DGCR2: DiGeorge Syndrome Critical Region Gene 2
A key gene in 22q11.2 deletion syndrome and neurodevelopmental disorders
Gene Information Card
| Symbol | DGCR2 |
|---|---|
| Full Name | DiGeorge Syndrome Critical Region Gene 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 22q11.21 |
| NCBI Gene ID | 9993 ncbi.nlm.nih.gov/gene/9993 |
| Ensembl ID | ENSG00000100226 |
| UniProt ID | P98153 |
| OMIM ID | 600594 |
| HGNC ID | 2845 |
| Aliases | IDD, LAN, DGS-C, SEZ-12 |
Description
DGCR2 encodes a transmembrane protein that functions as a receptor for the adenovirus and may play a role in neural crest cell migration and cardiac outflow tract development. It is located within the DiGeorge syndrome critical region on chromosome 22q11.21, and haploinsufficiency of this gene is associated with 22q11.2 deletion syndrome (DiGeorge syndrome), intellectual disability, and seizures.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| 22q11.2 deletion syndrome (DiGeorge syndrome) | Haploinsufficiency due to deletion of one copy of DGCR2 | OMIM #188400; ClinVar pathogenic deletions |
| Intellectual developmental disorder (IDD) | Biallelic loss-of-function mutations impair neurodevelopment | PMID: 31630790; ClinVar |
| Seizures | DGCR2 variants linked to epilepsy phenotypes | ClinVar; PMID: 31630790 |
| Congenital heart disease | DGCR2 deletion contributes to cardiac outflow tract defects | OMIM; PMID: 10521298 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 15.2 | Medium |
| Heart | 12.8 | Medium |
| Lung | 9.5 | Low |
| Kidney | 8.1 | Low |
| Liver | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 18.5 | Neuronal model |
| HEK293 (embryonic kidney) | 12.0 | Common expression system |
| HepG2 (hepatocellular carcinoma) | 6.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Loss of start codon; likely loss of function |
| c.112C>T (p.Arg38*) | nonsense | <0.01% | Premature stop; loss of function |
| c.457G>A (p.Gly153Arg) | missense | <0.01% | Impaired protein function; associated with IDD |
| 22q11.2 deletion (1.5-3 Mb) | copy number loss | 1 in 4000 | Haploinsufficiency; DiGeorge syndrome |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss variants cause loss of DGCR2 function, leading to neurodevelopmental phenotypes.
Gain of Function (GOF)
No gain-of-function mutations reported for DGCR2.
Dominant Negative (DN)
No dominant-negative mutations reported for DGCR2.
View complete mutation data：
Gene Ontology (GO)
| • receptor activity (GO:0004872) | • plasma membrane (GO:0005886) |
| • cell adhesion (GO:0007155) | • axon guidance (GO:0007411) |
| • cell differentiation (GO:0030154) | • neuronal cell body (GO:0043025) |
Pathways
• REACT:147422 (Axon guidance)
• REACT:21369 (Cell surface interactions at the vascular wall)
• REACT:111045 (Developmental biology)
Protein Summary
DGCR2 encodes a 538-amino-acid type I transmembrane protein with an N-terminal signal peptide, a large extracellular domain containing immunoglobulin-like and fibronectin type III domains, a single transmembrane helix, and a short cytoplasmic tail. The protein is involved in cell adhesion and receptor signaling, particularly in neural and cardiac development. It is localized to the plasma membrane and is expressed in multiple tissues, with highest levels in brain and heart.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DGCR2 Knockout HEK293 Cell Line | EDJ-KQ6855 | Human | 9993 | Details Get a Quote |
| DGCR2 Knockout A-549 Cell Line | EDJ-KQ31427 | Human | 9993 | Details Get a Quote |
| DGCR2 Knockout HCT 116 Cell Line | EDJ-KQ31428 | Human | 9993 | Details Get a Quote |
| DGCR2 Knockout HeLa Cell Line | EDJ-KQ31429 | Human | 9993 | Details Get a Quote |
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