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The protein encoded by this gene 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. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
RNF138 (Ring Finger Protein 138) is a Protein Coding gene. Diseases associated with RNF138 include Episodic Ataxia, Type 2 and Episodic Ataxia. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. Gene Ontology (GO) annotations related to this gene include protein kinase binding and ligase activity. An important paralog of this gene is RNF166.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003677 | DNA binding | IEA | -- |
GO:0003697 | single-stranded DNA binding | IBA,IDA | 26502055 |
GO:0005515 | protein binding | IPI | 19549727 |
GO:0008270 | zinc ion binding | IEA | -- |
GO:0016740 | transferase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | HDA | 21630459 |
GO:0005694 | chromosome | IEA | -- |
GO:0035861 | site of double-strand break | IBA,IDA | 26502055 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Class I MHC mediated antigen processing and presentation | ||
2 | Innate Immune System |
.61
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000724 | double-strand break repair via homologous recombination | IBA,IMP | 26502055 |
GO:0006281 | DNA repair | IEA | -- |
GO:0006974 | cellular response to DNA damage stimulus | IEA | -- |
GO:0010792 | DNA double-strand break processing involved in repair via single-strand annealing | IBA,IMP | 26502057 |
GO:0016055 | Wnt signaling pathway | IEA | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
pyrophosphate |
|
14000-31-8 |
|
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | · | 5c | · | 5d | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||||||
SP3: | - | - | - | ||||||||||||||||||||||||||||
SP4: | - | - | - | ||||||||||||||||||||||||||||
SP5: | - | ||||||||||||||||||||||||||||||
SP6: | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | RNF138 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | RNF138 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | RNF138 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Rnf138 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Rnf138 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Platypus (Ornithorhynchus anatinus) |
Mammalia | RNF138 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | RNF138 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | RNF138 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | rnf138 30 |
|
SNP ID | Clinical significance and condition | Chr 18 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs7229690 | - |
p.Lys81Arg |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2141547 | CNV | deletion | 18987734 |
esv2716941 | CNV | deletion | 23290073 |
esv2716942 | CNV | deletion | 23290073 |
esv2716943 | CNV | deletion | 23290073 |
esv2716944 | CNV | deletion | 23290073 |
esv2758719 | CNV | gain | 17122850 |
esv3642144 | CNV | gain | 21293372 |
esv3642146 | CNV | gain | 21293372 |
nsv1055457 | CNV | gain | 25217958 |
nsv2248 | CNV | insertion | 18451855 |
nsv962874 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
episodic ataxia, type 2 |
|
|
episodic ataxia |
|
|