HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CELF2
CUGBP Elav-like family member 2
Chromosome 10 Β· 10p14
NCBI Gene: 10659Ensembl: ENSG00000048740.19HGNC: HGNC:2550UniProt: A0A0J9YX66
79PubMed Papers
21Diseases
0Drugs
15Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nucleoplasmRNA bindingpre-mRNA bindingmRNA splice site recognitiondevelopmental and epileptic encephalopathy 97Neurodevelopmental disordersmoking initiationnon-Hodgkins lymphoma
✦AI Summary

CELF2 is an RNA-binding protein that regulates post-transcriptional gene expression through multiple mechanisms. Functionally, CELF2 modulates alternative pre-mRNA splicing, mRNA stability, and translation by binding to UG-rich and AU-rich sequence motifs 1. It specifically regulates tissue-specific splicing events, including TNNT2 exon 5 inclusion in embryonic muscle and smooth muscle-specific actinin exon inclusion [UniProt]. CELF2 also negatively regulates miRNA biogenesis by binding pri-MIR140 [UniProt]. CLINICALLY, CELF2 dysregulation is implicated in multiple disease contexts. Loss of CELF2 promotes acute myeloid leukemia development by stabilizing FAT10 mRNA and activating mTORC1 signaling 2. Conversely, CELF2 acts as a tumor suppressor in bladder cancer by decreasing CXCL5 mRNA stability 3 and in colorectal cancer by inducing autophagy-mediated cell death 4. CELF2 is downregulated in various cancers and associated with poor prognosis 5. Additionally, CELF2 mutations cause neurodevelopmental disorders; heterozygous CELF2 variants are linked to developmental and epileptic encephalopathy 6, and Celf2 deficiency in mice produces autism-like behaviors with impaired dendritic spine and synapse development 7. CELF2 overexpression may also benefit diabetes-induced erectile dysfunction through enhanced angiogenesis 8.

