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

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	10664
Gene name Gene Name - the full gene name approved by the HGNC.	CCCTC-binding factor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CTCF
Synonyms (NCBI Gene) Gene synonyms aliases	CFAP108, FAP108, MRD21
Chromosome Chromosome number	16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	16q22.1
Summary Summary of gene provided in NCBI Entrez Gene.	This gene is a member of the BORIS + CTCF gene family and encodes a transcriptional regulator protein with 11 highly conserved zinc finger (ZF) domains. This nuclear protein is able to use different combinations of the ZF domains to bind different DNA tar

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SNP ID	Visualize variation	Clinical significance	Consequence
rs200677445	C>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs879255516	C>T	Pathogenic	Missense variant, coding sequence variant
rs879255570	->T	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs879255571	->A	Pathogenic	Frameshift variant, coding sequence variant
rs886039600	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs886041901	GTTCT>-	Pathogenic	Stop gained, coding sequence variant
rs886041997	->A	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1064796062	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1131691283	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1555534067	C>A,T	Pathogenic	Stop gained, intron variant, synonymous variant, coding sequence variant
rs1555534093	->GA	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1555534147	GAAA>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1555534189	A>G	Likely-pathogenic	Intron variant, splice acceptor variant
rs1555535156	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1555535157	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1555535739	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555536759	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1567608876	AAAA>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1567609067	G>A	Likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs1597718106	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1597725291	C>G	Likely-pathogenic	Coding sequence variant, missense variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT024342	hsa-miR-215-5p	Microarray	19074876
MIRT026312	hsa-miR-192-5p	Microarray	19074876
MIRT030430	hsa-miR-24-3p	Microarray	19748357
MIRT052311	hsa-let-7b-5p	CLASH	23622248
MIRT040249	hsa-miR-615-3p	CLASH	23622248
MIRT036336	hsa-miR-1229-3p	CLASH	23622248
MIRT054355	hsa-miR-221-3p	Luciferase reporter assay, QRTPCR, Western blot	23630541
MIRT075141	hsa-miR-3662	PAR-CLIP	20371350
MIRT564287	hsa-miR-1322	PAR-CLIP	20371350
MIRT564286	hsa-miR-4307	PAR-CLIP	20371350
