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TRERF1 Gene

protein-coding   GIFtS: 55
GCID: GC06M042192

Transcriptional Regulating Factor 1

(Previous name: breast cancer anti-estrogen resistance 2)
(Previous symbol: BCAR2)
  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
Transcriptional Regulating Factor 11 2     HSA2772762
Breast Cancer Anti-Estrogen Resistance 21 2 3     TReP-1322
BCAR21 2 3     dJ139D8.52
TREP1322 3 5     rapa-12
Transcriptional-Regulating Protein 1322 3     rapa-22
Zinc Finger Protein Rapa2 3     Transcriptional Regulating Protein 1322
Zinc Finger Transcription Factor TReP-1322 3     Transcriptional-Regulating Factor 12
RAPA2 3     

External Ids:    HGNC: 182731   Entrez Gene: 558092   Ensembl: ENSG000001244967   OMIM: 6103225   UniProtKB: Q96PN73   

Export aliases for TRERF1 gene to outside databases

Previous GC identifers: GC06M042242 GC06M042303 GC06M041910


(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 TRERF1 Gene:
This gene encodes a zinc-finger transcriptional regulating protein which interacts with CBP/p300 to regulate the
human gene CYP11A1. (provided by RefSeq, Jul 2008)

GeneCards Summary for TRERF1 Gene:
TRERF1 (transcriptional regulating factor 1) is a protein-coding gene. Diseases associated with TRERF1 include estrogen resistance, and lymphocele. GO annotations related to this gene include transcription factor binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is ELMSAN1.

UniProtKB/Swiss-Prot: TREF1_HUMAN, Q96PN7
Function: Activates transcription of CYP11A1. Interaction with CREBBP and EP300 results in a synergistic
transcriptional activation of CYP11A1

Gene Wiki entry for TRERF1 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)
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RefSeq DNA sequence:
NC_000006.12  NT_007592.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TRERF1 gene promoter:
         p53   AP-1   ATF-2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTRERF1 promoter sequence
   Search Chromatin IP Primers for TRERF1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TRERF1


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

Entrez Gene cytogenetic band: 6p21.1-p12.1   Ensembl cytogenetic band:  6p21.1   HGNC cytogenetic band: 6p21.1-p12.1

TRERF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TRERF1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M042192:  view genomic region     (about GC identifiers)

Start:
42,192,669 bp from pter      End:
42,419,789 bp from pter
Size:
227,121 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: TREF1_HUMAN, Q96PN7 (See protein sequence)
Recommended Name: Transcriptional-regulating factor 1  
Size: 1200 amino acids; 132256 Da
Subunit: Interacts with CREBBP and EP300
Sequence caution: Sequence=BAA92082.1; Type=Erroneous initiation;
Secondary accessions: Q05GC6 Q7Z6T2 Q7Z6T3 Q9NQ72 Q9NQ73 Q9NUN9
Alternative splicing: 5 isoforms:  Q96PN7-1   Q96PN7-2   Q96PN7-3   Q96PN7-4   Q96PN7-5   (Gene prediction based on EST data)

Explore the universe of human proteins at neXtProt for TRERF1: NX_Q96PN7

Explore proteomics data for TRERF1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys72, Lys812
  • Modification sites at PhosphoSitePlus

  • See TRERF1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_277037.1  
    ENSEMBL proteins: 
     ENSP00000362013   ENSP00000339438   ENSP00000346285   ENSP00000439689   ENSP00000362008  

    TRERF1 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for TRERF1
    OriGene Custom MassSpec
    OriGene Custom Protein Services for TRERF1
    GenScript Custom Purified and Recombinant Proteins Services for TRERF1
    Novus Biologicals TRERF1 Protein
    Novus Biologicals TRERF1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TRERF1

    TRERF1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Abcam antibodies for TRERF1
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    ThermoFisher Antibodies for TRERF1
    LSBio Antibodies in human, mouse, rat for TRERF1

    TRERF1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for TRERF1
    Cloud-Clone Corp. CLIAs for TRERF1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 6):
     IPR000949 ELM2_dom
     IPR015880 Znf_C2H2-like
     IPR017884 SANT_dom
     IPR001005 SANT/Myb
     IPR009057 Homeodomain-like

