DGCR14
Gene Information
- Official Symbol: ESS2
- Official Name: ess-2 splicing factor homolog
- Aliases and Previous Symbols: N/A
- Entrez ID: 8220
- UniProt: Q96DF8
- Interactions: BioGRID
- PubMed articles: Open PubMed
- OMIM: Open OMIM
Function Summary
- Entrez Summary: This gene is located within the minimal DGS critical region (MDGCR) thought to contain the gene(s) responsible for a group of developmental disorders. These disorders include DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, and some familial or sporadic conotruncal cardiac defects which have been associated with microdeletion of 22q11.2. The encoded protein may be a component of C complex spliceosomes, and the orthologous protein in the mouse localizes to the nucleus. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015].
- UniProt Summary: May be involved in pre-mRNA splicing. {ECO:0000250|UniProtKB:P34420}.
CRISPR Data
Essentiality in NALM6
- Essentiality Rank: 1422
- Expression level (log2 read counts): 4.62
DGCR14 Expression in NALM6 Cells: 4.62
