DGCR6

DGCR6
Identifiers
Aliases	DGCR6 , DiGeorge syndrome critical region gene 6
External IDs	OMIM: 601279 HomoloGene: 136000 GeneCards: DGCR6
Gene location (Human) Chr. Chromosome 22 (human) [1] Band 22q11.21|22q11 Start 18,906,028 bp [1] End 18,914,238 bp [1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in skeletal muscle tissue gastrocnemius muscle hypothalamus amygdala hippocampus proper nucleus accumbens substantia nigra dorsolateral prefrontal cortex putamen caudate nucleus n/a More reference expression data BioGPS More reference expression data
Gene ontology Molecular function molecular function Cellular component nucleus extracellular matrix Biological process animal organ morphogenesis cell adhesion Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 8214 n/a Ensembl ENSG00000183628 n/a UniProt Q14129 Q6FGH4 n/a RefSeq (mRNA) NM_005675 n/a RefSeq (protein) NP_001355171 n/a Location (UCSC) Chr 22: 18.91 – 18.91 Mb n/a PubMed search [2] n/a
Wikidata
View/Edit Human

Protein DGCR6 is a protein that in humans is encoded by the DGCR6 gene. ^{[3] [4]}

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. ^[4]

References

1. GRCh38: Ensembl release 89: ENSG00000183628 - Ensembl, May 2017
2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
3. 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.
4. "Entrez Gene: DGCR6 DiGeorge syndrome critical region gene 6".

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.gr-1431r. PMC   311013 . PMID   11157784.
• 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. Bibcode:2002PNAS...99.3717L. doi: 10.1073/pnas.042700699 . PMC   122590 . PMID   11891283.
• 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. Bibcode:2002PNAS...99.4755C. doi: 10.1073/pnas.092158299 . PMC   122660 . PMID   11959925.
• 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. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• 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.
• 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.
• 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. S2CID   24817896.