    Graphical View of Domain Structure for InterPro Entry Q96PN7

    ProtoNet protein and cluster: Q96PN7

    UniProtKB/Swiss-Prot: TREF1_HUMAN, Q96PN7
    Similarity: Contains 3 C2H2-type zinc fingers
    Similarity: Contains 1 ELM2 domain
    Similarity: Contains 1 SANT domain


    TRERF1 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: TREF1_HUMAN, Q96PN7
    Function: Activates transcription of CYP11A1. Interaction with CREBBP and EP300 results in a synergistic
    transcriptional activation of CYP11A1

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001104RNA polymerase II transcription cofactor activity NAS11349124
    GO:0003677DNA binding ----
    GO:0003682chromatin binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity IDA11349124
    GO:0008134transcription factor binding IPI11349124
         
    TRERF1 for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for TRERF1:
     Decreased influenza A H1N1 (A/  Decreased influenza A H1N1 (A/  Decreased influenza A/WSN/33 r  Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TRERF1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TRERF1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TRERF1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TRERF1

    miRNA
    Products:
        
    miRTarBase miRNAs that target TRERF1:
    hsa-mir-335-5p (MIRT018109), hsa-mir-342-3p (MIRT043712), hsa-mir-324-5p (MIRT043205), hsa-mir-101-3p (MIRT027377), hsa-mir-30b-5p (MIRT023419)

    Block miRNA regulation of human, mouse, rat TRERF1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TRERF1 (see all 126):
    hsa-miR-323-3p hsa-miR-520f hsa-miR-607 hsa-miR-520e hsa-miR-3146 hsa-miR-300 hsa-miR-128 hsa-miR-374a
    SwitchGear 3'UTR luciferase reporter plasmidTRERF1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for TRERF1
    Predesigned siRNA for gene silencing in human, mouse, rat TRERF1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for TRERF1

    Clone
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    OriGene clones in human, mouse for TRERF1 (see all 8)
    OriGene ORF clones in mouse, rat for TRERF1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: TRERF1 (NM_033502)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TRERF1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TRERF1

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for TRERF1
    Browse ESI BIO Cell Lines and PureStem Progenitors for TRERF1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TRERF1


    (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
    TREF1_HUMAN, Q96PN7: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--

    TRERF1 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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        Pathway & Disease-focused RT2 Profiler PCR Array including TRERF1: 
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for TRERF1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    Selected Interacting proteins for TRERF1 (Q96PN73 ENSP000003620134) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CREBBPQ927933, ENSP000002623674I2D: score=2 STRING: ENSP00000262367
    NR5A1Q132853, ENSP000003626904I2D: score=2 STRING: ENSP00000362690
    EP300Q094723, ENSP000002632534I2D: score=2 STRING: ENSP00000263253
    DNTTIP1ENSP000003617054STRING: ENSP00000361705
    HDAC1ENSP000003626494STRING: ENSP00000362649
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006357regulation of transcription from RNA polymerase II promoter NAS11349124
    GO:0006366transcription from RNA polymerase II promoter NAS11349124
    GO:0006694steroid biosynthetic process NAS11349124
    GO:0006707cholesterol catabolic process NAS11349124
    GO:0007275multicellular organismal development NAS11349124

    TRERF1 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 TRERF1 (TREF1)

    1 Novoseek inferred chemical compound relationship for TRERF1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    steroid 48.4 1 12556907 (1)



    TRERF1 for compounds           About GeneDecksing



    (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 TRERF1 gene (3 alternative transcripts): 
    NM_033502.2  NM_018415.1  NM_033501.1  

    Unigene Cluster for TRERF1:

    Transcriptional regulating factor 1
    Hs.485392  [show with all ESTs]
    Unigene Representative Sequence: AM404182
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000372922 ENST00000340840 ENST00000354325 ENST00000541110(uc003osd.2 uc003ose.2)
    ENST00000372917(uc011duq.1 uc003osb.2 uc003osc.2 uc010jxu.1)

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat TRERF1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TRERF1 (see all 126):
    hsa-miR-323-3p hsa-miR-520f hsa-miR-607 hsa-miR-520e hsa-miR-3146 hsa-miR-300 hsa-miR-128 hsa-miR-374a
    SwitchGear 3'UTR luciferase reporter plasmidTRERF1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for TRERF1
    Predesigned siRNA for gene silencing in human, mouse, rat TRERF1
    Clone
    Products:
         
