Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
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

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Show/Hide all (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
MIRT624908	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT624907	hsa-miR-1976	HITS-CLIP	23824327
MIRT624906	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT624905	hsa-miR-3120-5p	HITS-CLIP	23824327
MIRT624903	hsa-miR-4326	HITS-CLIP	23824327
MIRT624904	hsa-miR-6888-3p	HITS-CLIP	23824327
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
MIRT624908	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT624907	hsa-miR-1976	HITS-CLIP	23824327
MIRT624906	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT624905	hsa-miR-3120-5p	HITS-CLIP	23824327
MIRT630980	hsa-miR-891a-3p	HITS-CLIP	23824327
MIRT624903	hsa-miR-4326	HITS-CLIP	23824327
MIRT624904	hsa-miR-6888-3p	HITS-CLIP	23824327
MIRT629165	hsa-miR-548a-5p	HITS-CLIP	23824327
MIRT629164	hsa-miR-548ab	HITS-CLIP	23824327
MIRT629163	hsa-miR-548ad-5p	HITS-CLIP	23824327
MIRT629162	hsa-miR-548ae-5p	HITS-CLIP	23824327
MIRT629161	hsa-miR-548ak	HITS-CLIP	23824327
MIRT629160	hsa-miR-548am-5p	HITS-CLIP	23824327
MIRT629159	hsa-miR-548ap-5p	HITS-CLIP	23824327
MIRT629158	hsa-miR-548aq-5p	HITS-CLIP	23824327
MIRT629157	hsa-miR-548ar-5p	HITS-CLIP	23824327
MIRT629156	hsa-miR-548as-5p	HITS-CLIP	23824327
MIRT629155	hsa-miR-548au-5p	HITS-CLIP	23824327
MIRT629154	hsa-miR-548ay-5p	HITS-CLIP	23824327
MIRT629153	hsa-miR-548b-5p	HITS-CLIP	23824327
MIRT629152	hsa-miR-548bb-5p	HITS-CLIP	23824327
MIRT629151	hsa-miR-548c-5p	HITS-CLIP	23824327
MIRT629150	hsa-miR-548d-5p	HITS-CLIP	23824327
MIRT629149	hsa-miR-548h-5p	HITS-CLIP	23824327
MIRT629148	hsa-miR-548i	HITS-CLIP	23824327
MIRT629147	hsa-miR-548j-5p	HITS-CLIP	23824327
MIRT629146	hsa-miR-548o-5p	HITS-CLIP	23824327
MIRT629145	hsa-miR-548w	HITS-CLIP	23824327
MIRT629144	hsa-miR-548y	HITS-CLIP	23824327
MIRT629143	hsa-miR-559	HITS-CLIP	23824327
MIRT629142	hsa-miR-548av-5p	HITS-CLIP	23824327
MIRT629141	hsa-miR-548k	HITS-CLIP	23824327
MIRT629139	hsa-miR-8054	HITS-CLIP	23824327
MIRT629140	hsa-miR-548l	HITS-CLIP	23824327
MIRT629138	hsa-miR-4524b-3p	HITS-CLIP	23824327
MIRT629137	hsa-miR-6823-5p	HITS-CLIP	23824327
MIRT629136	hsa-miR-4524a-3p	HITS-CLIP	23824327
MIRT629135	hsa-miR-6832-5p	HITS-CLIP	23824327
MIRT629134	hsa-miR-197-3p	HITS-CLIP	23824327
MIRT629133	hsa-miR-5096	HITS-CLIP	23824327
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
MIRT624908	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT624907	hsa-miR-1976	HITS-CLIP	23824327
MIRT624906	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT624905	hsa-miR-3120-5p	HITS-CLIP	23824327
MIRT624904	hsa-miR-6888-3p	HITS-CLIP	23824327
MIRT624903	hsa-miR-4326	HITS-CLIP	23824327
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
MIRT624908	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT624907	hsa-miR-1976	HITS-CLIP	23824327
MIRT624906	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT624905	hsa-miR-3120-5p	HITS-CLIP	23824327
