DGCR2

DGCR2
Identifiers
Aliases	DGCR2, DGS-C, IDD, LAN, SEZ-12, 9930034O06Rik, Dgsc, Sez12, mKIAA0163, DiGeorge syndrome critical region gene 2
External IDs	OMIM: 600594; MGI: 892866; GeneCards: DGCR2
Gene location (Human)
Chr.	Chromosome 22 (human)
End	19,122,454 bp
Gene location (Mouse)
Chr.	Chromosome 16 (mouse)
End	17,716,426 bp
RNA expression pattern
	Top expressed in
	human penis; ; nipple; ; external globus pallidus; ; lateral nuclear group of thalamus; ; ventral tegmental area; ; parotid gland; ; superior vestibular nucleus; ; hair follicle; ; pons; ; pars reticulata;
	Top expressed in
	spermatid; ; corneal stroma; ; ventricular zone; ; lacrimal gland; ; dentate gyrus of hippocampal formation granule cell; ; molar; ; cerebellar cortex; ; lip; ; primary visual cortex; ; dorsomedial hypothalamic nucleus;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	carbohydrate binding;
Cellular component	integral component of membrane; membrane;
Biological process	animal organ morphogenesis; cell adhesion; cognition;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	9993
	13356
	ENSG00000070413
	ENSMUSG00000003166
	P98153
	P98154
	NM_001173533; NM_001173534; NM_001184781; NM_005137
	NM_001109750; NM_010048
	NP_001167004; NP_001167005; NP_001171710; NP_005128
	NP_001103220; NP_034178
	Wikidata
View/Edit Human	View/Edit Mouse

The DGCR2 gene encodes the protein integral membrane protein DGCR2/IDD in humans.

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. DGCR2 is thought to interact with the Reelin complex to regulate corticogenesis.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000070413 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000003166 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ Wadey R, Daw S, Taylor C, Atif U, Kamath S, Halford S, et al. (October 1995). "Isolation of a gene encoding an integral membrane protein from the vicinity of a balanced translocation breakpoint associated with DiGeorge syndrome". Human Molecular Genetics. 4 (6): 1027–1033. doi:10.1093/hmg/4.6.1027. PMID 7655455.
↑ Kajiwara K, Nagasawa H, Shimizu-Nishikawa K, Ookura T, Kimura M, Sugaya E (June 1996). "Cloning of SEZ-12 encoding seizure-related and membrane-bound adhesion protein". Biochemical and Biophysical Research Communications. 222 (1): 144–148. doi:10.1006/bbrc.1996.0712. PMID 8630060.
1 2 "Entrez Gene: DGCR2 DiGeorge syndrome critical region gene 2".
↑ Molinard-Chenu A, Dayer A (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.

External links

DGCR2 human gene location in the UCSC Genome Browser.
DGCR2 human gene details in the UCSC Genome Browser.

This article on a gene on human chromosome 22 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000070413 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[Wadey_1995-5] Wadey R, Daw S, Taylor C, Atif U, Kamath S, Halford S, et al. (October 1995). "Isolation of a gene encoding an integral membrane protein from the vicinity of a balanced translocation breakpoint associated with DiGeorge syndrome". Human Molecular Genetics. 4 (6): 1027–1033. doi:10.1093/hmg/4.6.1027. PMID 7655455.

[Kajiwara_1996-6] Kajiwara K, Nagasawa H, Shimizu-Nishikawa K, Ookura T, Kimura M, Sugaya E (June 1996). "Cloning of SEZ-12 encoding seizure-related and membrane-bound adhesion protein". Biochemical and Biophysical Research Communications. 222 (1): 144–148. doi:10.1006/bbrc.1996.0712. PMID 8630060.

[entrez-7] 1 2 "Entrez Gene: DGCR2 DiGeorge syndrome critical region gene 2".

[8] Molinard-Chenu A, Dayer A (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.

DGCR2

References

Further reading

External links