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2189 FANCG

2189

FANCG

FA complementation group G

protein-coding

Homo sapiens

基因描述

Type Description
Definition FA complementation group G

研究结论

Date Results Publications
2020-12-05 13:01:00 Loss of Mitochondrial Localization of Human FANCG Causes Defective FANCJ Helicase. 32989015
2019-07-20 11:02:00 In >80% of black patients with Fanconi anaemia , a homozygous seven basepair deletion mutation in the FANCG gene (NM_004629.1 g.35077270_35077264del p.Tyr213Lysfs)[2] has been confirmed as the cause of the disease. 29843852
2019-03-23 11:05:00 FANCG stimulates FANCA-mediated strand annealing and strand exchange. 30057198
2018-03-03 12:04:00 LOH may predominantly indicate copy number gains in FANCF and losses in FANCG and BRIP1. Integration of copy number data and gene expression proved difficult as the available sample sets did not overlap. 28440438
2017-07-29 11:00:00 studied the impact of mutations on the function and structure of FANCG 28024295

名称对应

Type IDs
Synonymous FAG, XRCC9
Gene
UniProtKB-ID: FANCG_HUMAN, Q53XM5_HUMAN
UniprotKB: O15287, Q53XM5
UniParc: UPI0000000CB4
EMBL: KU178053, U70310, BC000032, BC011623, AJ007669, AY795970, CH471071, AL353795, AC004472, AK312987, BT009813
Ensembl: ENSG00000221829
KO: hsa:2189
Nucleutide sequences
EMBL-CDS: AAC07981.1, AAB80802.1, AAV40841.1, AAH00032.1, CAA07602.1, AAH11623.1, EAW58401.1, EAW58402.1, ALQ33511.1, BAG35824.1, AAP88815.1
Gene_ORFName: hCG_20469
Ensembl_TRS: ENST00000378643
Protein sequencees
Ensembl_PRO: ENSP00000367910
RefSeq: NP_004620.1
Others
UniRef100: UniRef100_O15287
UniRef90: UniRef90_O15287
UniRef50: UniRef50_O15287
UniGene: Hs.591084
CCDS: CCDS6574.1

全选

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研究热度

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