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RMI2 is a component of the BLM (RECQL3; MIM 604610) complex, which plays a role in homologous recombination-dependent DNA repair and is essential for genome stability (Xu et al., 2008 [PubMed 18923082]).[supplied by OMIM, Nov 2008]
RMI2 (RecQ Mediated Genome Instability 2) is a Protein Coding gene. Diseases associated with RMI2 include Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 and Malignant Ovarian Cyst. Among its related pathways are Homologous DNA Pairing and Strand Exchange and Regulation of TP53 Activity.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003677 | DNA binding | IEA | -- |
GO:0005515 | protein binding | IPI | 20711169 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005829 | cytosol | IBA,IDA | -- |
GO:0016607 | nuclear speck | IBA,IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | DNA Double-Strand Break Repair |
.53
|
|
2 | Homologous DNA Pairing and Strand Exchange | ||
3 | Regulation of TP53 Activity | ||
4 | Resolution of D-loop Structures through Holliday Junction Intermediates | ||
5 | Cell Cycle Checkpoints |
.84
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006260 | DNA replication | TAS | -- |
GO:0006281 | DNA repair | IBA | 21873635 |
GO:0033045 | regulation of sister chromatid segregation | IMP | 27977684 |
GO:0043007 | maintenance of rDNA | IBA | 21873635 |
GO:1901796 | regulation of signal transduction by p53 class mediator | TAS | -- |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | RMI2 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | RMI2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | RMI2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Rmi2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Rmi2 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | RMI2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | RMI2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | RMI2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | rmi2 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | LOC563218 30 |
|
||
RMI2 31 |
|
OneToOne |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv2728n100 | CNV | gain | 25217958 |
nsv1040428 | CNV | gain | 25217958 |
Disorder | Aliases | PubMed IDs |
---|---|---|
microcephaly, growth restriction, and increased sister chromatid exchange 2 |
|
|
malignant ovarian cyst |
|
|
bloom syndrome |
|
|
baller-gerold syndrome |
|
|
rapadilino syndrome |
|
|