RRM2B (ribonucleotide reductase regulatory TP53 inducible subunit M2B)

2003-02-01  

Identity

HGNC
RRM2B
LOCATION
8q22.3
LOCUSID
50484
ALIAS
MTDPS8A,MTDPS8B,P53R2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 50484
MIM: 604712
HGNC: 17296
Ensembl: ENSG00000048392

Variants:

dbSNP: 50484
ClinVar: 50484
TCGA: ENSG00000048392
COSMIC: RRM2B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000048392ENST00000251810Q7LG56
ENSG00000048392ENST00000395912Q7LG56
ENSG00000048392ENST00000519317Q7LG56
ENSG00000048392ENST00000519962Q7LG56
ENSG00000048392ENST00000522368H0YAV1
ENSG00000048392ENST00000522394Q7LG56
ENSG00000048392ENST00000523957E5RG52
ENSG00000048392ENST00000621845A0A0C4DGZ6

Expression (GTEx)

0
5
10
15
20
25
30
35
40
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Purine metabolismKEGGko00230
Pyrimidine metabolismKEGGko00240
Glutathione metabolismKEGGko00480
p53 signaling pathwayKEGGko04115
Purine metabolismKEGGhsa00230
Pyrimidine metabolismKEGGhsa00240
Glutathione metabolismKEGGhsa00480
p53 signaling pathwayKEGGhsa04115
Metabolic pathwaysKEGGhsa01100
Gene ExpressionREACTOMER-HSA-74160
Generic Transcription PathwayREACTOMER-HSA-212436
Transcriptional Regulation by TP53REACTOMER-HSA-3700989
TP53 Regulates Metabolic GenesREACTOMER-HSA-5628897
MetabolismREACTOMER-HSA-1430728
Metabolism of nucleotidesREACTOMER-HSA-15869
Synthesis and interconversion of nucleotide di- and triphosphatesREACTOMER-HSA-499943

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA444760Leukemia, Myeloid, AcuteDiseaseClinicalAnnotationassociatedPD24024897
PA449027cladribineChemicalClinicalAnnotationassociatedPD24024897
PA449177cytarabineChemicalClinicalAnnotationassociatedPD24024897

References

Pubmed IDYearTitleCitations
368825652023Ribonucleotide reductase subunit switching in hepatoblastoma drug response and relapse.2
369594672023Identification of two novel RRM2B variants associated with autosomal recessive progressive external ophthalmoplegia in a family with pseudodominant inheritance pattern.1
379640132023Impact of N221S missense mutation in human ribonucleotide reductase small subunit b on mitochondrial DNA depletion syndrome.0
368825652023Ribonucleotide reductase subunit switching in hepatoblastoma drug response and relapse.2
369594672023Identification of two novel RRM2B variants associated with autosomal recessive progressive external ophthalmoplegia in a family with pseudodominant inheritance pattern.1
379640132023Impact of N221S missense mutation in human ribonucleotide reductase small subunit b on mitochondrial DNA depletion syndrome.0
314627542020The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency.7
321611532020Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia.15
327754402020Prediction of the Impact of Deleterious Nonsynonymous Single Nucleotide Polymorphisms on the Human RRM2B Gene: A Molecular Modeling Study.3
329311592020The single nucleotide variant at c.662A>G in human RRM2B is a loss-of-function mutation.3
314627542020The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency.7
321611532020Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia.15
327754402020Prediction of the Impact of Deleterious Nonsynonymous Single Nucleotide Polymorphisms on the Human RRM2B Gene: A Molecular Modeling Study.3
329311592020The single nucleotide variant at c.662A>G in human RRM2B is a loss-of-function mutation.3
304395322019A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death.4

Citation

Dessen P

RRM2B (ribonucleotide reductase regulatory TP53 inducible subunit M2B)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/42176/rrm2b-(ribonucleotide-reductase-regulatory-tp53-inducible-subunit-m2b)