DGCR2 (DiGeorge syndrome critical region gene 2)

2014-11-01  

Identity

HGNC
LOCATION
22q11.21
LOCUSID
ALIAS
DGS-C,IDD,LAN,SEZ-12
FUSION GENES

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

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
224657172012Novel pancreatic beta cell-specific proteins: antibody-based proteomics for identification of new biomarker candidates.21
167835722006A complete genetic association scan of the 22q11 deletion region and functional evidence reveal an association between DGCR2 and schizophrenia.12
187974022008Replication study for associations between polymorphisms in the CLDN5 and DGCR2 genes in the 22q11 deletion syndrome region and schizophrenia.1
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
309016242019DGCR2 influences cortical thickness through a mechanism independent of schizophrenia pathogenesis.0

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/dgcr2