MRPS2
entrez
51116
canonical
uniprot
Q9Y399
canonical
ensembl
ENSG00000122140
resolver
ensp
ENSP00000241600
resolver
ensp
ENSP00000360850
resolver
enst
ENST00000241600
resolver
enst
ENST00000371785
resolver
genesymbol
MRPS2
resolver
hgnc
HGNC:14495
resolver
uniprot
Q5T899
resolver
uniprot
Q9BSQ4
resolver
uniprot_entry
RT02_HUMAN
resolver
uniprot_sec
Q5T899
resolver
uniprot_sec
Q9BSQ4
resolver
amino_acid_sequence
MATSSAALPRILGAGARAPSRWLGFLGKATPRPARPSRRTLGSATALMIRESEDSTDFNDKILNEPLKHSDFFNVKELFSVRSLFDARVHLGHKAGCRHRFMEPYIFGSRLDHDIIDLEQTATHLQLALNFTAHMAYRKGIILFISRNRQFSYLIENMARDCGEYAHTRYFRGGMLTNARLLFGPTVRLPDLIIFLHTLNNIFEPHVAVRDAAKMNIPTVGIVDTNCNPCLITYPVPGNDDSPLAVHLYCRLFQTAITRAKEKRQQVEALYRLQGQKEPGDQGPAHPPGADMSHSL
uniprot
proteins
disease_involvement
DISEASE: Combined oxidative phosphorylation deficiency 36 (COXPD36) [MIM:617950]: An autosomal recessive, multisystem disease resulting from deficiencies of mitochondrial respiratory enzyme complexes and mitochondrial dysfunction. Clinical manifestations include sensorineural hearing impairment, mild developmental delay, hypoglycemia, and intellectual disability. {ECO:0000269|PubMed:29576219}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Required for mitoribosome formation and stability, and mitochondrial translation. {ECO:0000269|PubMed:29576219}.
uniprot
proteins
mass_dalton
33249
uniprot
proteins
protein_family
Universal ribosomal protein uS2 family
uniprot
proteins
pubmed
10810093
uniprot
proteins
pubmed
11279123
uniprot
proteins
pubmed
11402041
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
25838379
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
29576219
uniprot
proteins
sequence_length
296
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:25838379}.
uniprot
proteins