| Ensembl ID | Symbol | Entrez ID | RBD | RBPome | PRI | Expresion | Pathway | Phenotype | Paralog | Ortholog | GO |
|---|---|---|---|---|---|---|---|---|---|---|---|
This entry is of a family of proteins of approximately 500 residues with alternating regions of low complexity and conservation where the domain similarities are strong. Apart from a predicted coiled-coil domain, no other known functional domains have been characterised. The protein appears to be expressed in the nucleus and particularly highly in the pons sub-region of the brain. The protein is clearly necessary for normal development of the nervous system [1].
This entry represents a family of proteins known variously as DiGeorge syndrome critical region 14 (DGCR14), DiGeorge syndrome protein I (DGSI), ES2 and ESS-2. In yeast the homologue is known as stress response protein Bis1. Proteins in this family consist of approximately 500 residues with alternating regions of low complexity and conservation where the domain similarities are strong. They contain two predicted coiled-coil regions. ESS-2 has been shown to be involved in pre-mRNA splicing [PUBMED:25194163]. Similarly DGCR14 has been shown to be a noncore component of the spliceosome C complex [PUBMED:22365833].
Lindsay EA, Harvey EL, Scambler PJ, Baldini A; , Hum Mol Genet. 1998;7:629-635.: ES2, a gene deleted in DiGeorge syndrome, encodes a nuclear protein and is expressed during early mouse development, where it shares an expression domain with a Goosecoid-like gene. PUBMED:9499415 EPMC:9499415.
