DGCR14

From Wikipedia, the free encyclopedia

DiGeorge syndrome critical region gene 14

Identifiers

DGCR14; DGCR13; DGS-H; DGS-I; DGSI; ES2; Es2el

External IDs

OMIM: 601755 MGI: 107854 HomoloGene: 11184

Gene ontology
Molecular Function:	• molecular_function
Cellular Component:	• nucleus • spliceosome
Biological Process:	• mRNA processing • nervous system development • RNA splicing

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_001024733 (mRNA)
NP_001019904 (protein)

NM_001081633 (mRNA)
NP_001075102 (protein)

Location

Chr 22: 17.5 - 17.51 Mb

Chr 16: 17.82 - 17.82 Mb

Pubmed search

[1]

[2]

DiGeorge syndrome critical region gene 14, also known as DGCR14, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: DGCR14 DiGeorge syndrome critical region gene 14.

[edit] Further reading

Rizzu P, Lindsay EA, Taylor C, et al. (1996). "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): 639-43. PMID 8703114.
Gong W, Emanuel BS, Collins J, et al. (1996). "A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11.". Hum. Mol. Genet. 5 (6): 789-800. PMID 8776594.
Lindsay EA, Rizzu P, Antonacci R, et al. (1996). "A transcription map in the CATCH22 critical region: identification, mapping, and ordering of four novel transcripts expressed in heart.". Genomics 32 (1): 104-12. doi:10.1006/geno.1996.0082. PMID 8786095.
Gong W, Emanuel BS, Galili N, et al. (1997). "Structural and mutational analysis of a conserved gene (DGSI) from the minimal DiGeorge syndrome critical region.". Hum. Mol. Genet. 6 (2): 267-76. PMID 9063747.
Botta A, Lindsay EA, Jurecic V, Baldini A (1998). "Comparative mapping of the DiGeorge syndrome region in mouse shows inconsistent gene order and differential degree of gene conservation.". Mamm. Genome 8 (12): 890-5. PMID 9383280.
Puech A, Saint-Jore B, Funke B, et al. (1998). "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): 14608-13. PMID 9405660.
Lindsay EA, Harvey EL, Scambler PJ, Baldini A (1998). "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): 629-35. PMID 9499415.
Taricani L, Tejada ML, Young PG (2002). "The fission yeast ES2 homologue, Bis1, interacts with the Ish1 stress-responsive nuclear envelope protein.". J. Biol. Chem. 277 (12): 10562-72. doi:10.1074/jbc.M110686200. PMID 11751918.
Tchernev VT, Mansfield TA, Giot L, et al. (2002). "The Chediak-Higashi protein interacts with SNARE complex and signal transduction proteins.". Mol. Med. 8 (1): 56-64. PMID 11984006.
Jurica MS, Licklider LJ, Gygi SR, et al. (2002). "Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis.". RNA 8 (4): 426-39. PMID 11991638.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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): 16899-903. doi:10.1073/pnas.242603899. PMID 12477932.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40-5. doi:10.1038/ng1285. PMID 14702039.
Collins JE, Wright CL, Edwards CA, et al. (2005). "A genome annotation-driven approach to cloning the human ORFeome.". Genome Biol. 5 (10): R84. doi:10.1186/gb-2004-5-10-r84. PMID 15461802.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121-7. doi:10.1101/gr.2596504. PMID 15489334.
Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.". Cell 127 (3): 635-48. doi:10.1016/j.cell.2006.09.026. PMID 17081983.