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DGCR2 - DiGeorge syndrome critical region gene 2 Gene

Also Known as IDD; LAN; DGS-C; SEZ-12

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9993

About DGCR2

Cytogenetic location: 22q11.21 Genomic coordinates (GRCh38): 22:19,036,286-19,122,412 (from NCBI)

This gene has 7 transcripts (splice variants), 211 orthologues and is associated with 1 phenotype. Ubiquitous expression in brain (RPKM 24.0), skin (RPKM 23.8) and 25 other tissues.

Summary

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. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

DGCR2 Products (4)

mRNA	Protein	Name
NM_001173533.2	NP_001167004.1	integral membrane protein DGCR2/IDD isoform 2 precursor
NM_001173534.2	NP_001167005.1	integral membrane protein DGCR2/IDD isoform 3 precursor
NM_001184781.2	NP_001171710.1	integral membrane protein DGCR2/IDD isoform 4 precursor
NM_005137.3	NP_005128.1	integral membrane protein DGCR2/IDD isoform 1 precursor

Gene Ontology

Biological Process

Biological Process GO Annotation	Evidence	References	Source
involved in cognition	IMP IMP: Inferred from mutant phenotype	23227193	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DGCR2 Protein Structure

Ldl_recept_a

Lectin_C

0
100
200
300
400
500
550 a.a.

Protein Preferred Names	Protein Names
integral membrane protein DGCR2/IDD	DiGeorge syndrome critical region protein 2

Related Diseases

Diseases	Alias
Velocardiofacial Syndrome	Shprintzen Syndrome VCFS Chromosome 22q11.2 Deletion Syndrome Vcf Syndrome Shprintzen Vcf Syndrome Vcf-Velocardiofacial Syndrome Velo-Cardio-Facial Syndrome Digeorge Syndrome 22q11 Deletion Syndrome Conotruncal Anomaly Face Syndrome
Digeorge Syndrome/Velocardiofacial Syndrome Complex 2	Distal Monosomy 10p Dgs2 Digeorge Syndrome/Velocardiofacial Syndrome Complex-2 Distal 10p Deletion Monosomy 10pter Telomeric Deletion 10p Digeorge Syndrome-Velocardiofacial Syndrome Complex 2
Digeorge Syndrome	Chromosome 22q11.2 Deletion Syndrome DGS Hypoplasia Of Thymus And Parathyroids Third And Fourth Pharyngeal Pouch Syndrome 22q11.2 Deletion Syndrome Digeorge Sequence Digeorge'S Syndrome Pharyngeal Pouch Syndrome Di-George Syndrome Shprintzen Syndrome
Hypoparathyroidism-Deafness-Renal Disease Syndrome	Barakat Syndrome Hypoparathyroidism, Deafness, Renal Disease Syndrome Hdr Syndrome Hypoparathyroidism, Sensorineural Deafness, And Renal Disease
Van Den Ende-Gupta Syndrome	VDEGS Blepharophimosis, Arachnodactyly, And Congenital Contractures Marden-Walker-Like Syndrome Marden-Walker-Like Syndrome Without Psychomotor Retardation Marden Walker Like Syndrome Marden-Walker-Like Syndrome Without Psychmotor Retardation Van Den Ende Gupta Syndrome Marden Walker Like Syndrome Without Psychomotor Retardation Blepharophimosis Arachnodactyly And Congenital Contractures
Schizophreniform Disorder	Schizophreniform Disorders Psychotic Disorders
Chromosomal Deletion Syndrome
Chromosome 22q11.2 Deletion Syndrome, Distal	22q11.2 Deletion Syndrome Autosomal Dominant Opitz G/Bbb Syndrome Catch22 Cayler Cardiofacial Syndrome Conotruncal Anomaly Face Syndrome Digeorge Syndrome Sedlackova Syndrome Shprintzen Syndrome Velocardiofacial Syndrome 22q11.2 Distal Deletion Syndrome Distal 22q11.2 Microdeletion Syndrome 22q11.2ds Vcfs Velo-Cardio-Facial Syndrome Distal Chromosome 22q11.2 Deletion Syndrome Chromosome 22q11.2 Deletion Syndrome Distal Chromosome 22q11.2 Deletion Syndrome Deletion 22q11.2 Syndrome 22q11ds Catch 22 Digeorge Sequence Microdeletion 22q11.2 Monosomy 22q11 Takao Syndrome Distal Del(22)(Q11.2) Distal Monosomy 22q11.2 Catch 22 Syndrome Chromosome Deletion Syndrome 22q11.2, Distal
Schizophrenia	SCZD Schizophrenia With Or Without An Affective Disorder Schizophrenia 12 Schizophrenia, Susceptibility To Schizophrenia-1 Dementia Praecox Schizophrenia 1
Tetralogy Of Fallot	TOF Fallot Tetralogy Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle Tetrad Of Fallot Fallot Tetrad Fallot Disease Fallot Complex Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle Interventricular Septal Defect, In Tetralogy Of Fallot Ventricular Septal Defect With Obstructed Right Ventricular Outflow Tof - [Tetralogy Of Fallot] Pulmonary Atresia With Ventricular Septal Defect [Fallot Type] Pulmonary Atresia, Ventricular Septal Defect And Mapcas Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03712	DGCR2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	DGCR2	MGD	MGI:892866
Rattus norvegicus	DGCR2	RGD	RGD:1310567