DGCR6

DiGeorge syndrome critical region gene 6
Identifiers
Symbols	DGCR6;
External IDs	OMIM: 601279 HomoloGene: 4152 GeneCards: DGCR6 Gene
Gene Ontology Molecular function • molecular_function Cellular component • proteinaceous extracellular matrix • nucleus Biological process • cell adhesion • organ morphogenesis Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	8214	13353
Ensembl	ENSG00000183628	ENSMUSG00000003531
UniProt	Q14129	n/a
RefSeq (mRNA)	NM_005675	NM_010047.3
RefSeq (protein)	NP_005666	NP_034177.1
Location (UCSC)	Chr 22: 18.89 – 18.9 Mb	Chr 16: 18.05 – 18.07 Mb
PubMed search	[1]	[2]

Protein DGCR6 is a protein that in humans is encoded by the DGCR6 gene.^[1][2]

DiGeorge syndrome, and more widely, the CATCH 22 syndrome, are associated with microdeletions in chromosomal region 22q11.2. This gene product shares homology with the Drosophila melanogaster gonadal protein, which participates in gonadal and germ cell development, and with the human laminin gamma-1 chain, which upon polymerization with alpha- and beta-chains forms the laminin molecule. Laminin binds to cells through interaction with a receptor and has functions in cell attachment, migration, and tissue organization during development. This gene could be a candidate for involvement in the DiGeorge syndrome pathology by playing a role in neural crest cell migration into the third and fourth pharyngeal pouches, the structures from which derive the organs affected in DiGeorge syndrome.^[2]

References

1. ^ Demczuk S, Thomas G, Aurias A (Jun 1997). "Isolation of a novel gene from the DiGeorge syndrome critical region with homology to Drosophila gdl and to human LAMC1 genes". Hum Mol Genet 5 (5): 633–8. doi:10.1093/hmg/5.5.633. PMID 8733130. 
2. ^ ^{a b} "Entrez Gene: DGCR6 DiGeorge syndrome critical region gene 6". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8214. 

Further reading

• Edelmann L, Stankiewicz P, Spiteri E, et al. (2001). "Two functional copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locus.". Genome Res. 11 (2): 208–17. doi:10.1101/gr.143101. PMC 311013. PMID 11157784. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=311013. 
• Liu H, Heath SC, Sobin C, et al. (2002). "Genetic variation at the 22q11 PRODH2/DGCR6 locus presents an unusual pattern and increases susceptibility to schizophrenia.". Proc. Natl. Acad. Sci. U.S.A. 99 (6): 3717–22. doi:10.1073/pnas.042700699. PMC 122590. PMID 11891283. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=122590. 
• Chakravarti A (2002). "A compelling genetic hypothesis for a complex disease: PRODH2/DGCR6 variation leads to schizophrenia susceptibility.". Proc. Natl. Acad. Sci. U.S.A. 99 (8): 4755–6. doi:10.1073/pnas.092158299. PMC 122660. PMID 11959925. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=122660. 
• Wistow G, Bernstein SL, Wyatt MK, et al. (2002). "Expressed sequence tag analysis of human retina for the NEIBank Project: retbindin, an abundant, novel retinal cDNA and alternative splicing of other retina-preferred gene transcripts.". Mol. Vis. 8: 196–204. PMID 12107411. 
• 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. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241. 
• 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. PMC 545604. PMID 15461802. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=545604. 
• 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. PMC 528928. PMID 15489334. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928. 
• Pfuhl T, Dürr M, Spurk A, et al. (2005). "Biochemical characterisation of the proteins encoded by the DiGeorge critical region 6 (DGCR6) genes.". Hum. Genet. 117 (1): 70–80. doi:10.1007/s00439-005-1267-2. PMID 15821931.