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Aliases for CTCFL Gene

Aliases for CTCFL Gene

  • CCCTC-Binding Factor Like 2 3
  • CCCTC-Binding Factor (Zinc Finger Protein)-Like 2 3 5
  • Cancer/Testis Antigen 27 2 3 4
  • Brother Of The Regulator Of Imprinted Sites 3 4
  • Zinc Finger Protein CTCF-T 3 4
  • CTCF-Like Protein 3 4
  • CTCF Paralog 3 4
  • BORIS 3 4
  • CT27 3 4
  • Putative High Mobility Group Protein B1-Like 1 3
  • Putative High Mobility Group Protein 1-Like 1 3
  • CCCTC-Binding Factor 4
  • BORIS-Like Protein 3
  • DJ579F20.2 3
  • HMG-1L1 3
  • HMGB1L1 3
  • CTCF-T 3

External Ids for CTCFL Gene

Previous GeneCards Identifiers for CTCFL Gene

  • GC20M055800
  • GC20M056710
  • GC20M056757
  • GC20M055505
  • GC20M056064
  • GC20M052853

Summaries for CTCFL Gene

Entrez Gene Summary for CTCFL Gene

  • 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]

GeneCards Summary for CTCFL Gene

CTCFL (CCCTC-Binding Factor Like) is a Protein Coding gene. Diseases associated with CTCFL include silver-russell syndrome. Among its related pathways are Chromatin Regulation / Acetylation. GO annotations related to this gene include nucleic acid binding and RNA polymerase II core promoter proximal region sequence-specific DNA binding. An important paralog of this gene is RREB1.

UniProtKB/Swiss-Prot for CTCFL Gene

  • 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CTCFL Gene

Genomics for CTCFL Gene

Regulatory Elements for CTCFL Gene

Enhancers for CTCFL Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CTCFL on UCSC Golden Path with GeneCards custom track

Promoters for CTCFL Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CTCFL on UCSC Golden Path with GeneCards custom track

Genomic Location for CTCFL Gene

Chromosome:
20
Start:
57,495,965 bp from pter
End:
57,525,652 bp from pter
Size:
29,688 bases
Orientation:
Minus strand

Genomic View for CTCFL Gene

Genes around CTCFL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CTCFL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CTCFL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CTCFL Gene

Proteins for CTCFL Gene

  • Protein details for CTCFL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NI51-CTCFL_HUMAN
    Recommended name:
    Transcriptional repressor CTCFL
    Protein Accession:
    Q8NI51
    Secondary Accessions:
    • A0S6W1
    • A1L4C6
    • A6XGL8
    • A6XGM2
    • A6XGM3
    • A6XGM8
    • A6XGN0
    • A6XGN1
    • A6XGN2
    • A6XGN3
    • A6XGN4
    • E7EQ27
    • E7EUE3
    • E9PBA9
    • Q5JUG4
    • Q9BZ30
    • Q9NQJ3

    Protein attributes for CTCFL Gene

    Size:
    663 amino acids
    Molecular mass:
    75747 Da
    Quaternary structure:
    • Interacts with histones, PRMT7 and SETD1A. Interacts (via N-terminus) with BAG6/BAT3.

    Alternative splice isoforms for CTCFL Gene

neXtProt entry for CTCFL Gene

Proteomics data for CTCFL Gene at MOPED

Post-translational modifications for CTCFL Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CTCFL Gene

Domains & Families for CTCFL Gene

Gene Families for CTCFL Gene

Protein Domains for CTCFL Gene

Graphical View of Domain Structure for InterPro Entry

Q8NI51

UniProtKB/Swiss-Prot:

CTCFL_HUMAN :
  • Belongs to the CTCF zinc-finger protein family.
  • Contains 11 C2H2-type zinc fingers.
Family:
  • Belongs to the CTCF zinc-finger protein family.
Similarity:
  • Contains 11 C2H2-type zinc fingers.
genes like me logo Genes that share domains with CTCFL: view

Function for CTCFL Gene

Molecular function for CTCFL Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for CTCFL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042393 histone binding ISS --
GO:0043565 sequence-specific DNA binding ISS --
GO:0044212 transcription regulatory region DNA binding IDA 18413740
genes like me logo Genes that share ontologies with CTCFL: view
genes like me logo Genes that share phenotypes with CTCFL: view

Animal Models for CTCFL Gene

MGI Knock Outs for CTCFL:

Animal Model Products

Targeted motifs for CTCFL Gene
HOMER Transcription Factor Regulatory Elements motif CTCFL
  • Consensus sequence: CNNBRGCGCCCCCTGSTGGC Submotif: canonical Cell Type: K562 GEO ID: GSE32465

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology and Transcription Factor Targets for CTCFL Gene

Localization for CTCFL Gene

Subcellular locations from UniProtKB/Swiss-Prot for CTCFL Gene

Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CTCFL Gene COMPARTMENTS Subcellular localization image for CTCFL gene
Compartment Confidence
nucleus 5
cytosol 2
endosome 1

No data available for Gene Ontology (GO) - Cellular Components for CTCFL Gene

Pathways & Interactions for CTCFL Gene

genes like me logo Genes that share pathways with CTCFL: view

Pathways by source for CTCFL Gene

1 Cell Signaling Technology pathway for CTCFL Gene

Gene Ontology (GO) - Biological Process for CTCFL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010628 positive regulation of gene expression IDA 18413740
GO:0043046 DNA methylation involved in gamete generation ISS --
GO:0045893 positive regulation of transcription, DNA-templated IDA 18413740
genes like me logo Genes that share ontologies with CTCFL: view

No data available for SIGNOR curated interactions for CTCFL Gene

Drugs & Compounds for CTCFL Gene

(1) Additional Compounds for CTCFL Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CTCFL: view

Transcripts for CTCFL Gene

Unigene Clusters for CTCFL Gene

CCCTC-binding factor (zinc finger protein)-like:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CTCFL Gene

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

Relevant External Links for CTCFL Gene

GeneLoc Exon Structure for
CTCFL
ECgene alternative splicing isoforms for
CTCFL

Expression for CTCFL Gene

mRNA expression in normal human tissues for CTCFL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CTCFL Gene

This gene is overexpressed in Testis (x42.6).

