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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CSTF2
cleavage stimulation factor subunit 2
Chromosome X · Xq22.1
NCBI Gene: 1478Ensembl: ENSG00000101811.15HGNC: HGNC:2484UniProt: B3V096
143PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nuclear bodymRNA cleavage and polyadenylation specificity factor complexnucleoplasmcleavage bodydengue diseaseintellectual developmental disorder, X-linked 113Intellectual disabilityhepatocellular carcinoma
✦AI Summary

CSTF2 (cleavage stimulation factor subunit 2) is an RNA-binding protein essential for 3'-end cleavage and polyadenylation of mammalian pre-mRNAs 1. The protein contains an RNA recognition motif (RRM) that binds to downstream U- or G/U-rich sequences through electrostatic interactions, which are the dominant factor in RNA binding 2. Beyond its canonical role in mRNA processing, CSTF2 functions as an m6A regulator that co-transcriptionally controls m6A modification by slowing RNA polymerase II elongation during transcription 3. The protein regulates alternative polyadenylation by shortening 3' untranslated regions, which can lead to loss of m6A modification sites and affect mRNA stability 4. CSTF2 is overexpressed in multiple cancers including hepatocellular carcinoma, pancreatic cancer, and breast cancer, where it promotes tumor progression 5. In hepatocellular carcinoma, CSTF2 supports hypoxia tolerance by enhancing glycolysis through PGK1 upregulation 4. The protein also suppresses anti-tumor immunity in pancreatic cancer by inhibiting innate αβ T cell infiltration 6. A missense mutation (D50A) in CSTF2's RRM domain causes X-linked intellectual disability by altering polyadenylation sites in over 1300 brain development genes 1. CSTF2 interacts with the polyadenylation machinery and ADAR1, suggesting roles in epitranscriptomic regulation 7.

Sources cited
1
CSTF2 is essential for mRNA cleavage and polyadenylation, and a D50A mutation causes X-linked intellectual disability
PMID: 32816001
2
CSTF2 RRM binds U/GU-rich sequences through electrostatic interactions
PMID: 35090899
3
CSTF2 functions as an m6A regulator controlling transcriptional m6A modification
PMID: 37816727
4
CSTF2 supports hypoxia tolerance in hepatocellular carcinoma through PGK1 regulation
PMID: 39514400
5
CSTF2 is overexpressed in multiple cancers and promotes tumor progression
PMID: 38166492
6
CSTF2 suppresses anti-tumor immunity in pancreatic cancer
PMID: 39972059
7
CSTF2 interacts with ADAR1 and the polyadenylation machinery
PMID: 40381037
Disease Associationsⓘ21
dengue diseaseOpen Targets
0.37Weak
intellectual developmental disorder, X-linked 113Open Targets
0.36Weak
Intellectual disabilityOpen Targets
0.19Weak
hepatocellular carcinomaOpen Targets
0.10Weak
neoplasmOpen Targets
0.10Suggestive
cancerOpen Targets
0.09Suggestive
gastric cancerOpen Targets
0.06Suggestive
oral squamous cell carcinomaOpen Targets
0.03Suggestive
non-small cell lung carcinomaOpen Targets
0.02Suggestive
lung cancerOpen Targets
0.02Suggestive
laryngotracheoesophageal cleftOpen Targets
0.02Suggestive
infectionOpen Targets
0.02Suggestive
liver cancerOpen Targets
0.02Suggestive
bladder transitional cell carcinomaOpen Targets
0.02Suggestive
liver neoplasmOpen Targets
0.02Suggestive
urinary bladder carcinomaOpen Targets
0.01Suggestive
hearing lossOpen Targets
0.01Suggestive
renal fibrosisOpen Targets
0.01Suggestive
glioblastomaOpen Targets
0.01Suggestive
triple-negative breast cancerOpen Targets
0.01Suggestive
Intellectual developmental disorder, X-linked 113UniProt
Pathogenic Variants1
NM_001325.3(CSTF2):c.149A>C (p.Asp50Ala)Pathogenic
Intellectual developmental disorder, X-linked 113
☆☆☆☆2024→ Residue 50
View on ClinVar ↗
Related Genes
TSEN34Protein interaction100%TSEN54Protein interaction100%TSEN15Protein interaction100%CPSF1Protein interaction100%BARD1Protein interaction100%PABPN1Protein interaction99%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
55%
Brain
54%
Lung
41%
Ovary
39%
Liver
30%
Gene Interaction Network
Click a node to explore
CSTF2TSEN34TSEN54TSEN15CPSF1BARD1PABPN1
PROTEIN STRUCTURE
Preparing viewer…
PDB1P1T · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.32Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.18 [0.10–0.32]
RankingsWhere CSTF2 stands among ~20K protein-coding genes
  • #3,192of 20,598
    Most Researched143 · top quartile
  • #4,783of 5,498
    Most Pathogenic Variants1
  • #1,270of 17,882
    Most Constrained (LOEUF)0.32 · top 10%
Genes detectedCSTF2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
CSTF2 mediated mRNA N
PMID: 37816727
Nat Commun · 2023
1.00
2
The role of CSTF2 in cancer: from technology to clinical application.
PMID: 38166492
Cell Cycle · 2023
0.90
3
CSTF2 Supports Hypoxia Tolerance in Hepatocellular Carcinoma by Enabling m6A Modification Evasion of PGK1 to Enhance Glycolysis.
PMID: 39514400
Cancer Res · 2025
0.80
4
CSTF2-impeded innate αβ T cell infiltration and activation exacerbate immune evasion of pancreatic cancer.
PMID: 39972059
Cell Death Differ · 2025
0.70
5
Electrostatic Interactions between CSTF2 and pre-mRNA Drive Cleavage and Polyadenylation.
PMID: 35090899
Biophys J · 2022
0.60