DGCR14 explained

Protein DGCR14 is a protein that in humans is encoded by the DGCR14 gene.^{[1] [2] [3]}

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.

Further reading

• Rizzu P . Cloning and comparative mapping of a gene from the commonly deleted region of DiGeorge and Velocardiofacial syndromes conserved in C. elegans . Mamm. Genome . 7 . 9 . 639–643 . 1996 . 8703114 . 10.1007/s003359900197 . vanc. Lindsay EA . Taylor C . 3 . o’Donnell . H. . Levy . A. . Scambler . P. . Baldini . A. . 31659048 .
• Lindsay EA . A transcription map in the CATCH22 critical region: identification, mapping, and ordering of four novel transcripts expressed in heart . Genomics . 32 . 1 . 104–112 . 1996 . 8786095 . 10.1006/geno.1996.0082 . vanc. Rizzu P . Antonacci R . 3 . Jurecic . V . Delmas-Mata . J . Lee . CC . Kim . UJ . Scambler . PJ . Baldini . A .
• Botta A, Lindsay EA, Jurecic V, Baldini A . Comparative mapping of the DiGeorge syndrome region in mouse shows inconsistent gene order and differential degree of gene conservation . Mamm. Genome . 8 . 12 . 890–895 . 1998 . 9383280 . 10.1007/s003359900606 . 11874347 .
• Puech A . Comparative mapping of the human 22q11 chromosomal region and the orthologous region in mice reveals complex changes in gene organization . Proc. Natl. Acad. Sci. U.S.A. . 94 . 26 . 14608–14613 . 1998 . 9405660 . 10.1073/pnas.94.26.14608 . 25069 . vanc. Saint-Jore B . Funke B . 3 . Gilbert . DJ . Sirotkin . H . Copeland . NG . Jenkins . NA . Kucherlapati . R . Morrow . B . free .
• Lindsay EA, Harvey EL, Scambler PJ, Baldini A . ES2, a gene deleted in DiGeorge syndrome, encodes a nuclear protein and is expressed during early mouse development, where it shares an expression domain with a Goosecoid-like gene . Hum. Mol. Genet. . 7 . 4 . 629–635 . 1998 . 9499415 . 10.1093/hmg/7.4.629 . free .
• Taricani L, Tejada ML, Young PG . The fission yeast ES2 homologue, Bis1, interacts with the Ish1 stress-responsive nuclear envelope protein . J. Biol. Chem. . 277 . 12 . 10562–10572 . 2002 . 11751918 . 10.1074/jbc.M110686200 . free .
• Tchernev VT . The Chediak-Higashi protein interacts with SNARE complex and signal transduction proteins . Mol. Med. . 8 . 1 . 56–64 . 2002 . 11984006 . 10.1007/bf03402003. 2039936 . vanc. Mansfield TA . Giot L . 3 . Kumar . AM . Nandabalan . K . Li . Y . Mishra . VS . Detter . JC . Rothberg . JM .
• Jurica MS . Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis . RNA . 8 . 4 . 426–439 . 2002 . 11991638 . 10.1017/S1355838202021088 . 1370266 . vanc. Licklider LJ . Gygi SR . 3 . Grigorieff . Nikolaus . Moore . Melissa J. .
• Strausberg RL . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–16903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . vanc. Feingold EA . Grouse LH . 3 . Derge . JG . Klausner . RD . Collins . FS . Wagner . L . Shenmen . CM . Schuler . GD . 2002PNAS...9916899M . free .
• Ota T . Complete sequencing and characterization of 21,243 full-length human cDNAs . Nat. Genet. . 36 . 1 . 40–45 . 2004 . 14702039 . 10.1038/ng1285 . vanc. Suzuki Y . Nishikawa T . 3 . Otsuki . Tetsuji . Sugiyama . Tomoyasu . Irie . Ryotaro . Wakamatsu . Ai . Hayashi . Koji . Sato . Hiroyuki . free .
• Collins JE . A genome annotation-driven approach to cloning the human ORFeome . Genome Biol. . 5 . 10 . R84 . 2005 . 15461802 . 10.1186/gb-2004-5-10-r84 . 545604 . vanc. Wright CL . Edwards CA . 3 . Davis . Matthew P . Grinham . James A . Cole . Charlotte G . Goward . Melanie E . Aguado . Begoña . Mallya . Meera . free .
• Gerhard DS . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) . Genome Res. . 14 . 10B . 2121–2127 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 . vanc. Wagner L . Feingold EA . 3 . Shenmen . CM . Grouse . LH . Schuler . G . Klein . SL . Old . S . Rasooly . R .
• Olsen JV . Global, in vivo, and site-specific phosphorylation dynamics in signaling networks . Cell . 127 . 3 . 635–648 . 2006 . 17081983 . 10.1016/j.cell.2006.09.026 . vanc. Blagoev B . Gnad F . 3 . Macek . Boris . Kumar . Chanchal . Mortensen . Peter . Mann . Matthias . free .

Notes and References

1. Gong W, Emanuel BS, Collins J, Kim DH, Wang Z, Chen F, Zhang G, Roe B, Budarf ML . A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11 . Hum Mol Genet . 5 . 6 . 789–800 . Dec 1996 . 8776594 . 10.1093/hmg/5.6.789 . 10.1.1.539.9441 .
2. Gong W, Emanuel BS, Galili N, Kim DH, Roe B, Driscoll DA, Budarf ML . Structural and mutational analysis of a conserved gene (DGSI) from the minimal DiGeorge syndrome critical region . Hum Mol Genet . 6 . 2 . 267–276 . Aug 1997 . 9063747 . 10.1093/hmg/6.2.267 .
3. Web site: Entrez Gene: DGCR14 DiGeorge syndrome critical region gene 14.