RMI2 - RecQ mediated genome instability 2 Gene

中文名称：RecQ 介导的基因组不稳定性 2

种属: Homo sapiens

同用名: BLAP18; C16orf75

基因 ID: 116028 | 基因类型: protein coding

关于 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.

功能概要

RMI2 是 BLM (RECQL3; MIM 604610) 复合体的一个组成部分，它在同源重组依赖性 DNA 修复中发挥作用，对基因组稳定性至关重要 (Xu 等人，2008 [PubMed 18923082]) 。[OMIM 提供， 2008 年 11 月]

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 基因产物(1)

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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	20711169	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in double-strand break repair via homologous recombination	IDA IDA: 通过直接分析推断	23543748	GOA
involved in regulation of sister chromatid segregation	IMP IMP: 通过突变表型推断	27977684	GOA
involved in resolution of DNA recombination intermediates	IDA IDA: 通过直接分析推断	23543748	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of RecQ family helicase-topoisomerase III complex	IPI IPI: 通过物理相互作用推断	24984776	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

蛋白主名

其他名称

recQ-mediated genome instability protein 2

BLM-associated protein of 18 kDa

RMI2 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	RMI2	Q96E14	RMI1	Homo sapiens	Q9H9A7	Anti Tag CoIP	33961781
种属内	RMI2	Q96E14	RMI1	Homo sapiens	Q9H9A7	Anti Tag CoIP	28514442
种属内	RMI2	Q96E14	RMI1	Homo sapiens	Q9H9A7	Lumier	29997244
种属内	RMI2	Q96E14	RMI1	Homo sapiens	Q9H9A7	BRET	29997244

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS12015	RMI2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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

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站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

RMI2 - RecQ mediated genome instability 2 Gene

关于 RMI2

功能概要

RMI2 基因产物(1)

RMI2 蛋白互作信息

关联疾病

直系同源

热门区域

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RMI2 - RecQ mediated genome instability 2 Gene

关于 RMI2

功能概要

RMI2 基因产物(1)

RMI2 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z