Details for: RRM2B

Gene ID: 50484

Symbol: RRM2B

Ensembl ID: ENSG00000048392

Description: ribonucleotide reductase regulatory TP53 inducible subunit M2B

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 128.9979
    Cell Significance Index: -20.0700
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 77.0767
    Cell Significance Index: -19.5500
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 42.9531
    Cell Significance Index: -17.4500
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 18.3400
    Cell Significance Index: -17.5100
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 16.4118
    Cell Significance Index: -20.2400
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 7.5555
    Cell Significance Index: -20.2400
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 5.1596
    Cell Significance Index: -20.3600
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 3.3027
    Cell Significance Index: 326.7100
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: 2.8279
    Cell Significance Index: 46.6000
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.8970
    Cell Significance Index: 308.5200
  • Cell Name: centroblast (CL0009112)
    Fold Change: 1.8131
    Cell Significance Index: 4.2300
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 1.3835
    Cell Significance Index: 14.7000
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 1.1656
    Cell Significance Index: 135.8400
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 1.0719
    Cell Significance Index: 64.3500
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.8407
    Cell Significance Index: 99.1400
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.8202
    Cell Significance Index: 11.1900
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.7936
    Cell Significance Index: 716.5900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.5284
    Cell Significance Index: 106.0000
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.4451
    Cell Significance Index: 88.3300
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.4431
    Cell Significance Index: 27.9300
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.4253
    Cell Significance Index: 29.4200
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.3507
    Cell Significance Index: 191.5400
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.3152
    Cell Significance Index: 8.4500
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.2921
    Cell Significance Index: 52.6600
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.2845
    Cell Significance Index: 102.0600
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2622
    Cell Significance Index: 49.9000
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.2567
    Cell Significance Index: 13.3400
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.2410
    Cell Significance Index: 166.6600
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.2237
    Cell Significance Index: 17.1700
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.2205
    Cell Significance Index: 27.1100
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.2169
    Cell Significance Index: 4.7000
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.2134
    Cell Significance Index: 13.7700
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.1862
    Cell Significance Index: 8.4400
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.1822
    Cell Significance Index: 5.2500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.1471
    Cell Significance Index: 20.2100
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.1451
    Cell Significance Index: 1.7300
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.1448
    Cell Significance Index: 3.6200
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1256
    Cell Significance Index: 55.5500
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.1128
    Cell Significance Index: 5.2600
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0734
    Cell Significance Index: 12.5400
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.0511
    Cell Significance Index: 1.3900
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0452
    Cell Significance Index: 5.8000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0393
    Cell Significance Index: 53.4300
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.0294
    Cell Significance Index: 1.5300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0171
    Cell Significance Index: 31.5600
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0156
    Cell Significance Index: 29.3700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0146
    Cell Significance Index: 22.4100
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0104
    Cell Significance Index: 6.6200
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0050
    Cell Significance Index: 2.2700
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: 0.0020
    Cell Significance Index: 0.2200
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.0004
    Cell Significance Index: 0.0100
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0044
    Cell Significance Index: -3.2100
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0066
    Cell Significance Index: -4.9000
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0073
    Cell Significance Index: -5.5200
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.0085
    Cell Significance Index: -0.2000
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0118
    Cell Significance Index: -6.6600
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0119
    Cell Significance Index: -7.4300
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0254
    Cell Significance Index: -0.5400
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0258
    Cell Significance Index: -2.6400
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0400
    Cell Significance Index: -8.4300
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.0441
    Cell Significance Index: -0.3600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0493
    Cell Significance Index: -14.1800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0691
    Cell Significance Index: -10.0400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0749
    Cell Significance Index: -8.5800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0838
    Cell Significance Index: -4.7000
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0898
    Cell Significance Index: -6.3500
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0899
    Cell Significance Index: -3.1600
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0949
    Cell Significance Index: -7.0700
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0996
    Cell Significance Index: -3.1900
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1028
    Cell Significance Index: -13.2800
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1069
    Cell Significance Index: -6.5700
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1137
    Cell Significance Index: -5.3500
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1151
    Cell Significance Index: -7.7400
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.1307
    Cell Significance Index: -3.7300
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1519
    Cell Significance Index: -6.7200
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1731
    Cell Significance Index: -9.0900
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1781
    Cell Significance Index: -18.5500
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.1782
    Cell Significance Index: -4.5800
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.1926
    Cell Significance Index: -5.5200
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1973
    Cell Significance Index: -15.6300
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.1986
    Cell Significance Index: -7.5200
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.2079
    Cell Significance Index: -5.5600
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.2146
    Cell Significance Index: -10.8500
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.2187
    Cell Significance Index: -3.6600
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.2229
    Cell Significance Index: -4.1200
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.2593
    Cell Significance Index: -7.6200
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.2651
    Cell Significance Index: -6.9700
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.2759
    Cell Significance Index: -7.7100
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.3015
    Cell Significance Index: -6.4000
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.3251
    Cell Significance Index: -4.6600
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.3283
    Cell Significance Index: -11.4100
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.3352
    Cell Significance Index: -20.5500
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.3451
    Cell Significance Index: -5.2000
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.3674
    Cell Significance Index: -2.2200
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.3943
    Cell Significance Index: -9.6200
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.3971
    Cell Significance Index: -7.7500
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.4065
    Cell Significance Index: -13.3100
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.4196
    Cell Significance Index: -14.7000
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.4218
    Cell Significance Index: -13.4400
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.4224
    Cell Significance Index: -10.1300

