CTCF - CCCTC-binding factor Gene

Also Known as MRD21; FAP108; CFAP108

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10664

About CTCF

Cytogenetic location: 16q22.1 Genomic coordinates (GRCh38): 16:67,562,526-67,639,185 (from NCBI)

This gene has 17 transcripts (splice variants), 261 orthologues, 36 paralogues and is associated with 101 phenotypes. Ubiquitous expression in lymph node (RPKM 18.3), spleen (RPKM 14.7) and 25 other tissues.

Summary

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 target sequences and proteins. Depending upon the context of the site, the protein can bind a Histone Acetyltransferase (HAT)-containing complex and function as a transcriptional activator or bind a histone deacetylase (HDAC)-containing complex and function as a transcriptional repressor. If the protein is bound to a transcriptional insulator element, it can block communication between enhancers and upstream promoters, thereby regulating imprinted expression. Mutations in this gene have been associated with invasive breast cancers, prostate cancers, and Wilms' tumors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]

CTCF Products (3)

mRNA	Protein	Name
NM_001191022.2	NP_001177951.1	transcriptional repressor CTCF isoform 2
NM_001363916.1	NP_001350845.1	transcriptional repressor CTCF isoform 3
NM_006565.4	NP_006556.1	transcriptional repressor CTCF isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables DNA-binding transcription factor activity	IDA IDA: Inferred from direct assay	8649389	GOA
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	8649389	GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	8649389	GOA
enables chromatin insulator sequence binding	IDA IDA: Inferred from direct assay	17827499	GOA
enables chromatin loop anchoring activity	IMP IMP: Inferred from mutant phenotype	34856126	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	19505873	GOA
enables sequence-specific DNA binding	IDA IDA: Inferred from direct assay	17827499	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	34856126	GOA
enables transcription cis-regulatory region binding	IDA IDA: Inferred from direct assay	18413740	GOA
enables transcription coregulator binding	IPI IPI: Inferred from physical interaction	31547883	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in chromatin looping	IDA IDA: Inferred from direct assay	18654629	GOA
involved in chromatin looping	IMP IMP: Inferred from mutant phenotype	34856126	GOA
involved in epigenetic regulation of gene expression	IMP IMP: Inferred from mutant phenotype	16815976	GOA
involved in genomic imprinting	IDA IDA: Inferred from direct assay	17827499	GOA
involved in negative regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	8649389	GOA
involved in negative regulation of cell population proliferation	IMP IMP: Inferred from mutant phenotype	28319062	GOA
involved in negative regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	8649389	GOA
involved in negative regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	34856126	GOA
involved in positive regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	9407128	GOA
involved in positive regulation of DNA-templated transcription	IMP IMP: Inferred from mutant phenotype	19322193	GOA
involved in positive regulation of gene expression	IMP IMP: Inferred from mutant phenotype	18347100	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	24662484	GOA
involved in protein localization to chromosome, centromeric region	IMP IMP: Inferred from mutant phenotype	26321640	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in chromosome, centromeric region	IDA IDA: Inferred from direct assay	18550811	GOA
located in condensed chromosome	IDA IDA: Inferred from direct assay	16107875	GOA
located in nucleolus	IDA IDA: Inferred from direct assay	16595548	GOA
located in nucleoplasm	IDA IDA: Inferred from direct assay	16107875	GOA
located in nucleus	IDA IDA: Inferred from direct assay	9407128	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CTCF Protein Structure

zf-H2C2_2

zf-C2H2

zf-H2C2_2

zf-C2H2_4

0
200
400
600
727 a.a.

