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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-strand break (DSB) repair. Mutations in this gene result in Riddle syndrome. [provided by RefSeq, Sep 2011] See more...
Aliases for RNF168 Gene
Aliases for RNF168 Gene
External Ids for RNF168 Gene
- HGNC: 26661
- Entrez Gene: 165918
- Ensembl: ENSG00000163961
- OMIM: 612688
- UniProtKB: Q8IYW5
Previous GeneCards Identifiers for RNF168 Gene
- GC03M197687
- GC03M196195
- GC03M193493
Summaries for RNF168 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-strand break (DSB) repair. Mutations in this gene result in Riddle syndrome. [provided by RefSeq, Sep 2011]
GeneCards Summary for RNF168 Gene
RNF168 (Ring Finger Protein 168) is a Protein Coding gene. Diseases associated with RNF168 include Riddle Syndrome and Chromosome 3Q29 Deletion Syndrome. Among its related pathways are DNA Double Strand Break Response and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include chromatin binding and ubiquitin-protein transferase activity. An important paralog of this gene is RNF169.
UniProtKB/Swiss-Prot Summary for RNF168 Gene
-
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 binding to ubiquitinated histone H2A and H2AX and amplifies the RNF8-dependent H2A ubiquitination, promoting the formation of 'Lys-63'-linked ubiquitin conjugates. This leads to concentrate ubiquitinated histones H2A and H2AX at DNA lesions to the threshold required for recruitment of TP53BP1 and BRCA1. Also recruited at DNA interstrand cross-links (ICLs) sites and promotes accumulation of 'Lys-63'-linked ubiquitination of histones H2A and H2AX, leading to recruitment of FAAP20/C1orf86 and Fanconi anemia (FA) complex, followed by interstrand cross-link repair. H2A ubiquitination also mediates the ATM-dependent transcriptional silencing at regions flanking DSBs in cis, a mechanism to avoid collision between transcription and repair intermediates. Also involved in class switch recombination in immune system, via its role in regulation of DSBs repair. Following DNA damage, promotes the ubiquitination and degradation of JMJD2A/KDM4A in collaboration with RNF8, leading to unmask H4K20me2 mark and promote the recruitment of TP53BP1 at DNA damage sites. Not able to initiate 'Lys-63'-linked ubiquitination in vitro; possibly due to partial occlusion of the UBE2N/UBC13-binding region. Catalyzes monoubiquitination of 'Lys-13' and 'Lys-15' of nucleosomal histone H2A (H2AK13Ub and H2AK15Ub, respectively).
Additional gene information for RNF168 Gene
- HGNC(26661)
- Entrez Gene(165918)
- Ensembl(ENSG00000163961)
- OMIM(612688)
- UniProtKB(Q8IYW5)
- Open Targets Platform(ENSG00000163961)
- Monarch Initiative
- Search for RNF168 at DataMed
- Search for RNF168 at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RNF168 Gene
Genomics for RNF168 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for RNF168 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around RNF168 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RNF168
- Top Transcription factor binding sites by QIAGEN in the RNF168 gene promoter:
-
- AML1a
- CBF(2)
- CBF-A
- CBF-B
- CP1A
- FOXJ2
- FOXJ2 (long isoform)
- NF-Y
- NF-YA
- NF-YB
Genomic Locations for RNF168 Gene
Genomic Locations for RNF168 Gene
- chr3:196,468,783-196,503,768
- (GRCh38/hg38)
- Size:
- 34,986 bases
- Orientation:
- Minus strand
- chr3:196,195,654-196,230,639
- (GRCh37/hg19)
- Size:
- 34,986 bases
- Orientation:
- Minus strand
Genomic View for RNF168 Gene
Genes around RNF168 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 3q29 by HGNC
- 3q29 by Entrez Gene
- 3q29 by Ensembl
RNF168 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for RNF168 Gene
Proteins for RNF168 Gene
-
Protein details for RNF168 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8IYW5-RN168_HUMAN
- Recommended name:
- E3 ubiquitin-protein ligase RNF168
- Protein Accession:
- Q8IYW5
- Q8NA67
- Q96NS4
Protein attributes for RNF168 Gene
- Size:
- 571 amino acids
- Molecular mass:
- 65020 Da
- Quaternary structure:
-
- Monomer. Interacts with UBE2N/UBC13.
