DGCR2
Identifiers
AliasesDGCR2, DGS-C, IDD, LAN, SEZ-12, 9930034O06Rik, Dgsc, Sez12, mKIAA0163, DiGeorge syndrome critical region gene 2
External IDsOMIM: 600594 MGI: 892866 HomoloGene: 31292 GeneCards: DGCR2
Orthologs
SpeciesHumanMouse
Entrez

9993

13356

Ensembl

ENSG00000070413

ENSMUSG00000003166

UniProt

P98153

P98154

RefSeq (mRNA)

NM_001173533
NM_001173534
NM_001184781
NM_005137

NM_001109750
NM_010048

RefSeq (protein)

NP_001167004
NP_001167005
NP_001171710
NP_005128

NP_001103220
NP_034178

Location (UCSC)Chr 22: 19.04 – 19.12 MbChr 16: 17.66 – 17.72 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

The DGCR2 gene encodes the protein integral membrane protein DGCR2/IDD in humans.[5][6][7]

Deletions of the 22q11.2 have been associated with a wide range of developmental defects (notably DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome and isolated conotruncal cardiac defects) classified under the acronym CATCH 22. The DGCR2 gene encodes a novel putative adhesion receptor protein, which could play a role in neural crest cells migration, a process which has been proposed to be altered in DiGeorge syndrome.[7] DGCR2 is thought to interact with the Reelin complex to regulate corticogenesis.[8]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000070413 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000003166 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Wadey R, Daw S, Taylor C, Atif U, Kamath S, Halford S, O'Donnell H, Wilson D, Goodship J, Burn J (Oct 1995). "Isolation of a gene encoding an integral membrane protein from the vicinity of a balanced translocation breakpoint associated with DiGeorge syndrome". Hum Mol Genet. 4 (6): 1027–1033. doi:10.1093/hmg/4.6.1027. PMID 7655455.
  6. Kajiwara K, Nagasawa H, Shimizu-Nishikawa K, Ookura T, Kimura M, Sugaya E (Jun 1996). "Cloning of SEZ-12 encoding seizure-related and membrane-bound adhesion protein". Biochem Biophys Res Commun. 222 (1): 144–148. doi:10.1006/bbrc.1996.0712. PMID 8630060.
  7. 1 2 "Entrez Gene: DGCR2 DiGeorge syndrome critical region gene 2".
  8. Molinard-Chenu, Aude; Dayer, Alexandre (April 2018). "The Candidate Schizophrenia Risk Gene DGCR2 Regulates Early Steps of Corticogenesis". Biological Psychiatry. 83 (8): 692–706. doi:10.1016/j.biopsych.2017.11.015. PMID 29305086.

Further reading


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.