RRM2B gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol RRM2B
Gene name ribonucleotide reductase M2 B (TP53 inducible)
Chromosome 8
Chromosomal band q23.1
Imprinted Unknown
Genomic reference NC_000008.10
Transcript reference NM_001172477.1, NM_001172478.1, NM_015713.4
Associated with diseases 612075, PEOA5
Citation reference(s) -
Curators (0) -
Total number of public variants reported 23
Unique public DNA variants reported 23
Individuals with public variants 0
Hidden variants 0
Download all this gene's data Download all data
Notes MSeqDR-LSDB
Date created November 07, 2013

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 17296
Entrez Gene 50484
PubMed articles RRM2B
OMIM - Gene 604712
OMIM - Diseases 612075 (Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 (3))
PEOA5 (Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5, PEOA5)
HGMD RRM2B
GeneCards RRM2B
GeneTests RRM2B


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000284 8 transcript variant 3 NM_001172478.1 NP_001165949.1 23
00000285 8 transcript variant 1 NM_015713.4 NP_056528.2 23
00000286 8 transcript variant 2 NM_001172477.1 NP_001165948.1 23


Copyright & disclaimer
Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium