DGCR2 (DiGeorge syndrome critical region gene 2)

2014-11-01  

Identity

HGNC
DGCR2
LOCATION
22q11.21
LOCUSID
9993
ALIAS
DGS-C,IDD,LAN,SEZ-12
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9993
MIM: 600594
HGNC: 2845
Ensembl: ENSG00000070413

Variants:

dbSNP: 9993
ClinVar: 9993
TCGA: ENSG00000070413
COSMIC: DGCR2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000070413ENST00000263196P98153
ENSG00000070413ENST00000389262B7Z3C4
ENSG00000070413ENST00000537045P98153
ENSG00000070413ENST00000545799F6SYP7

Expression (GTEx)

0
50
100
150
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
309016242019DGCR2 influences cortical thickness through a mechanism independent of schizophrenia pathogenesis.2
309016242019DGCR2 influences cortical thickness through a mechanism independent of schizophrenia pathogenesis.2
224657172012Novel pancreatic beta cell-specific proteins: antibody-based proteomics for identification of new biomarker candidates.32
224657172012Novel pancreatic beta cell-specific proteins: antibody-based proteomics for identification of new biomarker candidates.32
196681162009No association between genetic variants at the DGCR2 gene and schizophrenia in a German sample.0
196681162009No association between genetic variants at the DGCR2 gene and schizophrenia in a German sample.0
196681162009No association between genetic variants at the DGCR2 gene and schizophrenia in a German sample.0
196681162009No association between genetic variants at the DGCR2 gene and schizophrenia in a German sample.0
187974022008Replication study for associations between polymorphisms in the CLDN5 and DGCR2 genes in the 22q11 deletion syndrome region and schizophrenia.1
187974022008Replication study for associations between polymorphisms in the CLDN5 and DGCR2 genes in the 22q11 deletion syndrome region and schizophrenia.1
167835722006A complete genetic association scan of the 22q11 deletion region and functional evidence reveal an association between DGCR2 and schizophrenia.15
167835722006A complete genetic association scan of the 22q11 deletion region and functional evidence reveal an association between DGCR2 and schizophrenia.15

Citation

Dessen P

DGCR2 (DiGeorge syndrome critical region gene 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62451/css/js/case-report-explorer/