|
UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
|
Q9Y399 |
| Protein name |
Small ribosomal subunit protein uS2m (28S ribosomal protein S2, mitochondrial) (MRP-S2) (S2mt) |
| Protein function |
Required for mitoribosome formation and stability, and mitochondrial translation. |
| PDB |
3J9M
, 6NU2
, 6NU3
, 6RW4
, 6RW5
, 6VLZ
, 6VMI
, 6ZM5
, 6ZM6
, 6ZS9
, 6ZSA
, 6ZSB
, 6ZSC
, 6ZSD
, 6ZSE
, 6ZSG
, 7A5F
, 7A5G
, 7A5I
, 7A5K
, 7L08
, 7OG4
, 7P2E
, 7PNX
, 7PNY
, 7PNZ
, 7PO0
, 7PO1
, 7PO2
, 7PO3
, 7QI4
, 7QI5
, 7QI6
, 8ANY
, 8CSP
, 8CSQ
, 8CSR
, 8CSS
, 8CST
, 8CSU
, 8K2A
, 8OIR
, 8OIS
, 8QRK
, 8QRL
, 8QRM
, 8QRN
, 8RRI
, 8XT0
, 8XT2
|
| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
| PF00318 |
Ribosomal_S2 |
84 → 186 |
Ribosomal protein S2 |
Family |
| PF00318 |
Ribosomal_S2 |
183 → 260 |
Ribosomal protein S2 |
Family |
|
| Sequence |
|
| Sequence length |
296 |
| Interactions |
View interactions |
|
|
| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| MRPS2-related disorder |
Conflicting classifications of pathogenicity; Benign; Likely benign |
rs138712673, rs192357856, rs140165953, rs146754926, rs35293407, rs199707811, rs541444392, rs200709806, rs767971399, rs367848572, rs375714164, rs377751899, rs772577776, rs770947574, rs373408410 |
RCV003931171 RCV003951048 RCV003923665 RCV003933461 RCV003963393 RCV003916640 RCV003906668 RCV003929215 RCV003904722 RCV003959786 RCV003969859 RCV003929513 RCV003934710 RCV003971366 RCV003942180 |
|
|
|