Sources cited
1
CELF2 loss promotes acute myeloid leukemia by stabilizing FAT10 mRNA and activating mTORC1 signaling
PMID: 38514854
2
CELF2 is downregulated in various cancers and associated with poor patient prognosis
PMID: 37594127
3
Heterozygous CELF2 missense variant causes neurodevelopmental defects
PMID: 38364506
4
CELF2 overexpression enhances angiogenesis and immune response genes relevant to diabetes-induced erectile dysfunction
PMID: 40692719
5
Celf2 deficiency produces autism-like behaviors with reduced dendritic spine density and impaired synaptic maturation
PMID: 38829512
6
CELF2 decreases CXCL5 mRNA stability and suppresses bladder cancer progression
PMID: 40154776
7
CELF family members regulate posttranscriptional processes and are implicated in neurodevelopmental disorders
PMID: 38729272
8
CELF2 induces autophagy-mediated colorectal cancer cell death and potentiates radiotherapy effects
PMID: 31020708
Disease Associationsβ“˜21
developmental and epileptic encephalopathy 97Open Targets
0.72Strong
Neurodevelopmental disorderOpen Targets
0.44Moderate
smoking initiationOpen Targets
0.41Moderate
non-Hodgkins lymphomaOpen Targets
0.38Weak
undetermined early-onset epileptic encephalopathyOpen Targets
0.37Weak
lymphatic system cancerOpen Targets
0.37Weak
major depressive disorderOpen Targets
0.36Weak
retinopathyOpen Targets
0.35Weak
open-angle glaucomaOpen Targets
0.34Weak
Respiratory insufficiencyOpen Targets
0.34Weak
squamous cell carcinomaOpen Targets
0.33Weak
polycythemia veraOpen Targets
0.32Weak
mathematical abilityOpen Targets
0.31Weak
attention deficit hyperactivity disorderOpen Targets
0.31Weak
substance abuseOpen Targets
0.31Weak
phosphorus metabolism diseaseOpen Targets
0.30Weak
dysthymic disorderOpen Targets
0.29Weak
basal cell carcinomaOpen Targets
0.29Weak
gastrointestinal diseaseOpen Targets
0.29Weak
HypercholesterolemiaOpen Targets
0.29Weak
Developmental and epileptic encephalopathy 97UniProt
Pathogenic Variants15
NM_001326342.2(CELF2):c.709C>T (p.Gln237Ter)Pathogenic
not provided|Developmental and epileptic encephalopathy 97|Neurodevelopmental disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 237
NM_001326342.2(CELF2):c.1516C>T (p.Arg506Cys)Pathogenic
not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 506
NM_001326342.2(CELF2):c.1412_1415del (p.Lys471fs)Likely pathogenic
Developmental and epileptic encephalopathy 97
β˜…β˜†β˜†β˜†2025β†’ Residue 471
NM_001326342.2(CELF2):c.1538G>A (p.Arg513His)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 513
NM_001326342.2(CELF2):c.241_262dup (p.Gln88fs)Likely pathogenic
Developmental and epileptic encephalopathy 97
β˜…β˜†β˜†β˜†2024β†’ Residue 88
NM_001326342.2(CELF2):c.883del (p.Ala295fs)Pathogenic
Developmental and epileptic encephalopathy 97
β˜…β˜†β˜†β˜†2024β†’ Residue 295
NM_001326342.2(CELF2):c.938_939del (p.Ser313fs)Likely pathogenic
Developmental and epileptic encephalopathy 97
β˜…β˜†β˜†β˜†2024β†’ Residue 313
NM_001326342.2(CELF2):c.1517G>T (p.Arg506Leu)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 506
NM_001326342.2(CELF2):c.1353del (p.Asp451fs)Pathogenic
Developmental and epileptic encephalopathy 97
β˜…β˜†β˜†β˜†2022β†’ Residue 451
NM_001326342.2(CELF2):c.1563C>G (p.Tyr521Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 521
NM_001326342.2(CELF2):c.1517G>A (p.Arg506His)Pathogenic
Developmental and epileptic encephalopathy 97
β˜…β˜†β˜†β˜†2021β†’ Residue 506
NM_001326342.2(CELF2):c.1562dup (p.Tyr521Ter)Pathogenic
Developmental and epileptic encephalopathy 97
β˜…β˜†β˜†β˜†2020β†’ Residue 521
NM_001326342.2(CELF2):c.977-2A>TLikely pathogenic
CELF2-related disorder
β˜†β˜†β˜†β˜†2023
NM_001326342.2(CELF2):c.1516C>G (p.Arg506Gly)Pathogenic
Developmental and epileptic encephalopathy 97
β˜†β˜†β˜†β˜†2021β†’ Residue 506
NM_001326342.2(CELF2):c.1558C>T (p.Pro520Ser)Pathogenic
Developmental and epileptic encephalopathy 97
β˜†β˜†β˜†β˜†2021β†’ Residue 520
View on ClinVar β†—
Related Genes

No related genes found for this gene.

Tissue Expression6 tissues
Bone Marrow
100%
Heart
77%
Brain
76%
Lung
73%
Ovary
55%
Liver
5%
Gene Interaction Network

No interaction data available for this gene.

PROTEIN STRUCTURE
Preparing viewer…
PDB9URH Β· 1.82 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.29Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.16 [0.10–0.29]
RankingsWhere CELF2 stands among ~20K protein-coding genes
  • #5,984of 20,598
    Most Researched79
  • #2,454of 5,498
    Most Pathogenic Variants15
  • #1,092of 17,882
    Most Constrained (LOEUF)0.29 Β· top 10%
Genes detectedCELF2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Loss of RNA-binding protein CELF2 promotes acute leukemia development via FAT10-mTORC1.
PMID: 38514854
Oncogene Β· 2024
1.00
2
Role of CELF2 in ferroptosis: Potential targets for cancer therapy (Review).
PMID: 37594127
Int J Mol Med Β· 2023
0.90
3
Generation and characterization of a human iPSC line and gene-corrected isogenic line derived from a patient with a CELF2 gene mutation.
PMID: 38364506
Stem Cell Res Β· 2024
0.80
4
Gene expression profiling of human umbilical vein endothelial cells overexpressing CELF2 as diagnostic targets in diabetes-induced erectile dysfunction.
PMID: 40692719
Front Mol Biosci Β· 2025
0.70
5
CELF2 Deficiency Demonstrates Autism-Like Behaviors and Interferes with Late Development of Cortical Neurons in Mice.
PMID: 38829512
Mol Neurobiol Β· 2025
0.60