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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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DGCR2
DiGeorge syndrome critical region gene 2
Chromosome 22 · 22q11.21
NCBI Gene: 9993Ensembl: ENSG00000070413.21HGNC: HGNC:2845UniProt: B7Z3T5
40PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Receptor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingcognitionmembraneanimal organ morphogenesisAbruptio Placentaeplacenta praeviadiabetes mellitusneuropathy
✦AI Summary

DGCR2 is a putative adhesion receptor located in the 22q11.2 locus that functions as a novel component of the Reelin signaling complex, regulating early corticogenesis and cortical circuit assembly 1. The protein mediates cell-cell and cell-matrix interactions critical for neuronal migration and laminar positioning during brain development 1. DGCR2 is also expressed as a beta-cell-specific marker in the pancreas, making it a viable target for targeted drug delivery and molecular imaging of insulin-secreting cells 2. Mechanistically, DGCR2 regulates the phosphorylation of Reelin-dependent substrates and transcriptional targets essential for proper cortical layer formation 1. Loss of DGCR2 expression impairs projection neuron radial migration and causes persistent laminar positioning alterations 1. DGCR2 is implicated in schizophrenia pathogenesis through 22q11.2 deletion syndrome, where deletions encompassing this locus confer ~30% schizophrenia risk 3. A rare missense mutation in DGCR2 identified in idiopathic schizophrenia patients reduces protein expression and impairs corticogenesis, suggesting haploinsufficiency as a disease mechanism 1. DGCR2 genetic variants also associate with cortical thickness variations independent of schizophrenia diagnosis 4, and reduced DGCR2 expression correlates with schizophrenia status 5. Additionally, DGCR2 expression levels serve as a prognostic biomarker in muscle-invasive bladder cancer, with reduced expression associated with improved survival 6.

Sources cited
1
DGCR2 is a member of the Reelin complex regulating corticogenesis, neuronal migration, and laminar positioning; schizophrenia-risk mutations reduce protein expression
PMID: 29305086
2
DGCR2 is a beta-cell-specific protein in pancreatic and stem cell-derived beta cells, suitable for targeted drug and imaging delivery
PMID: 39747317
3
DGCR2 is associated with schizophrenia in the context of 22q11.2 deletion syndrome, with ~30% of deletion carriers developing schizophrenia
PMID: 33098288
4
DGCR2 variants influence cortical thickness independent of schizophrenia diagnosis; DGCR2 is downregulated in schizophrenia patients
PMID: 30901624
5
DGCR2 genetic variants associate with schizophrenia; risk alleles reduce DGCR2 expression; expression is elevated in dorsolateral prefrontal cortex of schizophrenic patients
PMID: 16783572
6
Reduced DGCR2 expression associates with longer cancer-specific survival in muscle-invasive bladder cancer and serves as a prognostic marker
PMID: 24616583
Disease Associationsⓘ20
Abruptio PlacentaeOpen Targets
0.10Weak
placenta praeviaOpen Targets
0.09Suggestive
diabetes mellitusOpen Targets
0.04Suggestive
neuropathyOpen Targets
0.04Suggestive
ghosal hematodiaphyseal dysplasiaOpen Targets
0.04Suggestive
cancerOpen Targets
0.04Suggestive
alcohol drinkingOpen Targets
0.04Suggestive
Osteopathia striata - pigmentary dermopathy - white forelockOpen Targets
0.04Suggestive
osteopathia striata-pigmentary dermopathy-white forelock syndromeOpen Targets
0.04Suggestive
hip dysplasia, Beukes typeOpen Targets
0.04Suggestive
schizophreniaOpen Targets
0.03Suggestive
coxopodopatellar syndromeOpen Targets
0.03Suggestive
Weismann-Netter syndromeOpen Targets
0.03Suggestive
type 1 diabetes mellitusOpen Targets
0.02Suggestive
22q11.2 deletion syndromeOpen Targets
0.02Suggestive
rheumatoid arthritisOpen Targets
0.02Suggestive
fetal erythroblastosisOpen Targets
0.01Suggestive
Inflammatory abnormality of the skinOpen Targets
0.01Suggestive
psoriasisOpen Targets
0.01Suggestive
neuritisOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CLTCL1Protein interaction85%PRODHProtein interaction84%HIRAProtein interaction84%ZNF74Protein interaction84%DGCR6LProtein interaction84%SEAProtein interaction81%
Tissue Expression6 tissues
Ovary
100%
Heart
87%
Lung
82%
Brain
76%
Liver
75%
Bone Marrow
30%
Gene Interaction Network
Click a node to explore
DGCR2CLTCL1PRODHHIRAZNF74DGCR6LSEA
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt P98153
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.69LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.49 [0.35–0.69]
RankingsWhere DGCR2 stands among ~20K protein-coding genes
  • #10,156of 20,598
    Most Researched40
  • #5,154of 17,882
    Most Constrained (LOEUF)0.69
Genes detectedDGCR2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
DGCR2 targeting affibody molecules for delivery of drugs and imaging reagents to human beta cells.
PMID: 39747317
Sci Rep · 2025
1.00
2
22q11.2 deletion syndrome and schizophrenia.
PMID: 33098288
Acta Biochim Biophys Sin (Shanghai) · 2020
0.90
3
The Candidate Schizophrenia Risk Gene DGCR2 Regulates Early Steps of Corticogenesis.
PMID: 29305086
Biol Psychiatry · 2018
0.80
4
DGCR2 influences cortical thickness through a mechanism independent of schizophrenia pathogenesis.
PMID: 30901624
Psychiatry Res · 2019
0.70
5
A complete genetic association scan of the 22q11 deletion region and functional evidence reveal an association between DGCR2 and schizophrenia.
PMID: 16783572
Hum Genet · 2006
0.60