Gene
CELF2
CUGBP Elav-like family member 2
- HGNC 2550↗(opens in a new tab)
- Ensembl gene ENSG00000048740↗(opens in a new tab)
- NCBI Gene 10659↗(opens in a new tab)
Summary
- Cytogenetic location
- 10p14
- Coordinates
- Chromosome 10: 11,017,872–11,336,675 (GRCh38)
- Exons
- 13 exons across 318.8 kb
- Protein
- 521 amino acids
- Also known as
- Etr-3, NAPOR-2, BRUNOL3
- Previous symbols
- CUGBP2
- MANE Select transcript
- ENST00000633077.2NM_001326342.2
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Epilepsy (Full Panel)
- Epilepsy
One of 171 genes linked to it
A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.
- 2 GenCC submitters rate it definitive or strong
How CELF2 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 9.4 kb of the gene's 318.8 kb; 1,566 of those bases code for the protein.
How a genome test reads CELF2
12
positions in CELF2 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 318.8 kb of CELF2, introns included, not only the 9.4 kb of exons.
Genes linked to the same conditions
- AARS1alanyl-tRNA synthetase 1Shares 1 condition
- ABAT4-aminobutyrate aminotransferaseShares 1 condition
- ACTL6Bactin like 6BShares 1 condition
- ADAM22ADAM metallopeptidase domain 22Shares 1 condition
- ALDH7A1aldehyde dehydrogenase 7 family member A1Shares 1 condition
- ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunitShares 1 condition
- AP3B2adaptor related protein complex 3 subunit beta 2Shares 1 condition
- ARHGEF9Cdc42 guanine nucleotide exchange factor 9Shares 1 condition
- ARV1ARV1 fatty acid homeostasis modulatorShares 1 condition
- ARXaristaless related homeoboxShares 1 condition
- ATP1A2ATPase Na+/K+ transporting subunit alpha 2Shares 1 condition
- ATP1A3ATPase Na+/K+ transporting subunit alpha 3Shares 1 condition
Traits linked to CELF2
The Human Phenotype Ontology lists these as features of the rare conditions CELF2 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Delayed speech and language development
- Intellectual disability
- Autism spectrum disorder
- Encephalopathy
- Epilepsy
- Abnormality of coordination
- Decreased reflex response
- Delayed ability to crawl
Show 30 more traits
- Delayed ability to roll over
- Delayed ability to sit
- Delayed ability to walk
- EEG with multifocal slow activity
- Epileptic encephalopathy
- Global developmental delay
- Hypsarrhythmia
- Inability to walk
- Loss of developmental milestones
- Abnormal corpus callosum morphology
- Abnormal gait
- Abnormal myelination
- Ataxia
- Attention deficit
- Autism
- Behavioral abnormality
- Brain degeneration
- Degeneration of cerebrum
- Diminished deep tendon reflex
- Disorder of involuntary muscle movements
- Epileptic spasm
- Impulsivity
- Involuntary movements
- Jerking
- Mental deterioration
- Stereotypical hand wringing
- Tremor
- Unsteady walk
- Ventriculomegaly
- Repeated seizures without recovery between them
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). CELF2 gene: CUGBP Elav-like family member 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/celf2
Dante Labs. CELF2 gene: CUGBP Elav-like family member 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/celf2
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