Protein Preferred Names	Protein Names
transcriptional repressor CTCF	11 zinc finger transcriptional repressor

CTCF Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	CTCF	P49711	HDLBP	Homo sapiens	Q00341	Anti Bait CoIP	24725430
Intra	CTCF	P49711	HDLBP	Homo sapiens	Q00341	Pull Down	24725430
Intra	CTCF	P49711	HDLBP	Homo sapiens	Q00341	Y2H	24725430
Intra	CTCF	P49711	RPL31	Homo sapiens	P62899	Y2H	24725430
Intra	CTCF	P49711	RPL31	Homo sapiens	P62899	Anti Tag CoIP	35271311
Intra	CTCF	P49711	ZMYM6	Homo sapiens	O95789-4	Y2H Prey Pooling	32296183
Intra	CTCF	P49711	ZMYM6	Homo sapiens	O95789-4	Y2H Array	32296183
Intra	CTCF	P49711	KDM5B	Homo sapiens	Q9UGL1	Anti Tag CoIP	24937458
Intra	CTCF	P49711	KDM5B	Homo sapiens	Q9UGL1	Anti Bait CoIP	24937458
Intra	CTCF	P49711	TRAF2	Homo sapiens	Q12933	Y2H Prey Pooling	32296183
Intra	CTCF	P49711	TRAF2	Homo sapiens	Q12933	Validated Y2H	32296183
Intra	CTCF	P49711	TRAF2	Homo sapiens	Q12933	Y2H Array	32296183
Intra	CTCF	P49711	POU5F1	Homo sapiens	Q01860	Anti Bait CoIP	19536159

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant CTCF Proteins

Art. -Nr.	Produktname	Accession	Reinheit
HY-P70039	CTCF Protein, Human	P49711-1 (M1-I154)	≥ 95%, as determined by reducing SDS-PAGE.

