GEMIN2 - gem nuclear organelle associated protein 2 Gene

中文名称：宝石核细胞器相关蛋白 2

种属: Homo sapiens

同用名: SIP1; SIP1-delta

基因 ID: 8487 | 基因类型: protein coding

关于 GEMIN2

Cytogenetic location: 14q21.1 Genomic coordinates (GRCh38): 14:39,114,323-39,136,973 (from NCBI)

This gene has 13 transcripts (splice variants) and 210 orthologues. Ubiquitous expression in testis (RPKM 5.8), lymph node (RPKM 4.5) and 25 other tissues.

功能概要

该基因编码在 SMN 复合体中发现的一种蛋白质，该复合体由几种 gemin 蛋白和称为运动神经元存活蛋白的蛋白质组成。 SMN 复合体定位于称为 gems (盘绕体的双子座) 的亚核区室，并且是拼接体 snRNP 的组装和 pre-mRNA 剪接所必需的。该蛋白与运动神经元蛋白的存活直接相互作用，是 SMN 复合体形成所必需的。针对该基因的小鼠同系物的敲除小鼠表现出破坏的 snRNP 组装和运动神经元变性。[RefSeq 提供，2011 年 8 月]

This gene encodes one of the proteins found in the SMN complex, which consists of several gemin proteins and the protein known as the survival of motor neuron protein. The SMN complex is localized to a subnuclear compartment called gems (gemini of coiled bodies) and is required for assembly of spliceosomal snRNPs and for pre-mRNA splicing. This protein interacts directly with the survival of motor neuron protein and it is required for formation of the SMN complex. A knockout mouse targeting the mouse homolog of this gene exhibited disrupted snRNP assembly and motor neuron degeneration. [provided by RefSeq, Aug 2011]

GEMIN2 基因产物(3)

mRNA	Protein	Name
NM_001009182.2	NP_001009182.2	gem-associated protein 2 isoform beta
NM_001009183.2	NP_001009183.2	gem-associated protein 2 isoform gamma
NM_003616.3	NP_003607.2	gem-associated protein 2 isoform alpha

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	10500148	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in negative regulation of RNA binding	IDA IDA: 通过直接分析推断	21816274	GOA
involved in spliceosomal snRNP assembly	EXP EXP: 通过实验结果推断	12067652	GOA
involved in spliceosomal snRNP assembly	IDA IDA: 通过直接分析推断	18984161	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in Gemini of coiled bodies	IDA IDA: 通过直接分析推断	20513430	GOA
part of SMN complex	IDA IDA: 通过直接分析推断	17178713	GOA
part of SMN complex	IPI IPI: 通过物理相互作用推断	17178713	GOA
part of SMN-Sm protein complex	IDA IDA: 通过直接分析推断	18984161	GOA
located in cytosol	IDA IDA: 通过直接分析推断	18984161	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

GEMIN2 蛋白结构

SIP1

0
100
200
280 a.a.

