Gene: CELF2

Alternate names for this Gene: BRUNOL3|CELF-2|CUG-BP2|CUGBP2|ETR-3|ETR3|NAPOR

Gene Summary: 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.

Gene is located in Chromosome: 10

Location in Chromosome : 10p14

Description of this Gene: CUGBP Elav-like family member 2

Type of Gene: protein-coding

rs11257029 in CELF2 gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs192238733 in CELF2 gene and Adverse effects, not elsewhere classified PMID 30420678 2019 Genetic variation in the Estonian population: pharmacogenomics study of adverse drug effects using electronic health records.

rs201099 in CELF2 gene and Alzheimer's Disease PMID 21379329 2011 Genome-wide association of familial late-onset Alzheimer's disease replicates BIN1 and CLU and nominates CUGBP2 in interaction with APOE.

rs596406 in CELF2 gene and Aspartate aminotransferase measurement PMID 24124411 2013 Genome-wide association study of liver enzymes in korean children.

rs769354275 in CELF2 gene and Kidney Failure, Chronic PMID 31015462 2019 Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.

rs10752212 in CELF2 gene and Motion Sickness PMID 25628336 2015 Genetic variants associated with motion sickness point to roles for inner ear development, neurological processes and glucose homeostasis.

rs2765974 in CELF2 gene and Rheumatoid Arthritis PMID 31407831 2019 Genetic overlap between autoimmune diseases and non-Hodgkin lymphoma subtypes.

rs11257029 in CELF2 gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs11256837 in CELF2 gene and Systolic Pressure PMID 30578418 2019 Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.

rs7904832 in CELF2 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.