- SequenceCaution:
-
- Sequence=BAC04060.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
Protein Expression for RNF168 Gene
Selected DME Specific Peptides for RNF168 Gene
- Q8IYW5:
-
- QDRLLALQLQ
- PCFSAKRRK
- RQKGSPD
- EPVTLPC
- PGELRREYEEEIS
Post-translational modifications for RNF168 Gene
- Sumoylated with SUMO1 by PIAS4 in response to double-strand breaks (DSBs).
- Ubiquitinated.
-
Ubiquitination at Lys158, Lys227, Lys232, Lys334, Lys341, Lys389, Lys399, Lys406, Lys409, Lys441, Lys455, Lys468, Lys485, Lys524, Lys528, Lys548, and Lys560
- NX_Q8IYW5 (NX_Q8IYW5-1)
- Modification sites at PhosphoSitePlus
Other Protein References for RNF168 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for RNF168
-
Abcam antibodies for RNF168
- Invitrogen Antibodies for RNF168 (AFLGC-RNF168)
-
Custom Antibody ServicesProSci Antibodies for RNF168
-
Santa Cruz Biotechnology (SCBT) Antibodies for RNF168
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for RNF168
- Origene Custom Protein Services for RNF168
-
Abcam proteins for RNF168
Domains & Families for RNF168 Gene
Gene Families for RNF168 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted intracellular proteins
Protein Domains for RNF168 Gene
- InterPro:
- Blocks:
-
- Zn-finger, RING
- ProtoNet:
Suggested Antigen Peptide Sequences for RNF168 Gene
- GenScript: Design optimal peptide antigens:
-
- RING finger protein 168 (RN168_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q8IYW5UniProtKB/Swiss-Prot:
RN168_HUMAN :- The MIU motif (motif interacting with ubiquitin) mediates the interaction with both 'Lys-48'- and 'Lys-63'-linked ubiquitin chains (PubMed:19500350). The UMI motif mediates interaction with ubiquitin with a preference for 'Lys-63'-linked ubiquitin (PubMed:21041483). The specificity for different types of ubiquitin is mediated by juxtaposition of ubiquitin-binding motifs (MIU and UMI motifs) with LR motifs (LRMs) (PubMed:22742833).
- Belongs to the RNF168 family.
- Domain:
-
- The MIU motif (motif interacting with ubiquitin) mediates the interaction with both 'Lys-48'- and 'Lys-63'-linked ubiquitin chains (PubMed:19500350). The UMI motif mediates interaction with ubiquitin with a preference for 'Lys-63'-linked ubiquitin (PubMed:21041483). The specificity for different types of ubiquitin is mediated by juxtaposition of ubiquitin-binding motifs (MIU and UMI motifs) with LR motifs (LRMs) (PubMed:22742833).
- Family:
-
- Belongs to the RNF168 family.
Function for RNF168 Gene
Molecular function for RNF168 Gene
- UniProtKB/Swiss-Prot 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 binding to ubiquitinated histone H2A and H2AX and amplifies the RNF8-dependent H2A ubiquitination, promoting the formation of 'Lys-63'-linked ubiquitin conjugates. This leads to concentrate ubiquitinated histones H2A and H2AX at DNA lesions to the threshold required for recruitment of TP53BP1 and BRCA1. Also recruited at DNA interstrand cross-links (ICLs) sites and promotes accumulation of 'Lys-63'-linked ubiquitination of histones H2A and H2AX, leading to recruitment of FAAP20/C1orf86 and Fanconi anemia (FA) complex, followed by interstrand cross-link repair. H2A ubiquitination also mediates the ATM-dependent transcriptional silencing at regions flanking DSBs in cis, a mechanism to avoid collision between transcription and repair intermediates. Also involved in class switch recombination in immune system, via its role in regulation of DSBs repair. Following DNA damage, promotes the ubiquitination and degradation of JMJD2A/KDM4A in collaboration with RNF8, leading to unmask H4K20me2 mark and promote the recruitment of TP53BP1 at DNA damage sites. Not able to initiate 'Lys-63'-linked ubiquitination in vitro; possibly due to partial occlusion of the UBE2N/UBC13-binding region. Catalyzes monoubiquitination of 'Lys-13' and 'Lys-15' of nucleosomal histone H2A (H2AK13Ub and H2AK15Ub, respectively).
