Department of Molecular, Integrative Physiology, Kansas University Medical Center, Kansas City, KS, USA
CELF2 belongs to the family of RNA binding proteins implicated in mRNA splicing, editing, stability and translation. This gene is encoded in a single large gene spanning over 159 kilo bases located on chromosome 10 p13-p14 (between D10S547 and D10S223). This gene has 14 transcripts (splice variants) and the 3 major splice variants have distinct exon 1. This is an evolutionarily conserved ubiquitously expressed protein. The members of the CELF protein family contain two N-terminal RNA recognition motif (RRM) domains and one C-terminal RRM domain, and a divergent segment of 160-230 amino acids between second and third RRM domains. This divergent domain is unique to CELF2 proteins and has been shown to contain one or more activation molecules required for splicing activity. CELF2 has been shown to bind to the CUG and Au-rich element (ARE) in the target mRNA and shown to be implicated in muscular dystrophy and cancer.
NCBI: 10659 MIM: 602538 HGNC: 2550 Ensembl: ENSG00000048740
dbSNP: 10659 ClinVar: 10659 TCGA: ENSG00000048740 COSMIC: CELF2
Satish Ramalingam ; Shrikant Anant
CELF2 (CUGBP, Elav-like family member 2)
Atlas Genet Cytogenet Oncol Haematol. 2014-05-01
Online version: http://atlasgeneticsoncology.org/gene/52815/css/lib/dataTables.bootstrap.min.css