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26 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CNBP
CCHC-type zinc finger nucleic acid binding protein
Chromosome 3 · 3q21.3
NCBI Gene: 7555Ensembl: ENSG00000169714.18HGNC: HGNC:13164UniProt: A0A0S2Z4K2
158PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
G-quadruplex DNA formationRNA bindingprotein bindingG-quadruplex DNA bindingmyotonic dystrophy type 2Proximal myotonic myopathymyotonic dystrophybreast ductal adenocarcinoma
✦AI Summary

CNBP (CCHC-type zinc finger nucleic acid binding protein) is a conserved single-stranded nucleic acid binding protein that functions as both a transcriptional and translational regulator 1. The protein acts as a nucleic acid chaperone, remodeling G-rich secondary structures in DNA and RNA to regulate gene expression 2. CNBP participates in multiple cellular processes including ribosome biogenesis, cell proliferation control, and neural development 31. In disease contexts, expansions of CCTG repeats in the CNBP gene cause myotonic dystrophy type 2 (DM2), a multisystem disorder affecting skeletal muscle, heart, and brain 45. Reduced CNBP levels in DM2 contribute to brain atrophy and neuromotor defects 5. Beyond DM2, CNBP has broader clinical relevance: it restricts SARS-CoV-2 replication during infection 6, and elevated CNBP expression drives neuroblastoma progression through phase separation-mediated modulation of ribosome biogenesis 3. CNBP also participates in monocyte trained immunity following myocardial infarction, contributing to accelerated atherosclerosis 7. Post-translational modifications regulate CNBP localization and activity, with AMPK-dependent phosphorylation affecting protein stability 5. The protein's diverse roles suggest it integrates multiple cellular signaling pathways.

Sources cited
1
CNBP acts as transcriptional and translational regulator; remodels single-stranded nucleic acid secondary structures; required for neural and heart development; linked to neurodegenerative and tumor processes
PMID: 34474118
2
CNBP is a nucleic acid chaperone involved in craniofacial development and DM2/sIBM; catalyzes rearrangement of G-rich secondary structures; controls cell death and proliferation
PMID: 20960530
3
Myotonic dystrophy type 2 is caused by CCTG expansions and mediated by RNA disorder (spliceopathy); CNBP gene is involved
PMID: 33458578
4
CCTG repeats in CNBP intron 1 cause DM2; reduced CNBP causes brain atrophy, neuromotor defects; AMPK-dependent phosphorylation regulates CNBP stability
PMID: 39807631
5
CNBP restricts SARS-CoV-2 replication; identified as strongly enriched viral RNA binder in infected cells
PMID: 33349665
6
CNBP drives neuroblastoma progression through phase separation; regulates ribosome biogenesis via SWI/SNF complex modulation
PMID: 37186134
7
CNBP expression elevated in monocytes after myocardial infarction; participates in trained immunity contributing to accelerated atherosclerosis
PMID: 38085922
Disease Associationsⓘ21
myotonic dystrophy type 2Open Targets
0.60Moderate
Proximal myotonic myopathyOpen Targets
0.60Moderate
myotonic dystrophyOpen Targets
0.38Weak
breast ductal adenocarcinomaOpen Targets
0.37Weak
carcinoma of liver and intrahepatic biliary tractOpen Targets
0.37Weak
hepatocellular carcinomaOpen Targets
0.28Weak
multiple myelomaOpen Targets
0.28Weak
lung adenocarcinomaOpen Targets
0.28Weak
pancreatic ductal adenocarcinomaOpen Targets
0.28Weak
acute myeloid leukemiaOpen Targets
0.28Weak
bile duct carcinomaOpen Targets
0.28Weak
cervical squamous cell carcinomaOpen Targets
0.28Weak
chronic lymphocytic leukemiaOpen Targets
0.28Weak
colon adenocarcinomaOpen Targets
0.28Weak
colorectal adenocarcinomaOpen Targets
0.28Weak
esophageal adenocarcinomaOpen Targets
0.28Weak
gastric carcinomaOpen Targets
0.28Weak
Hepatobiliary NeoplasmOpen Targets
0.28Weak
skin basal cell carcinomaOpen Targets
0.28Weak
Uterine CarcinosarcomaOpen Targets
0.28Weak
Dystrophia myotonica 2UniProt
Pathogenic Variants1
NM_003418.5(CNBP):c.-14-833_-14-806CCTG[(75_11000)]Pathogenic
Myotonic dystrophy type 2
☆☆☆☆2008
View on ClinVar ↗
Related Genes
CELF1Protein interaction99%CLCN1Protein interaction96%DMPKProtein interaction96%MBNL1Protein interaction96%HNRNPKProtein interaction86%HNRNPA1Protein interaction86%
Tissue Expression6 tissues
Heart
100%
Brain
64%
Ovary
57%
Lung
54%
Liver
51%
Bone Marrow
29%
Gene Interaction Network
Click a node to explore
CNBPCELF1CLCN1DMPKMBNL1HNRNPKHNRNPA1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P62633
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.54Moderately Constrained
pLIⓘ
0.95Intolerant
Observed/Expected LoF0.27 [0.15–0.54]
RankingsWhere CNBP stands among ~20K protein-coding genes
  • #2,843of 20,598
    Most Researched158 · top quartile
  • #4,769of 5,498
    Most Pathogenic Variants1
  • #3,423of 17,882
    Most Constrained (LOEUF)0.54 · top quartile
Genes detectedCNBP
Sources retrieved26 papers
Response time—
📄 Sources
26▼
1
Myocardial infarction drives trained immunity of monocytes, accelerating atherosclerosis.
PMID: 38085922
Eur Heart J · 2024
1.00
2
Myotonic dystrophy type 2: the 2020 update.
PMID: 33458578
Acta Myol · 2020
0.90
3
Optical genome mapping enables accurate testing of large repeat expansions.
PMID: 40113266
Genome Res · 2025
0.84
4
The SARS-CoV-2 RNA-protein interactome in infected human cells.
PMID: 33349665
Nat Microbiol · 2021
0.80
5
What's new about CNBP? Divergent functions and activities for a conserved nucleic acid binding protein.
PMID: 34474118
Biochim Biophys Acta Gen Subj · 2021
0.70