| Type | Description |
|---|---|
| Definition | ribonucleotide reductase regulatory TP53 inducible subunit M2B |
| Date | Results | Publications |
|---|---|---|
| 2020-06-13 10:24:00 | Infantile-onset mitochondrial DNA depletion syndrome (MDDS) due to RRM2B deficiency is a severe disorder with characteristic clinical features and extremely poor prognosis. The biallelic truncating variants predict the worst survival outcome. | 31462754 |
| 2020-02-08 11:26:00 | This report expands our knowledge of potential pathogenic RRM2B mutations as well as our understanding of the molecular function of p53R2 and its role in the pathogenesis of mitochondrial DNA depletion. | 30439532 |
| 2019-10-12 10:54:00 | Review showed marked variety of clinical manifestations and marked variety of age at onset. Organs predominantly affected in RRM2B mutation carriers are the skeletal muscle, the brain, and the kidneys. Additionally affected may be the eyes, ears, endocrine organs, heart, gastro-intestinal tract, bone marrow, or the peripheral nerves. Phenotype and genotype in RRM2B mutation carriers are more widespread than anticipated. | 29241262 |
| 2019-07-27 11:27:00 | Our study indicates that the cochlear CHI is a phenotypic feature of the RRM2B and SERAC1 related defects. | 30909120 |
| 2019-05-04 11:36:00 | Both TNNT3 and RRM2B expression levels negatively associated with total body fat mass, whereas RRM2B positively correlated with pancreatic beta cell function. | 29596868 |
| Type | IDs |
|---|---|
| Synonymous | MTDPS8A, MTDPS8B, P53R2 |
| Gene |
UniProtKB-ID:
RIR2B_HUMAN
UniprotKB:
Q7LG56
UniParc:
UPI000015AB89,
UPI0001C4CFFD,
UPI0000253C2A,
UPI0000253C10,
UPI0000241CCC,
UPI0000241CCB
EMBL:
AB163438,
AP001328,
AB166669,
AL137348,
AB036063,
AB166670,
AK304354,
DQ027001,
BC117496,
BC108261,
AB036532,
AP002907,
AB163437,
DC308409,
BC042468,
BC130628,
AB166671,
CH471060,
AK001965
Ensembl:
ENSG00000048392
KO:
hsa:50484
|
| Nucleutide sequences |
EMBL-CDS:
AAY29059.1,
CAB70703.2,
BAD12266.1,
EAW91842.1,
AAH42468.1,
BAA92434.1,
BAD11774.1,
BAA92493.1,
BAA92005.1,
BAD12267.1,
BAD11775.1,
BAD12265.1,
AAI30629.1,
AAI08262.1,
BAG65196.1,
AAI17497.1
Ensembl_TRS:
ENST00000395912,
ENST00000522394,
ENST00000519962,
ENST00000251810,
ENST00000519317
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000429578,
ENSP00000429140,
ENSP00000379248,
ENSP00000430641,
ENSP00000251810
RefSeq:
NP_001165948.1,
NP_001165949.1,
NP_056528.2
|
| Others |
UniRef100:
UniRef100_Q7LG56
UniRef90:
UniRef90_Q7LG56
UniRef50:
UniRef50_Q7LG56
UniGene:
Hs.512592
CCDS:
CCDS34932.1,
CCDS55267.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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