Ctcf MGI Mouse Gene Detail - MGI:109447

Symbol

Ctcf
Name

CCCTC-binding factor

Feature Type

protein coding gene
IDs

MGI:109447
NCBI Gene: 13018
Alliance

gene page
Transcription Start Sites

8 TSS

Sequence Map

Chr8:106363200-106409554 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 8, 53.04 cM
Mapping Data

1 experiment

SNPs within 2kb

771 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_109447	protein coding gene	Chr8:106351135-106409554 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0034052	protein coding gene	Chr8:107935656-107983881 (+)
A/J	MGP_AJ_G0034033	protein coding gene	Chr8:103621728-103669148 (+)
AKR/J	MGP_AKRJ_G0033959	protein coding gene	Chr8:106621948-106670122 (+)
BALB/cJ	MGP_BALBcJ_G0034026	protein coding gene	Chr8:103813285-103859658 (+)
C3H/HeJ	MGP_C3HHeJ_G0033738	protein coding gene	Chr8:107362163-107410908 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0034546	protein coding gene	Chr8:111900824-111951945 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0031488	protein coding gene	Chr8:96757910-96806634 (+)
CAST/EiJ	MGP_CASTEiJ_G0033064	protein coding gene	Chr8:106861016-106910671 (+)
CBA/J	MGP_CBAJ_G0033711	protein coding gene	Chr8:115496375-115547151 (+)
DBA/2J	MGP_DBA2J_G0033866	protein coding gene	Chr8:102970387-103016600 (+)
FVB/NJ	MGP_FVBNJ_G0033812	protein coding gene	Chr8:101897586-101945397 (+)
LP/J	MGP_LPJ_G0033957	protein coding gene	Chr8:108142244-108192927 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0033855	protein coding gene	Chr8:118693622-118743563 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0034564	protein coding gene	Chr8:106585717-106634048 (+)
PWK/PhJ	MGP_PWKPhJ_G0032765	protein coding gene	Chr8:102358222-102406798 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0032606	protein coding gene	Chr8:105267750-105314241 (+)
WSB/EiJ	MGP_WSBEiJ_G0033180	protein coding gene	Chr8:107252357-107303677 (+)

Human Ortholog

CTCF, CCCTC-binding factor

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CTCF, CCCTC-binding factor
Synonyms

CFAP108, FAP108, MRD21
Links

HGNC:13723

NCBI Gene ID: 10664

neXtProt AC: NX_P49711

UniProt: P49711
Chr Location

16q22.1; chr16:67562467-67639185 (+) GRCh38

MGI Vertebrate Homology

Ctcf stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: CTCF
Gene Tree

Ctcf

Diseases

5 with human CTCF associations

				Human Disease	Mouse Models
				autosomal dominant intellectual developmental disorder 21 IDs autosomal dominant intellectual developmental disorder 21 DOID:0070051 OMIM:615502
				basal cell carcinoma IDs basal cell carcinoma DOID:2513 DOID:4275 DOID:4276 EFO:0004193 KEGG:05217 MESH:D018295 NCI:C156767 NCI:C3784 NCI:C7586 UMLS_CUI:C0007117 UMLS_CUI:C0206710 UMLS_CUI:C1368295
				female breast cancer IDs female breast cancer DOID:0050671
				skin melanoma IDs skin melanoma DOID:8923 DOID:0050609 DOID:10043 DOID:10046 DOID:10051 DOID:10052 DOID:10055 DOID:8922 ICD10CM:C43.9 ICD9CM:172 ICD9CM:172.0 ICD9CM:172.2 ICD9CM:172.4 ICD9CM:172.5 ICD9CM:172.9 MESH:C562393 NCI:C3510 OMIM:608035 OMIM:612263 UMLS_CUI:C0151779
				skin squamous cell carcinoma IDs skin squamous cell carcinoma DOID:3151 NCI:C4819 UMLS_CUI:C0553723

Click on a disease name to see all genes associated with that disease.

less

Phenotype Summary

31 phenotypes from 4 alleles in 3 genetic backgrounds
7 phenotypes from multigenic genotypes
1 images
65 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

152
Endonuclease-mediated

5
Gene trapped

135
Targeted

11
Transgenic

1
Genomic Mutations

1 involving Ctcf
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

80 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a null allele die prior to implantation. Mice homozygous for a conditional allele activated in T cells exhibit a defect in the transition from immature single positive T cells to double positive T cells. Heterozygosity for the p.R567W mutation leads to thin body, while homozygosity affects heart, lung and neuronal development, leading to death shortly after birth.

less

All GO Annotations

72
GO References

25

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

less

Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

1040
Tissues

228
cDNA Data

165
Literature Summary

21

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA CTCF

Xenbase ctcf

ZFIN ctcf

less

All Sequences

87
RefSeq

38
UniProt

5
CCDS

CCDS22606.1

Ensembl

ENSMUSG00000005698 (Evidence)
NCBI Gene

13018

			Length	Strain/Species	Flank
genomic	ENSMUSG00000005698	Ensembl Gene Model \| MGI Sequence Detail	46355	C57BL/6J	± kb
transcript	ENSMUST00000005841	Ensembl \| MGI Sequence Detail	3782	Not Applicable
polypeptide	ENSMUSP00000005841	Ensembl \| MGI Sequence Detail	736	Not Applicable

less

UniProt

5 Sequences
Protein Ontology

PR:000005997 transcriptional repressor CTCF

(term hierarchy)
InterPro Domains

IPR050636 C2H2-type zinc finger domain-containing protein

IPR050752 C2H2-type zinc-finger domain-containing protein

IPR050331 Zinc finger

IPR036236 Zinc finger C2H2 superfamily

IPR013087 Zinc finger C2H2-type

less

All nucleic 171

cDNA 166

Primer pair 5

Microarray probesets 4

less

MGD-MRK-38492, MGI:2142760

Summaries

All 188

Developmental Gene Expression 21

Gene Ontology 25

Phenotypes 65
Earliest

J:33964 Filippova GN, et al., An exceptionally conserved transcriptional repressor, CTCF, employs different combinations of zinc fingers to bind diverged promoter sequences of avian and mammalian c-myc oncogenes. Mol Cell Biol. 1996 Jun;16(6):2802-13
Latest

J:350502 Zhang J, et al., CTCF mutation at R567 causes developmental disorders via 3D genome rearrangement and abnormal neurodevelopment. Nat Commun. 2024 Jul 1;15(1):5524

TSS for Ctcf:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr79169	Chr8:106362413-106362434 (+)	-776 bp
Tssr79170	Chr8:106363120-106363131 (+)	-74 bp
Tssr79171	Chr8:106363141-106363221 (+)	-19 bp
Tssr79172	Chr8:106363222-106363244 (+)	33 bp
Tssr79173	Chr8:106363558-106363611 (+)	385 bp
Tssr79174	Chr8:106375951-106375955 (+)	12,753 bp
Tssr79175	Chr8:106390799-106390811 (+)	27,605 bp
Tssr2677	Chr8:106390929-106390944 (+)	27,737 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/19/2024 MGI 6.24