蛋白主名

其他名称

gem-associated protein 2

SMN interacting protein 1-delta

GEMIN2 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	GEMIN2	O14893	BEND7	Homo sapiens	Q8N7W2-2	Validated Y2H	32296183
种属内	GEMIN2	O14893	BEND7	Homo sapiens	Q8N7W2-2	Y2H Array	32296183
种属内	GEMIN2	O14893	BEND7	Homo sapiens	Q8N7W2-2	Y2H Prey Pooling	32296183
种属内	GEMIN2	O14893	HOXD10	Homo sapiens	P28358	Validated Y2H	32296183
种属内	GEMIN2	O14893	HOXD10	Homo sapiens	P28358	Y2H Array	32296183
种属内	GEMIN2	O14893	HOXD10	Homo sapiens	P28358	Y2H Prey Pooling	32296183
种属内	GEMIN2	O14893	MEOX1	Homo sapiens	P50221	Y2H Prey Pooling	32296183
种属内	GEMIN2	O14893	MEOX1	Homo sapiens	P50221	Validated Y2H	32296183
种属内	GEMIN2	O14893	MEOX1	Homo sapiens	P50221	Y2H Array	32296183
种属内	GEMIN2	O14893	SNRPF	Homo sapiens	P62306	X-Ray Diffraction	21816274
种属内	GEMIN2	O14893	SNRPF	Homo sapiens	P62306	Pull Down	21816274
种属内	GEMIN2	O14893	SNRPF	Homo sapiens	P62306	MAPPIT	32296183
种属内	GEMIN2	O14893	SNRPF	Homo sapiens	P62306	Y2H Array	32296183
种属内	GEMIN2	O14893	SNRPF	Homo sapiens	P62306	GMS	18984161
种属内	GEMIN2	O14893	SNRPF	Homo sapiens	P62306	Y2H Prey Pooling	32296183
种属内	GEMIN2	O14893	SNRPF	Homo sapiens	P62306	Validated Y2H	32296183
种属内	GEMIN2	O14893	KPNA6	Homo sapiens	O60684	Y2H Prey Pooling	32296183
种属内	GEMIN2	O14893	KPNA6	Homo sapiens	O60684	Validated Y2H	32296183
种属内	GEMIN2	O14893	KPNA6	Homo sapiens	O60684	Y2H Array	32296183
种属内	GEMIN2	O14893	RPP14	Homo sapiens	O95059	Validated Y2H	32296183
种属内	GEMIN2	O14893	RPP14	Homo sapiens	O95059	Y2H Prey Pooling	32296183
种属内	GEMIN2	O14893	RPP14	Homo sapiens	O95059	Y2H Array	32296183
种属内	GEMIN2	O14893	PSMB1	Homo sapiens	P20618	Validated Y2H	32296183
种属内	GEMIN2	O14893	SMN1	Homo sapiens	Q16637	X-Ray Diffraction	21816274
种属内	GEMIN2	O14893	SMN1	Homo sapiens	Q16637	GMS	18984161
种属内	GEMIN2	O14893	SMN1	Homo sapiens	Q16637	Y2H Prey Pooling	32296183
种属内	GEMIN2	O14893	SMN1	Homo sapiens	Q16637	Pull Down	21816274
种属内	GEMIN2	O14893	SMN1	Homo sapiens	Q16637	Validated Y2H	32296183
种属内	GEMIN2	O14893	SMN1	Homo sapiens	Q16637	Y2H Array	32296183
种属内	GEMIN2	O14893	SMN1	Homo sapiens	Q16637	Filter Binding	9323129
种属内	GEMIN2	O14893	SMN1	Homo sapiens	Q16637	Pull Down	9323129
种属内	GEMIN2	O14893	SMN1	Homo sapiens	Q16637	Y2H	9323129
种属内	GEMIN2	O14893	INCA1	Homo sapiens	Q0VD86	Validated Y2H	32296183
种属内	GEMIN2	O14893	INCA1	Homo sapiens	Q0VD86	Y2H Array	32296183
种属内	GEMIN2	O14893	INCA1	Homo sapiens	Q0VD86	Y2H Prey Pooling	32296183
种属内	GEMIN2	O14893	SPG21	Homo sapiens	Q9NZD8	Validated Y2H	32296183
种属内	GEMIN2	O14893	PAX6	Homo sapiens	P26367	Y2H Array	32296183
种属内	GEMIN2	O14893	PAX6	Homo sapiens	P26367	Y2H Prey Pooling	32296183
种属内	GEMIN2	O14893	PAX6	Homo sapiens	P26367	Validated Y2H	32296183

种属间: 跨种属相互作用 种属内: 同种属相互作用

GEMIN2 抗体

目录号	产品名	应用	反应物种
HY-P83161	Gemin 2 Antibody (YA2906)	WB, IP	Human, Mouse, Rat

关联疾病

疾病名称

别名

Spinal Muscular Atrophy

Sma	5q Sma
Proximal Sma	Sma-Associated Sma
Spinal Amyotrophies	Spinal Amyotrophy
Spinal Muscle Degeneration	Spinal Muscle Wasting
Muscular Atrophy Spinal	Atrophy, Muscular, Spinal
Hereditary Motor Neuronopathy	Progressive Muscular Atrophy
Sma - [Spinal Muscular Atrophy]