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.27; Evidence={ECO:0000255|HAMAP-Rule:MF_03066};.
Enzyme Numbers (IUBMB) for RNF168 Gene
Phenotypes From GWAS Catalog for RNF168 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003682 | chromatin binding | IEA,IDA | 19203578 |
| GO:0004842 | ubiquitin-protein transferase activity | IMP | 23760478 |
| GO:0005515 | protein binding | IPI | 19203578 |
| GO:0016740 | transferase activity | IEA | -- |
| GO:0031491 | nucleosome binding | IDA | 22742833 |
Phenotypes for RNF168 Gene
- MGI mutant phenotypes for RNF168:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for RNF168:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased viability
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Increased viability with MLN4924 (a NAE inhibitor)
- Decreased shRNA abundance
- Decreased Salmonella proliferation
- Increased shRNA abundance (Z-score > 2)
- Decreased homologous recombination repair frequency
- Decreased shRNA abundance (Z-score < -2)
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for RNF168 - Select products 50% OFF >
- * RNF168 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for RNF168
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RNF168
-
Santa Cruz Biotechnology (SCBT) CRISPR for RNF168
miRNA for RNF168 Gene
- miRTarBase miRNAs that target RNF168
-
- hsa-miR-92b-3p (MIRT040572)
- hsa-miR-5581-3p (MIRT209528)
- hsa-miR-1255b-5p (MIRT469074)
- hsa-miR-6744-5p (MIRT469075)
- hsa-miR-1255a (MIRT469076)
- hsa-miR-107 (MIRT469077)
- hsa-miR-103a-3p (MIRT469078)
- hsa-miR-642b-3p (MIRT469079)
- hsa-miR-642a-3p (MIRT469080)
- hsa-miR-4717-3p (MIRT469081)
- hsa-miR-490-5p (MIRT469082)
- hsa-miR-6838-5p (MIRT469083)
- hsa-miR-425-5p (MIRT469084)
- hsa-miR-497-5p (MIRT469085)
- hsa-miR-424-5p (MIRT469086)
- hsa-miR-195-5p (MIRT469087)
- hsa-miR-16-5p (MIRT469088)
- hsa-miR-15b-5p (MIRT469089)
- hsa-miR-15a-5p (MIRT469090)
- hsa-miR-4802-3p (MIRT469091)
- hsa-miR-4643 (MIRT469092)
- mmu-miR-495-3p (MIRT577810)
- mmu-miR-1192 (MIRT577811)
- mmu-miR-322-5p (MIRT577812)
- mmu-miR-16-5p (MIRT577813)
- mmu-miR-1907 (MIRT577814)
- mmu-miR-15a-5p (MIRT577815)
- mmu-miR-195a-5p (MIRT577816)
- mmu-miR-15b-5p (MIRT577817)
- mmu-miR-497a-5p (MIRT577818)
- mmu-miR-503-5p (MIRT577819)
- mmu-miR-3087-3p (MIRT586058)
- mmu-miR-3470b (MIRT586059)
- mmu-miR-3110-5p (MIRT586060)
- mmu-miR-5125 (MIRT586061)
- mmu-miR-1264-3p (MIRT594811)
- mmu-miR-3473c (MIRT597427)
- mmu-miR-493-3p (MIRT601713)
- mmu-miR-717 (MIRT605514)
- mmu-miR-3071-5p (MIRT605515)
- mmu-miR-5119 (MIRT605516)
- hsa-miR-133b (MIRT647758)
- hsa-miR-5587-5p (MIRT647759)
- hsa-miR-133a-3p (MIRT647760)
- hsa-miR-4667-3p (MIRT647761)
- hsa-miR-6865-3p (MIRT647762)
- hsa-miR-1228-3p (MIRT647763)
- hsa-miR-3074-3p (MIRT647764)
- hsa-miR-1277-5p (MIRT647765)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RNF168
- Browse OriGene Inhibitory RNA Products For RNF168
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RNF168
Clone Products
- Applied Biological Materials (abm): Clones for RNF168 - Select products 50% OFF >
- * RNF168 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for RNF168
- Addgene plasmids for RNF168
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RNF168
Cell Line Products
-
Horizon Cell Lines for RNF168
No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for RNF168 Gene
Localization for RNF168 Gene
Subcellular locations from UniProtKB/Swiss-Prot for RNF168 Gene
- Nucleus. Note=Localizes to double-strand breaks (DSBs) sites of DNA damage. {ECO:0000255 HAMAP-Rule:MF_03066}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| cytoskeleton | 2 |
| plasma membrane | 1 |
| extracellular | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
