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Gene information for DGCR14 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID8220
Official gene symbolDGCR14
Full nameDiGeorge syndrome critical region gene 14
Aliases,DGCR13,DGS-H,DGS-I,DGSH,DGSI,ES2,Es2el,
Gene summaryThis 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. [provided by RefSeq]
LocationChromosome: 22   Locus: 22q11.21|22q11.2
Gene position19132190 - 19117792  Map Viewer
Gene orientationminus
Gene size14399 bp
Gene sequence
OMIM ID601755