MIRT284694	hsa-miR-8088	PAR-CLIP	20371350
MIRT564285	hsa-miR-3140-3p	PAR-CLIP	20371350
MIRT284689	hsa-miR-567	PAR-CLIP	20371350
MIRT284693	hsa-miR-6740-5p	PAR-CLIP	20371350
MIRT284692	hsa-miR-4798-5p	PAR-CLIP	20371350
MIRT075141	hsa-miR-3662	PAR-CLIP	20371350
MIRT564287	hsa-miR-1322	PAR-CLIP	20371350
MIRT564286	hsa-miR-4307	PAR-CLIP	20371350
MIRT284694	hsa-miR-8088	PAR-CLIP	20371350
MIRT564285	hsa-miR-3140-3p	PAR-CLIP	20371350
MIRT284689	hsa-miR-567	PAR-CLIP	20371350
MIRT284693	hsa-miR-6740-5p	PAR-CLIP	20371350
MIRT284692	hsa-miR-4798-5p	PAR-CLIP	20371350
MIRT075141	hsa-miR-3662	PAR-CLIP	20371350
MIRT564287	hsa-miR-1322	PAR-CLIP	20371350
MIRT564286	hsa-miR-4307	PAR-CLIP	20371350
MIRT284694	hsa-miR-8088	PAR-CLIP	20371350
MIRT564285	hsa-miR-3140-3p	PAR-CLIP	20371350
MIRT284689	hsa-miR-567	PAR-CLIP	20371350
MIRT284693	hsa-miR-6740-5p	PAR-CLIP	20371350
MIRT284692	hsa-miR-4798-5p	PAR-CLIP	20371350
MIRT075141	hsa-miR-3662	PAR-CLIP	20371350
MIRT564287	hsa-miR-1322	PAR-CLIP	20371350
MIRT564286	hsa-miR-4307	PAR-CLIP	20371350
MIRT284694	hsa-miR-8088	PAR-CLIP	20371350
MIRT564285	hsa-miR-3140-3p	PAR-CLIP	20371350
MIRT284689	hsa-miR-567	PAR-CLIP	20371350
MIRT284693	hsa-miR-6740-5p	PAR-CLIP	20371350
MIRT284692	hsa-miR-4798-5p	PAR-CLIP	20371350
MIRT075141	hsa-miR-3662	PAR-CLIP	20371350
MIRT564287	hsa-miR-1322	PAR-CLIP	20371350
MIRT564286	hsa-miR-4307	PAR-CLIP	20371350
MIRT284694	hsa-miR-8088	PAR-CLIP	20371350
MIRT564285	hsa-miR-3140-3p	PAR-CLIP	20371350
MIRT284689	hsa-miR-567	PAR-CLIP	20371350
MIRT284693	hsa-miR-6740-5p	PAR-CLIP	20371350
MIRT284692	hsa-miR-4798-5p	PAR-CLIP	20371350
MIRT075141	hsa-miR-3662	PAR-CLIP	20371350
MIRT564287	hsa-miR-1322	PAR-CLIP	20371350
MIRT564286	hsa-miR-4307	PAR-CLIP	20371350
MIRT284694	hsa-miR-8088	PAR-CLIP	20371350
MIRT564285	hsa-miR-3140-3p	PAR-CLIP	20371350
MIRT284689	hsa-miR-567	PAR-CLIP	20371350
MIRT284693	hsa-miR-6740-5p	PAR-CLIP	20371350
MIRT284692	hsa-miR-4798-5p	PAR-CLIP	20371350
MIRT913905	hsa-miR-105	CLIP-seq
MIRT913906	hsa-miR-1206	CLIP-seq
MIRT913907	hsa-miR-1237	CLIP-seq
MIRT913908	hsa-miR-129-5p	CLIP-seq
MIRT913909	hsa-miR-149	CLIP-seq
MIRT913910	hsa-miR-19a	CLIP-seq
MIRT913911	hsa-miR-19b	CLIP-seq
MIRT913912	hsa-miR-23a	CLIP-seq
MIRT913913	hsa-miR-23b	CLIP-seq
MIRT913914	hsa-miR-23c	CLIP-seq
MIRT913915	hsa-miR-300	CLIP-seq
MIRT913916	hsa-miR-3120-3p	CLIP-seq
MIRT913917	hsa-miR-34b	CLIP-seq
MIRT913918	hsa-miR-3605-3p	CLIP-seq
MIRT913919	hsa-miR-3607-5p	CLIP-seq
MIRT913920	hsa-miR-3620	CLIP-seq
MIRT913921	hsa-miR-3671	CLIP-seq
MIRT913922	hsa-miR-381	CLIP-seq
MIRT913923	hsa-miR-3977	CLIP-seq
MIRT913924	hsa-miR-4259	CLIP-seq
MIRT913925	hsa-miR-4263	CLIP-seq
MIRT913926	hsa-miR-4417	CLIP-seq
MIRT913927	hsa-miR-4645-3p	CLIP-seq
MIRT913928	hsa-miR-4666-3p	CLIP-seq
MIRT913929	hsa-miR-4696	CLIP-seq