- Nuclear bodies (4)
- Nucleoplasm (4)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000151 | ubiquitin ligase complex | IEA,IDA | 19203578 |
| GO:0005634 | nucleus | IEA,IDA | 19203578 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005829 | cytosol | IDA | -- |
| GO:0032991 | protein-containing complex | IDA | 24217620 |
Pathways & Interactions for RNF168 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | DNA Double-Strand Break Repair |
.53
|
|
| 2 | DNA Double Strand Break Response | ||
| 3 | SUMOylation |
.95
|
|
| 4 | Cell Cycle Checkpoints |
.84
|
|
| 5 | Metabolism of proteins | ||
Pathways by source for RNF168 Gene
1 BioSystems pathway for RNF168 Gene
17 Reactome pathways for RNF168 Gene
UniProtKB/Swiss-Prot Q8IYW5-RN168_HUMAN
- Pathway: Protein modification; protein ubiquitination.
Interacting Proteins for RNF168 Gene
Selected Interacting proteins:
Q8IYW5-RN168_HUMAN
ENSP00000320898
for RNF168 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for RNF168
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006281 | DNA repair | IEA | -- |
| GO:0006302 | double-strand break repair | IDA | 19203578 |
| GO:0006303 | double-strand break repair via nonhomologous end joining | TAS | -- |
| GO:0006325 | chromatin organization | IEA | -- |
| GO:0006511 | ubiquitin-dependent protein catabolic process | IDA | 22373579 |
Transcripts for RNF168 Gene
mRNA/cDNA for RNF168 Gene
- 1 REFSEQ mRNAs :
- 7 NCBI additional mRNA sequence :
- 2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000318037 5347 nts (view in UCSC)
- ENST00000437070 2202 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for RNF168 - Select products 50% OFF >
- * RNF168 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for RNF168
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RNF168
-
Santa Cruz Biotechnology (SCBT) CRISPR for RNF168
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RNF168
- Browse OriGene Inhibitory RNA Products For RNF168
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RNF168
Clone Products
- Applied Biological Materials (abm): Clones for RNF168 - Select products 50% OFF >
- * RNF168 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for RNF168
- Addgene plasmids for RNF168
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RNF168
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||||
| SP2: | - |
Relevant External Links for RNF168 Gene
- GeneLoc Exon Structure for
- RNF168
Expression for RNF168 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Testis (Reproductive System)
This gene is overexpressed in Peripheral blood mononuclear cells (56.1) and Blymphocyte (12.9).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RNF168 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RNF168
SOURCE GeneReport for Unigene cluster for RNF168 Gene:
Hs.250648Evidence on tissue expression from TISSUES for RNF168 Gene
- Nervous system(4.5)
- Kidney(2.5)
- Lung(2.4)
- Intestine(2.4)
- Spleen(2.3)
- Skin(2.2)
- Heart(2.1)
- Blood(2)
- Bone(2)
- Liver(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for RNF168 Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- immune
- integumentary
- lymphatic
- nervous
- skeleton
Regions:
Head and neck:
- brain
- face
- head
- skull
General:
- blood
- bone marrow
- skin
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for RNF168
-
OriGene qPCR primer pairs and template standards for RNF168
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for RNF168 Gene
Orthologs for RNF168 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | RNF168 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | RNF168 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | RNF168 30 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Mouse (Mus musculus) |