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** RRM2B exhibits several key characteristics that distinguish it from other genes. Firstly, its expression is regulated by TP53, a well-established tumor suppressor protein that plays a crucial role in maintaining genomic stability. RRM2B is also involved in the deoxyribonucleotide biosynthetic process, which is essential for DNA replication, repair, and maintenance. The gene is highly expressed in cells that are involved in hematopoiesis, immune function, and tissue regeneration, highlighting its potential role in these processes. **Pathways and Functions** RRM2B is involved in several key pathways and functions, including: 1. **Deoxyribonucleotide biosynthetic process**: RRM2B is essential for the production of deoxyribonucleotides, which are necessary for DNA replication, repair, and maintenance. 2. **Cytosol and mitochondrial DNA replication**: RRM2B is also involved in the synthesis of deoxyribonucleotides in the cytosol and mitochondria, highlighting its role in maintaining genome stability. 3. **Gene expression (transcription)**: RRM2B is a transcriptional regulator that interacts with other transcription factors to modulate gene expression. 4. **Negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator**: RRM2B is involved in the negative regulation of the intrinsic apoptotic signaling pathway, which is mediated by TP53. 5. **Positive regulation of G0 to G1 transition and G2/M transition of mitotic cell cycle**: RRM2B is also involved in the regulation of cell cycle progression, highlighting its role in maintaining genomic stability. **Clinical Significance** RRM2B has significant clinical implications, particularly in the context of cancer and immune disorders. Dysregulation of RRM2B expression has been implicated in various cancers, including leukemia and lymphoma. Additionally, RRM2B has been shown to play a role in the regulation of immune responses, highlighting its potential as a therapeutic target for immune-related disorders. In conclusion, RRM2B is a critical gene that plays a vital role in maintaining genome stability and regulating cell cycle progression. Its dysregulation has significant clinical implications, particularly in the context of cancer and immune disorders. Further research is needed to fully elucidate the functional significance of RRM2B and its potential as a therapeutic target. **Significantly expressed cells** Polychromatophilic erythroblast, hematopoietic oligopotent progenitor cell, mucosal type mast cell, ciliated cell of the bronchus, orthochromatic erythroblast, CD8-alpha-beta-positive, alpha-beta intraepithelial T cell, stromal cell of bone marrow, colon goblet cell, epithelial cell of pancreas, epithelial cell of small intestine. **Proteins** RIR2B_HUMAN (Ribonucleoside-diphosphate reductase subunit M2 B)

Genular Protein ID: 2876676444

Symbol: RIR2B_HUMAN

Name: Ribonucleoside-diphosphate reductase subunit M2 B

UniProtKB Accession Codes:

