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4 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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DGCR6L
DiGeorge syndrome critical region gene 6 like
Chromosome 22 Β· 22q11.21
NCBI Gene: 85359Ensembl: ENSG00000128185.11HGNC: HGNC:18551UniProt: Q9BY27
14PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingnucleusovarian neoplasmFamilial prostate cancerprostate cancer22q11.2 deletion syndrome
✦AI Summary

DGCR6L is a nuclear phosphoprotein encoded by one of two highly homologous copies on chromosome 22 1. It functions as a protein binding partner with tissue-specific expression, showing high levels in heart, liver, and skeletal muscle 1. The gene exists as a functional duplicate of DGCR6, with evolutionary evidence suggesting selective pressure for maintaining both paralogs over at least 12 million years 2. Mechanistically, DGCR6L interacts with p21-activated kinase 4 (PAK4) to regulate cancer cell migration through the LIMK1 signaling pathway 3. The interaction requires specific amino acid residues (L115 of DGCR6L binding to PAK4's C-terminal region) and enhances LIMK1 and cofilin phosphorylation, promoting actin cytoskeleton reorganization 3. Clinically, DGCR6L is relevant to 22q11.2 deletion syndrome (22q11DS), the most common human microdeletion syndrome 4. Dysregulation of DGCR6 and DGCR6L expression correlates with childhood psychopathologies, particularly anxiety disorders, though imprinting does not explain this association 4. The variable expression patterns suggest epigenetic mechanisms contribute to 22q11DS phenotypic variability. Additionally, DGCR6 expression is elevated in metastatic cancer cells 1, suggesting a potential role in cancer progression.

Sources cited
1
DGCR6L encodes a nuclear phosphoprotein (~25 kDa) with differential tissue expression, elevated in tumors and immune cells; both DGCR6 and DGCR6L regulate gene expression
PMID: 15821931
2
DGCR6L binds PAK4 and regulates cancer cell migration via LIMK1 phosphorylation and actin cytoskeleton reorganization
PMID: 19778628
3
DGCR6L is a functional duplicate of DGCR6 on chromosome 22q11; duplication occurred at least 12 million years ago with evidence of selective evolutionary maintenance
PMID: 11157784
4
DGCR6L dysregulation in 22q11.2 deletion syndrome associates with childhood anxiety disorders and psychopathology through epigenetic mechanisms independent of imprinting
PMID: 22832905
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
ovarian neoplasmOpen Targets
0.21Weak
Familial prostate cancerOpen Targets
0.11Weak
prostate cancerOpen Targets
0.11Weak
22q11.2 deletion syndromeOpen Targets
0.04Suggestive
gastric cancerOpen Targets
0.01Suggestive
AnxietyOpen Targets
0.01Suggestive
anxiety disorderOpen Targets
0.00Suggestive
chronic kidney diseaseOpen Targets
0.00Suggestive
schizophreniaOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
adrenocortical carcinoma, hereditaryOpen Targets
0.00Suggestive
cervical cancerOpen Targets
0.00Suggestive
clear cell renal carcinomaOpen Targets
0.00Suggestive
colon adenocarcinomaOpen Targets
0.00Suggestive
colorectal adenocarcinomaOpen Targets
0.00Suggestive
lung cancerOpen Targets
0.00Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.00Suggestive
thyroid cancer, nonmedullary, 1Open Targets
0.00Suggestive
Uterine CarcinosarcomaOpen Targets
0.00Suggestive
Uveal MelanomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
PRODHProtein interaction89%ZNF74Protein interaction84%DGCR2Protein interaction84%HIRAProtein interaction76%PAK4Protein interaction75%DGCR6Co-mentioned in literature75%
Tissue Expression6 tissues
Liver
100%
Brain
36%
Heart
35%
Bone Marrow
31%
Ovary
31%
Lung
24%
Gene Interaction Network
Click a node to explore
DGCR6LPRODHZNF74DGCR2HIRAPAK4DGCR6
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q9BY27
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.12LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.80 [0.57–1.12]
RankingsWhere DGCR6L stands among ~20K protein-coding genes
  • #15,846of 20,598
    Most Researched14
  • #11,531of 17,882
    Most Constrained (LOEUF)1.12
Genes detectedDGCR6L
Sources retrieved4 papers
Response timeβ€”
πŸ“„ Sources
4
1
Biochemical characterisation of the proteins encoded by the DiGeorge critical region 6 (DGCR6) genes.
PMID: 15821931
Hum Genet Β· 2005
1.00
2
DGCR6L, a novel PAK4 interaction protein, regulates PAK4-mediated migration of human gastric cancer cell via LIMK1.
PMID: 19778628
Int J Biochem Cell Biol Β· 2010
0.75
3
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 Β· 2001
0.50
4
Dysregulation of DGCR6 and DGCR6L: psychopathological outcomes in chromosome 22q11.2 deletion syndrome.
PMID: 22832905
Transl Psychiatry Β· 2012
0.25