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

CTCFL Gene

protein-coding   GIFtS: 50
GCID: GC20M056064

CCCTC-binding factor (zinc finger protein)-like

 Explore 9 diseases affiliated with
CTCFL via our new
 Human Malady Compendium 
Biological research products
for CTCFL
    

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

Aliases
CCCTC-Binding Factor (Zinc Finger Protein)-Like1 2     CTCF-T2
BORIS1 2 3 5     HMG-1L12
CT271 2 3     HMGB1L12
DJ579F20.21     BORIS-Like Protein2
Brother Of The Regulator Of Imprinted Sites2 3     Putative High Mobility Group Protein 1-Like 12
Cancer/Testis Antigen 272 3     Putative High Mobility Group Protein B1-Like 12
Zinc Finger Protein CTCF-T2 3     Transcriptional Repressor CTCFL2
CTCF Paralog2 3     CCCTC-Binding Factor3
CTCF-Like Protein2 3     

External Ids:    HGNC: 162341   Entrez Gene: 1406902   Ensembl: ENSG000001240927   OMIM: 6070225   UniProtKB: Q8NI513   

Export aliases for CTCFL gene to outside databases

Previous GC identifers: GC20M055800 GC20M056710 GC20M056757 GC20M055505 GC20M052853


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

Entrez Gene summary for CTCFL:
CCCTC-binding factor (CTCF), an 11-zinc-finger factor involved in gene regulation, utilizes different zinc fingers to
bind varying DNA target sites. CTCF forms methylation-sensitive insulators that regulate X-chromosome inactivation.
This gene is a paralog of CTCF and appears to be expressed primarily in the cytoplasm of spermatocytes, unlike CTCF
which is expressed primarily in the nucleus of somatic cells. CTCF and the protein encoded by this gene are normally
expressed in a mutually exclusive pattern that correlates with resetting of methylation marks during male germ cell
differentiation. Multiple alternatively spliced transcript variants encoding different isoforms have been found for
this gene. (provided by RefSeq, Jun 2012)

UniProtKB/Swiss-Prot: CTCFL_HUMAN, Q8NI51
Function: Testis-specific DNA binding protein responsible for insulator function, nuclear architecture and
transcriptional control, which probably acts by recruiting epigenetic chromatin modifiers. Plays a key role in gene
imprinting in male germline, by participating in the establishment of differential methylation at the IGF2/H19
imprinted control region (ICR). Directly binds the unmethylated H19 ICR and recruits the PRMT7 methyltransferase,
leading to methylate histone H4 'Arg-3' to form H4R3sme2. This probably leads to recruit de novo DNA
methyltransferases at these sites (By similarity). Seems to act as tumor suppressor. In association with DNMT1 and
DNMT3B, involved in activation of BAG1 gene expression by binding to its promoter. Required for dimethylation of H3
lysine 4 (H3K4me2) of MYC and BRCA1 promoters

Gene Wiki entry for CTCFL


(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_000020.10  NC_018931.1  NT_011362.10  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CTCFL gene promoter:
         NF-1   Sp1   Brachyury   CUTL1   PPAR-gamma1   USF-1   Chx10   SEF-1 (1)   PPAR-gamma2   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CTCFL promoter sequence
   Search SABiosciences Chromatin IP Primers for CTCFL

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


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

Entrez Gene cytogenetic band: 20q13.31   Ensembl cytogenetic band:  20q13.31   HGNC cytogenetic band: 20q13.31

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

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M056064:  view genomic region     (about GC identifiers)

Start:
56,071,021 bp from pter      End:
56,100,708 bp from pter
Size:
29,688 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: CTCFL_HUMAN, Q8NI51 (See protein sequence)
Recommended Name: Transcriptional repressor CTCFL  
Size: 663 amino acids; 75747 Da
Subunit: Interacts with histones, PRMT7 and SETD1A. Interacts (via N-terminus) with BAG6/BAT3
Subcellular location: Cytoplasm. Nucleus
Developmental stage: Is up-regulated in primary spermatocytes (expression overlapping with the genome-wide erasure of
methylation) to become silenced on activation of CTCF in post-meiotic germline cells (expression corresponding to DNA
remethylation)
Secondary accessions: A1L4C6 A6XGM2 A6XGM8 A6XGN0 A6XGN1 A6XGN3 E9PBA9 Q5JUG4 Q9BZ30 Q9NQJ3
Alternative splicing: 6 isoforms:  Q8NI51-1   Q8NI51-2   Q8NI51-3   Q8NI51-4   Q8NI51-5   Q8NI51-6   

