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SOHLH2 Gene

protein-coding   GIFtS: 45
GCID: GC13M036742

Spermatogenesis And Oogenesis Specific Basic Helix-Loop-Helix...

  See 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
Spermatogenesis And Oogenesis Specific Basic Helix-Loop-Helix 21 2
Spermatogenesis Associated 281 2
TEB12 3
SPATA282
bHLHe812
Spermatogenesis- And Oogenesis-Specific Basic Helix-Loop-Helix-Containing
Protein 22

External Ids:    HGNC: 260261   Entrez Gene: 549372   Ensembl: ENSG000001206697   UniProtKB: Q9NX453   

Export aliases for SOHLH2 gene to outside databases

Previous GC identifers: GC13M035642 GC13M017554


(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 SOHLH2 Gene:
This gene encodes one of testis-specific transcription factors which are essential for spermatogenesis, oogenesis
and folliculogenesis. This gene is located on chromosome 13. The proteins encoded by this gene and another
testis-specific transcription factor, SOHLH1, can form heterodimers, in addition to homodimers. There is a
read-through locus (GeneID: 100526761) that shares sequence identity with this gene and the upstream CCDC169
(GeneID: 728591). Alternatively spliced transcript variants encoding different isoforms have been found for this
gene. (provided by RefSeq, Aug 2013)

GeneCards Summary for SOHLH2 Gene:
SOHLH2 (spermatogenesis and oogenesis specific basic helix-loop-helix 2) is a protein-coding gene. Diseases associated with SOHLH2 include premature ovarian failure, and infertility. GO annotations related to this gene include protein dimerization activity. An important paralog of this gene is CCDC169-SOHLH2.

UniProtKB/Swiss-Prot: SOLH2_HUMAN, Q9NX45
Function: Probable transcription factor, which may be involved in spermatogenesis and oogenesis (By similarity)




(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:
NC_000013.11  NC_018924.2  NT_024524.15  
Regulatory elements:
   Regulatory transcription factor binding sites in the SOHLH2 gene promoter:
         TBP   S8   POU2F1   ATF-2   TFIID   POU2F1a   Sox9   Nkx2-5   LCR-F1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSOHLH2 promoter sequence
   Search Chromatin IP Primers for SOHLH2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SOHLH2


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

Entrez Gene cytogenetic band: 13q13.3   Ensembl cytogenetic band:  13q13.3   HGNC cytogenetic band: 13q13.3

SOHLH2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SOHLH2 gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13M036742:  view genomic region     (about GC identifiers)

Start:
36,742,345 bp from pter      End:
36,871,979 bp from pter
Size:
129,635 bases      Orientation:
minus 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: SOLH2_HUMAN, Q9NX45 (See protein sequence)
Recommended Name: Spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 2  
Size: 425 amino acids; 46941 Da
Secondary accessions: B4DX90 Q5EGC3 Q8TC74 Q96QX4
Alternative splicing: 3 isoforms:  Q9NX45-1   Q9NX45-2   Q9NX45-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SOHLH2: NX_Q9NX45

Explore proteomics data for SOHLH2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SOHLH2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001269076.1  NP_060296.2  

    ENSEMBL proteins: 
     ENSP00000369210   ENSP00000326838   ENSP00000451542  

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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:
    bHLH: Basic helix-loop-helix proteins

    1 InterPro protein domain:
     IPR011598 bHLH_dom

    Graphical View of Domain Structure for InterPro Entry Q9NX45

    ProtoNet protein and cluster: Q9NX45

    1 Blocks protein domain: IPB001092 Basic helix-loop-helix dimerization domain bHLH

    UniProtKB/Swiss-Prot: SOLH2_HUMAN, Q9NX45
    Similarity: Contains 1 bHLH (basic helix-loop-helix) domain


    SOHLH2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SOLH2_HUMAN, Q9NX45
    Function: Probable transcription factor, which may be involved in spermatogenesis and oogenesis (By similarity)

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0046983protein dimerization activity IEA--
         
    SOHLH2 for ontologies           About GeneDecksing


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Sohlh2):
     cellular  endocrine/exocrine gland  reproductive system 

    SOHLH2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for SOHLH2: Sohlh2tm1Miya Sohlh2tm1Rajk

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SOHLH2
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SOHLH2

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    5 qRT-PCR Assays for microRNAs that regulate SOHLH2:
    hsa-miR-374a* hsa-miR-576-5p hsa-miR-361-5p hsa-miR-4276 hsa-miR-1305
    SwitchGear 3'UTR luciferase reporter plasmidSOHLH2 3' UTR sequence
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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
    SOLH2_HUMAN, Q9NX45: Nucleus (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    nucleus2
    extracellular1

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

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

    SOHLH2 for ontologies           About GeneDecksing


    (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 SOHLH2
    Interactions:

        Search GeneGlobe Interaction Network for SOHLH2

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

    1 Interacting protein for SOHLH2 (Q9NX452, 3 ENSP000003692104) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TCEB3BQ8IYF12, 3, ENSP000003313024MINT-67917 I2D: score=5 STRING: ENSP00000331302
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated IEA--
    GO:0007275multicellular organismal development IEA--
    GO:0007283spermatogenesis IEA--
    GO:0030154cell differentiation IEA--

