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128338 DRAM2

128338

DRAM2

DNA damage regulated autophagy modulator 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition DNA damage regulated autophagy modulator 2

研究结论

Date Results Publications
2020-11-21 13:28:00 Clinical Course and Electron Microscopic Findings in Lymphocytes of Patients with DRAM2-Associated Retinopathy. 32079136
2020-02-29 11:34:00 Three novel homozygous mutations in the autophagy gene DRAM2 were identified as the molecular cause of disease in the three families: c.518-1G>A, c.628_629insAG and c.693+2T>A. 31394102
2017-12-02 10:25:00 Mycobacterium tuberculosis significantly induces the expression of MIR144*/hsa-miR-144-5p, which targets the 3'-untranslated region of DRAM2. 27764573
2016-06-28 11:18:00 Genetic variants on chromosome 1p13.3 near the damage-regulated autophagy modulator 2 gene DRAM2 associated with Non-ST Elevation Myocardial Infarction (rs656843; odds ratio 1.57, P = 3.11 x 10(-10)) in the case-control analysis. 26509668
2016-05-14 11:08:00 Recessive variants in DRAM2, an autophagy regulator gene, have been recently identified as a cause of retinal dystrophy with early macular involvement 26720460

名称对应

Type IDs
Synonymous CORD21, PRO180, TMEM77, WWFQ154
Gene
UniProtKB-ID: DRAM2_HUMAN, A0A024R0B7_HUMAN
UniprotKB: Q6UX65, A0A024R0B7
UniParc: UPI000000DBA1
EMBL: AL355816, EF710624, BC091509, CH471122, AY336747, AK075350, BC047025, AY358492
Ensembl: ENSG00000156171
KO: hsa:128338
Nucleutide sequences
EMBL-CDS: ABR27678.1, AAH47025.3, AAQ88856.1, AAR02410.1, EAW56464.1, AAH91509.1, BAC11562.1, EAW56468.1, EAW56467.1
Gene_ORFName: PSEC0031, UNQ154/PRO180, hCG_39990
Ensembl_TRS: ENST00000286692, ENST00000539140
Protein sequencees
Ensembl_PRO: ENSP00000437718, ENSP00000286692
RefSeq: NP_001336815.1, NP_001336819.1, NP_001336822.1, NP_001336810.1, NP_001336816.1, NP_001336814.1, NP_848549.3, NP_001336821.1, XP_011539010.1, NP_001336811.1, NP_001336817.1, NP_001336818.1, NP_001336820.1, NP_001336813.1
Others
UniRef100: UniRef100_Q6UX65
UniRef90: UniRef90_Q6UX65
UniRef50: UniRef50_Q6UX65
UniGene: Hs.485606
CCDS: CCDS30801.1

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