CTCF Antibodies

Art. -Nr.	Produktname	Anwendung	Reactivity
HY-P82825	CTCF Antibody (YA2570)	WB, IHC-F, IHC-P, ICC/IF	Human, Mouse, Rat
HY-P82825A	CTCF Antibody (YA2570)(PBS only)	WB, IHC-F, IHC-P, ICC/IF	Human, Mouse, Rat
HY-P84357	CTCF Antibody (YA4054)	WB, ELISA	Human, Monkey
HY-P84357A	CTCF Antibody (YA4054)(PBS only)	WB, ELISA	Human, Monkey
HY-P85112	CTCF Antibody (YA4804)	WB, ELISA	Human, Monkey
HY-P86221	CTCF Antibody (YA5913)	WB, IHC-P, ICC/IF, IP, ELISA	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Intellectual Developmental Disorder, Autosomal Dominant 21	MRD21 Mental Retardation, Autosomal Dominant 21 Autosomal Dominant Non-Syndromic Intellectual Disability 21 Autosomal Dominant Intellectual Developmental Disorder 21 Autosomal Dominant Mental Retardation 21 Ctcf-Related Neurodevelopmental Disorder Mental Retardation, Autosomal Dominant, Type 21
Acute Megakaryoblastic Leukemia In Down Syndrome	Ds-Amkl
Beckwith-Wiedemann Syndrome	Wiedemann-Beckwith Syndrome BWS Exomphalos-Macroglossia-Gigantism Syndrome Emg Syndrome Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation Emg Abnormality Wbs Exomphalos Macroglossia Gigantism Syndrome Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation Macroglossia Exomphalos Gigantism
Uterine Corpus Endometrial Carcinoma
North American Indian Childhood Cirrhosis	NAIC Hereditary North American Indian Childhood Cirrhosis Cirrhosis, North American Indian Childhood Type Cirrhosis, Childhood, North American Indian
Congenital Mesoblastic Nephroma	Mesoblastic Nephroma Nephroma, Mesoblastic
Friedreich Ataxia	Friedreich Ataxia 1 FRDA Friedreich Ataxia With Retained Reflexes Frda1 Fa Friedreich'S Ataxia Hereditary Spinal Ataxia Fa1 Friedreich'S Tabes Hereditary Spinal Sclerosis Spinocerebellar Ataxia, Friedreich Friedreich Spinocerebellar Ataxia Friedrich'S Ataxia
Non-Syndromic X-Linked Intellectual Disability 89	Mrx89
Nephroma	Benign Nephroma
Mental Retardation, X-Linked 92	MRX92 Intellectual Developmental Disorder, X-Linked 92 Non-Syndromic X-Linked Intellectual Disability 92 X-Linked Mental Retardation 92 Mental Retardation, X-Linked, Type 92
Rett Syndrome	Atypical Rett Syndrome RTT Rett Disorder Rts Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use Rett Syndrome, Preserved Speech Variant Rett Syndrome, Atypical Rett'S Disorder Rett Syndrome Variant Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome Cerebroatrophic Hyperammonemia Rett Like Syndrome Rett'S Syndrome Atypical Rtt Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Rett Syndrome Preserved Speech Variant Rett Syndrome Zappella Variant Rett Syndrome, Zappella Variant
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	PKD3 Polycystic Kidney Disease, Adult, Type Iii Apkd3 Polycystic Kidney Disease 3 Polycystic Kidney Disease, Type 3 Polycystic Kidney Disease 3 Without Polycystic Liver Disease Polycystic Kidney Disease 3, Autosomal Dominant
Silver-Russell Syndrome 1	Silver-Russell Syndrome Russell-Silver Syndrome Silver-Russell Dwarfism Rss SRS1 Srs Silver Russell Dwarfism Russell Silver Syndrome Silver Russell Syndrome
Facioscapulohumeral Muscular Dystrophy 1	Facioscapulohumeral Muscular Dystrophy Fshd Landouzy-Dejerine Muscular Dystrophy Muscular Dystrophy, Facioscapulohumeral FSHD1 Fshd1a Muscular Dystrophy, Facioscapulohumeral, Type 1a Facioscapulohumeral Muscular Dystrophy Type 1a Fsh Muscular Dystrophy Facioscapulohumeral Muscular Dystrophy 1a Facioscapulohumeral Atrophy Facioscapulohumeral Myopathy Muscular Dystrophy, Facioscapulohumeral, Type 1 Facioscapulohumeral Muscular Dystrophy Type 1 Landouzy Dejerine Muscular Dystrophy Muscular Dystrophy, Landouzy-Dejerine Fshmd1a Facio-Scapulo-Humeral Dystrophy Facioscapulohumeral Type Progressive Muscular Dystrophy Facioscapuloperoneal Muscular Dystrophy Facioscapulohumeral Dystrophy Fsh Dystrophy Landouzy-Dejerine Dystrophy Landouzy-Dejerine Myopathy Fmd Facioscapulohumeral Muscular Dystrophy-1a Muscular Dystrophy Facioscapulohumeral Dystrophy, Muscular, Facioscapulohumeral Dystrophy, Muscular, Facioscapulohumeral, Type 1 Landouzy-Dejerine Disease Landouzy-Déjerine Atrophy Facioscapulohumeral Muscle Dystrophy Fmd - [Facioscapulohumeral Muscular Dystrophy] Fsh - [Facioscapulohumeral Muscular Dystrophy] Fshd - [Facioscapulohumeral Muscular Dystrophy] Landouzy-Déjerine Dystrophy Or Facioscapulohumeral Atrophy Landouzy-Déjérine Muscular Dystrophy
