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54676 GTPBP2

54676

GTPBP2

GTP binding protein 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition GTP binding protein 2

研究结论

Date Results Publications
2020-07-11 11:49:00 prenatal and neonatal findings as well as the first Caucasian and black African families with GTPBP2 biallelic variants, are reported. 30790272
2018-12-29 12:07:00 Biallelic inactivating variants in the GTPBP2 were identified in two patients with severe intellectual disability and structural brain abnormalities. 29449720
2018-10-06 10:24:00 GTPBP2 lacked elongation activity and did not stimulate exosomal degradation, indicating that GTPBP1 and GTPBP2 have different functions. 30108131
2016-12-17 10:24:00 It may be a novel neurodegeneration with brain iron accumulation gene. 26675814

名称对应

Type IDs
Synonymous JABELS
Gene
UniProtKB-ID: GTPB2_HUMAN, A0A024RD30_HUMAN, A8K2K2_HUMAN
UniprotKB: Q9BX10, A0A024RD30, A8K2K2
UniParc: UPI0000DD093A, UPI00015DA59B, UPI000006E84D, UPI000006EEEA, UPI0000070C45
EMBL: AB024574, AK290267, AF168990, BC028347, AL353602, CH471081, AL834331, BC020980, BC064968, AK000430
Ensembl: ENSG00000172432
KO: hsa:54676
Nucleutide sequences
EMBL-CDS: BAB12431.1, CAI12785.1, AAH64968.1, CAC36269.1, BAA91160.1, AAH20980.2, AAF78884.1, CAD38999.1, AAH28347.2, EAX04213.1, EAX04217.1, BAF82956.1
Gene_ORFName: hCG_19008
Ensembl_TRS: ENST00000307126, ENST00000307114
Protein sequencees
Ensembl_PRO: ENSP00000304893, ENSP00000303997
RefSeq: XP_016866465.1, XP_024302243.1, XP_024302246.1, NP_001273145.1, XP_024302244.1, XP_024302245.1, NP_061969.3
Others
UniRef100: UniRef100_Q9BX10, UniRef100_A8K2K2
UniRef90: UniRef90_A0A2K6KIW0, UniRef90_Q9BX10
UniRef50: UniRef50_Q9BX10
UniGene: Hs.485449
CCDS: CCDS69124.1, CCDS4903.1

全选

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