The DGCR2 gene encodes the protein integral membrane protein DGCR2/IDD in humans.[5][6][7]
Deletions of the 22q11.2 have been associated with a wide range of developmental defects (notably DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome and isolated conotruncal cardiac defects) classified under the acronym CATCH 22. The DGCR2 gene encodes a novel putative adhesion receptor protein, which could play a role in neural crest cells migration, a process which has been proposed to be altered in DiGeorge syndrome.[7] DGCR2 is thought to interact with the Reelin complex to regulate corticogenesis.[8]
^ abcGRCh38: Ensembl release 89: ENSG00000070413 – Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000003166 – Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Wadey R, Daw S, Taylor C, Atif U, Kamath S, Halford S, O'Donnell H, Wilson D, Goodship J, Burn J (Oct 1995). "Isolation of a gene encoding an integral membrane protein from the vicinity of a balanced translocation breakpoint associated with DiGeorge syndrome". Hum Mol Genet. 4 (6): 1027–1033. doi:10.1093/hmg/4.6.1027. PMID 7655455.
^Kajiwara K, Nagasawa H, Shimizu-Nishikawa K, Ookura T, Kimura M, Sugaya E (Jun 1996). "Cloning of SEZ-12 encoding seizure-related and membrane-bound adhesion protein". Biochem Biophys Res Commun. 222 (1): 144–148. doi:10.1006/bbrc.1996.0712. PMID 8630060.
^ ab"Entrez Gene: DGCR2 DiGeorge syndrome critical region gene 2".
^Molinard-Chenu, Aude; Dayer, Alexandre (April 2018). "The Candidate Schizophrenia Risk Gene DGCR2 Regulates Early Steps of Corticogenesis". Biological Psychiatry. 83 (8): 692–706. doi:10.1016/j.biopsych.2017.11.015. PMID 29305086.
The DGCR2 gene encodes the protein integral membrane protein DGCR2/IDD in humans. Deletions of the 22q11.2 have been associated with a wide range of developmental...
(such as melanotic neuroectodermal tumor of infancy). First arch syndrome DGCR2—may control neural crest cell migration List of human cell types derived...