZNF250 promoter sequence
   Search SABiosciences Chromatin IP Primers for ZNF250

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ZNF250


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

Entrez Gene cytogenetic band: 8q24.3   Ensembl cytogenetic band:  8q24.3   HGNC cytogenetic band: 8q24.3

ZNF250 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ZNF250 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M146078:  view genomic region     (about GC identifiers)

Start:
146,076,632 bp from pter      End:
146,127,553 bp from pter
Size:
50,922 bases      Orientation:
minus 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: ZN250_HUMAN, P15622 (See protein sequence)
Recommended Name: Zinc finger protein 250  
Size: 560 amino acids; 63468 Da
Subcellular location: Nucleus (Probable)
Sequence caution: Sequence=BAD92047.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=CAA34358.1; Type=Frameshift; Positions=458, 488;
Secondary accessions: D3DWP1 Q59HE9 Q8N942 Q96AH9
Alternative splicing: 3 isoforms:  P15622-1   P15622-2   P15622-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ZNF250: NX_P15622

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P15622

  • ZNF250 Protein expression data from MOPED and PaxDb:    About this image 
    ZNF250 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001103159.1  NP_066405.1  

    ENSEMBL proteins: 
     ENSP00000431551   ENSP00000432611   ENSP00000433920   ENSP00000292579   ENSP00000393442  
     ENSP00000432702   ENSP00000433387   ENSP00000432450   ENSP00000433725   ENSP00000445840  
     ENSP00000344136  
    Reactome Protein details: P15622
    Human Recombinant Protein Products for ZNF250: 
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    Uscn Proteins for ZNF250

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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

    ZNF250 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for ZNF250


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

    ZNF250 for domains           About GeneDecksing

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

    Graphical View of Domain Structure for InterPro Entry P15622

    ProtoNet protein and cluster: P15622

    2 Blocks protein families:
    IPB001909 KRAB box
    IPB007086 C2H2-type zinc finger signature


    UniProtKB/Swiss-Prot: ZN250_HUMAN, P15622
    Similarity: Belongs to the krueppel C2H2-type zinc-finger protein family
    Similarity: Contains 13 C2H2-type zinc fingers
    Similarity: Contains 1 KRAB domain


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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ZN250_HUMAN, P15622
    Function: May be involved in transcriptional regulation

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding IEA--
    GO:0008270zinc ion binding IEA--
         
    ZNF250 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Zfp647):
     no phenotypic analysis 

    ZNF250 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for ZNF250 

    miRNA
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    OriGene 3'-UTR Clone (see all 2): ZNF250
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    hsa-miR-219-1-3p hsa-miR-583 hsa-miR-146a* hsa-miR-183* hsa-miR-135b hsa-miR-670 hsa-miR-186 hsa-miR-532-5p
    SwitchGear 3'UTR luciferase reporter plasmidZNF250 3' UTR sequence
    Inhib. RNA
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ZNF250


    (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

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Generic Transcription Pathway
    Generic Transcription Pathway1.00
    Gene Expression0.46

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    2        Reactome Pathways for ZNF250
        Generic Transcription Pathway
    Gene Expression



    ZNF250 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ZNF250

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    5/18 Interacting proteins for ZNF250 (P156222, 3 ENSP000002925794) via UniProtKB, MINT, STRING, and/or I2D (see all 18)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TNNT1P138052, 3, ENSP000002919014MINT-8275149 I2D: score=2 STRING: ENSP00000291901
    CCDC85BQ158343, ENSP000003116954I2D: score=4 STRING: ENSP00000311695
    NINLQ9Y2I63, ENSP000002788864I2D: score=4 STRING: ENSP00000278886
    ZBTB8AQ96BR93, ENSP000003626094I2D: score=2 STRING: ENSP00000362609
    DVL2O146413, ENSP000000053404I2D: score=4 STRING: ENSP00000005340
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

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

    ZNF250 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 ZNF250
    Search CenterWatch for drugs/clinical trials and news about ZNF250 / ZN250 

    (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 ZNF250 gene (2 alternative transcripts): 
    NM_001109689.3  NM_021061.4  

    Unigene Cluster for ZNF250:

    Zinc finger protein 250
    Hs.532277  [show with all ESTs]
    Unigene Representative Sequence: NM_021061
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000528258 ENST00000529780 ENST00000533543 ENST00000292579(uc003zer.4 uc003zeq.4 uc010mgg.3)
    ENST00000417550 ENST00000533221 ENST00000533622 ENST00000525694 ENST00000527208
    ENST00000528028(uc003zes.2) ENST00000527049 ENST00000543949(uc010mgf.2)
    ENST00000342660

    miRNA
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    hsa-miR-219-1-3p hsa-miR-583 hsa-miR-146a* hsa-miR-183* hsa-miR-135b hsa-miR-670 hsa-miR-186 hsa-miR-532-5p
    SwitchGear 3'UTR luciferase reporter plasmidZNF250 3' UTR sequence
    Inhib. RNA
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    Additional cDNA sequence: 

