DGCR2

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

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; OMA:DGCR2 - orthologs

Chr.Chromosome 22 (human)^[1]

End19,122,454 bp^[1]

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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)[1] Band 22q11.21 Start 19,036,282 bp[1] End 19,122,454 bp[1]
Gene location (Mouse) Chr. Chromosome 16 (mouse)[2] Band 16 A3|16 11.05 cM Start 17,657,346 bp[2] End 17,716,426 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse 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 Mb Chr 16: 17.66 – 17.72 Mb PubMed search [3] [4]
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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]