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8214 DGCR6

8214

DGCR6

DiGeorge syndrome critical region gene 6

protein-coding

Homo sapiens

基因描述

Type Description
Definition DiGeorge syndrome critical region gene 6

研究结论

Date Results Publications
2016-12-17 10:11:00 the frequency of a recurrent small 22q11.2 deletion encompassing PRODH and the neighboring DGCR6 gene in three case-control studies, was studied. 26978485
2013-03-09 11:02:00 Further studies are now needed to test the usefulness of DGCR6 and DGCR6L expression and alterations in the epigenome at these loci in predicting childhood anxiety and associated adult-onset pathologies in 22q11DS subjects. 22832905
2010-06-30 22:06:00 Observational study of gene-disease association. (HuGE Navigator) 20398908
2010-03-22 11:30:00 GABAB1 subunits interact with DGCR6 in the endoplasmic reticulum prior to their recruitment into functional GABAB receptors. 20036641
2010-01-21 00:00:00 A compelling genetic hypothesis for a complex disease: PRODH2/DGCR6 variation leads to schizophrenia susceptibility. 11959925

名称对应

Type IDs
Gene
UniProtKB-ID: DGCR6_HUMAN, X5D7D2_HUMAN
UniprotKB: Q14129, X5D7D2
UniParc: UPI00028408BD, UPI000000DBA4
EMBL: BC047039, AK315115, AF228707, AC007326, CH471176, CR456434, KJ534820, X96484, KJ535003
Ensembl: ENSG00000183628
KO: hsa:8214
Nucleutide sequences
EMBL-CDS: BAG37572.1, AAH47039.1, EAX03077.1, EAX03075.1, AHW56642.1, AAK15584.1, CAA65339.1, CAG30320.1, AHW56460.1
Ensembl_TRS: ENST00000331444, ENST00000427407
Protein sequencees
Ensembl_PRO: ENSP00000397633, ENSP00000331681
RefSeq: XP_011528696.1, NP_005666.2
Others
UniRef100: UniRef100_Q14129
UniRef90: UniRef90_Q14129
UniRef50: UniRef50_Q14129
UniGene: Hs.474185
CCDS: CCDS13753.1

全选

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