InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: RRM2B

Summary

InnateDB Protein

IDBP-238594.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

RRM2B

Protein Name

ribonucleotide reductase M2 B (TP53 inducible)

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000379248

InnateDB Gene

IDBG-31119 (RRM2B)

Protein Structure

UniProt Annotation

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:0000269PubMed:10716435, ECO:0000269PubMed:11517226, ECO:0000269PubMed:11719458}.

Subcellular Localization

Cytoplasm. Nucleus. Note=Translocates from cytoplasm to nucleus in response to DNA damage.

Disease Associations

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:0000269PubMed:17486094, ECO:0000269PubMed:18504129}. Note=The disease is caused by mutations affecting the gene represented in this entry.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:0000269PubMed:19667227}. Note=The disease is caused by mutations affecting the gene represented in this entry.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:0000269PubMed:19664747}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Widely expressed at a high level in skeletal muscle and at a weak level in thymus. Expressed in epithelial dysplasias and squamous cell carcinoma. {ECO:0000269PubMed:14583450}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 19 experimentally validated interaction(s) in this database.

Experimentally validated
Total	19 [view]
Protein-Protein	17 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004748	ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor
GO:0046872	metal ion binding

Biological Process

GO:0009186	deoxyribonucleoside diphosphate metabolic process
GO:0015949	nucleobase-containing small molecule interconversion
GO:0044281	small molecule metabolic process
GO:0055086	nucleobase-containing small molecule metabolic process
GO:0055114	oxidation-reduction process