Gene Gene information from NCBI Gene database.
Entrez ID 140690
Gene name CCCTC-binding factor like
Gene symbol CTCFL
Synonyms (NCBI Gene)
BORISCT27CTCF-THMGB1L1dJ579F20.2
Chromosome 20
Chromosome location 20q13.31
Summary 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 paralo
miRNA miRNA information provided by mirtarbase database.
155
miRTarBase ID miRNA Experiments Reference
MIRT624913 hsa-miR-216a-5p HITS-CLIP 23824327
MIRT624912 hsa-miR-6890-3p HITS-CLIP 23824327
MIRT624911 hsa-miR-6736-3p HITS-CLIP 23824327
MIRT624910 hsa-miR-1304-3p HITS-CLIP 23824327
MIRT624909 hsa-miR-6787-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
35
GO ID Ontology Definition Evidence Reference
GO:0000976 Function Transcription cis-regulatory region binding IDA 18413740
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 16140944
GO:0001228 Function DNA-binding transcription activator activity, RNA polymerase II-specific IDA 16140944
GO:0003677 Function DNA binding IDA 18413740
GO:0003677 Function DNA binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607022 16234 ENSG00000124092
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8NI51
Protein name Transcriptional repressor CTCFL (Brother of the regulator of imprinted sites) (CCCTC-binding factor) (CTCF paralog) (CTCF-like protein) (Cancer/testis antigen 27) (CT27) (Zinc finger protein CTCF-T)
Protein 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
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00096 zf-C2H2 313 336 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 428 451 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 546 567 Zinc finger, C2H2 type Domain
Tissue specificity TISSUE SPECIFICITY: Testis specific. Specifically expressed in primary spermatocytes.
Sequence
MAATEISVLSEQFTKIKELELMPEKGLKEEEKDGVCREKDHRSPSELEAERTSGAFQDSV
LEEEVELVLAPSEESEKYILTLQTVHFTSEAVELQDMSLLSIQQQEGVQVVVQQPGPGLL
WLEEGPRQSLQQCVAISIQQELYSPQEMEVLQFHALEENVMVASEDSKLAVSLAETTGLI
KLEEEQEKNQLLAERTKEQLFFVETMSGDERSDEIVLTVSNSNVEEQEDQPTAGQADAEK
AKSTKNQRKTKGAKGTFHCDVCMFTSSRMSSFNRHMKTHTSEKPHLCHLCLKTFRTVTLL
RNHVNTHTGTRPYKCNDCNMAFVTSGELVRHRRYKHTHEKPFKCSMCKYASVEASKLKRH
VRSHTGERPFQCCQCSYASRDTYKLKRHMRTHSGEKPYECHICHTRFTQSGTMKIHILQK
HGENVPKYQCPHCATIIARKSDLRVHMRNLHAYSAAELKCRYCSAVFHERYALIQHQKTH
KNEKRFKCKHCSYACKQERHMTAHIRTHTGEKPFTCLSCNKCFRQKQLLNAHFRKYHDAN
FIPTVYKCSKCGKGFSRWINLHRHSEKCGSGEAKSAASGKGRRTRKRKQTILKEATKGQK
EAAKGWKEAANGDEAAAEEASTTKGEQFPGEMFPVACRETTARVKEEVDEGVTCEMLLNT
MDK
Sequence length 663
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
EBV-positive nodal T- and NK-cell lymphoma Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OBESITY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 24393203
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 24393203
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 18195709, 18355444, 21034534, 24983365, 27219508, 29212169, 30390146, 30498011
★☆☆☆☆
Found in Text Mining only
Breast Diseases Breast disease Pubtator 27219508 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 18195709, 21034534, 23019417, 24983365, 26185996, 27219508, 30498011, 37235839 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 20305816, 20876690 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 16140944, 16854382
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma Pubtator 26185996 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Endometrioid Endometrioid carcinoma Pubtator 24658009 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 23237599, 28328845 Associate
★☆☆☆☆
Found in Text Mining only