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; HomoloGene: 31292; GeneCards: DGCR2; OMA:DGCR2 - orthologs
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
	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.