Gene Gene information from NCBI Gene database.
Entrez ID 9025
Gene name Ring finger protein 8
Gene symbol RNF8
Synonyms (NCBI Gene)
hRNF8
Chromosome 6
Chromosome location 6p21.2
Summary The protein encoded by this gene contains a RING finger motif and an FHA domain. This protein has been shown to interact with several class II ubiquitin-conjugating enzymes (E2), including UBE2E1/UBCH6, UBE2E2, and UBE2E3, and may act as an ubiquitin liga
miRNA miRNA information provided by mirtarbase database.
356
miRTarBase ID miRNA Experiments Reference
MIRT717307 hsa-miR-141-5p HITS-CLIP 19536157
MIRT717306 hsa-miR-4744 HITS-CLIP 19536157
MIRT717305 hsa-miR-4509 HITS-CLIP 19536157
MIRT717304 hsa-miR-520f-5p HITS-CLIP 19536157
MIRT717303 hsa-miR-7110-3p HITS-CLIP 19536157
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
CHD4 Unknown 22531782
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
68
GO ID Ontology Definition Evidence Reference
GO:0000151 Component Ubiquitin ligase complex IBA
GO:0000151 Component Ubiquitin ligase complex IDA 18001824, 18001825
GO:0000151 Component Ubiquitin ligase complex IEA
GO:0000781 Component Chromosome, telomeric region IEA
GO:0000781 Component Chromosome, telomeric region ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611685 10071 ENSG00000112130
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O76064
Protein name E3 ubiquitin-protein ligase RNF8 (hRNF8) (EC 2.3.2.27) (RING finger protein 8) (RING-type E3 ubiquitin transferase RNF8)
Protein function E3 ubiquitin-protein ligase that plays a key role in DNA damage signaling via 2 distinct roles: by mediating the 'Lys-63'-linked ubiquitination of histones H2A and H2AX and promoting the recruitment of DNA repair proteins at double-strand breaks
PDB 2CSW , 2PIE , 4AYC , 4ORH , 4WHV
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00498 FHA 38 109 FHA domain Family
PF13920 zf-C3HC4_3 399 447 Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. In fetal tissues, highest expression in brain, thymus and liver. In adult tissues, highest levels in brain and testis, lowest levels in peripheral blood cells. {ECO:0000269|PubMed:16215985, ECO:0000269|PubMed:9852682}.
Sequence
MGEPGFFVTGDRAGGRSWCLRRVGMSAGWLLLEDGCEVTVGRGFGVTYQLVSKICPLMIS
RNHCVLKQNPEGQWTIMDNKSLNGVWLNRARLEPLRVYSIHQGDYIQLG
VPLENKENAEY
EYEVTEEDWETIYPCLSPKNDQMIEKNKELRTKRKFSLDELAGPGAEGPSNLKSKINKVS
CESGQPVKSQGKGEVASTPSDNLDPKLTALEPSKTTGAPIYPGFPKVTEVHHEQKASNSS
ASQRSLQMFKVTMSRILRLKIQMQEKHEAVMNVKKQTQKGNSKKVVQMEQELQDLQSQLC
AEQAQQQARVEQLEKTFQEEEQHLQGLEIAQGEKDLKQQLAQALQEHWALMEELNRSKKD
FEAIIQAKNKELEQTKEEKEKMQAQKEEVLSHMNDVLENELQCIICSEYFIEAVTLNCAH
SFCSYCINEWMKRKIECPICRKDIKSK
TYSLVLDNCINKMVNNLSSEVKERRIVLIRERK
AKRLF
Sequence length 485
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
Nonhomologous End-Joining (NHEJ)
Processing of DNA double-strand break ends
G2/M DNA damage checkpoint
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTISTIC DISORDER CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 30992691
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma BEFREE 29321089
★☆☆☆☆
Found in Text Mining only
Alternating hemiplegia of childhood Alternating hemiplegia of childhood Pubtator 28398700 Associate
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism CTD_human_DG 18621663
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bladder Neoplasm Bladder Neoplasm BEFREE 26788910
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 21774837, 27618486, 27909234, 28216286, 30222135, 31709182
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 24581343, 27909234, 28216286, 31294443, 32753472, 37154586 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 28507061 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 37154586 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of bladder Bladder carcinoma BEFREE 26788910
★☆☆☆☆
Found in Text Mining only