MIRT913930	hsa-miR-4699-5p	CLIP-seq
MIRT913931	hsa-miR-4709-3p	CLIP-seq
MIRT913932	hsa-miR-4715-5p	CLIP-seq
MIRT913933	hsa-miR-4718	CLIP-seq
MIRT913934	hsa-miR-4727-5p	CLIP-seq
MIRT913935	hsa-miR-4789-5p	CLIP-seq
MIRT913936	hsa-miR-576-5p	CLIP-seq
MIRT913937	hsa-miR-607	CLIP-seq
MIRT913938	hsa-miR-624	CLIP-seq
MIRT913939	hsa-miR-936	CLIP-seq
MIRT913940	hsa-miR-944	CLIP-seq
MIRT913906	hsa-miR-1206	CLIP-seq
MIRT913908	hsa-miR-129-5p	CLIP-seq
MIRT913941	hsa-miR-1301	CLIP-seq
MIRT913942	hsa-miR-1468	CLIP-seq
MIRT913910	hsa-miR-19a	CLIP-seq
MIRT913911	hsa-miR-19b	CLIP-seq
MIRT913943	hsa-miR-203	CLIP-seq
MIRT913944	hsa-miR-219-5p	CLIP-seq
MIRT913945	hsa-miR-221	CLIP-seq
MIRT913946	hsa-miR-222	CLIP-seq
MIRT913912	hsa-miR-23a	CLIP-seq
MIRT913913	hsa-miR-23b	CLIP-seq
MIRT913914	hsa-miR-23c	CLIP-seq
MIRT913947	hsa-miR-2467-5p	CLIP-seq
MIRT913916	hsa-miR-3120-3p	CLIP-seq
MIRT913948	hsa-miR-3145-5p	CLIP-seq
MIRT913949	hsa-miR-3188	CLIP-seq
MIRT913950	hsa-miR-345	CLIP-seq
MIRT913917	hsa-miR-34b	CLIP-seq
MIRT913918	hsa-miR-3605-3p	CLIP-seq
MIRT913919	hsa-miR-3607-5p	CLIP-seq
MIRT913951	hsa-miR-3650	CLIP-seq
MIRT913952	hsa-miR-3667-3p	CLIP-seq
MIRT913953	hsa-miR-3942-5p	CLIP-seq
MIRT913954	hsa-miR-3944-5p	CLIP-seq
MIRT913955	hsa-miR-3975	CLIP-seq
MIRT913923	hsa-miR-3977	CLIP-seq
MIRT913924	hsa-miR-4259	CLIP-seq
MIRT913956	hsa-miR-4270	CLIP-seq
MIRT913957	hsa-miR-4432	CLIP-seq
MIRT913958	hsa-miR-4441	CLIP-seq
MIRT913959	hsa-miR-4445	CLIP-seq
MIRT913960	hsa-miR-4495	CLIP-seq
MIRT913961	hsa-miR-4496	CLIP-seq
MIRT913962	hsa-miR-4499	CLIP-seq
MIRT913963	hsa-miR-4501	CLIP-seq
MIRT913964	hsa-miR-4504	CLIP-seq
MIRT913927	hsa-miR-4645-3p	CLIP-seq
MIRT913965	hsa-miR-4649-3p	CLIP-seq
MIRT913966	hsa-miR-4660	CLIP-seq
MIRT913967	hsa-miR-4668-5p	CLIP-seq
MIRT913929	hsa-miR-4696	CLIP-seq
MIRT913968	hsa-miR-4698	CLIP-seq
MIRT913969	hsa-miR-4699-3p	CLIP-seq
MIRT913930	hsa-miR-4699-5p	CLIP-seq
MIRT913970	hsa-miR-4703-5p	CLIP-seq
MIRT913931	hsa-miR-4709-3p	CLIP-seq
MIRT913971	hsa-miR-4711-5p	CLIP-seq
MIRT913972	hsa-miR-4714-3p	CLIP-seq
MIRT913932	hsa-miR-4715-5p	CLIP-seq
MIRT913933	hsa-miR-4718	CLIP-seq
MIRT913973	hsa-miR-4781-3p	CLIP-seq
MIRT913974	hsa-miR-4782-3p	CLIP-seq
MIRT913975	hsa-miR-485-5p	CLIP-seq
MIRT913976	hsa-miR-499-5p	CLIP-seq
MIRT913977	hsa-miR-5047	CLIP-seq
MIRT913978	hsa-miR-508-3p	CLIP-seq
MIRT913979	hsa-miR-5095	CLIP-seq
MIRT913980	hsa-miR-542-3p	CLIP-seq
MIRT913981	hsa-miR-548a-3p	CLIP-seq
MIRT913982	hsa-miR-548ad	CLIP-seq
MIRT913983	hsa-miR-548e	CLIP-seq
MIRT913984	hsa-miR-548f	CLIP-seq
MIRT913985	hsa-miR-548v	CLIP-seq
MIRT913986	hsa-miR-552	CLIP-seq
MIRT913987	hsa-miR-556-3p	CLIP-seq
MIRT913988	hsa-miR-586	CLIP-seq
MIRT913989	hsa-miR-587	CLIP-seq
MIRT913990	hsa-miR-591	CLIP-seq
MIRT913991	hsa-miR-618	CLIP-seq
MIRT913992	hsa-miR-760	CLIP-seq
MIRT913993	hsa-miR-885-5p	CLIP-seq