Protein differential expression in normal tissues from HIPED for CTCFL Gene

This gene is overexpressed in Lung (14.2), Monocytes (14.1), Tlymphocyte (13.5), and CD4 Tcells (11.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for CTCFL Gene



SOURCE GeneReport for Unigene cluster for CTCFL Gene Hs.131543

mRNA Expression by UniProt/SwissProt for CTCFL Gene

Q8NI51-CTCFL_HUMAN
Tissue specificity: Testis specific. Specifically expressed in primary spermatocytes.
genes like me logo Genes that share expression patterns with CTCFL: view

Primer Products

In Situ Assay Products

No data available for Protein tissue co-expression partners for CTCFL Gene

Orthologs for CTCFL Gene

This gene was present in the common ancestor of animals.

Orthologs for CTCFL Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CTCFL 35
  • 76.28 (n)
  • 66.94 (a)
BORIS 36
  • 66 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CTCFL 35
  • 82.1 (n)
  • 77.3 (a)
CTCFL 36
  • 71 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ctcfl 35
  • 68.75 (n)
  • 60.83 (a)
Ctcfl 16
Ctcfl 36
  • 58 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CTCFL 35
  • 98.62 (n)
  • 97.71 (a)
CTCFL 36
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CTCFL 36
  • 59 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CTCFL 36
  • 59 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100360757 35
  • 67.56 (n)
  • 60.98 (a)
lizard
(Anolis carolinensis)
Reptilia CTCFL 36
  • 53 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii zgc:112083 36
  • 18 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CTCF 36
  • 24 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2315 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8793 36
  • 20 (a)
OneToOne
Species with no ortholog for CTCFL:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CTCFL Gene

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

Paralogs for CTCFL Gene

Paralogs for CTCFL Gene

(472) SIMAP similar genes for CTCFL Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with CTCFL: view

Variants for CTCFL Gene

Sequence variations from dbSNP and Humsavar for CTCFL Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs6070128 - 57,524,058(+) ACGCT(C/G)GGCCT intron-variant, nc-transcript-variant, reference, missense
rs6025606 - 57,523,677(+) TCCAG(C/T)AGTTT intron-variant, nc-transcript-variant, reference, missense
rs6070122 - 57,508,707(+) CTTCT(C/G)TCGGA nc-transcript-variant, reference, missense
rs6092491 - 57,512,740(+) AGTTG(C/T)GCATA intron-variant, nc-transcript-variant, reference, missense
rs717798 -- 57,519,762(+) CATTC(C/T)CTGTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CTCFL Gene

Variant ID Type Subtype PubMed ID
esv2666374 CNV Deletion 23128226
nsv3425 CNV Insertion 18451855
nsv828758 CNV Gain 20364138
esv25156 CNV Gain 19812545

Variation tolerance for CTCFL Gene

Residual Variation Intolerance Score: 55.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.78; 58.10% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CTCFL Gene

HapMap Linkage Disequilibrium report
CTCFL
Human Gene Mutation Database (HGMD)
CTCFL

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CTCFL Gene

Disorders for CTCFL Gene

MalaCards: The human disease database

(1) MalaCards diseases for CTCFL Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
silver-russell syndrome
  • silver russell dwarfism
- elite association - COSMIC cancer census association via MalaCards
Search CTCFL in MalaCards View complete list of genes associated with diseases

Relevant External Links for CTCFL

Genetic Association Database (GAD)
CTCFL
Human Genome Epidemiology (HuGE) Navigator
CTCFL
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CTCFL
genes like me logo Genes that share disorders with CTCFL: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CTCFL Gene

Publications for CTCFL Gene

  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. (PMID: 17962299) Renaud S. … Lobanenkov V. (Nucleic Acids Res. 2007) 3 4 23 67
  2. BORIS (CTCFL) is not expressed in most human breast cell lines and high grade breast carcinomas. (PMID: 20305816) Hines W.C. … Yaswen P. (PLoS ONE 2010) 3 23
  3. BORIS, a paralogue of the transcription factor, CTCF, is aberrantly expressed in breast tumours. (PMID: 18195709) D'Arcy V. … Klenova E. (Br. J. Cancer 2008) 3 23
  4. CTCFL/BORIS is a methylation-independent DNA-binding protein that preferentially binds to the paternal H19 differentially methylated region. (PMID: 18632606) Nguyen P. … Gius D. (Cancer Res. 2008) 3 23
  5. Dynamic transcriptional regulatory complexes including BORIS, CTCF and Sp1 modulate NY-ESO-1 expression in lung cancer cells. (PMID: 17260018) Kang Y. … Schrump D.S. (Oncogene 2007) 3 23

Products for CTCFL Gene

Sources for CTCFL Gene

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