Prion Disease	Spongiform Encephalopathy Transmissible Spongiform Encephalopathies Prion Diseases Prion Disease Pathway Transmissible Spongiform Encephalopathy Prion Induced Disorder Prion Protein Disease Inherited Human Transmissible Spongiform Encephalopathies Prion Protein Diseases Prion-Associated Disorders Prion-Induced Disorders Transmissible Dementias Tses Human Prion Disease Tse Encephalopathy, Transmissible Spongiform Prion Disease, Susceptibility To Spongiform Encephalopathies Human Transmissible Spongiform Encephalopathies, Inherited
Corneal Dystrophy, Posterior Polymorphous, 4	PPCD4 Posterior Polymorphous Corneal Dystrophy 4
Hyperoxaluria, Primary, Type I	Primary Hyperoxaluria Type 1 HP1 Glycolic Aciduria Alanine-Glyoxylate Aminotransferase Deficiency Hepatic Agt Deficiency Oxalosis I Primary Hyperoxaluria, Type I Serine:Pyruvate Aminotransferase Deficiency Hyperoxaluria, Primary, Type 1 Peroxisomal Alanine-Glyoxylate Aminotransferase Deficiency Peroxisomal Alanine Glyoxylate Aminotransferase Deficiency Serine Pyruvate Aminotransferase Deficiency Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency Oxalosis 1 Hyperoxaluria Primary 1 Hyperoxaluria Primary Type I Ph1 Primary Hyperoxaluria Type I Oxalosis Type 1 2-Oxoglutarate Glyoxylate Carboligase Deficiency
Bladder Cancer	Urinary Bladder Cancer Bladder Carcinoma Urinary Bladder Carcinoma Bladder Neoplasm Bladder Tumor Cancer, Bladder Malignant Neoplasm Of Urinary Bladder Carcinoma Of Bladder Bladder Cancer, Somatic Tumor Of The Bladder Carcinoma Of Urinary Bladder Bladder Carcinoma Urinary Cancer Of The Urinary Bladder Cancer, Urinary Bladder Malignant Bladder Neoplasm Malignant Bladder Tumor Neoplasm Of The Bladder Neoplasm Of The Urinary Bladder Tumor Of The Urinary Bladder Urinary Bladder Neoplasm BLC Urothelial Carcinoma Of The Bladder Bladder Tumors Urinary Bladder Neoplasms Bladder Cancer Nos Vesical Cancer Nos Malignant Neoplasm Of Bladder, Part Unspecified Malignant Tumour Of Urinary Bladder Primary Malignant Neoplasm Of Bladder
Endometrial Cancer	Endometrial Carcinoma Endometrial Neoplasm Malignant Neoplasm Of Endometrium Endometrioid Carcinoma Endometrial Neoplasms Carcinoma, Endometrioid Endometrial Cancer, Familial Endometrial Carcinoma, Somatic Endometrial Cancer, Susceptibility To Endometrial Ca Malignant Endometrial Neoplasm Neoplasm Of Endometrium Primary Malignant Neoplasm Of Endometrium Tumor Of Endometrium Carcinoma Of The Endometrium Endometrioid Carcinoma Of Female Reproductive System ENDMC Carcinoma Endometrioid Endometrial Cancers Cancer, Endometrial Uterine Corpus Cancer
Primary Hyperoxaluria	Hyperoxaluria Hyperoxaluria, Primary Oxalosis Primary Oxalosis Congenital Oxaluria D-Glycerate Dehydrogenase Deficiency Glyceric Aciduria Glycolic Aciduria Hepatic Agt Deficiency Oxaluria, Primary Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency Primary Oxaluria Hyperoxaluria Primary Primary Hyperoxaluria Type 2 Primary Hyperoxaluria, Type I
Breast Cancer	Breast Carcinoma Male Breast Cancer Breast Cancer, Familial Malignant Neoplasm Of Breast Breast Cancer, Susceptibility To Breast Cancer, Early-Onset Malignant Tumor Of Breast Carcinoma Of Male Breast Breast Cancer, Invasive Ductal Breast Cancer, Protection Against Breast Cancer, Somatic Breast Cancer, Male Breast Cancer, Lobular, Somatic Breast Tumor Mammary Cancer Mammary Tumor Malignant Neoplasm Of Male Breast Mammary Carcinoma Male Breast Carcinoma Familial Cancer Of Breast Invasive Ductal Breast Carcinoma Breast Cancer Susceptibility Breast Cancer, Male, Susceptibility To Breast Cancer, Early-Onset, Susceptibility