DGCR14

Protein DGCR14 is a protein that in humans is encoded by the DGCR14 gene.^[4][5][6]

ESS2
Identifiers
Aliases	ESS2, DGCR13, DGS-H, DGS-I, DGSH, DGSI, ES2, Es2el, DGCR14, DiGeorge syndrome critical region gene 14, bis1, ESS-2, ess-2 splicing factor homolog
External IDs	OMIM: 601755; MGI: 107854; HomoloGene: 11184; GeneCards: ESS2; OMA:ESS2 - orthologs
Gene location (Mouse) Chr. Chromosome 16 (mouse)[1] Band 16 A3|16 11.09 cM Start 17,718,573 bp[1] End 17,729,212 bp[1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sperm blood skin of abdomen popliteal artery sural nerve oocyte prefrontal cortex gastric mucosa left uterine tube thoracic aorta Top expressed in zygote ventricular zone granulocyte tail of embryo genital tubercle neural tube superior frontal gyrus neural layer of retina spermatid secondary oocyte More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding molecular function Cellular component catalytic step 2 spliceosome spliceosomal complex nucleus Biological process mRNA splicing, via spliceosome mRNA processing RNA splicing nervous system development Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 8220 27886 Ensembl n/a ENSMUSG00000003527 UniProt Q96DF8 O70279 RefSeq (mRNA) NM_022719 NM_001081633 NM_022408 RefSeq (protein) NP_073210 NP_001075102 NP_071853 Location (UCSC) n/a Chr 16: 17.72 – 17.73 Mb PubMed search [2] [3]
Wikidata
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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.^[6]