MIRT913939	hsa-miR-936	CLIP-seq
MIRT1922673	hsa-miR-2355-5p	CLIP-seq
MIRT913939	hsa-miR-936	CLIP-seq
MIRT1971053	hsa-miR-122	CLIP-seq
MIRT1971054	hsa-miR-1266	CLIP-seq
MIRT1971055	hsa-miR-128	CLIP-seq
MIRT1971056	hsa-miR-1299	CLIP-seq
MIRT1971057	hsa-miR-1321	CLIP-seq
MIRT1971058	hsa-miR-1324	CLIP-seq
MIRT1971059	hsa-miR-140-3p	CLIP-seq
MIRT1971060	hsa-miR-140-5p	CLIP-seq
MIRT1971061	hsa-miR-141	CLIP-seq
MIRT913942	hsa-miR-1468	CLIP-seq
MIRT1971062	hsa-miR-200a	CLIP-seq
MIRT913944	hsa-miR-219-5p	CLIP-seq
MIRT913945	hsa-miR-221	CLIP-seq
MIRT913946	hsa-miR-222	CLIP-seq
MIRT913912	hsa-miR-23a	CLIP-seq
MIRT913913	hsa-miR-23b	CLIP-seq
MIRT913914	hsa-miR-23c	CLIP-seq
MIRT913947	hsa-miR-2467-5p	CLIP-seq
MIRT1971063	hsa-miR-27a	CLIP-seq
MIRT1971064	hsa-miR-27b	CLIP-seq
MIRT1971065	hsa-miR-299-5p	CLIP-seq
MIRT1971066	hsa-miR-3065-3p	CLIP-seq
MIRT913916	hsa-miR-3120-3p	CLIP-seq
MIRT1971067	hsa-miR-3168	CLIP-seq
MIRT913949	hsa-miR-3188	CLIP-seq
MIRT1971068	hsa-miR-34a	CLIP-seq
MIRT1971069	hsa-miR-34c-5p	CLIP-seq
MIRT1971070	hsa-miR-3545-5p	CLIP-seq
MIRT913918	hsa-miR-3605-3p	CLIP-seq
MIRT1971071	hsa-miR-362-5p	CLIP-seq
MIRT1971072	hsa-miR-3909	CLIP-seq
MIRT913955	hsa-miR-3975	CLIP-seq
MIRT913956	hsa-miR-4270	CLIP-seq
MIRT1971073	hsa-miR-433	CLIP-seq
MIRT1971074	hsa-miR-4419a	CLIP-seq
MIRT913958	hsa-miR-4441	CLIP-seq
MIRT913959	hsa-miR-4445	CLIP-seq
MIRT1971075	hsa-miR-4456	CLIP-seq
MIRT913961	hsa-miR-4496	CLIP-seq
MIRT1971076	hsa-miR-449a	CLIP-seq
MIRT1971077	hsa-miR-449b	CLIP-seq
MIRT1971078	hsa-miR-4510	CLIP-seq
MIRT1971079	hsa-miR-4518	CLIP-seq
MIRT1971080	hsa-miR-4527	CLIP-seq
MIRT1971081	hsa-miR-4639-5p	CLIP-seq
MIRT913967	hsa-miR-4668-5p	CLIP-seq
MIRT1971082	hsa-miR-4717-3p	CLIP-seq
MIRT913934	hsa-miR-4727-5p	CLIP-seq
MIRT1971083	hsa-miR-4728-5p	CLIP-seq
MIRT1971084	hsa-miR-4739	CLIP-seq
MIRT1971085	hsa-miR-4756-5p	CLIP-seq
MIRT1971086	hsa-miR-4769-3p	CLIP-seq
MIRT913974	hsa-miR-4782-3p	CLIP-seq
MIRT1971087	hsa-miR-4782-5p	CLIP-seq
MIRT1971088	hsa-miR-4793-5p	CLIP-seq
MIRT1971089	hsa-miR-4802-3p	CLIP-seq
MIRT1971090	hsa-miR-4802-5p	CLIP-seq
MIRT913975	hsa-miR-485-5p	CLIP-seq
MIRT1971091	hsa-miR-500b	CLIP-seq
MIRT1971092	hsa-miR-502-5p	CLIP-seq
MIRT1971093	hsa-miR-505	CLIP-seq
MIRT913978	hsa-miR-508-3p	CLIP-seq
MIRT1971094	hsa-miR-513a-5p	CLIP-seq
MIRT1971095	hsa-miR-516b	CLIP-seq
MIRT1971096	hsa-miR-517b	CLIP-seq
MIRT1971097	hsa-miR-541	CLIP-seq
MIRT1971098	hsa-miR-543	CLIP-seq
MIRT913982	hsa-miR-548ad	CLIP-seq
MIRT1971099	hsa-miR-548p	CLIP-seq
MIRT913985	hsa-miR-548v	CLIP-seq
MIRT913987	hsa-miR-556-3p	CLIP-seq
MIRT913989	hsa-miR-587	CLIP-seq
MIRT1971100	hsa-miR-640	CLIP-seq
MIRT1971101	hsa-miR-654-5p	CLIP-seq
MIRT2206776	hsa-miR-101	CLIP-seq
MIRT1971054	hsa-miR-1266	CLIP-seq
MIRT2206777	hsa-miR-1273	CLIP-seq
MIRT2206778	hsa-miR-1305	CLIP-seq