Explore the universe of human proteins at neXtProt for CTCFL: NX_Q8NI51

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8NI51

  • CTCFL Protein expression data from MOPED and PaxDb:    About this image 
    CTCFL Protein Expression
    REFSEQ proteins (16 alternative transcripts): 
    NP_001255969.1  NP_001255970.1  NP_001255971.1  NP_001255972.1  NP_001255973.1  NP_001255974.1  NP_001255975.1  NP_001255976.1  
    NP_001255977.1  NP_001255978.1  NP_001255979.1  NP_001255980.1  NP_001255981.1  NP_001255983.1  NP_001255984.1  NP_542185.2  

    ENSEMBL proteins: 
     ENSP00000243914   ENSP00000360239   ENSP00000415579   ENSP00000415329   ENSP00000392034  
     ENSP00000437999   ENSP00000413713   ENSP00000409344   ENSP00000439998   ENSP00000399061  
     ENSP00000403369  

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    Novus Biologicals CTCFL Protein
    Novus Biologicals CTCFL Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for CTCFL

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus ISS--
    GO:0005737cytoplasm IDA--

    CTCFL for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for CTCFL


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

    CTCFL for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR015880 Znf_C2H2-like
     IPR013087 Znf_C2H2/integrase_DNA-bd
     IPR007087 Znf_C2H2

    Graphical View of Domain Structure for InterPro Entry Q8NI51

    ProtoNet protein and cluster: Q8NI51

    UniProtKB/Swiss-Prot: CTCFL_HUMAN, Q8NI51
    Similarity: Belongs to the CTCF zinc-finger protein family
    Similarity: Contains 11 C2H2-type zinc fingers


    (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: CTCFL_HUMAN, Q8NI51
    Function: Testis-specific DNA binding protein responsible for insulator function, nuclear architecture and
    transcriptional control, which probably acts by recruiting epigenetic chromatin modifiers. Plays a key role in gene
    imprinting in male germline, by participating in the establishment of differential methylation at the IGF2/H19
    imprinted control region (ICR). Directly binds the unmethylated H19 ICR and recruits the PRMT7 methyltransferase,
    leading to methylate histone H4 'Arg-3' to form H4R3sme2. This probably leads to recruit de novo DNA
    methyltransferases at these sites (By similarity). Seems to act as tumor suppressor. In association with DNMT1 and
    DNMT3B, involved in activation of BAG1 gene expression by binding to its promoter. Required for dimethylation of H3
    lysine 4 (H3K4me2) of MYC and BRCA1 promoters

         Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding IDA18413740
    GO:0005515protein binding IPI18765639
    GO:0008270zinc ion binding IEA--
    GO:0042393histone binding ISS--
         
    CTCFL for ontologies           About GeneDecksing


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

    CTCFL for phenotypes           About GeneDecksing

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

    miRNA
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    8/16 QIAGEN miScript miRNA Assays for microRNAs that regulate CTCFL (see all 16):
    hsa-miR-548w hsa-miR-548j hsa-miR-579 hsa-miR-548p hsa-miR-559 hsa-miR-548h hsa-miR-548i hsa-miR-548c-5p
    SwitchGear 3'UTR luciferase reporter plasmidCTCFL 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CTCFL (see all 4)
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    Sirion Biotech Custom design and validation of potent shRNA sequences against CTCFL 

    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of CTCFL 
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    Clone
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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CTCFL


    (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
    1Chromatin Regulation / Acetylation
    Chromatin Regulation / Acetylation1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for CTCFL
        Chromatin Regulation / Acetylation



    CTCFL for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CTCFL

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/16 Interacting proteins for CTCFL (Q8NI513 ENSP000002439144) via UniProtKB, MINT, STRING, and/or I2D (see all 16)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H3AP684313, ENSP000003502754I2D: score=1 STRING: ENSP00000350275
    HIST1H3BP684313I2D: score=1 
    HIST1H3CP684313I2D: score=1 
    HIST1H3DP684313I2D: score=1 
    HIST1H3EP684313I2D: score=1 
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006349regulation of gene expression by genetic imprinting ISS--
    GO:0006351transcription, DNA-dependent IEA--
    GO:0007049cell cycle IEA--
    GO:0010628positive regulation of gene expression IDA18413740
    GO:0016571histone methylation ISS--

    CTCFL 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

    CTCFL for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CTCFL
    1 Novoseek chemical compound relationship for CTCFL gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    5-aza-2'deoxycytidine 77.9 18 16140943 (2), 18095639 (1), 17260018 (1), 20305816 (1) (see all 5)

