Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9025
Gene name Gene Name - the full gene name approved by the HGNC.
Ring finger protein 8
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RNF8
Synonyms (NCBI Gene) Gene synonyms aliases
hRNF8
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p21.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 factor Regulation Reference
CHD4 Unknown 22531782
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000151 Component Ubiquitin ligase complex IBA 21873635
GO:0000151 Component Ubiquitin ligase complex IDA 18001824, 18001825
GO:0000781 Component Chromosome, telomeric region ISS
GO:0003682 Function Chromatin binding IDA 18001824, 18001825
GO:0004842 Function Ubiquitin-protein transferase activity IDA 18001824, 18001825, 18948756, 21911360, 22266820, 22373579, 22980979
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
611685 10071 ENSG00000112130
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Autism Autistic Disorder rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699
View all (8 more)
18621663
Associations from Text Mining
Disease Name Relationship Type References
Alternating hemiplegia of childhood Associate 28398700
Breast Neoplasms Associate 24581343, 27909234, 28216286, 31294443, 32753472, 37154586
Carcinogenesis Associate 28507061
Carcinoma Hepatocellular Associate 37154586
Chromosomal Instability Inhibit 25483088
Colorectal Neoplasms Associate 23935401
Colorectal Neoplasms Stimulate 38204601
Congenital thrombotic disease due to Protein C deficiency Associate 35428760
DNA Virus Infections Associate 32453758
Drug Hypersensitivity Associate 19797077