Gene Gene information from NCBI Gene database.
Entrez ID 165918
Gene name Ring finger protein 168
Gene symbol RNF168
Synonyms (NCBI Gene)
RIDLhRNF168
Chromosome 3
Chromosome location 3q29
Summary 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.
4
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.
933
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
62
GO ID Ontology Definition Evidence Reference
GO:0000077 Process DNA damage checkpoint signaling IDA 31135337
GO:0000151 Component Ubiquitin ligase complex IDA 19203578, 19203579
GO:0000151 Component Ubiquitin ligase complex IEA
GO:0003682 Function Chromatin binding IDA 19203578, 19203579, 19500350
GO:0003682 Function Chromatin binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612688 26661 ENSG00000163961
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
RIDDLE syndrome Likely pathogenic; Pathogenic rs755314562, rs375915880, rs201915239, rs1577516447, rs1047608955, rs1203276122, rs148275050 RCV001783685
RCV005630963
RCV000128863
RCV000000516
RCV000000517
View all (2 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RNF168-related disorder Likely pathogenic; Pathogenic rs201915239 RCV004755777
★★★★☆
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
CARCINOMA, NON-SMALL-CELL LUNG CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, SQUAMOUS CELL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DISORDER OF DEVELOPMENT OR MORPHOGENESIS GWAS catalog
★★☆☆☆
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
Alternating hemiplegia of childhood Alternating hemiplegia of childhood Pubtator 28398700 Associate
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis HPO_DG
★☆☆☆☆
Found in Text Mining only
Asphyxia Neonatorum Postnatal asphyxia HPO_DG
★☆☆☆☆
Found in Text Mining only
Ataxia Ataxia Pubtator 21394101 Associate
★☆☆☆☆
Found in Text Mining only
Ataxia Telangiectasia Ataxia Telangiectasia BEFREE 21394101, 25040471
★☆☆☆☆
Found in Text Mining only
Ataxia Telangiectasia Ataxia telangiectasia Pubtator 21394101 Associate
★☆☆☆☆
Found in Text Mining only
Bedwetting Nocturnal enuresis HPO_DG
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 23055523, 27558965, 28386063, 29974997
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 23055523, 29974997 Associate
★☆☆☆☆
Found in Text Mining only
Bronchitis Bronchitis HPO_DG
★☆☆☆☆
Found in Text Mining only