Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
165918
Gene name Gene Name - the full gene name approved by the HGNC.
Ring finger protein 168
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RNF168
Synonyms (NCBI Gene) Gene synonyms aliases
RIDL, hRNF168
Disease Acronyms (UniProt) Disease acronyms from UniProt database
RIDL
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q29
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes an E3 ubiquitin ligase protein that contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-DNA and protein-protein interactions. The protein is involved in DNA double-st
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs148275050 G>A Likely-pathogenic Stop gained, coding sequence variant
rs201915239 G>A Pathogenic, likely-pathogenic Coding sequence variant, stop gained
rs1047608955 GTTT>- Pathogenic Frameshift variant, coding sequence variant
rs1577516447 ->C Pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT040572 hsa-miR-92b-3p CLASH 23622248
MIRT647765 hsa-miR-1277-5p HITS-CLIP 23824327
MIRT647764 hsa-miR-3074-3p HITS-CLIP 23824327
MIRT647763 hsa-miR-1228-3p HITS-CLIP 23824327
MIRT647762 hsa-miR-6865-3p HITS-CLIP 23824327
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 IDA 19203578, 19203579
GO:0003682 Function Chromatin binding IDA 19203578, 19203579, 19500350
GO:0004842 Function Ubiquitin-protein transferase activity IDA 19203578, 19203579, 19500350, 22373579, 22980979
GO:0004842 Function Ubiquitin-protein transferase activity IMP 23760478
GO:0005515 Function Protein binding IPI 15231748, 19203578, 22373579, 26503038, 32296183, 32814053
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
612688 26661 ENSG00000163961
Protein
UniProt ID Q8IYW5
Protein name E3 ubiquitin-protein ligase RNF168 (hRNF168) (EC 2.3.2.27) (RING finger protein 168) (RING-type E3 ubiquitin transferase RNF168)
Protein function E3 ubiquitin-protein ligase required for accumulation of repair proteins to sites of DNA damage. Acts with UBE2N/UBC13 to amplify the RNF8-dependent histone ubiquitination. Recruited to sites of DNA damage at double-strand breaks (DSBs) by bindi
PDB 3L11 , 4GB0 , 5XIS , 5XIT , 5XIU , 5YDK , 8SMW , 8SMX , 8SMY , 8SMZ , 8SN0 , 8SN1 , 8SN2 , 8SN3 , 8SN4 , 8SN5 , 8SN6 , 8SN7 , 8SN8 , 8SN9 , 8SNA , 8TXV , 8TXW , 8TXX , 8U13 , 8U14 , 8UPF , 8UQ8 , 8UQ9 , 8UQA , 8UQB , 8UQC , 8UQD , 8UQE , 8X7I , 8X7J , 8X7K , 9IPU
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14447 Prok-RING_4 16 64 Family
Sequence
MALPKDAIPSLSECQCGICMEILVEPVTLPCNHTLCKPCFQSTVEKASLCCPFCRRRVSS
WTRY
HTRRNSLVNVELWTIIQKHYPRECKLRASGQESEEVADDYQPVRLLSKPGELRREY
EEEISKVAAERRASEEEENKASEEYIQRLLAEEEEEEKRQAEKRRRAMEEQLKSDEELAR
KLSIDINNFCEGSISASPLNSRKSDPVTPKSEKKSKNKQRNTGDIQKYLTPKSQFGSASH
SEAVQEVRKDSVSKDIDSSDRKSPTGQDTEIEDMPTLSPQISLGVGEQGADSSIESPMPW
LCACGAEWYHEGNVKTRPSNHGKELCVLSHERPKTRVPYSKETAVMPCGRTESGCAPTSG
VTQTNGNNTGETENEESCLLISKEISKRKNQESSFEAVKDPCFSAKRRKVSPESSPDQEE
TEINFTQKLIDLEHLLFERHKQEEQDRLLALQLQKEVDKEQMVPNRQKGSPDEYHLRATS
SPPDKVLNGQRKNPKDGNFKRQTHTKHPTPERGSRDKNRQVSLKMQLKQSVNRRKMPNST
RDHCKVSKSAHSLQPSISQKSVFQMFQRCTK
Sequence length 571
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    SUMOylation of DNA damage response and repair proteins
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
Arthritis Arthritis rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Microcephaly Microcephaly rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019
View all (280 more)
Pulmonary fibrosis Pulmonary Fibrosis rs121918666, rs199422300, rs121917834, rs199422294, rs201159197, rs199422297, rs199422305, rs751381953, rs876661305, rs878853260, rs1555811762, rs1060502990, rs1555903332, rs1554038539, rs1554042899
View all (1 more)
Unknown
Disease term Disease name Evidence References Source
Otitis media Otitis Media ClinVar
Specific learning disorder Specific learning disability ClinVar
Associations from Text Mining
Disease Name Relationship Type References
Alternating hemiplegia of childhood Associate 28398700
Ataxia Associate 21394101
Ataxia Telangiectasia Associate 21394101
Breast Neoplasms Associate 23055523, 29974997
Carcinogenesis Associate 22884692
Chromosomal Instability with Tissue Specific Radiosensitivity Associate 21626679
Chromosome 3q29 Deletion Syndrome Associate 21626679
COVID 19 Associate 33867526
Cytokine Release Syndrome Associate 33867526
Esophageal Neoplasms Associate 30506884, 33493132