    Search CenterWatch for drugs/clinical trials and news about CTCFL 

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    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 CTCFL gene (16 alternative transcripts): 
    NM_001269040.1  NM_001269041.1  NM_001269042.1  NM_001269043.1  NM_001269044.1  NM_001269045.1  NM_001269046.1  NM_001269047.1  
    NM_001269048.1  NM_001269049.1  NM_001269050.1  NM_001269051.1  NM_001269052.1  NM_001269054.1  NM_001269055.1  NM_080618.3  

    Unigene Cluster for CTCFL:

    CCCTC-binding factor (zinc finger protein)-like
    Hs.131543  [show with all ESTs]
    Unigene Representative Sequence: DQ778110
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000243914(uc002xym.2 uc021wff.1 uc021wfg.1) ENST00000371196(uc010gix.1 uc010gjc.1 uc010gjd.1)
    ENST00000481655 ENST00000423479(uc010giu.3 uc010giw.1) ENST00000429804(uc010gjb.1 uc010gja.1)
    ENST00000433949(uc010gje.3 uc021wfe.1 uc010gjf.3) ENST00000502686(uc010giv.3 uc010gjg.3)
    ENST00000422109 ENST00000432255(uc010gjh.2 uc010gjk.1) ENST00000539382(uc010gji.2)
    ENST00000422869(uc010gjj.2 uc010gjl.1) ENST00000426658

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    8/16 QIAGEN miScript miRNA Assays for microRNAs that regulate CTCFL (see all 16):
    hsa-miR-548w hsa-miR-548j hsa-miR-579 hsa-miR-548p hsa-miR-559 hsa-miR-548h hsa-miR-548i hsa-miR-548c-5p
    SwitchGear 3'UTR luciferase reporter plasmidCTCFL 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CTCFL (see all 4)
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    Sirion Biotech Custom design and validation of potent shRNA sequences against CTCFL 
    Clone
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    Additional cDNA sequence: 

    AF336042.1 AK128070.1 AK313990.1 AY071919.1 BC060763.1 BC130486.1 BC137482.1 BC137483.1 
    DQ294738.1 DQ778108.1 DQ778109.1 DQ778110.1 DQ778111.1 DQ778112.1 DQ778113.1 DQ778114.1 
    DQ778115.2 DQ778116.2 DQ778117.2 DQ778118.2 DQ778119.2 DQ778120.2 DQ778121.3 DQ778122.2 
    DQ778123.2 DQ778124.2 DQ778125.2 DQ778126.2 DQ778127.2 DQ778128.2 DQ778129.2 DQ778130.1 
    DQ778131.1 NR_072975.1 

    6 DOTS entries:

    DT.101979256  DT.303300  DT.99957215  DT.100696089  DT.97768285  DT.100052897 

    24/27 AceView cDNA sequences (see all 27):

    BX282332 AY071919 NM_080618 AI024580 BX094837 AF336042 BC060763 BU629814 
    BU170289 AI024578 BG687495 AK128070 AL844306 AL732020 BG527694 AL844477 
    BG722482 AL844304 AL049118 AL844280 BQ429595 AL844410 BF209606 AW243377 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for CTCFL    About this scheme

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


    ECgene alternative splicing isoforms for CTCFL

    (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

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

    CTCFL 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)
    Spinal CordSpinal Ventral ColumnsVentral Spinal Cord Progenitor CellsMotor Neurons
    Neural TubeMetencephalonNeural Tube
    Neural TubeTelencephalonNeural Tube
    Spinal CordSpinal Ventral ColumnsSpinal Cord
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

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

    SOURCE GeneReport for Unigene cluster: Hs.131543

    UniProtKB/Swiss-Prot: CTCFL_HUMAN, Q8NI51
    Tissue specificity: Testis specific. Specifically expressed in primary spermatocytes

        SABiosciences Custom PCR Arrays for CTCFL
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CTCFL
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CTCFL

    (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 animals.

    Orthologs for CTCFL gene from 2/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    lizard
    (Anolis carolinensis)
    Reptilia CTCFL6
    --
    65(a)
    1 ↔ 1
    GL343217.1(1034665-1047855)
    fruit fly
    (Drosophila melanogaster)
    Insecta CTCF6
    CTCF
    21(a)
    1 → many
    3L(7346678-7349813)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CTCFL gene
    CTCF2  HINFP2  ZFP642  ZNF3112  
    18/147 SIMAP similar genes for CTCFL using alignment to 6 protein entries:     CTCFL_HUMAN (see all proteins) (see all similar genes):
    ZNF78L1    ZNF55    ZFAT    ZNF    KLF13    ZNF705A
    A-328A3.4    Nbla00121    PLZF    ZFP41    ZNF410    ZNF705E
    CTCF    ZNF324    ZNF770    ZNF436    ZNF501    ZNF323