MIRT624903	hsa-miR-4326	HITS-CLIP	23824327
MIRT624904	hsa-miR-6888-3p	HITS-CLIP	23824327
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
MIRT624908	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT624907	hsa-miR-1976	HITS-CLIP	23824327
MIRT624906	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT624905	hsa-miR-3120-5p	HITS-CLIP	23824327
MIRT630980	hsa-miR-891a-3p	HITS-CLIP	23824327
MIRT624903	hsa-miR-4326	HITS-CLIP	23824327
MIRT624904	hsa-miR-6888-3p	HITS-CLIP	23824327
MIRT629165	hsa-miR-548a-5p	HITS-CLIP	23824327
MIRT629164	hsa-miR-548ab	HITS-CLIP	23824327
MIRT629163	hsa-miR-548ad-5p	HITS-CLIP	23824327
MIRT629162	hsa-miR-548ae-5p	HITS-CLIP	23824327
MIRT629161	hsa-miR-548ak	HITS-CLIP	23824327
MIRT629160	hsa-miR-548am-5p	HITS-CLIP	23824327
MIRT629159	hsa-miR-548ap-5p	HITS-CLIP	23824327
MIRT629158	hsa-miR-548aq-5p	HITS-CLIP	23824327
MIRT629157	hsa-miR-548ar-5p	HITS-CLIP	23824327
MIRT629156	hsa-miR-548as-5p	HITS-CLIP	23824327
MIRT629155	hsa-miR-548au-5p	HITS-CLIP	23824327
MIRT629154	hsa-miR-548ay-5p	HITS-CLIP	23824327
MIRT629153	hsa-miR-548b-5p	HITS-CLIP	23824327
MIRT629152	hsa-miR-548bb-5p	HITS-CLIP	23824327
MIRT629151	hsa-miR-548c-5p	HITS-CLIP	23824327
MIRT629150	hsa-miR-548d-5p	HITS-CLIP	23824327
MIRT629149	hsa-miR-548h-5p	HITS-CLIP	23824327
MIRT629148	hsa-miR-548i	HITS-CLIP	23824327
MIRT629147	hsa-miR-548j-5p	HITS-CLIP	23824327
MIRT629146	hsa-miR-548o-5p	HITS-CLIP	23824327
MIRT629145	hsa-miR-548w	HITS-CLIP	23824327
MIRT629144	hsa-miR-548y	HITS-CLIP	23824327
MIRT629143	hsa-miR-559	HITS-CLIP	23824327
MIRT629142	hsa-miR-548av-5p	HITS-CLIP	23824327
MIRT629141	hsa-miR-548k	HITS-CLIP	23824327
MIRT629139	hsa-miR-8054	HITS-CLIP	23824327
MIRT629140	hsa-miR-548l	HITS-CLIP	23824327
MIRT629138	hsa-miR-4524b-3p	HITS-CLIP	23824327
MIRT629137	hsa-miR-6823-5p	HITS-CLIP	23824327
MIRT629136	hsa-miR-4524a-3p	HITS-CLIP	23824327
MIRT629135	hsa-miR-6832-5p	HITS-CLIP	23824327
MIRT629134	hsa-miR-197-3p	HITS-CLIP	23824327
MIRT629133	hsa-miR-5096	HITS-CLIP	23824327
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
MIRT624908	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT624907	hsa-miR-1976	HITS-CLIP	23824327
MIRT624906	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT624905	hsa-miR-3120-5p	HITS-CLIP	23824327
MIRT624904	hsa-miR-6888-3p	HITS-CLIP	23824327
MIRT624903	hsa-miR-4326	HITS-CLIP	23824327
MIRT913994	hsa-miR-1236	CLIP-seq
MIRT913995	hsa-miR-3074-5p	CLIP-seq
MIRT913996	hsa-miR-3153	CLIP-seq
MIRT913997	hsa-miR-3647-3p	CLIP-seq
MIRT913998	hsa-miR-3674	CLIP-seq
MIRT913999	hsa-miR-370	CLIP-seq
MIRT914000	hsa-miR-4524	CLIP-seq
MIRT914001	hsa-miR-4646-5p	CLIP-seq
MIRT914002	hsa-miR-4651	CLIP-seq
MIRT914003	hsa-miR-4668-5p	CLIP-seq
MIRT914004	hsa-miR-4731-5p	CLIP-seq
MIRT914005	hsa-miR-4760-3p	CLIP-seq
MIRT914006	hsa-miR-513a-3p	CLIP-seq
MIRT914007	hsa-miR-545	CLIP-seq
MIRT914008	hsa-miR-548p	CLIP-seq
MIRT914009	hsa-miR-579	CLIP-seq
MIRT914010	hsa-miR-608	CLIP-seq
MIRT914011	hsa-miR-664	CLIP-seq
MIRT914012	hsa-miR-885-3p	CLIP-seq
MIRT914013	hsa-miR-944	CLIP-seq
MIRT2206782	hsa-miR-485-3p	CLIP-seq