    SOHLH2 for ontologies           About GeneDecksing



    (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 SOHLH2 (SOLH2)



    (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,
    Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SOHLH2 gene (2 alternative transcripts): 
    NM_001282147.1  NM_017826.2  

    Unigene Cluster for SOHLH2:

    Spermatogenesis and oogenesis specific basic helix-loop-helix 2
    Hs.124519  [show with all ESTs]
    Unigene Representative Sequence: NM_001198910
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000379881(uc001uvj.3 uc010tei.2) ENST00000317764 ENST00000554962

    miRNA
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    Block miRNA regulation of human, mouse, rat SOHLH2 using miScript Target Protectors
    5 qRT-PCR Assays for microRNAs that regulate SOHLH2:
    hsa-miR-374a* hsa-miR-576-5p hsa-miR-361-5p hsa-miR-4276 hsa-miR-1305
    SwitchGear 3'UTR luciferase reporter plasmidSOHLH2 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat SOHLH2
      QuantiFast Probe-based Assays in human, mouse, rat SOHLH2

    Additional mRNA sequence: 

    AK000456.1 AY884305.1 BC025383.2 

    3 DOTS entries:

    DT.442435  DT.97790744  DT.100778418 

    Selected AceView cDNA sequences (see all 66):

    BQ950916 BC037403 BC063886 AI420335 AA861485 BU753277 BP356498 AL707893 
    BC013944 BF056183 AW961069 AK131058 BQ025312 AI004245 BM705885 AK000456 
    AI050696 BC025383 BI094447 BQ023303 BX115891 BU754454 AI096405 BI464535 

    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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    SOHLH2 expression in normal human tissues (normalized intensities)      SOHLH2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAGACACGAT
    SOHLH2 Expression
    About this image


    SOHLH2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Gonad
             Spermatogonium Type B Seminiferous Tubules
     
     Ovary (Reproductive System)    fully expand to see all 5 entries
             Primary Oocyte Primary Follicle
             oocyte   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Spermatogonium Type B Seminiferous Tubules
             sperm   
    SOHLH2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SOHLH2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.124519
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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 SOHLH2 gene from Selected species (see all 6)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sohlh25 spermatogenesis and oogenesis specific basic helix-loop-helix more   --   3 (26.53 cM) 55182028 


    ENSEMBL Gene Tree for SOHLH2 (if available)
    TreeFam Gene Tree for SOHLH2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SOHLH2 gene
    CCDC169-SOHLH22  

    SOHLH2 for paralogs           About GeneDecksing



    (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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    2 SNPs for SOHLH2    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs22969681,2,4
    ----see VAR_0382842 mis40--------
    rs128734781,2,4
    ----see VAR_0382832 mis40--------

    HapMap Linkage Disequilibrium report for SOHLH2 (36742345 - 36871979 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for SOHLH2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv899992CNV Loss21882294
    nsv899993CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SOHLH2
    DNA2.0 Custom Variant and Variant Library Synthesis for SOHLH2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    3 diseases for SOHLH2:    About MalaCards
    premature ovarian failure    infertility    ovarian cancer


    SOHLH2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SOHLH2
    Human Genome Epidemiology (HuGE) Navigator: SOHLH2 (1 document)

    Export disorders for SOHLH2 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 SOHLH2 gene, integrated from 10 sources (see all 13):
    (articles sorted by number of sources associating them with SOHLH2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging. (PubMed id 19834535)1, 4 Wheeler H.E....Kim S.K. (PLoS Genet. 2009)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    4. Transcription factors in the maintenance and survival of primordial follicles. (PubMed id 23346521)1 Lim E.J. and Choi Y. (Clin Exp Reprod Med 2012)
    5. The genetic architecture of economic and political preferences. (PubMed id 22566634)1 Benjamin D.J....Visscher P.M. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    6. Coordinated cancer germline antigen promoter and global DNA hypomethylation in ovarian cancer: association with the BORIS/CTCF expression ratio and advanced stage. (PubMed id 21296871)1 Woloszynska-Read A....Karpf A.R. (Clin. Cancer Res. 2011)
    7. Global identification of modular cullin-RING ligase substrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (Cell 2011)
    8. Candidate genes for premature ovarian failure. (PubMed id 17305537)1 Suzumori N....Rajkovic A. (Curr. Med. Chem. 2007)
    9. Genome-wide profiling of DNA methylation reveals a class of normally methylated CpG island promoters. (PubMed id 17967063)1 Shen L....Issa J.P. (PLoS Genet. 2007)
    10. 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)

    (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: 54937 HGNC: 26026 AceView: FLJ20449 Ensembl:ENSG00000120669 euGenes: HUgn54937
    ECgene: SOHLH2 H-InvDB: SOHLH2

    (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 SOHLH2 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 SOHLH2 gene:
    Search GeneIP for patents involving SOHLH2

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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