DGCR6 (DiGeorge syndrome critical region gene 6)

2014-11-01  

Identity

HGNC
DGCR6
LOCATION
22q11.21
LOCUSID
8214
ALIAS
-

Other Information

Locus ID:

NCBI: 8214
MIM: 601279
HGNC: 2846
Ensembl: ENSG00000183628

Variants:

dbSNP: 8214
ClinVar: 8214
TCGA: ENSG00000183628
COSMIC: DGCR6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000183628ENST00000331444Q14129
ENSG00000183628ENST00000331444X5D7D2
ENSG00000183628ENST00000413981Q6FGH4
ENSG00000183628ENST00000427407Q14129
ENSG00000183628ENST00000480608K7ELY4
ENSG00000183628ENST00000483718K7EPQ2
ENSG00000183628ENST00000608842K7ELY4

Expression (GTEx)

0
5
10
15
20
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

References

Pubmed IDYearTitleCitations
118912832002Genetic variation at the 22q11 PRODH2/DGCR6 locus presents an unusual pattern and increases susceptibility to schizophrenia.79
203989082010Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients.32
119599252002A compelling genetic hypothesis for a complex disease: PRODH2/DGCR6 variation leads to schizophrenia susceptibility.12
228329052012Dysregulation of DGCR6 and DGCR6L: psychopathological outcomes in chromosome 22q11.2 deletion syndrome.7
200366412010GABA(B) receptor subunit 1 binds to proteins affected in 22q11 deletion syndrome.4
269784852016The 22q11 PRODH/DGCR6 deletion is frequent in hyperprolinemic subjects but is not a strong risk factor for ASD.1

Citation

Dessen P

DGCR6 (DiGeorge syndrome critical region gene 6)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62453/dgcr6