To Malignant Tumor Of The Breast Mammary Neoplasm Primary Breast Cancer Neoplasm Of Male Breast Carcinoma Of Breast Breast Cancer In Men Familial Breast Cancer Cancer Of Breast BC Breast Cancer Familial Breast Cancer Familial Male Breast Cancer, Familial Male Breast Male Carcinoma Breast Neoplasms Breast Neoplasms, Male Mammary Tumors Mammary Carcinomas Cancer, Breast Cancer, Breast, Susceptibility Invasive Breast Ductal Carcinoma Breast Neoplasm Susceptibility To Breast Cancer Mammary Neoplasms Animal Mammary Neoplasms Primary Malignant Neoplasm Of Breast Infiltrating Ductal Carcinoma Of Breast Infiltrating Duct Carcinoma Of Unspecified Site Infiltrating Ductular Carcinoma Of Unspecified Site Invasive Breast Carcinoma Of No Special Type Microinvasive Carcinoma Of Breast Carcinoma With Apocrine Differentiation
Cornelia De Lange Syndrome	De Lange Syndrome Brachmann De Lange Syndrome Brachmann-De Lange Syndrome Cdls Bdls Typus Degenerativus Amstelodamensis
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome	Icf Syndrome Immunodeficiency Syndrome, Variable Ciid Centromeric Instability, Immunodeficiency Syndrome Immune Deficiency, Variable, With Centromeric Instability Of Chromosomes 1, 9, And 16 Icf
Cartilage-Hair Hypoplasia	Metaphyseal Chondrodysplasia, Mckusick Type CHH Mckusick Type Metaphyseal Chondrodysplasia Metaphyseal Dysplasia Without Hypotrichosis Cartilage Hair Hypoplasia Like Syndrome Metaphyseal Chondrodysplasia Mckusick Type Chhv Cartilage-Hair Hypoplasia Variant, Skeletal Manifestations Only Cartilage-Hair Hypoplasia-Like Skeletal Dysplasia Without Hypotrichosis Or Immunodeficiency Cartilage-Hair Syndrome Mckusick'S Metaphyseal Chondrodysplasia Syndrome Metaphyseal Chondrodysplasia, Recessive Type Autosomal Recessive Metaphyseal Chondrodysplasia
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Retinitis Pigmentosa 11	RP11 Retinitis Pigmentosa-11 Retinitis Pigmentosa, Type 11
Alpha-Thalassemia	Alpha Thalassemia Alpha Thalassaemia Alpha Plus Thalassemia Thalassemia, Alpha- Thalassemias, Alpha- A-Thalassemia Α-Thalassemia A-THAL Thalassemia Alpha Thalassaemia Syndrome
Wilms Tumor 1	Nephroblastoma Wilms Tumor WT1 Wilms' Tumor Bilateral Wilms Tumor Wilms Tumor, Type 1 Wilms Tumor, Somatic Adult Nephroblastoma Wt1 Disorder Renal Embryonic Tumor Adult Kidney Wilms Tumor Childhood Kidney Wilms Tumor Nonanaplastic Kidney Wilms Tumor
Leukemia, Acute Myeloid	Acute Myeloid Leukemia Leukemia, Acute Myelogenous Acute Myelogenous Leukemia AML Leukemia, Acute Myeloid, Susceptibility To Acute Myeloblastic Leukemia Leukemia, Acute Myeloid, Reduced Survival In, Somatic Acute Myeloid Leukaemia Leukemia, Myelocytic, Acute Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome Secondary Aml Acute Myelocytic Leukemia Acute Myeloid Leukemia, Somatic Leukemia, Acute Myeloid, Somatic Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic Acute Myeloblastic Leukaemia Acute Myelogenous Leukaemia Aml - Acute Myeloid Leukemia Acute Myeloid Leukemia With Cebpa Somatic Mutations Aml With Cebpa Somatic Mutations Inherited Acute Myeloid Leukemia Familial Aml Inherited Aml Pure Familial Aml Pure Familial Acute Myeloid Leukemia Secondary Acute Myeloid Leukemia Therapy-Related Aml And Myelodysplastic Syndrome Acute Myeloid Leukemia, Secondary Acute Non-Lymphoblastic Leukemia Acute Non-Lymphocytic Leukemia Acute Biphenotypic Leukemia Acute Undifferentiated Leukemia Acute Myeloblastic Leukaemia With Multilineage Dysplasia Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission Acute Myeloid Leukaemia With Myelodysplasia-Related Features
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS03287	CTCF Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17635	Ctcf Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24095	Ctcf Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	CTCF	RGD	RGD:621344
Bos taurus	CTCF	VGNC	VGNC:27788
Canis familiaris	CTCF	VGNC	VGNC:39690
Mus musculus	CTCF	MGD	MGI:109447
Macaca mulatta	CTCF	VGNC	VGNC:99504
Others	CTCF	NCBI