RNF8 (ring finger protein 8)

2007-04-01  

Identity

HGNC
LOCATION
6p21.2
LOCUSID
ALIAS
hRNF8
FUSION GENES

Other Information

Locus ID:

NCBI: 9025
MIM: 611685
HGNC: 10071
Ensembl: ENSG00000112130

Variants:

dbSNP: 9025
ClinVar: 9025
TCGA: ENSG00000112130
COSMIC: RNF8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000112130ENST00000229866O76064
ENSG00000112130ENST00000373479O76064
ENSG00000112130ENST00000469316F8WEW6
ENSG00000112130ENST00000469731O76064
ENSG00000112130ENST00000487950C9J858
ENSG00000112130ENST00000494320F8WDH8
ENSG00000112130ENST00000498460H7C4L7

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
Cell CycleREACTOMER-HSA-1640170
Cell Cycle CheckpointsREACTOMER-HSA-69620
G2/M CheckpointsREACTOMER-HSA-69481
G2/M DNA damage checkpointREACTOMER-HSA-69473
DNA RepairREACTOMER-HSA-73894
DNA Double-Strand Break RepairREACTOMER-HSA-5693532
DNA Double Strand Break ResponseREACTOMER-HSA-5693606
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaksREACTOMER-HSA-5693565
Homology Directed RepairREACTOMER-HSA-5693538
HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA)REACTOMER-HSA-5693567
Processing of DNA double-strand break endsREACTOMER-HSA-5693607
Nonhomologous End-Joining (NHEJ)REACTOMER-HSA-5693571

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA443560Breast NeoplasmsDiseaseClinicalAnnotation, VariantAnnotationassociatedPD30071039
PA448803carboplatinChemicalClinicalAnnotation, VariantAnnotationassociatedPD30071039
PA449383docetaxelChemicalClinicalAnnotation, VariantAnnotationassociatedPD30071039
PA451743trastuzumabChemicalClinicalAnnotation, VariantAnnotationassociatedPD30071039

References

Pubmed IDYearTitleCitations
180018242007RNF8 ubiquitylates histones at DNA double-strand breaks and promotes assembly of repair proteins.525
180018252007RNF8 transduces the DNA-damage signal via histone ubiquitylation and checkpoint protein assembly.486
180067052007Orchestration of the DNA-damage response by the RNF8 ubiquitin ligase.412
180773952007Ubc13/Rnf8 ubiquitin ligases control foci formation of the Rap80/Abraxas/Brca1/Brcc36 complex in response to DNA damage.222
223735792012RNF8- and RNF168-dependent degradation of KDM4A/JMJD2A triggers 53BP1 recruitment to DNA damage sites.147
20081839201053BP1-dependent robust localized KAP-1 phosphorylation is essential for heterochromatic DNA double-strand break repair.138
200758632010A viral E3 ligase targets RNF8 and RNF168 to control histone ubiquitination and DNA damage responses.99
197970772009Nucleotide excision repair-induced H2A ubiquitination is dependent on MDC1 and RNF8 and reveals a universal DNA damage response.86
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
222668202012The E3 ligase RNF8 regulates KU80 removal and NHEJ repair.76

Citation

Dessen P

RNF8 (ring finger protein 8)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/46867/rnf8