Ess2 - ess-2 splicing factor Gene

Also Known as ES2; Dgsi; Dgcr1; Es2el; Dgcr14; D16H22S1269E

Species: Mus musculus

Gene Type: protein coding
Gene ID: 27886

Summary

The human ortholog of 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 human chromosome band 22q11.2. The encoded protein localizes to the nucleus, and the orthologous protein in humans co-purifies with C complex spliceosomes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Ess2 Products (2)

mRNA Protein Name
NM_001081633.1 NP_001075102.1 splicing factor ESS-2 homolog isoform 2
NM_022408.2 NP_071853.2 splicing factor ESS-2 homolog isoform 1

Gene Ontology

  • Biological Process
  • Cellular Component
Biological Process GO Annotation Evidence References Source
involved in nervous system development IEP
IEP: Inferred from expression pattern
9499415 MGI
Cellular Component GO Annotation Evidence References Source
located in nucleus IDA
IDA: Inferred from direct assay
9499415 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

splicing factor ESS-2 homolog

  • DiGeorge syndrome critical region gene 14

  • DiGeorge syndrome critical region protein 14

  • diGeorge syndrome critical region 14 homolog

  • protein DGCR14

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS04546 ESS2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Homo sapiens Ess2 NCBI NCBI:8220