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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CSDE1
cold shock domain containing E1
Chromosome 1 Β· 1p13.2
NCBI Gene: 7812Ensembl: ENSG00000009307.18HGNC: HGNC:29905UniProt: O75534
215PubMed Papers
20Diseases
0Drugs
17Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
RESEARCH IMPACT
Trending
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
RNA bindingcytosolCRD-mediated mRNA stability complexIRES-dependent viral translational initiationneurodegenerative diseasegenetic disordercomplex neurodevelopmental disorderautism
✦AI Summary

CSDE1 (Cold Shock Domain Containing E1) is an RNA-binding protein that functions as a critical regulator of translational reprogramming and mRNA metabolism. The protein exhibits bidirectional regulatory activity, both promoting and repressing RNA translation while modulating RNA abundance through a proposed 'protein-RNA connector' model, where CSDE1 forms triple complexes with other regulatory proteins and target RNAs 1. CSDE1 is essential for stress granule formation, serving as a core component required for assembly of these membraneless structures under cellular stress conditions 2. In hematopoietic development, CSDE1 plays specialized roles including regulation of miR-451 biogenesis in erythroid cells by binding the microRNA and facilitating AGO2 processing, as well as interacting with PARN to promote trimming to mature length 3. The protein also controls plasma cell differentiation through a complex with Strap, coupling mRNA translation and decay of Bach2, a key transcriptional regulator, to establish proper expression kinetics during B cell fate determination 4. In cancer biology, CSDE1 enhances genotoxic drug resistance by upregulating DNA repair pathways and forming regulatory complexes with eIF3a and RPA2 mRNA 5. Additionally, CSDE1 has been identified as a somatically mutated driver gene in pheochromocytomas and paragangliomas 6 and affects interneuron generation during human neurodevelopment 7.

Sources cited
1
CSDE1 exhibits bidirectional regulatory activity and functions through a 'protein-RNA connector' model forming triple complexes
PMID: 31987048
2
CSDE1 is a core component required for stress granule formation
PMID: 29395067
3
CSDE1 regulates miR-451 biogenesis by binding the microRNA and facilitating AGO2 processing
PMID: 37493604
4
CSDE1-Strap complex controls plasma cell differentiation by coupling Bach2 mRNA translation and decay
PMID: 40133358
5
CSDE1 enhances genotoxic drug resistance through DNA repair pathway upregulation and eIF3a-RPA2 complex formation
PMID: 40398074
6
CSDE1 identified as a somatically mutated driver gene in pheochromocytomas and paragangliomas
PMID: 28162975
7
CSDE1 affects interneuron generation during human neurodevelopment
PMID: 37758944
Disease Associationsβ“˜20
neurodegenerative diseaseOpen Targets
0.55Moderate
genetic disorderOpen Targets
0.49Moderate
complex neurodevelopmental disorderOpen Targets
0.40Weak
autismOpen Targets
0.37Weak
Intellectual disabilityOpen Targets
0.37Weak
Global developmental delayOpen Targets
0.37Weak
melanomaOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
triple-negative breast cancerOpen Targets
0.07Suggestive
breast cancerOpen Targets
0.05Suggestive
cancerOpen Targets
0.03Suggestive
colorectal cancerOpen Targets
0.03Suggestive
infectionOpen Targets
0.03Suggestive
viral diseaseOpen Targets
0.02Suggestive
non-small cell lung carcinomaOpen Targets
0.01Suggestive
Diamond-Blackfan anemiaOpen Targets
0.01Suggestive
Neurodevelopmental disorderOpen Targets
0.01Suggestive
Neurodevelopmental delayOpen Targets
0.01Suggestive
Pathogenic Variants17
NM_001007553.3(CSDE1):c.439G>T (p.Glu147Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 147
NM_001007553.3(CSDE1):c.422_423insAA (p.Tyr141Ter)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 141
NM_001007553.3(CSDE1):c.2066_2069del (p.Asn689fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 689
NM_001007553.3(CSDE1):c.883A>T (p.Lys295Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 295
NM_001007553.3(CSDE1):c.775dup (p.Ser259fs)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 259
NM_001007553.3(CSDE1):c.1042C>T (p.Arg348Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 348
NM_001007553.3(CSDE1):c.1214A>C (p.Asn405Thr)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 405
NM_001007553.3(CSDE1):c.598A>T (p.Ile200Phe)Likely pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2024β†’ Residue 200
NM_001007553.3(CSDE1):c.472_476del (p.Ile158fs)Likely pathogenic
CSDE1-related neurodevelopmental disorder
β˜…β˜†β˜†β˜†2024β†’ Residue 158
NM_001007553.3(CSDE1):c.2153dup (p.Phe719fs)Likely pathogenic
CSDE1-associated disorder
β˜…β˜†β˜†β˜†2023β†’ Residue 719
NM_001007553.3(CSDE1):c.1-1710delPathogenic
not provided
β˜…β˜†β˜†β˜†2022
NM_001007553.3(CSDE1):c.161C>G (p.Ser54Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 54
NM_001007553.3(CSDE1):c.500+1G>CPathogenic
not provided
β˜…β˜†β˜†β˜†2022
NM_001007553.3(CSDE1):c.1-1700dupPathogenic
not provided
β˜…β˜†β˜†β˜†2021
NM_001007553.3(CSDE1):c.2134C>T (p.Gln712Ter)Likely pathogenic
CSDE1-associated disorder
β˜…β˜†β˜†β˜†2020β†’ Residue 712
NM_001007553.3(CSDE1):c.638A>G (p.Tyr213Cys)Likely pathogenic
not provided
β˜†β˜†β˜†β˜†2024β†’ Residue 213
NM_001007553.3(CSDE1):c.1-1636G>TLikely pathogenic
not provided
β˜†β˜†β˜†β˜†2021
View on ClinVar β†—
Related Genes
STRAPProtein interaction100%PABPC4Protein interaction99%CAPRIN1Protein interaction99%DHX9Protein interaction93%HNRNPUProtein interaction93%G3BP1Protein interaction86%
Tissue Expression6 tissues
Heart
100%
Brain
61%
Lung
39%
Bone Marrow
33%
Ovary
32%
Liver
19%
Gene Interaction Network
Click a node to explore
CSDE1STRAPPABPC4CAPRIN1DHX9HNRNPUG3BP1
PROTEIN STRUCTURE
Preparing viewer…
PDB1WFQ Β· NMR
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.29Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.19 [0.13–0.29]
RankingsWhere CSDE1 stands among ~20K protein-coding genes
  • #1,928of 20,598
    Most Researched215 Β· top 10%
  • #2,319of 5,498
    Most Pathogenic Variants17
  • #1,098of 17,882
    Most Constrained (LOEUF)0.29 Β· top 10%
Genes detectedCSDE1
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Comprehensive Molecular Characterization of Pheochromocytoma and Paraganglioma.
PMID: 28162975
Cancer Cell Β· 2017
1.00
2
The role of CSDE1 in translational reprogramming and human diseases.
PMID: 31987048
Cell Commun Signal Β· 2020
0.90
3
Assembloid CRISPR screens reveal impact of disease genes in human neurodevelopment.
PMID: 37758944
Nature Β· 2023
0.80
4
High-Density Proximity Mapping Reveals the Subcellular Organization of mRNA-Associated Granules and Bodies.
PMID: 29395067
Mol Cell Β· 2018
0.70
5
CSDE1 enhances genotoxic drug resistance in cancer by modulating RPA2 through CSDE1-eIF3a regulatory complex.
PMID: 40398074
Drug Resist Updat Β· 2025
0.60