Q7LG56 B4E2N4 Q17R22 Q75PQ6 Q75PQ7 Q75PY8 Q75PY9 Q86YE3 Q9NPD6 Q9NTD8 Q9NUW3

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CTD 1 ChEBI 13 ChEMBL 1 ChiTaRS 1 ComplexPortal 1 DIP 2 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 EC 2 EMBL 19 Ensembl 5 EvolutionaryTrace 1 ExpressionAtlas 1 GO 21 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 8 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 5 OrthoDB 1 PANTHER 2 PDB 3 PDBsum 3 PIR 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 6 Pumba 1 RNAct 1 Reactome 2 RefSeq 3 Rhea 3 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 10716435

Title: A ribonucleotide reductase gene involved in a p53-dependent cell-cycle checkpoint for DNA damage.

PubMed ID: 10716435

DOI: 10.1038/35003506

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 16421571

Title: DNA sequence and analysis of human chromosome 8.

PubMed ID: 16421571

DOI: 10.1038/nature04406

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 11517226

Title: Mammalian p53R2 protein forms an active ribonucleotide reductase in vitro with the R1 protein, which is expressed both in resting cells in response to DNA damage and in proliferating cells.

PubMed ID: 11517226

DOI: 10.1074/jbc.m106088200

PubMed ID: 11719458

Title: p53R2-dependent pathway for DNA synthesis in a p53-regulated cell cycle checkpoint.

PubMed ID: 11719458

PubMed ID: 12615712

Title: Wild-type p53 regulates human ribonucleotide reductase by protein-protein interaction with p53R2 as well as hRRM2 subunits.

PubMed ID: 12615712

PubMed ID: 14583450

Title: The human ribonucleotide reductase subunit hRRM2 complements p53R2 in response to UV-induced DNA repair in cells with mutant p53.

PubMed ID: 14583450

PubMed ID: 16376858

Title: Characterization of enzymatic properties of human ribonucleotide reductase holoenzyme reconstituted in vitro from hRRM1, hRRM2, and p53R2 subunits.

PubMed ID: 16376858

DOI: 10.1016/j.bbrc.2005.12.019

PubMed ID: 19664747

Title: A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions.

PubMed ID: 19664747

DOI: 10.1016/j.ajhg.2009.07.009

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 19728742

Title: 2.6 A X-ray crystal structure of human p53R2, a p53-inducible ribonucleotide reductase.

PubMed ID: 19728742

DOI: 10.1021/bi9001425

PubMed ID: 17486094

Title: Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion.

PubMed ID: 17486094

DOI: 10.1038/ng2040

PubMed ID: 18504129

Title: Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene.

PubMed ID: 18504129

DOI: 10.1016/j.nmd.2008.04.006

PubMed ID: 19667227

Title: Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B.

PubMed ID: 19667227

DOI: 10.1001/archneurol.2009.139

PubMed ID: 26741492

Title: A comprehensive genomic analysis reveals the genetic landscape of mitochondrial respiratory chain complex deficiencies.

PubMed ID: 26741492

DOI: 10.1371/journal.pgen.1005679

PubMed ID: 32827185

Title: Renal dysfunction, rod-cone dystrophy, and sensorineural hearing loss caused by a mutation in RRM2B.

PubMed ID: 32827185

DOI: 10.1002/humu.24094

Sequence Information:

  • Length: 351
  • Mass: 40737
  • Checksum: 6D008687EEF40994
  • Sequence:
    • MGDPERPEAA GLDQDERSSS DTNESEIKSN EEPLLRKSSR RFVIFPIQYP DIWKMYKQAQ 
ASFWTAEEVD LSKDLPHWNK LKADEKYFIS HILAFFAASD GIVNENLVER FSQEVQVPEA 
RCFYGFQILI ENVHSEMYSL LIDTYIRDPK KREFLFNAIE TMPYVKKKAD WALRWIADRK 
STFGERVVAF AAVEGVFFSG SFAAIFWLKK RGLMPGLTFS NELISRDEGL HCDFACLMFQ 
YLVNKPSEER VREIIVDAVK IEQEFLTEAL PVGLIGMNCI LMKQYIEFVA DRLLVELGFS 
KVFQAENPFD FMENISLEGK TNFFEKRVSE YQRFAVMAET TDNVFTLDAD F

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.