RRM2B (ribonucleotide reductase regulatory TP53 inducible subunit M2B)

2003-02-01 Affiliation

Identity

HGNC

RRM2B

LOCATION

8q22.3

LOCUSID

50484

ALIAS

MTDPS8A,MTDPS8B,P53R2

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000048392	ENST00000251810	Q7LG56
ENSG00000048392	ENST00000395912	Q7LG56
ENSG00000048392	ENST00000519317	Q7LG56
ENSG00000048392	ENST00000519962	Q7LG56
ENSG00000048392	ENST00000522368	H0YAV1
ENSG00000048392	ENST00000522394	Q7LG56
ENSG00000048392	ENST00000523957	E5RG52
ENSG00000048392	ENST00000621845	A0A0C4DGZ6

Expression (GTEx)

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

Pathway	Source	External ID
Purine metabolism	KEGG	ko00230
Pyrimidine metabolism	KEGG	ko00240
Glutathione metabolism	KEGG	ko00480
p53 signaling pathway	KEGG	ko04115
Purine metabolism	KEGG	hsa00230
Pyrimidine metabolism	KEGG	hsa00240
Glutathione metabolism	KEGG	hsa00480
p53 signaling pathway	KEGG	hsa04115
Metabolic pathways	KEGG	hsa01100
Gene Expression	REACTOME	R-HSA-74160
Generic Transcription Pathway	REACTOME	R-HSA-212436
Transcriptional Regulation by TP53	REACTOME	R-HSA-3700989
TP53 Regulates Metabolic Genes	REACTOME	R-HSA-5628897
Metabolism	REACTOME	R-HSA-1430728
Metabolism of nucleotides	REACTOME	R-HSA-15869
Synthesis and interconversion of nucleotide di- and triphosphates	REACTOME	R-HSA-499943

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PD	PMIDs
PA444760	Leukemia, Myeloid, Acute	Disease	ClinicalAnnotation	associated	PD	24024897
PA449027	cladribine	Chemical	ClinicalAnnotation	associated	PD	24024897
PA449177	cytarabine	Chemical	ClinicalAnnotation	associated	PD	24024897

References

Pubmed ID	Year	Title	Citations
36882565	2023	Ribonucleotide reductase subunit switching in hepatoblastoma drug response and relapse.	2
36959467	2023	Identification of two novel RRM2B variants associated with autosomal recessive progressive external ophthalmoplegia in a family with pseudodominant inheritance pattern.	1
37964013	2023	Impact of N221S missense mutation in human ribonucleotide reductase small subunit b on mitochondrial DNA depletion syndrome.	0
36882565	2023	Ribonucleotide reductase subunit switching in hepatoblastoma drug response and relapse.	2
36959467	2023	Identification of two novel RRM2B variants associated with autosomal recessive progressive external ophthalmoplegia in a family with pseudodominant inheritance pattern.	1
37964013	2023	Impact of N221S missense mutation in human ribonucleotide reductase small subunit b on mitochondrial DNA depletion syndrome.	0
31462754	2020	The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency.	7
32161153	2020	Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia.	15
32775440	2020	Prediction of the Impact of Deleterious Nonsynonymous Single Nucleotide Polymorphisms on the Human RRM2B Gene: A Molecular Modeling Study.	3
32931159	2020	The single nucleotide variant at c.662A>G in human RRM2B is a loss-of-function mutation.	3
31462754	2020	The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency.	7
32161153	2020	Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia.	15
32775440	2020	Prediction of the Impact of Deleterious Nonsynonymous Single Nucleotide Polymorphisms on the Human RRM2B Gene: A Molecular Modeling Study.	3
32931159	2020	The single nucleotide variant at c.662A>G in human RRM2B is a loss-of-function mutation.	3
30439532	2019	A 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/js/case-report-explorer/cancer-prone-explorer/