| Type | Description |
|---|---|
| Definition | G elongation factor mitochondrial 2 |
| Date | Results | Publications |
|---|---|---|
| 2016-04-16 11:20:00 | GFM2 mutations could be causative of a phenotype of Leigh syndrome with arthrogryposis multiplex congenita. | 26016410 |
| 2012-09-29 11:07:00 | These findings constitute the first reported phenotype associated with SNPs in the EF-G2mt gene and implicate the human EF-G2mt gene as a pharmacogenetic candidate gene for statin toxicity in humans | 22719265 |
| 2010-12-05 22:08:00 | Observational study of gene-disease association. (HuGE Navigator) | 20877624 |
| 2010-01-21 00:00:00 | EF-G2mt is an exclusive recycling factor in mammalian mitochondrial protein synthesis. | 19716793 |
| 2010-01-21 00:00:00 | Myoblasts isolated from the MELAS patients show A3243G mutation in tRNALeu(UUR) produces a severe respiratory chain deficiency and this phenotype can be partially suppressed by overexpression of EFTu and EFG2. | 18753147 |
| Type | IDs |
|---|---|
| Synonymous | EF-G2mt, EFG2, MRRF2, MST027, MSTP027, RRF2, RRF2mt, hEFG2, mEF-G 2 |
| Gene |
UniProtKB-ID:
RRF2M_HUMAN,
A0A024RAJ7_HUMAN,
A0A024RAK1_HUMAN
UniprotKB:
Q969S9,
A0A024RAJ7,
A0A024RAK1
UniParc:
UPI000002A8C0,
UPI0000071BF9,
UPI0000129CA7,
UPI0001B78F6A,
UPI0001B78F69
EMBL:
AY453587,
AK025314,
AF367997,
BC030612,
AF111808,
CH471084,
BC015712
Ensembl:
ENSG00000164347
KO:
hsa:84340
|
| Nucleutide sequences |
EMBL-CDS:
AAK53401.1,
EAW95744.1,
AAH15712.1,
BAB15109.1,
AAS49035.1,
AAL39010.1,
AAH30612.1,
EAW95747.1,
EAW95745.1,
EAW95746.1,
EAW95743.1
Gene_ORFName:
MSTP027,
hCG_38200,
hCG_38200
Ensembl_TRS:
ENST00000509430,
ENST00000427854,
ENST00000296805,
ENST00000345239
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000296804,
ENSP00000296805,
ENSP00000427004,
ENSP00000405808
RefSeq:
NP_733792.1,
XP_016865475.1,
XP_011541993.1,
NP_001268231.1,
NP_733781.1,
NP_115756.2
|
| Others |
UniRef100:
UniRef100_Q969S9,
UniRef100_A0A024RAJ7
UniRef90:
UniRef90_Q969S9
UniRef50:
UniRef50_Q969S9
UniGene:
Hs.277154,
Hs.656975
CCDS:
CCDS4024.1,
CCDS47232.1,
CCDS4023.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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