RMI2
entrez
116028
canonical
uniprot
Q96E14
canonical
ensembl
ENSG00000175643
resolver
ensp
ENSP00000310356
resolver
genesymbol
RMI2
resolver
genesymbol_syn
C16orf75
resolver
hgnc
HGNC:28349
resolver
uniprot
B3KVZ6
resolver
uniprot
Q49AE2
resolver
uniprot
Q8TBL0
resolver
uniprot_entry
RMI2_HUMAN
resolver
uniprot_sec
B3KVZ6
resolver
uniprot_sec
Q49AE2
resolver
uniprot_sec
Q8TBL0
resolver
amino_acid_sequence
MAAAADSFSGGPAGVRLPRSPPLKVLAEQLRRDAEGGPGAWRLSRAAAGRGPLDLAAVWMQGRVVMADRGEARLRDPSGDFSVRGLERVPRGRPCLVPGKYVMVMGVVQACSPEPCLQAVKMTDLSDNPIHESMWELEVEDLHRNIP
uniprot
proteins
disease_involvement
DISEASE: Note=A homozygous deletion of RMI2 has been found in a family with a Bloom-like syndrome and is probable responsible for the phenotype. Patients manifest depigmented skin lesions, multiple cafe-au-lait macules, and growth deficiency. Cells from affected individuals show a high rate of sister chromatid exchange and increased chromosomal breaks. {ECO:0000269|PubMed:27977684}.
uniprot
proteins
function
FUNCTION: Essential component of the RMI complex, a complex that plays an important role in the processing of homologous recombination intermediates. It is required to regulate sister chromatid segregation and to limit DNA crossover. Essential for the stability, localization, and function of BLM, TOP3A, and complexes containing BLM. In the RMI complex, it is required to target BLM to chromatin and stress-induced nuclear foci and mitotic phosphorylation of BLM. {ECO:0000269|PubMed:18923082, ECO:0000269|PubMed:18923083, ECO:0000269|PubMed:27977684}.
uniprot
proteins
mass_dalton
15865
uniprot
proteins
mutagenesis
MUTAGEN 24; /note="K->A: Abolishes interaction with RMI1, TOP3A and BLM."; /evidence="ECO:0000269|PubMed:18923083"; MUTAGEN 59; /note="W->A: According to PubMed:18923083, abolishes interaction with RMI1, TOP3A and BLM. According to PubMed:18923082, does not affect interaction with RMI1 and TOP3A."; /evidence="ECO:0000269|PubMed:18923083"; MUTAGEN 100; /note="K->A: Does not affect interaction with RMI1, TOP3A and BLM."; /evidence="ECO:0000269|PubMed:18923083"; MUTAGEN 121; /note="K->A: According to PubMed:18923083, does not affect interaction with RMI1, TOP3A and BLM. According to PubMed:18923082, affects interaction with BLM and the BMI complex."; /evidence="ECO:0000269|PubMed:18923082, ECO:0000269|PubMed:18923083"; MUTAGEN 135; /note="W->A: Abolishes interaction with RMI1, TOP3A and BLM."; /evidence="ECO:0000269|PubMed:18923083
uniprot
proteins
post_translational_modification
PTM: Phosphorylated during mitosis. {ECO:0000269|PubMed:18923083}.
uniprot
proteins
protein_family
RMI2 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
18923082
uniprot
proteins
pubmed
18923083
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
27977684
uniprot
proteins
sequence_length
147
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:18923082}. Note=Colocalizes with BLM at nuclear DNA repair foci.
uniprot
proteins