    AB208810.1 AK054888.1 AK095705.1 BC017091.1 X16282.1 

    11 DOTS entries:

    DT.453816  DT.100018605  DT.95153025  DT.40120648  DT.402780  DT.97813499  DT.120648794  DT.120648807 
    DT.306241  DT.40116671  DT.75123533 

    24/52 AceView cDNA sequences (see all 52):

    D38746 AV727968 AA457686 NM_021061 BF115138 AI888500 C01648 BC017091 
    BM931758 BM128058 AI040975 BF112118 AI565750 AA456671 AI760423 BG772120 
    BE350026 BE885790 AW057638 BX648173 BI820228 AV725534 W73973 W72342 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for ZNF250 (see all 7)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c · 8d ^ 9
    SP1:                          -                                                                           
    SP2:                          -           -                                                               
    SP3:                                      -                                                               
    SP4:                                      -                                   -     -     -     -         
    SP5:                                      -                             -                                 


    ECgene alternative splicing isoforms for ZNF250

    (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

    ZNF250 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCGAAAACCC
    ZNF250 Expression
    About this image

    ZNF250 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    4 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BrainHypothalamusBrain
    BrainMedulla OblongataBrain
    BrainMidbrain tegmentumBrain
    Neural TubeMetencephalonNeural Tube
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See ZNF250 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ZNF250

    SOURCE GeneReport for Unigene cluster: Hs.532277
        SABiosciences Custom PCR Arrays for ZNF250
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ZNF250

    (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

    This gene was present in the common ancestor of chordates.

    Orthologs for ZNF250 gene from 1/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves --
    --
    (see all 8)
    --
    44(a)
    38(a)
    (see all 8)
    many ↔ many
    many ↔ many
    (see all 8)
    Un(41687425-41690654)
    Un(16877163-16880802)


    ENSEMBL Gene Tree for ZNF250 (if available)
    TreeFam Gene Tree for ZNF250 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ZNF250 gene
    ZNF5702  ZNF2872  ZNF1812  ZFP282  ZNF4712  ZNF72  ZNF8792  ZNF3022  
    ZNF354C2  ZNF742  ZNF5832  ZFP902  ZNF1892  ZNF354A2  ZNF354B2  ZNF1352  
    ZNF5682  ZNF342  ZNF5272  ZNF82  ZNF5692  ZNF4702  
    18/523 SIMAP similar genes for ZNF250 using alignment to 8 protein entries:     ZN250_HUMAN (see all proteins) (see all similar genes):
    kr-znf3    ZNF300P1    ZNF66    ZNF283    ZNF582    ZNF461
    ZNF850    MRPS17    ZFS-4    ZNF33B    ZNF267    ZNF146
    ZNF629    ZNF78L1    ZNF818P    ZNF707    ZNF420    ZNF844

    ZNF250 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for ZNF250
    PGOHUM00000234826


    (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

    10/645 NCBI SNPs in ZNF250 are shown (see all 645    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1875860001,2
    --146101925(+) ACCACA/GAGGGT 2 -- int10--------
    rs1921968821,2
    --146101933(+) GGTCCA/GCAGCT 2 -- int10--------
    rs119941531,2
    C,F,H--146101940(+) agcttC/Tattct 2 -- int15Minor allele frequency- T:0.02NS EA NA 422
    rs1421017111,2
    --146101970(+) AACCCA/TCCAAT 2 -- int10--------
    rs1851054661,2
    --146102025(+) GACATA/GGGATA 2 -- int10--------
    rs1880255361,2
    --146102137(+) ATACCC/TGGTCA 2 -- int10--------
    rs1929969531,2
    --146102240(+) TTGTAC/TATTCT 2 -- int10--------
    rs1504668611,2
    --146102274(+) GTCCTA/GTGGTC 2 -- int10--------
    rs1383257341,2
    --146102348(+) CAGTCA/GTTACT 2 -- ut310--------
    rs798813331,2
    F--146102575(+) CAATCA/TATCCT 2 -- ut311Minor allele frequency- T:0.11WA 118

    HapMap Linkage Disequilibrium report for ZNF250 (146076632 - 146127553 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ZNF250: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ZNF250
    DNA2.0 Custom Variant and Variant Library Synthesis for ZNF250

    (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

    ZNF250 for disorders           About GeneDecksing

    1 disease for ZNF250:    About MalaCards
    leiomyosarcoma

    1 disease from the University of Copenhagen DISEASES database for ZNF250:
    Gastrointestinal stromal tumor

    Export disorders for ZNF250 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 ZNF250 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with ZNF250)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    4. A directed protein interaction network for investigat ing intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (2011)
    5. Systematic analysis of human protein complexes identi fies chromosome segregation proteins. (PubMed id 20360068)1 Hutchins J.R....Peters J.M. (2010)
    6. 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)
    7. DNA sequence and analysis of human chromosome 8. (PubMed id 16421571)2 Nusbaum C....Lander E.S. (2006)
    8. Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 58500 HGNC: 13044 AceView: ZNF647 Ensembl:ENSG00000196150 euGenes: HUgn58500
    ECgene: ZNF250 H-InvDB: ZNF250

    (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 ZNF250 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 ZNF250 gene:
    Search GeneIP for patents involving ZNF250

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



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