RMI2 - RecQ mediated genome instability 2 Gene

Also Known as BLAP18; C16orf75

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 116028

About RMI2

Cytogenetic location: 16p13.13 Genomic coordinates (GRCh38): 16:11,345,459-11,351,760 (from NCBI)

This gene has 7 transcripts (splice variants), 181 orthologues and is associated with 82 phenotypes. Broad expression in lymph node (RPKM 13.6), placenta (RPKM 10.2) and 20 other tissues.

Summary

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 Products (1)

mRNA Protein Name
NM_152308.3 NP_689521.1 recQ-mediated genome instability protein 2

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Verweise Source
enables protein binding IPI
IPI: Inferred from physical interaction
20711169 GOA
Biological Process GO Annotation Evidence Verweise Source
involved in double-strand break repair via homologous recombination IDA
IDA: Inferred from direct assay
23543748 GOA
involved in regulation of sister chromatid segregation IMP
IMP: Inferred from mutant phenotype
27977684 GOA
involved in resolution of DNA recombination intermediates IDA
IDA: Inferred from direct assay
23543748 GOA
Cellular Component GO Annotation Evidence Verweise Source
part of RecQ family helicase-topoisomerase III complex IPI
IPI: Inferred from physical interaction
24984776 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

recQ-mediated genome instability protein 2

  • BLM-associated protein of 18 kDa

RMI2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Verweise
Intra
RMI2 Q96E14 RMI1 Homo sapiens Q9H9A7
Anti Tag CoIP
33961781
Intra
RMI2 Q96E14 RMI1 Homo sapiens Q9H9A7
Anti Tag CoIP
28514442
Intra
RMI2 Q96E14 RMI1 Homo sapiens Q9H9A7
Lumier
29997244
Intra
RMI2 Q96E14 RMI1 Homo sapiens Q9H9A7
BRET
29997244
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2

  • MGRISCE2

  • Intrauterine Growth Restriction-Congenital Multiple Cafe-Au-Lait Macules-Increased Sister Chromatid Exchange Syndrome
Bloom Syndrome

  • BLM

  • Bs

  • Bls

  • Bloom-Torre-Machacek Syndrome

  • Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 1

  • Mgrisce1

  • Congenital Telangiectatic Erythema

  • Congenital Telangiectatic Erythema Syndrome

  • Growth Deficiency, Sun-Sensitive, Telangiectatic, Hypo And Hyperpigmented Skin, Predisposition To Malignancy And Chromosomal Instability

  • Bloom'S Syndrome

  • Bsyn
Malignant Ovarian Cyst
Ovarian Mucinous Cystadenocarcinoma

  • Mucinous Cystadenocarcinoma Of Ovary
Rapadilino Syndrome

  • Absent Thumbs, Dislocated Joints, Long Face With Narrow Palpebral Fissures, Long Slender Nose, Arched Palate

  • Radial And Patellar Aplasia

  • Radial And Patellar Hypoplasia

  • RAPADILINOS
Rothmund-Thomson Syndrome, Type 2

  • Rothmund-Thomson Syndrome

  • Rts

  • RTS2

  • Poikiloderma Of Rothmund-Thomson

  • Rothmund-Thomson Syndrome Type 2

  • Congenital Poikiloderma

  • Poikiloderma Congenitale

  • Poikiloderma Atrophicans And Cataract

  • Poikiloderma Congenitale Of Rothmund-Thomson

  • Poikiloderma Of Rothmund-Thomson Type 2

  • Rothmund-Thomson Syndrome 2

  • Erythrokeratodermia Variabilis
Baller-Gerold Syndrome

  • BGS

  • Craniosynostosis With Radial Defects

  • Craniosynostosis-Radial Aplasia Syndrome

  • Craniosynostosis Radial Aplasia Syndrome
Aplastic Anemia

  • Aplastic Anemia, Susceptibility To

  • Anemia Aplastic

  • Idiopathic Aplastic Anemia

  • Secondary Aplastic Anemia

  • Idiopathic Bone Marrow Failure

  • Aplastic Anemia Idiopathic

  • AA

  • Anemia, Aplastic

  • Aplastic Anemia, Idiopathic

  • Erythroid Aplasia

  • Aa - [Aplastic Anaemia]

  • Haematopoietic Aplasia

  • Aleukia Haemorrhagica

  • Anaemia Due To Decreased Red Cell Production

  • Aplasia Bone Marrow

  • Aplastic Bone Marrow

  • Hypoplastic Anaemia Nos

  • Myeloid Bone Marrow Aplasia

  • Pancytopenia

  • Panhaematopenia

  • Hypoproliferative Anaemia

  • Medullary Hypoplasia

  • Red Blood Cells Hypoplastic Anaemia

  • Panmyelophthisis

  • Panhemocytopenia

  • Refractive Hypoproliferative Anaemia

  • Toxic Anaemia

  • Toxic Aplastic Anaemia

  • Aplastic Anaemia Due To Toxic Cause

  • Idiopathic Aplastic Anaemia Nos
Fanconi Anemia, Complementation Group A

  • Fanconi Anemia

  • Fanconi Pancytopenia

  • Fanconi Anemia Complementation Group A

  • FANCA

  • Fa

  • Fanconi Panmyelopathy

  • Fanconi'S Anemia

  • Fanconi Anaemia

  • Fanconi'S Anaemia

  • Fanconi Hypoplastic Anemia

  • Estren-Dameshek Variant Of Fanconi Anemia

  • Estren-Dameshek Variant Of Fanconi Pancytopenia

  • Fanconi Anemia Estren-Dameshek Variant

  • Fanconis Anemia
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Art. -Nr. Produktname
Wirkung
Reinheit
Rare Diseases
HY-RS12015 RMI2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS18496 Rmi2 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS24978 Rmi2 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta RMI2 VGNC VGNC:104748
Felis catus RMI2 VGNC VGNC:107814
Bos taurus RMI2 VGNC VGNC:33994
Canis familiaris RMI2 VGNC VGNC:45609
Mus musculus RMI2 MGD MGI:2685383
Rattus norvegicus RMI2 RGD RGD:1563163
Others RMI2 NCBI