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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]
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.
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 |
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 |
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 |
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 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||
SP2: | - |
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 |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
riddle syndrome |
|
|
chromosome 3q29 deletion syndrome |
|
|
chromosome 3q29 duplication syndrome |
|
|
agammaglobulinemia 4, autosomal recessive |
|
|
lig4 syndrome |
|
|