MIRT1971057	hsa-miR-1321	CLIP-seq
MIRT1971058	hsa-miR-1324	CLIP-seq
MIRT1971059	hsa-miR-140-3p	CLIP-seq
MIRT1971060	hsa-miR-140-5p	CLIP-seq
MIRT913942	hsa-miR-1468	CLIP-seq
MIRT913944	hsa-miR-219-5p	CLIP-seq
MIRT913945	hsa-miR-221	CLIP-seq
MIRT913946	hsa-miR-222	CLIP-seq
MIRT1922673	hsa-miR-2355-5p	CLIP-seq
MIRT913912	hsa-miR-23a	CLIP-seq
MIRT913913	hsa-miR-23b	CLIP-seq
MIRT913914	hsa-miR-23c	CLIP-seq
MIRT1971065	hsa-miR-299-5p	CLIP-seq
MIRT913916	hsa-miR-3120-3p	CLIP-seq
MIRT1971067	hsa-miR-3168	CLIP-seq
MIRT913917	hsa-miR-34b	CLIP-seq
MIRT913918	hsa-miR-3605-3p	CLIP-seq
MIRT2206779	hsa-miR-377	CLIP-seq
MIRT913923	hsa-miR-3977	CLIP-seq
MIRT913924	hsa-miR-4259	CLIP-seq
MIRT913956	hsa-miR-4270	CLIP-seq
MIRT1971074	hsa-miR-4419a	CLIP-seq
MIRT913958	hsa-miR-4441	CLIP-seq
MIRT913959	hsa-miR-4445	CLIP-seq
MIRT2206780	hsa-miR-4457	CLIP-seq
MIRT1971078	hsa-miR-4510	CLIP-seq
MIRT1971079	hsa-miR-4518	CLIP-seq
MIRT1971081	hsa-miR-4639-5p	CLIP-seq
MIRT913968	hsa-miR-4698	CLIP-seq
MIRT913932	hsa-miR-4715-5p	CLIP-seq
MIRT1971082	hsa-miR-4717-3p	CLIP-seq
MIRT913934	hsa-miR-4727-5p	CLIP-seq
MIRT1971083	hsa-miR-4728-5p	CLIP-seq
MIRT1971084	hsa-miR-4739	CLIP-seq
MIRT1971085	hsa-miR-4756-5p	CLIP-seq
MIRT913973	hsa-miR-4781-3p	CLIP-seq
MIRT913974	hsa-miR-4782-3p	CLIP-seq
MIRT2206781	hsa-miR-4797-5p	CLIP-seq
MIRT1971089	hsa-miR-4802-3p	CLIP-seq
MIRT1971090	hsa-miR-4802-5p	CLIP-seq
MIRT913978	hsa-miR-508-3p	CLIP-seq
MIRT1971098	hsa-miR-543	CLIP-seq
MIRT913985	hsa-miR-548v	CLIP-seq
MIRT913989	hsa-miR-587	CLIP-seq
MIRT1971100	hsa-miR-640	CLIP-seq
MIRT913993	hsa-miR-885-5p	CLIP-seq
MIRT913939	hsa-miR-936	CLIP-seq
MIRT913956	hsa-miR-4270	CLIP-seq
MIRT913958	hsa-miR-4441	CLIP-seq
MIRT1971098	hsa-miR-543	CLIP-seq
MIRT913948	hsa-miR-3145-5p	CLIP-seq
MIRT2510099	hsa-miR-3613-3p	CLIP-seq
MIRT913952	hsa-miR-3667-3p	CLIP-seq
MIRT913956	hsa-miR-4270	CLIP-seq
MIRT913958	hsa-miR-4441	CLIP-seq
MIRT913967	hsa-miR-4668-5p	CLIP-seq
MIRT913981	hsa-miR-548a-3p	CLIP-seq
MIRT2510100	hsa-miR-548ac	CLIP-seq
MIRT2510101	hsa-miR-548ae	CLIP-seq
MIRT2510102	hsa-miR-548aj	CLIP-seq
MIRT2510103	hsa-miR-548am	CLIP-seq
MIRT2510104	hsa-miR-548d-3p	CLIP-seq
MIRT913983	hsa-miR-548e	CLIP-seq
MIRT913984	hsa-miR-548f	CLIP-seq
MIRT1971099	hsa-miR-548p	CLIP-seq
MIRT2510105	hsa-miR-548x	CLIP-seq
MIRT2510106	hsa-miR-548z	CLIP-seq
MIRT913988	hsa-miR-586	CLIP-seq
MIRT913991	hsa-miR-618	CLIP-seq
MIRT2510107	hsa-miR-635	CLIP-seq
MIRT913948	hsa-miR-3145-5p	CLIP-seq
MIRT2510099	hsa-miR-3613-3p	CLIP-seq
MIRT913952	hsa-miR-3667-3p	CLIP-seq
MIRT913956	hsa-miR-4270	CLIP-seq
MIRT913958	hsa-miR-4441	CLIP-seq
MIRT913967	hsa-miR-4668-5p	CLIP-seq
MIRT913981	hsa-miR-548a-3p	CLIP-seq
MIRT913983	hsa-miR-548e	CLIP-seq
MIRT913984	hsa-miR-548f	CLIP-seq
MIRT1971099	hsa-miR-548p	CLIP-seq
MIRT913991	hsa-miR-618	CLIP-seq

