RMI2 - RecQ mediated genome instability 2 Gene

Homo sapiens

Also known as BLAP18; C16orf75

Gene ID: 116028 | Gene type: protein coding

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

Protein Preferred Names

Protein Names

recQ-mediated genome instability protein 2

BLM-associated protein of 18 kDa

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12015	RMI2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

Name
Email *

	Sorry, but the email address you supplied was invalid.