    OriGene clones in human, mouse for TRERF1 (see all 8)
    OriGene ORF clones in mouse, rat for TRERF1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: TRERF1 (NM_033502)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TRERF1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TRERF1
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for TRERF1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TRERF1
      QuantiTect SYBR Green Assays in human, mouse, rat TRERF1
      QuantiFast Probe-based Assays in human, mouse, rat TRERF1

    Additional mRNA sequence: 

    AF111801.1 AF297872.1 AJ277275.1 AJ277276.1 AK002096.1 AK127493.1 AK308473.1 AM404182.1 
    AM404183.1 AM404259.1 

    10 DOTS entries:

    DT.102823818  DT.100757479  DT.306866  DT.95274464  DT.100707313  DT.102823817  DT.121343431  DT.427964 
    DT.97837632  DT.99970910 

    Selected AceView cDNA sequences (see all 96):

    NM_033502 BQ775152 BE645262 AW117866 AI299636 BX952047 BX489946 AA878783 
    AA926899 BM784836 AW518695 NM_033501 BM770293 BM701209 AA811416 AF297872 
    BU859373 BX508943 AK127493 BF724270 AW614465 AW614455 BM770778 NM_018415 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for TRERF1 (see all 7)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c · 12d ^ 13a · 13b
    SP1:                                                                                                                        
    SP2:                    -                                                                                                   
    SP3:                                                                                                                        
    SP4:                                                                                      -                 -               
    SP5:                                                                                                                        


    ECgene alternative splicing isoforms for TRERF1

    (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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    TRERF1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    TRERF1 Expression
    About this image


    TRERF1 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
     
     Endothelium (Cardiovascular System)
             Mature Endothelial Cells Blood Brain Barrier
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
     
     Brain (Nervous System)
             Mature Endothelial Cells Blood Brain Barrier
    TRERF1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TRERF1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.485392

    UniProtKB/Swiss-Prot: TREF1_HUMAN, Q96PN7
    Tissue specificity: Highest expression was seen in thymus, testis and adrenal cortex, expressed also in the
    adrenal medulla, thyroid, and stomach. Highly expressed in steroidogenic JEG-3 and MCF-7 cells, low expression
    was seen in non-steroidogenic Hep-G2 and HEK293 cells

        Pathway & Disease-focused RT2 Profiler PCR Array including TRERF1: 
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for TRERF1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TRERF1
    QuantiTect SYBR Green Assays in human, mouse, rat TRERF1
    QuantiFast Probe-based Assays in human, mouse, rat TRERF1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TRERF1

    (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 animals.

    Orthologs for TRERF1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Trerf11 , 5 transcriptional regulating factor 11, 5 87.41(n)1
    89.03(a)1
      17 (22.91 cM)5
    2248291  NM_172622.21  NP_766210.11 
     471409425 
    chicken
    (Gallus gallus)
    Aves TRERF11 transcriptional regulating factor 1 68.41(n)
    68.09(a)
      421386  XM_419445.4  XP_419445.3 
    lizard
    (Anolis carolinensis)
    Reptilia TRERF16
    transcriptional regulating factor 1
    55(a)
    1 ↔ 1
    1(236769289-236852908)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia trerf11 transcriptional regulating factor 1 60.16(n)
    54.62(a)
      100491272  XM_002934680.2  XP_002934726.2 
    zebrafish
    (Danio rerio)
    Actinopterygii BX000363.26
    Uncharacterized protein
    27(a)
    1 ↔ 1
    17(5989263-6031335) ENSDARG00000088631
    fruit fly
    (Drosophila melanogaster)
    Insecta CG167796
    --
    6(a)
    1 → many
    3R(5290000-5319399)
    worm
    (Caenorhabditis elegans)
    Secernentea saeg-16
    Protein SAEG-1, isoform a
    14(a)
    1 → many
    V(10852522-10865792) WBGene00010012


    ENSEMBL Gene Tree for TRERF1 (if available)
    TreeFam Gene Tree for TRERF1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TRERF1 gene
    ELMSAN12  ZNF5412  
    1 SIMAP similar gene for TRERF1 using alignment to 2 protein entries:     TREF1_HUMAN (see all proteins):
    BCAR2

