RRM2B
entrez
50484
canonical
uniprot
Q7LG56
canonical
ensembl
ENSG00000048392
resolver
ensp
ENSP00000251810
resolver
ensp
ENSP00000379248
resolver
ensp
ENSP00000428115
resolver
genesymbol
RRM2B
resolver
genesymbol_syn
P53R2
resolver
hgnc
HGNC:17296
resolver
uniprot
B4E2N4
resolver
uniprot
Q17R22
resolver
uniprot
Q75PQ6
resolver
uniprot
Q75PQ7
resolver
uniprot
Q75PY8
resolver
uniprot
Q75PY9
resolver
uniprot
Q86YE3
resolver
uniprot
Q9NPD6
resolver
uniprot
Q9NTD8
resolver
uniprot
Q9NUW3
resolver
uniprot_entry
RIR2B_HUMAN
resolver
uniprot_sec
B4E2N4
resolver
uniprot_sec
Q17R22
resolver
uniprot_sec
Q75PQ6
resolver
uniprot_sec
Q75PQ7
resolver
uniprot_sec
Q75PY8
resolver
uniprot_sec
Q75PY9
resolver
uniprot_sec
Q86YE3
resolver
uniprot_sec
Q9NPD6
resolver
uniprot_sec
Q9NTD8
resolver
uniprot_sec
Q9NUW3
resolver
amino_acid_sequence
MGDPERPEAAGLDQDERSSSDTNESEIKSNEEPLLRKSSRRFVIFPIQYPDIWKMYKQAQASFWTAEEVDLSKDLPHWNKLKADEKYFISHILAFFAASDGIVNENLVERFSQEVQVPEARCFYGFQILIENVHSEMYSLLIDTYIRDPKKREFLFNAIETMPYVKKKADWALRWIADRKSTFGERVVAFAAVEGVFFSGSFAAIFWLKKRGLMPGLTFSNELISRDEGLHCDFACLMFQYLVNKPSEERVREIIVDAVKIEQEFLTEALPVGLIGMNCILMKQYIEFVADRLLVELGFSKVFQAENPFDFMENISLEGKTNFFEKRVSEYQRFAVMAETTDNVFTLDADF
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial DNA depletion syndrome 8A (MTDPS8A) [MIM:612075]: A disorder due to mitochondrial dysfunction characterized by various combinations of neonatal hypotonia, neurological deterioration, respiratory distress, lactic acidosis, and renal tubulopathy. {ECO:0000269|PubMed:17486094, ECO:0000269|PubMed:18504129}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Mitochondrial DNA depletion syndrome 8B (MTDPS8B) [MIM:612075]: A disease due to mitochondrial dysfunction and characterized by ophthalmoplegia, ptosis, gastrointestinal dysmotility, cachexia, peripheral neuropathy. {ECO:0000269|PubMed:19667227}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5 (PEOA5) [MIM:613077]: A disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. {ECO:0000269|PubMed:19664747}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction (RCDFRD) [MIM:268315]: An autosomal recessive disease characterized by visual impairment due to rod-cone dystrophy, sensorineural hearing loss, and Fanconi-type renal dysfunction resulting in rickets-like skeletal changes. Death may occur in childhood or young adulthood due to renal failure. Disease onset is before age 5 years. {ECO:0000269|PubMed:32827185}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.17.4.1
uniprot
proteins
function
FUNCTION: Plays a pivotal role in cell survival by repairing damaged DNA in a p53/TP53-dependent manner. Supplies deoxyribonucleotides for DNA repair in cells arrested at G1 or G2. Contains an iron-tyrosyl free radical center required for catalysis. Forms an active ribonucleotide reductase (RNR) complex with RRM1 which is expressed both in resting and proliferating cells in response to DNA damage. {ECO:0000269|PubMed:10716435, ECO:0000269|PubMed:11517226, ECO:0000269|PubMed:11719458}.
uniprot
proteins
mass_dalton
40737
uniprot
proteins
protein_family
Ribonucleoside diphosphate reductase small chain family
uniprot
proteins
pubmed
10716435
uniprot
proteins
pubmed
11517226
uniprot
proteins
pubmed
11719458
uniprot
proteins
pubmed
12615712
uniprot
proteins
pubmed
14583450
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16376858
uniprot
proteins
pubmed
16421571
uniprot
proteins
pubmed
17486094
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18504129
uniprot
proteins
pubmed
19664747
uniprot
proteins
pubmed
19667227
uniprot
proteins
pubmed
19728742
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
26741492
uniprot
proteins
pubmed
32827185
uniprot
proteins
sequence_length
351
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Translocates from cytoplasm to nucleus in response to DNA damage.
uniprot
proteins