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9993 DGCR2

9993

DGCR2

DiGeorge syndrome critical region gene 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition DiGeorge syndrome critical region gene 2

研究结论

Date Results Publications
2019-06-15 10:54:00 While no association between DGCR2 polymorphisms and schizophrenia was found, the missense variant rs2072123 was associated to left rostral anterior cingulate thickness, showing that DGCR2 seems not to be associated directly with the schizophrenia but might be influencing the brain morphology. We also showed a DGCR2 downregulation in schizophrenia patients when compared to controls and first episode of psychosis. 30901624
2012-09-15 11:22:00 DGCR2, GPR44 and SerpinB10, found in beta cells, were negative in all other cell types within pancreas and exposed epitopes at the cell surface 22465717
2010-01-21 00:00:00 Study confirmed the association between DGCR2 & schizophrenia through genotyping of 1,400 subjects; in a gene expression analysis, the risk allele of a coding SNP associated with schizophrenia was found to be associated with a reduced expression of DGCR2. 16783572
2010-01-21 00:00:00 These data do not support a significant role of DGCR2 in the aetiology of schizophrenia in the German population. 19668116
2009-09-16 21:34:00 Observational study of gene-disease association. (HuGE Navigator) 19668116

名称对应

Type IDs
Synonymous DGS-C, IDD, LAN, SEZ-12
Gene
UniProtKB-ID: IDD_HUMAN, Q5CZ70_HUMAN, Q8IWC8_HUMAN, B7Z3T5_HUMAN
UniprotKB: P98153, Q5CZ70, Q8IWC8, B7Z3T5
UniParc: UPI00004E1581, UPI0000001613, UPI0001914B14, UPI0000074511, UPI00019154F7, UPI00018182A0
EMBL: CH471176, FJ032369, L46352, AC004461, CR456433, X84076, AC004462, AK296337, X83545, CR936871, AC004471, AC000095, D79985, AK304382, BC032430, AK291670, BC040500
Ensembl: ENSG00000070413
KO: hsa:9993
Nucleutide sequences
EMBL-CDS: BAF84359.1, CAA58536.1, AAH32430.1, ACI00235.1, EAX03061.1, AAB59561.1, CAA58883.1, BAH14171.1, CAG30319.1, BAA11480.1, CAI59783.1, AAH40500.1, BAH12321.1
Ensembl_TRS: ENST00000263196, ENST00000537045
Protein sequencees
Ensembl_PRO: ENSP00000263196, ENSP00000440062
RefSeq: NP_005128.1, NP_001167005.1, NP_001171710.1, NP_001167004.1
Others
UniRef100: UniRef100_B7Z3T5, UniRef100_Q8IWC8, UniRef100_P98153, UniRef100_Q5CZ70
UniRef90: UniRef90_Q5CZ70, UniRef90_P98153
UniRef50: UniRef50_P98153-3, UniRef50_P98153
UniGene: Hs.517357
CCDS: CCDS54496.1, CCDS33598.1

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