Transcription factors

Show/Hide all(5)

Transcription factor	Regulation	Reference
BCL3	Repression	21912613
FOXH1	Unknown	19956589
NFKB1	Repression	21912613
WT1	Unknown	24534946
YY1	Activation	9756895

Show/Hide all(66)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	8649389
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	34856126
GO:0000775	Component	Chromosome, centromeric region	IDA	18550811, 26321640
GO:0000775	Component	Chromosome, centromeric region	IEA
GO:0000793	Component	Condensed chromosome	IDA	16107875
GO:0000976	Function	Transcription cis-regulatory region binding	IDA	18413740
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	8649389
GO:0000987	Function	Cis-regulatory region sequence-specific DNA binding	IEA
GO:0001221	Function	Transcription coregulator binding	IPI	31547883
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	8649389
GO:0001673	Component	Male germ cell nucleus	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IBA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	8649389, 9591631
GO:0005515	Function	Protein binding	IPI	19505873, 19536159, 24725430, 24937458, 25416956, 26321640, 32296183, 32814053, 33961781, 35271311
GO:0005634	Component	Nucleus	IDA	9407128, 28319062, 31547883
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA	16107875, 16595548
GO:0005654	Component	Nucleoplasm	IEA
GO:0005694	Component	Chromosome	IEA
GO:0005730	Component	Nucleolus	IDA	16595548
GO:0006325	Process	Chromatin organization	IEA
GO:0006325	Process	Chromatin organization	IEA
GO:0006346	Process	DNA methylation-dependent constitutive heterochromatin formation	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007005	Process	Mitochondrion organization	IEA
GO:0007059	Process	Chromosome segregation	IEA
GO:0007507	Process	Heart development	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008270	Function	Zinc ion binding	TAS	8649389
GO:0008285	Process	Negative regulation of cell population proliferation	IMP	28319062
GO:0010467	Process	Gene expression	IEA
GO:0010557	Process	Positive regulation of macromolecule biosynthetic process	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	IMP	18347100
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0034502	Process	Protein localization to chromosome	IEA
GO:0040029	Process	Epigenetic regulation of gene expression	IEA
GO:0040029	Process	Epigenetic regulation of gene expression	IEA
GO:0040029	Process	Epigenetic regulation of gene expression	IMP	16815976
GO:0043035	Function	Chromatin insulator sequence binding	IDA	17827499
GO:0043565	Function	Sequence-specific DNA binding	IDA	17827499
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0044027	Process	Negative regulation of gene expression via chromosomal CpG island methylation	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	8649389, 18413740
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	9407128
GO:0045893	Process	Positive regulation of DNA-templated transcription	IMP	19322193
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	24662484
GO:0046872	Function	Metal ion binding	IEA
GO:0055007	Process	Cardiac muscle cell differentiation	IEA
GO:0055013	Process	Cardiac muscle cell development	IEA
GO:0070602	Process	Regulation of centromeric sister chromatid cohesion	NAS	18550811
GO:0071459	Process	Protein localization to chromosome, centromeric region	IMP	26321640
GO:0071514	Process	Genomic imprinting	IDA	17827499
GO:0071514	Process	Genomic imprinting	IEA
GO:0140587	Function	Chromatin loop anchoring activity	IMP	34856126
GO:0140588	Process	Chromatin looping	IDA	18654629, 24662484
GO:0140588	Process	Chromatin looping	IEA
GO:0140588	Process	Chromatin looping	IMP	34856126
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	34856126

MIM	HGNC	e!Ensembl
604167	13723	ENSG00000102974

Protein

UniProt ID

P49711

Protein name

Transcriptional repressor CTCF (11-zinc finger protein) (CCCTC-binding factor) (CTCFL paralog)

Protein function

Chromatin binding factor that binds to DNA sequence specific sites and regulates the 3D structure of chromatin (PubMed:18347100, PubMed:18654629, PubMed:19322193). Binds together strands of DNA, thus forming chromatin loops, and anchors DNA to c

PDB

1X6H , 2CT1 , 5K5H , 5K5I , 5K5J , 5K5L , 5KKQ , 5T00 , 5T0U , 5UND , 5YEF , 5YEG , 5YEH , 5YEL , 6QNX , 7W1M , 8SSQ , 8SSR , 8SSS , 8SST , 8SSU

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00096	zf-C2H2	266 → 288	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	294 → 316	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	322 → 345	Zinc finger, C2H2 type	Domain
PF13909	zf-H2C2_5	351 → 375		Domain
PF00096	zf-C2H2	379 → 401	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	437 → 460	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	555 → 575	Zinc finger, C2H2 type	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. Absent in primary spermatocytes. {ECO:0000269|PubMed:9591631}.