Show/Hide all (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
GO:0005515	Function	Protein binding	IPI	18765639
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005694	Component	Chromosome	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006325	Process	Chromatin organization	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0008270	Function	Zinc ion binding	IEA
GO:0010557	Process	Positive regulation of macromolecule biosynthetic process	IEA
GO:0010628	Process	Positive regulation of gene expression	IDA	18413740
GO:0016604	Component	Nuclear body	IDA
GO:0034502	Process	Protein localization to chromosome	IEA
GO:0040029	Process	Epigenetic regulation of gene expression	IEA
GO:0042393	Function	Histone binding	IEA
GO:0042393	Function	Histone binding	ISS
GO:0043035	Function	Chromatin insulator sequence binding	IBA
GO:0043565	Function	Sequence-specific DNA binding	IDA	18765639
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0043565	Function	Sequence-specific DNA binding	ISS
GO:0045815	Process	Transcription initiation-coupled chromatin remodeling	IMP	18765639
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	18413740
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	16140944
GO:0046872	Function	Metal ion binding	IEA
GO:0071169	Process	Establishment of protein localization to chromatin	IMP	18765639
GO:0071514	Process	Genomic imprinting	IEA
GO:0071514	Process	Genomic imprinting	ISS

MIM	HGNC	e!Ensembl
607022	16234	ENSG00000124092

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

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)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
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

Show/Hide Text Mining Associations (33)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Breast Diseases	Associate	27219508	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Associate	18195709, 21034534, 23019417, 24983365, 26185996, 27219508, 30498011, 37235839	★★★★★ ★☆☆☆☆ Found in Text Mining only
Calcinosis Cutis	Associate	23019417	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Associate	20305816, 20876690	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Associate	26185996	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Associate	24658009	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Associate	23237599, 28328845	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Non Small Cell Lung	Associate	34714841	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Associate	18095639, 21296871, 23390377	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Associate	22223638, 26185996	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Associate	24204606	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Hyperplasia	Associate	24658009	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Associate	24658009, 27618037	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Associate	23592437	★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Associate	31675998	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemangioma capillary infantile	Associate	26496499	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Associate	26185996	★★★★★ ★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Associate	24563233	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Associate	21325284, 27416782	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Stimulate	21558405	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma Non Hodgkin	Associate	31292201	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	18095639, 20649179, 20876690, 23237599, 23390377, 24983365, 24984200, 25279549, 25499215, 26185996, 27416782, 27618037, 28328845, 31292201, 35132075, 37026005 View all (1 more)	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Stimulate	24563233	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms Germ Cell and Embryonal	Associate	25279549, 26185996	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Associate	31614113	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Associate	18095639, 20649179, 20876690, 21296871, 23390377, 31292201, 35132075, 37026005	★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	24984200	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Associate	25499215	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Associate	34199176	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Associate	24563233	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Associate	34721660	★★★★★ ★☆☆☆☆ Found in Text Mining only
Testicular Neoplasms	Associate	21558405, 22792300	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Associate	34199176	★★★★★ ★☆☆☆☆ Found in Text Mining only

CTCFL (CCCTC-binding factor like)