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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CTCFL
CCCTC-binding factor like
Chromosome 20 · 20q13.31
NCBI Gene: 140690Ensembl: ENSG00000124092.13HGNC: HGNC:16234UniProt: A6XGM0
93PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
transcription cis-regulatory region bindingRNA polymerase II cis-regulatory region sequence-specific DNA bindingDNA-binding transcription activator activity, RNA polymerase II-specificDNA bindingplacental retentionsialolithiasiscancermelanoma
✦AI Summary

CTCFL (CTCF-like) is a testis-specific zinc finger protein that functions as a DNA-binding transcription factor and chr20 organizer, primarily active during male germ cell development 1. In normal testis, CTCFL cooperates with the ubiquitously expressed CTCF paralog to regulate testis-specific gene expression essential for spermatogenesis 2. CTCFL epigenetically reprograms CTCF binding sites into active transcriptional start sites by recruiting chr20 remodeling factors like SRCAP and facilitating H2A-to-H2A.Z histone replacement, creating a more relaxed chr20 state 3. This mechanism activates alternative promoters driving cancer-testis genes and long noncoding RNAs. Clinically, CTCFL is aberrantly expressed in numerous cancers where it competitively displaces CTCF from shared DNA binding sites, altering chr20 loops and gene expression patterns that promote oncogenic transcription 42. Ectopic embryonic CTCFL expression causes growth retardation, organ pathologies, and dysregulation of transforming growth factor β pathway signaling 5. As a cancer-testis antigen, CTCFL represents a promising immunotherapeutic target; CTCFL-targeting T-cell receptor therapies have demonstrated potent antitumor activity against breast and ovarian cancers 67. Thus, CTCFL functions as both a developmental regulator in male germline and a deregulated driver of cancer pathogenesis.

Sources cited
1
CTCFL is transiently expressed in pre-meiotic male germ cells and regulates testis-specific genes; aberrantly expressed in cancers
PMID: 32334335
2
CTCFL and CTCF cooperate in spermatogenesis; CTCFL overexpression in cancer competitively binds CTCF sites and alters chromatin architecture
PMID: 39430552
3
CTCFL epigenetically reprograms CTCF binding sites into active promoters by recruiting SRCAP and facilitating H2A.Z incorporation
PMID: 38297316
4
CTCFL and CTCF have distinct zinc finger domains enabling competitive binding to shared sites and unique targeting to regulate transcription and chromatin looping
PMID: 32393311
5
Embryonic CTCFL expression causes growth retardation, organ pathologies, and dysregulation of transforming growth factor β pathway
PMID: 26169830
6
CTCFL/BORIS is a cancer-testis antigen highly expressed in cancer stem cells; CTCFL-targeting immunotherapy shows efficacy in breast cancer models
PMID: 30390146
7
CTCFL-derived peptide-specific T-cell receptors recognize and kill ovarian cancer cells, showing potential for adoptive T-cell therapy
PMID: 37026005
Disease Associationsⓘ20
placental retentionOpen Targets
0.28Weak
sialolithiasisOpen Targets
0.26Weak
cancerOpen Targets
0.12Weak
melanomaOpen Targets
0.09Suggestive
colorectal cancerOpen Targets
0.09Suggestive
azoospermiaOpen Targets
0.09Suggestive
non-small cell lung carcinomaOpen Targets
0.08Suggestive
breast cancerOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.08Suggestive
partial chromosome Y deletionOpen Targets
0.07Suggestive
spermatogenic failure 57Open Targets
0.07Suggestive
spermatogenic failure 50Open Targets
0.07Suggestive
gastric cancerOpen Targets
0.07Suggestive
spermatogenic failure 25Open Targets
0.07Suggestive
spermatogenic failure, X-linked, 2Open Targets
0.07Suggestive
spermatogenic failure 71Open Targets
0.07Suggestive
46,XX testicular disorder of sex developmentOpen Targets
0.07Suggestive
metabolic syndromeOpen Targets
0.07Suggestive
spermatogenic failure 63Open Targets
0.07Suggestive
Testicular regression syndromeOpen Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SMC3Protein interaction100%NIPBLProtein interaction98%PRMT7Protein interaction90%RAD21Protein interaction84%STAG2Protein interaction84%CHD8Protein interaction70%
Tissue Expression6 tissues
Brain
100%
Liver
65%
Ovary
32%
Lung
19%
Heart
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
CTCFLSMC3NIPBLPRMT7RAD21STAG2CHD8
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q8NI51
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.67LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.51 [0.39–0.67]
RankingsWhere CTCFL stands among ~20K protein-coding genes
  • #5,132of 20,598
    Most Researched93 · top quartile
  • #4,923of 17,882
    Most Constrained (LOEUF)0.67
Genes detectedCTCFL
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Predicting 3D genome folding from DNA sequence with Akita.
PMID: 33046897
Nat Methods · 2020
1.00
2
CTCF and CTCFL in cancer.
PMID: 32334335
Curr Opin Genet Dev · 2020
0.90
3
Interaction of CTCF and CTCFL in genome regulation through chromatin architecture during the spermatogenesis and carcinogenesis.
PMID: 39430552
PeerJ · 2024
0.80
4
Targeting CTCFL/BORIS for the immunotherapy of cancer.
PMID: 30390146
Cancer Immunol Immunother · 2018
0.70
5
PRAME and CTCFL-reactive TCRs for the treatment of ovarian cancer.
PMID: 37026005
Front Immunol · 2023
0.60