    CTCFL for paralogs           About GeneDecksing



    (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

    10/666 NCBI SNPs in CTCFL are shown (see all 666    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1913516591,2
    --56070566(+) AGTCAA/CGCACG 1 -- ds50010--------
    rs1843417711,2
    --56070567(+) GTCACA/GCACGT 1 -- ds50010--------
    rs1886486771,2
    --56070650(+) TGCAAA/CTATTT 1 -- ds50010--------
    rs1811314951,2
    --56070698(+) GAGTCA/CCACTC 1 -- ds50010--------
    rs116998781,2
    H--56070713(+) gcccaA/Ggctgg 1 -- ds50010--------
    rs1853019821,2
    --56070751(+) GCAACC/TTCCGC 1 -- ds50010--------
    rs1460800341,2
    --56070762(+) CTCCCA/GGGTTC 1 -- ds50010--------
    rs1898776011,2
    --56070783(+) CCTGCC/TTCCGC 1 -- ds50010--------
    rs1824500901,2
    --56070787(+) CCTCCC/GCCCCC 1 -- ds50010--------
    rs1861966561,2
    --56070920(+) TGCCTC/TGGCCT 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for CTCFL (56071021 - 56100708 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for CTCFL
         1 CNV: 73543

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    CTCFL for disorders           About GeneDecksing

    OMIM gene information: 607022    OMIM disorders: --

    9 diseases for CTCFL:    About MalaCards
    testicular cancer    ovarian cancer    gastric cancer    breast carcinoma
    lung cancer    breast cancer    melanoma    carcinoma
    colon carcinoma

    4 Novoseek disease relationships for CTCFL gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    testicular cancer 48.6 1 17363524 (1)
    cancer 17.8 17 12191639 (3), 18095639 (2), 17363524 (2), 17962299 (2) (see all 6)
    cancer lung 11.7 9 16140944 (5), 17260018 (3)
    tumors 5.38 12 17062669 (2), 18095639 (1), 20305816 (1)

    Human Genome Epidemiology (HuGE) Navigator: CTCFL (2 documents)

    Export disorders for CTCFL 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 CTCFL gene, integrated from 9 sources (see all 44):
    (articles sorted by number of sources associating them with CTCFL)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Expression of the CTCF-paralogous cancer-testis gene, brother of the regulator of imprinted sites (BORIS), is regulated by three alternative promoters modulated by CpG methylation and by CTCF and p53 transcription factors. (PubMed id 17962299)1, 2, 9 Renaud S....Lobanenkov V. (2007)
    2. The novel BORIS + CTCF gene family is uniquely involved in the epigenetics of normal biology and cancer. (PubMed id 12191639)1, 2, 9 Klenova E.M.... Lobanenkov V.V. (2002)
    3. BORIS, a novel male germ-line-specific protein associated with epigenetic reprogramming events, shares the same 11-zinc-finger domain with CTCF, the insulator protein involved in reading imprinting marks in the soma. (PubMed id 12011441)1, 2, 9 Loukinov D.I.... Lobanenkov V.V. (2002)
    4. The testis-specific factor CTCFL cooperates with the protein methyltransferase PRMT7 in H19 imprinting control region methylation. (PubMed id 17048991)1, 2, 9 Jelinic P....Shaw P. (2006)
    5. DNA methyltransferase 1 and 3B activate BAG-1 expression via recruitment of CTCFL/BORIS and modulation of promoter histone methylation. (PubMed id 18413740)1, 2 Sun L....Gius D. (2008)
    6. BAT3 and SET1A form a complex with CTCFL/BORIS to modulate H3K4 histone dimethylation and gene expression. (PubMed id 18765639)1, 2 Nguyen P.... Gius D. (2008)
    7. 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)
    8. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
    9. BORIS (CTCFL) is not expressed in most human breast c ell lines and high grade breast carcinomas. (PubMed id 20305816)1, 9 Hines W.C....Yaswen P. (2010)
    10. BORIS, a paralogue of the transcription factor, CTCF, is aberrantly expressed in breast tumours. (PubMed id 18195709)1, 9 D'Arcy V....Klenova E. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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
    Entrez Gene: 140690 HGNC: 16234 AceView: CTCFL Ensembl:ENSG00000124092 euGenes: HUgn140690
    ECgene: CTCFL H-InvDB: CTCFL

    (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 CTCFL 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 CTCFL gene:
    Search GeneIP for patents involving CTCFL

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



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