DGCR2 - DiGeorge syndrome critical region gene 2 Gene

Homo sapiens

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

Gene ID: 9993 | Gene type: protein coding

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	Reference	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

Bioactive Molecules (1)

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

Orthologs Information

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

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