Type | Description |
---|---|
Definition | GTP binding protein 2 |
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 |
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
|
{{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
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Refseq |
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