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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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DGCR6
DiGeorge syndrome critical region gene 6
Chromosome 22 · 22q11.21|22q11
NCBI Gene: 8214Ensembl: ENSG00000183628.15HGNC: HGNC:2846UniProt: Q14129
22PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingcell adhesionanimal organ morphogenesisextracellular matrixhyperprolinemia type 1genetic disorder22q11.2 deletion syndromeanxiety disorder
✦AI Summary

DGCR6 is a developmental regulatory gene located in the DiGeorge critical region of chromosome 22, deleted in 22q11.2 deletion syndrome (22q11DS) 1. The gene exists in two functional copies (DGCR6 and DGCR6L) on chromosome 22, with the duplication dating back at least 12 million years, suggesting evolutionary selective pressure for maintaining both paralogs 2. DGCR6 encodes a ~25 kDa nuclear phosphoprotein with predominantly nuclear localization 3. Functionally, DGCR6 shows high expression in embryonic brain, spinal cord, and pharyngeal arches 1, with neural crest cell-restricted expression in mature tissues 4. The gene acts as a repressor of TBX-1 and UFD1L expression in developing neural crest derivatives, and DGCR6 attenuation in neural crest cells produces cardiovascular anomalies characteristic of DiGeorge syndrome 4. Clinically, DGCR6 expression dysregulation correlates with anxiety disorders in 22q11DS children, independent of genomic imprinting but driven by other epigenetic mechanisms 5. Additionally, DGCR6 deletion associates with autism spectrum disorders and schizophrenia, implicating this gene in broader neurodevelopmental pathways 6.

Sources cited
1
DGCR6 is deleted in DiGeorge syndrome and shows high embryonic expression in brain, spinal cord, and pharyngeal arches
PMID: 9605865
2
DGCR6 exists as two functional copies (DGCR6 and DGCR6L) on chromosome 22, with duplication dating back at least 12 million years
PMID: 11157784
3
DGCR6 encodes a ~25 kDa nuclear phosphoprotein with predominantly nuclear localization
PMID: 15821931
4
DGCR6 shows neural crest-restricted expression and acts as a repressor of TBX-1 and UFD1L; DGCR6 attenuation produces cardiovascular anomalies
PMID: 15333760
5
DGCR6 expression dysregulation correlates with anxiety disorders in 22q11DS children through epigenetic mechanisms
PMID: 22832905
6
DGCR6 deletion at 22q11 associates with autism spectrum disorders and shares pathways with schizophrenia and mental retardation
PMID: 19736351
Disease Associationsⓘ20
hyperprolinemia type 1Open Targets
0.44Moderate
genetic disorderOpen Targets
0.32Weak
22q11.2 deletion syndromeOpen Targets
0.08Suggestive
anxiety disorderOpen Targets
0.02Suggestive
schizophreniaOpen Targets
0.02Suggestive
Conotruncal defectOpen Targets
0.01Suggestive
diffuse large B-cell lymphomaOpen Targets
0.01Suggestive
AnxietyOpen Targets
0.01Suggestive
gliomaOpen Targets
0.01Suggestive
breast cancerOpen Targets
0.00Suggestive
attention deficit hyperactivity disorderOpen Targets
0.00Suggestive
malignant gliomaOpen Targets
0.00Suggestive
otofaciocervical syndromeOpen Targets
0.00Suggestive
chronic kidney diseaseOpen Targets
0.00Suggestive
Angelman syndromeOpen Targets
0.00Suggestive
psychosisOpen Targets
0.00Suggestive
Williams syndromeOpen Targets
0.00Suggestive
autism spectrum disorderOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
Tetralogy of FallotOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PRODHProtein interaction85%HIRAProtein interaction85%ZNF74Protein interaction85%DGCR6LCo-mentioned in literature75%TBX1Protein interaction71%DGCR2Protein interaction65%
Tissue Expression6 tissues
Liver
100%
Brain
70%
Lung
47%
Ovary
19%
Bone Marrow
2%
Heart
0%
Gene Interaction Network
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DGCR6PRODHHIRAZNF74DGCR6LTBX1DGCR2
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q14129
View on AlphaFold ↗
RankingsWhere DGCR6 stands among ~20K protein-coding genes
  • #13,644of 20,598
    Most Researched22
Genes detectedDGCR6
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
A mouse gene (Dgcr6) related to the Drosophila gonadal gene is expressed in early embryogenesis and is the homolog of a human gene deleted in DiGeorge syndrome.
PMID: 9605865
Cytogenet Cell Genet · 1997
1.00
2
Two functional copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locus.
PMID: 11157784
Genome Res · 2001
0.90
3
A chicken model for DGCR6 as a modifier gene in the DiGeorge critical region.
PMID: 15333760
Pediatr Res · 2004
0.80
4
Dysregulation of DGCR6 and DGCR6L: psychopathological outcomes in chromosome 22q11.2 deletion syndrome.
PMID: 22832905
Transl Psychiatry · 2012
0.70
5
Biochemical characterisation of the proteins encoded by the DiGeorge critical region 6 (DGCR6) genes.
PMID: 15821931
Hum Genet · 2005
0.60