Alternative titles; symbols
HGNC Approved Gene Symbol: DGCR2
Cytogenetic location: 22q11.21 Genomic coordinates (GRCh38): 22:19,036,286-19,122,412 (from NCBI)
Demczuk et al. (1995) constructed a cosmid contig spanning the balanced translocation t(2;22)(q14.1;q11.1) found in a daughter and her mother with DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS) phenotypes (see 188400) by Augusseau et al. (1986). They identified a gene, which they symbolized DGCR2, whose 3-prime end mapped 10 kb telomeric to the balanced translocation. The DGCR2 gene encodes a deduced 550-amino acid protein that includes a 24-residue signal peptide and a mature protein of 526 residues. The protein contains a putative transmembrane domain and its N-terminal region shows similarities to the cys-rich repeat region of the low density lipoprotein receptor (606945) and to C-type lectin domains, indicating that it is a potential adhesion receptor. Northern blot analysis of fetal and adult tissues showed ubiquitous expression of a 4.4-kb transcript.
Wadey et al. (1995) also isolated a P1 clone that spanned the breakpoint on chromosome 22q11 identified by Augusseau et al. (1986), which is known as the ADU breakpoint, and used it to isolate a cDNA encoding DGCR2, which they called IDD (integral membrane protein, deleted in DGS).
Demczuk et al. (1995) and Wadey et al. (1995) identified the DGCR2 gene within the 22q11 critical region for DGS/VCFS.
Wadey et al. (1995) performed mutation analysis on the DGCR2 gene in 5 cases of DiGeorge syndrome with no previously identified chromosome 22 deletion. They found no mutations, but did identify a possible protein polymorphism. No deletions or rearrangements were detected in these patients following analysis with markers closely flanking the ADU breakpoint, data that emphasized the large (over 1 Mb) interstitial deletions that are the rule in DGS. Wadey et al. (1995) speculated that although the mutation analysis was negative, the proximity of the DGCR2 gene to the ADU breakpoint and its position within the shortest region of deletion overlap indicated that the gene may have a role, along with other genes, in the CATCH22 haploinsufficiency syndromes (see 188400).
Augusseau, S., Jouk, S., Jalbert, P., Prieur, M. DiGeorge syndrome and 22q11 rearrangements. (Letter) Hum. Genet. 74: 206 only, 1986. [PubMed: 3770751] [Full Text: https://doi.org/10.1007/BF00282098]
Demczuk, S., Aledo, R., Zucman, J., Delattre, O., Desmaze, C., Dauphinot, L., Jalbert, P., Rouleau, G. A., Thomas, G., Aurias, A. Cloning of a balanced translocation breakpoint in the DiGeorge syndrome critical region and isolation of a novel potential adhesion receptor gene in its vicinity. Hum. Molec. Genet. 4: 551-558, 1995. [PubMed: 7633403] [Full Text: https://doi.org/10.1093/hmg/4.4.551]
Wadey, R., Daw, S., Taylor, C., Atif, U., Kamath, S., Halford, S., O'Donnell, H., Wilson, D., Goodship, J., Burn, J., Scambler, P. Isolation of a gene encoding an integral membrane protein from the vicinity of a balanced translocation breakpoint associated with DiGeorge syndrome. Hum. Molec. Genet. 4: 1027-1033, 1995. [PubMed: 7655455] [Full Text: https://doi.org/10.1093/hmg/4.6.1027]