Mammalia | Rnf168 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Rnf168 30 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Chicken (Gallus gallus) |
Aves | RNF168 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | RNF168 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | rnf168 30 |
|
||
| Str.18706 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.6274 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | rnf168 31 |
|
OneToOne | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.3447 31 |
|
OneToOne |
- Species where no ortholog for RNF168 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Fruit Fly (Drosophila melanogaster)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for RNF168 Gene
- ENSEMBL:
- Gene Tree for RNF168 (if available)
- TreeFam:
- Gene Tree for RNF168 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for RNF168: view image
Paralogs for RNF168 Gene
Variants for RNF168 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RNF168 Gene
| SNP ID | Clinical significance and condition | Chr 03 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 487 | Pathogenic: Riddle syndrome | 196,487,559(-) | G/GC | FRAMESHIFT_VARIANT | |
| 488 | Pathogenic: Riddle syndrome | 196,472,208(-) | CTTGT/C | FRAMESHIFT_VARIANT | |
| 708391 | Benign: not provided | 196,472,671(-) | T/C | SYNONYMOUS_VARIANT | |
| 711905 | Likely Benign: not provided | 196,487,555(-) | G/A | SYNONYMOUS_VARIANT | |
| 716856 | Benign: not provided | 196,472,054(-) | G/A | MISSENSE_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2677146 | CNV | deletion | 23128226 |
| esv3599286 | CNV | loss | 21293372 |
| nsv1003066 | CNV | gain | 25217958 |
| nsv10389 | CNV | loss | 18304495 |
| nsv469831 | CNV | gain | 16826518 |
| nsv822416 | CNV | loss | 20364138 |
| nsv997797 | CNV | gain | 25217958 |
Residual Variation Intolerance Score:
71.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
7.27;
81.26% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for RNF168 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RNF168 Gene
Disorders for RNF168 Gene
(7) MalaCards diseases for RNF168 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| riddle syndrome |
|
|
| chromosome 3q29 deletion syndrome |
|
|
| chromosome 3q29 duplication syndrome |
|
|
| agammaglobulinemia 4, autosomal recessive |
|
|
| lig4 syndrome |
|
|
Search RNF168 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
RN168_HUMAN- Riddle syndrome (RIDDLES) [MIM:611943]: Characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature. Defects are probably due to impaired localization of TP53BP1 and BRCA1 at DNA lesions. {ECO:0000269 PubMed:19203578}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for RNF168
No data available for Genatlas for RNF168 Gene
Publications for RNF168 Gene
- RNF168 binds and amplifies ubiquitin conjugates on damaged chromosomes to allow accumulation of repair proteins. (PMID: 19203579) Doil C … Lukas C (Cell 2009) 2 3 4
- The mTOR-S6K pathway links growth signalling to DNA damage response by targeting RNF168. (PMID: 29403037) Xie X … Gao D (Nature cell biology 2018) 2 3
- 53BP1 is a reader of the DNA-damage-induced H2A Lys 15 ubiquitin mark. (PMID: 23760478) Fradet-Turcotte A … Durocher D (Nature 2013) 3 4
- A ubiquitin-binding protein, FAAP20, links RNF8-mediated ubiquitination to the Fanconi anemia DNA repair network. (PMID: 22705371) Yan Z … Wang W (Molecular cell 2012) 3 4
- RNF168 ubiquitinates K13-15 on H2A/H2AX to drive DNA damage signaling. (PMID: 22980979) Mattiroli F … Sixma TK (Cell 2012) 3 4
ExternalLinks
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