Sequence

MEGDAVEAIVEESETFIKGKERKTYQRRREGGQEEDACHLPQNQTDGGEVVQDVNSSVQM
VMMEQLDPTLLQMKTEVMEGTVAPEAEAAVDDTQIITLQVVNMEEQPINIGELQLVQVPV
PVTVPVATTSVEELQGAYENEVSKEGLAESEPMICHTLPLPEGFQVVKVGANGEVETLEQ
GELPPQEDPSWQKDPDYQPPAKKTKKTKKSKLRYTEEGKDVDVSVYDFEEEQQEGLLSEV
NAEKVVGNMKPPKPTKIKKKGVKKTFQCELCSYTCPRRSNLDRHMKSHTDERPHKCHLCG
RAFRTVTLLRNHLNTHTGTRPHKCPDCDMAFVTSGELVRHRRYKHTHEKPFKCSMCDYAS
VEVSKLKRHIRSHTGERPFQCSLCSYASRDTYKLKRHMRTHSGEKPYECYICHARFTQSG
TMKMHILQKHTENVAKFHCPHCDTVIARKSDLGVHLRKQHSYIEQGKKCRYCDAVFHERY
ALIQHQKSHKNEKRFKCDQCDYACRQERHMIMHKRTHTGEKPYACSHCDKTFRQKQLLDM
HFKRYHDPNFVPAAFVCSKCGKTFTRRNTMARHADNCAGPDGVEGENGGETKKSKRGRKR
KMRSKKEDSSDSENAEPDLDDNEDEEEPAVEIEPEPEPQPVTPAPPPAKKRRGRPPGRTN
QPKQNQPTAIIQVEDQNTGAIENIIVEVKKEPDAEPAEGEEEEAQPAATDAPNGDLTPEM
ILSMMDR

Sequence length

727

Interactions

View interactions

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Mental retardation	intellectual disability	rs879255516, rs1555534147	N/A
Desmoplastic/Nodular Medulloblastoma	desmoplastic/nodular medulloblastoma	rs886041997	N/A

Show/Hide Unknown Diseases (3)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Alzheimer disease	Alzheimer's disease or family history of Alzheimer's disease	N/A	N/A	GWAS
Asthma	Age of onset of adult onset asthma	N/A	N/A	GWAS
Oligodendroglioma	Oligodendroglioma	N/A	N/A	GWAS

