| Type | Description |
|---|---|
| Definition | mitochondrial ribosomal protein S22 |
| Date | Results | Publications |
|---|---|---|
| 2019-02-16 12:03:00 | Here we report MRPS22 homozygous missense variants c.404G>A (p.R135Q) and c.605G>A (p.R202H) identified in four females from two independent consanguineous families as a novel genetic cause of Primary ovarian insufficiency in adolescents. | 29566152 |
| 2018-07-28 10:12:00 | hypertrophic cardiomyopathy and tubulopathy may not be considered as constant features of MRPS22 | 28752220 |
| 2010-12-05 22:08:00 | Observational study of gene-disease association. (HuGE Navigator) | 20877624 |
| 2010-01-21 00:00:00 | A mutation in the MRPS22 gene led to reduction of 12sRNA in fibroblasts and fatal neonatal hypertrophic cardiomyopathy & kidney tubulopathy. | 17873122 |
| 2010-01-21 00:00:00 | The effect of mutated MRPS22 on the assembly of the small and large ribosomal subunits in human mitochondria is reported. | 18539099 |
| Type | IDs |
|---|---|
| Synonymous | C3orf5, COXPD5, GIBT, GK002, MRP-S22, ODG7, RPMS22 |
| Gene |
UniProtKB-ID:
RT22_HUMAN
UniprotKB:
P82650
UniParc:
UPI0000070FC9,
UPI0000042222
EMBL:
AC119740,
AF063603,
AC069525,
AF321613,
AC130416,
AF226045,
AC024933,
BC009296
Ensembl:
ENSG00000175110
KO:
hsa:56945
|
| Nucleutide sequences |
EMBL-CDS:
AAH09296.1,
AAF86945.1,
AAK01406.1,
AAG43162.1
Gene_ORFName:
GK002
Ensembl_TRS:
ENST00000495075,
ENST00000310776,
ENST00000498505
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000418008,
ENSP00000310785,
ENSP00000420482
RefSeq:
NP_001350786.1,
NP_001350822.1,
NP_064576.1
|
| Others |
UniRef100:
UniRef100_P82650
UniRef90:
UniRef90_P82650
UniRef50:
UniRef50_P82650
UniGene:
Hs.745001
CCDS:
CCDS3107.1
|
| {{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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