CELF2 Chromosome 10
CUGBP Elav-like family member 2
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What This Gene Does
Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
RNA binding motif containing
Locus Type
gene with protein product
Location
10p14
Ensembl
ENSG00000048740
Associated Conditions (3)
CELF2-related disorder
Developmental and epileptic encephalopathy 97
Neurodevelopmental disorder
Key Variants
RS201674366
Likely pathogenic
CELF2-related disorder, CELF2-related disorder
Health Risk
RS2132555667
Pathogenic
Developmental and epileptic encephalopathy 97, Developmental and epileptic encephalopathy 97
Health Risk
RS2132785456
Pathogenic
Developmental and epileptic encephalopathy 97, Developmental and epileptic encephalopathy 97
Health Risk
RS2132786780
Pathogenic
Developmental and epileptic encephalopathy 97, Developmental and epileptic encephalopathy 97
Health Risk
RS2132786873
Pathogenic
Developmental and epileptic encephalopathy 97, Developmental and epileptic encephalopathy 97
Health Risk
RS764892258
Pathogenic
Health Risk
RS2132785331
Pathogenic/Likely pathogenic
Developmental and epileptic encephalopathy 97, Developmental and epileptic encephalopathy 97
Health Risk
RS2138616482
Pathogenic/Likely pathogenic
Developmental and epileptic encephalopathy 97, Neurodevelopmental disorder, Developmental and epileptic encephalopathy 97
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS201674366 | Health Risk | Likely pathogenic | CELF2-related disorder, CELF2-related disorder |
| RS2132555667 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 97, Developmental and epileptic encephalopathy 97 |
| RS2132785456 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 97, Developmental and epileptic encephalopathy 97 |
| RS2132786780 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 97, Developmental and epileptic encephalopathy 97 |
| RS2132786873 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 97, Developmental and epileptic encephalopathy 97 |
| RS764892258 | Health Risk | Pathogenic | — |
| RS2132785331 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy 97, Developmental and epileptic encephalopathy 97 |
| RS2138616482 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy 97, Neurodevelopmental disorder, Developmental and epileptic encephalopathy 97 |