    TRERF1 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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    Selected SNPs for TRERF1 (see all 4713)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs673122321,2
    C--41976218(+) TTTTT-/TT/   
       TTTTT
    GAACA
    1 -- int11NA 2
    rs1480712001,2
    --42192170(+) TGACCC/TGTGAG 1 -- ds50010--------
    rs77520721,2
    C,F--42192192(+) cccagA/Gagtgg 1 -- ds50015Minor allele frequency- G:0.44NA WA CSA 9
    rs106759441,2
    C--42192271(+) aaaaaAAAAA/
            
    GTAAA
    1 -- ds50011Minor allele frequency- -:0.50NA 2
    rs1460150811,2
    --42192283(+) TTACTC/TACTCA 1 -- ds50010--------
    rs1853672001,2
    --42192316(+) ATGCAA/CATAAA 1 -- ds50010--------
    rs1897294871,2
    --42192322(+) ATAAAA/TCGGGG 1 -- ds50010--------
    rs1387155511,2
    C--42192330(+) GGGTGG/TACTTA 1 -- ds50010--------
    rs757262211,2
    F--42192343(+) ACTTTG/ATGGAG 1 -- ds50012Minor allele frequency- A:0.17CSA WA 119
    rs1427612631,2
    --42192369(+) ACCTGC/TATGTC 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for TRERF1 (42192669 - 42419789 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for TRERF1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2731986CNV Deletion23290073
    esv2226832CNV Deletion18987734
    esv2662164CNV Deletion23128226
    esv2731987CNV Deletion23290073
    esv2731985CNV Deletion23290073
    nsv5279CNV Loss18451855
    nsv830649CNV Loss17160897

    Human Gene Mutation Database (HGMD): TRERF1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TRERF1
    DNA2.0 Custom Variant and Variant Library Synthesis for TRERF1

    (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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    OMIM gene information: 610322    OMIM disorders: --

    8 diseases for TRERF1:    
    About MalaCards
    estrogen resistance    lymphocele    swayback    conn's syndrome
    breast cancer    brain cancer    thyroiditis    endotheliitis

    1 disease from the University of Copenhagen DISEASES database for TRERF1:
    Swayback

    TRERF1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): TRERF1
    Human Genome Epidemiology (HuGE) Navigator: TRERF1 (5 documents)

    Export disorders for TRERF1 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 TRERF1 gene, integrated from 10 sources (see all 34):
    (articles sorted by number of sources associating them with TRERF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel zinc finger protein TReP-132 interacts with CBP/p300 to regulate human CYP11A1 gene expression. (PubMed id 11349124)1, 2, 3, 9 Gizard F.... Hum D.W. (J. Biol. Chem. 2001)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)
    6. TReP-132 controls cell proliferation by regulating the expression of the cyclin-dependent kinase inhibitors p21WAF1/Cip1 and p27Kip1. (PubMed id 15899840)1, 9 Gizard F....Hum D.W. (Mol. Cell. Biol. 2005)
    7. The transcriptional regulating protein of 132 kDa (TReP-132) enhances P450scc gene transcription through interaction with steroidogenic factor-1 in human adrenal cells. (PubMed id 12101186)1, 9 Gizard F....Hum D.W. (J. Biol. Chem. 2002)
    8. The transcriptional regulating protein of 132 kDa (TReP-132) differentially influences steroidogenic pathways in human adrenal NCI-H295 cells. (PubMed id 15072559)1, 9 Gizard F....Hum D.W. (J. Mol. Endocrinol. 2004)
    9. Function of the transcriptional regulating protein of 132 kDa (TReP-132) on human P450scc gene expression. (PubMed id 12530663)1, 9 Gizard F....Hum D.W. (Endocr. Res. 2002)
    10. The SOX2-interactome in brain cancer cells identifies the requirement of MSI2 and USP9X for the growth of brain tumor cells. (PubMed id 23667531)1 Cox J.L....Rizzino A. (PLoS ONE 2013)

    (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)
    About This Section

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    Entrez Gene: 55809 HGNC: 18273 AceView: TRERF1 Ensembl:ENSG00000124496 euGenes: HUgn55809
    ECgene: TRERF1 H-InvDB: TRERF1

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for TRERF1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for TRERF1 gene:
    Search GeneIP for patents involving TRERF1

    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
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