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
- Position
- 19,130,279–19,144,684 (−)
- Aliases
- DGCR13, DGCR14, DGS-H, DGS-I, DGSH, DGSI, ES2, ESS-2, Es2el, bis1
- Ensembl
- ENSG00000100056
- RefSeq RNA
- NM_022719.3, NR_134304.2, XM_005261282.5, XM_006724329.4, XM_011530403.2
- RefSeq protein
- NP_073210.1, XP_005261339.1, XP_006724392.1, XP_011528705.1, XP_011528706.1
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].
Gene Ontology
Biological process
Molecular function
Cellular component
via MyGene.info
Wikidata facts
- Instance of
- gene
Show 5 more facts
- HomoloGene ID
- 11184
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/8220
- cytogenetic location
- 22q11.21|22q11.2
- expressed in
- thoracic aorta
Sources (3)
via Wikidata · CC0
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Encyclopedic overview
2 sectionsContents
- References
- Further reading
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.
Excerpted from Wikipedia’s “ESS2” article, available under the CC BY-SA 4.0 licence.