Show/Hide Text Mining Associations (112)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Alzheimer Disease	Associate	31262699, 31500627, 37302762
Amyotrophic Lateral Sclerosis	Associate	32732921
Anodontia	Associate	35175239
Arthritis Juvenile	Associate	33597588
Arthritis Rheumatoid	Associate	35085847
Asthenozoospermia	Associate	19584898
Asthma	Associate	27848966, 29228930
Atherosclerosis	Associate	19322193
Autoimmune Diseases	Associate	32879140, 34279042
Azoospermia	Associate	37334314
Beckwith Wiedemann Syndrome	Associate	15743916, 21282187, 27152123, 38254969
Bipolar Disorder	Associate	30503783
Breast Neoplasms	Associate	15084242, 18195709, 20661439, 22142239, 22277129, 23908591, 27638884, 31292138, 31372638, 31727847, 33436746, 35971249, 36037342, 36828916, 38236307, 38565950, 39913285 View all (2 more)
Breast Neoplasms	Inhibit	15354217, 32503656
Breast Neoplasms Male	Associate	22064860
Carcinogenesis	Associate	26983574, 31534142
Carcinoma Ductal	Associate	24842653
Carcinoma Hepatocellular	Associate	26657029
Carcinoma Ovarian Epithelial	Associate	21296871
Carcinoma Ovarian Epithelial	Inhibit	23390377
Carcinoma Pancreatic Ductal	Associate	35184402
Carcinoma Renal Cell	Associate	28319062, 36311770
Cell Transformation Neoplastic	Associate	28319062
Colorectal Neoplasms	Associate	32865336, 35175239, 35240232, 37394872
Congenital Abnormalities	Associate	33216750
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	27152123
COVID 19	Associate	34634929
Crohn Disease	Associate	37280154
Deafness Autosomal Dominant 21	Associate	38054406
Dementia	Associate	29056226
Developmental Disabilities	Associate	33004838, 38054406
Diabetes Mellitus Type 2	Associate	20016592, 21035756, 32747424, 32802835, 33535042
Diabetic Nephropathies	Associate	36633903
Down Syndrome	Associate	37895004
Dyslipidemias	Associate	19322193
Endometrial Neoplasms	Associate	24130125, 26330387, 28319062, 37730563
Epstein Barr Virus Infections	Associate	29976663, 36744959
Fibrosis	Associate	36057144, 36633903
Fragile X Syndrome	Associate	30173918
Friedreich Ataxia	Associate	19956589, 24023969
Frontotemporal Lobar Degeneration	Associate	29056226
Gastrointestinal Neoplasms	Associate	29670109, 33941236
Genetic Diseases X Linked	Associate	36652535
Glioblastoma	Associate	26983574
Glioma	Associate	26700815, 29549165, 33801310, 35390275
Graft vs Host Disease	Associate	33133081, 36056390
Growth Disorders	Stimulate	15941718
Growth Disorders	Associate	23746550, 36847142
Head and Neck Neoplasms	Associate	26747525
Hemangioma capillary infantile	Associate	26496499
Hereditary Breast and Ovarian Cancer Syndrome	Associate	15354217
Hypoxia	Stimulate	39913285
Infections	Associate	28898712
Inflammation	Associate	34789272
Influenza Human	Associate	28714988
Intellectual Disability	Associate	23746550, 28619046, 35459888, 36951113
Leukemia	Associate	37060567, 37365294, 37987160, 40355969
Leukemia Myeloid	Associate	15941718
Leukemia Myeloid Acute	Associate	22976956, 28498449, 32232485, 32398790, 34405474, 34584081, 36411356
Leukemia Prolymphocytic T Cell	Associate	37699659
Lung Neoplasms	Associate	21325284, 23303185, 25592173
Lupus Erythematosus Systemic	Associate	26880555, 40437445
Lymphoma Mantle Cell	Associate	18625744
Lymphoproliferative Disorders	Associate	31655559
Melanoma	Associate	27974201, 33941236, 34487363
Mental Disorders	Associate	21494683, 31949401
Mental Retardation Autosomal Recessive 7	Associate	38054406
Metabolic Syndrome	Associate	21494683
Microcephaly	Associate	23746550
Microsatellite Instability	Associate	35175239
Muscular Dystrophy Facioscapulohumeral	Associate	19247430, 21327102
Myasthenia Gravis	Associate	34789272
Myotonic Dystrophy	Associate	34432028
Nasopharyngeal Carcinoma	Associate	36371985, 37658588
Neoplasm Metastasis	Associate	28319062, 31736271, 32374727, 35184402, 37394872, 37658588
Neoplasms	Inhibit	15084242, 15941718, 24563233, 26330387, 28319062
Neoplasms	Associate	17962299, 18095639, 19450526, 19481516, 20876690, 21304052, 21663659, 22277129, 23390377, 23620300, 23908591, 24130125, 24393203, 25499215, 26496499 View all (26 more)
Neoplasms	Stimulate	26125810
Neoplasms Cystic Mucinous and Serous	Associate	28319062
Nerve Degeneration	Associate	34417498, 36652535
Neuroblastoma	Associate	32216806
Neurodegenerative Diseases	Associate	29056226, 33411704
Nijmegen Breakage Syndrome	Associate	28973861
Oligospermia	Associate	24015185
Osteosarcoma	Associate	29339716
Ovarian Neoplasms	Associate	20876690, 21296871, 29802231
Pancreatitis	Associate	21494683
Papillomavirus Infections	Associate	37365652
Parkinson Disease	Associate	29486295, 35168626
Precursor B Cell Lymphoblastic Leukemia Lymphoma	Associate	31127282
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	24393203, 28671688, 32933554
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	32086528, 36289338, 37060567
Prostatic Neoplasms	Associate	25499215, 26938874, 30296942, 30400943, 31515496, 31736271, 33941236, 34849858, 36997534
Prostatitis	Associate	22344698
Rett Syndrome	Associate	36652535
Rhabdomyosarcoma	Associate	37882064
Sarcoma Kaposi	Associate	31666380
Severe Acute Respiratory Syndrome	Associate	28714988
Silver Russell Syndrome	Associate	21282187, 27152123, 38254969
Skin Neoplasms	Associate	27974201, 34487363
Sleep Initiation and Maintenance Disorders	Associate	21494683
Spinocerebellar Ataxia Autosomal Recessive 2	Associate	34487363
Squamous Cell Carcinoma of Head and Neck	Associate	30933315
Squamous Intraepithelial Lesions	Associate	26125810
Status Asthmaticus	Associate	29228930
Stomach Neoplasms	Associate	37606370
Triple Negative Breast Neoplasms	Associate	35499320, 35513575, 38017545
Uterine Cervical Neoplasms	Associate	23884423, 26125810
Virus Diseases	Associate	31666380
Williams Syndrome	Associate	26166478
Wilms Tumor	Associate	15743916, 27152123, 35459888
Zinc Deficiency Neonatal due to Low Breast Milk Zinc	Associate	33071257

CTCF (CCCTC-binding factor)