ESS2
Sign in to saveAlso known as DGCR13, DGS-H, DGS-I, DGSH, DGSI, ES2, Es2el, DGCR14
Protein DGCR14 is a protein that in humans is encoded by the DGCR14 gene.
Gene data
ESS2- Name
- ess-2 spliceosome associated protein
- Type
- protein-coding
- Aliases
- DGCR13, DGCR14, DGS-H, DGS-I, DGSH, DGSI, ES2, ESS-2, Es2el, bis1
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].
via MyGene.info
Wikidata facts
Show 3 more facts
- HomoloGene ID
- 11184
- exact match
- identifiers.org/ncbigene/8220
- cytogenetic location
- 22q11.21|22q11.2
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Protein DGCR14 is a protein that in humans is encoded by the DGCR14 gene.
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.