Muscular Atrophy

Muscle Wasting	Amyotrophia
Wasting - Muscle	Skeletal Muscle Atrophy

Childhood Spinal Muscular Atrophy

Spinal Muscular Atrophies Of Childhood

Survival Motor Neuron Spinal Muscular Atrophy

Spinal Muscular Atrophy, Type Iii

SMA3	Juvenile Spinal Muscular Atrophy
Kugelberg-Welander Disease	Sma Iii
Kugelberg-Welander Syndrome	Kws
Muscular Atrophy, Juvenile	Spinal Muscular Atrophy, Mild Childhood And Adolescent Form
Spinal Muscular Atrophy-3	Spinal Muscular Atrophy Type 3
Spinal Muscular Atrophy, Type Iii, Modifier Of	Type Iii Spinal Muscular Atrophy
Sma 3	Proximal Spinal Muscular Atrophy Type 3
Sma Type 3	Sma Type Iii
Sma-Iii	Spinal Muscular Atrophy 3
Spinal Muscular Atrophy Mild Childhood And Adolescent Form	Spinal Muscular Atrophy Type Iii
Wohlfart-Kugelberg-Welander Disease	Atrophy, Muscular, Spinal, Type Iii

Spinal Muscular Atrophy, Type I

Werdnig-Hoffmann Disease	SMA1
Spinal Muscular Atrophy 1	Sma I
Sma, Infantile Acute Form	Muscular Atrophy, Infantile
Spinal Muscular Atrophy-1	Hmn Proximal Type I
Infantile Muscular Atrophy	Proximal Spinal Muscular Atrophy Type 1
Sma Type 1	Sma Type I
Sma-I	Hereditary Motor Neuropathy Proximal Type I
Progressive Muscular Atrophy Of Infancy	Proximal Spinal Muscular Atrophy, Type 1
Werdnig Hoffmann Disease	Infantile Spinal Muscular Atrophy
Infantile-Onset Spinal Muscular Atrophy	Proximal Hereditary Motor Neuropathy Type I
Sma Infantile Acute Form	Spinal Muscular Atrophy Type I
Werdnig-Hoffman Disease	Atrophy, Muscular, Spinal, Type 1

Dubowitz Syndrome

Dubowitz'S Syndrome	Dwarfism-Eczema-Peculiar Facies Syndrome
Intrauterine Growth Restriction, Short Stature, Microcephaly, Mild Intellectual Disability With Behavior Problems, Eczema, And Unusual And Distinctive Faci

Spinal Muscular Atrophy, Type Ii

SMA2	Sma Ii
Muscular Atrophy, Spinal, Intermediate Type	Muscular Atrophy, Spinal, Infantile Chronic Form
Intermediate Spinal Muscular Atrophy	Spinal Muscular Atrophy Type Ii
Spinal Muscular Atrophy-2	Spinal Muscular Atrophy 2
Spinal Muscular Atrophy Type 2	Dubowitz Disease
Proximal Spinal Muscular Atrophy Type 2	Sma Type 2
Sma Type Ii	Sma-Ii
Spinal Muscular Atrophy Infantile Chronic Form	Spinal Muscular Atrophy Intermediate Type
Spinal Muscular Atrophies Of Childhood	Atrophy, Muscular, Spinal, Type Ii
Muscular Atrophy, Spinal, Type Ii

Neuromuscular Disease

Neuromuscular Diseases	Neuromuscular Disorders
Neuromuscular Disorder

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-RS05367	GEMIN2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Canis familiaris	GEMIN2	VGNC	VGNC:41173
Rattus norvegicus	GEMIN2	RGD	RGD:620842
Mus musculus	GEMIN2	MGD	MGI:1913853
Felis catus	GEMIN2	VGNC	VGNC:62513
Macaca mulatta	GEMIN2	VGNC	VGNC:72713
Bos taurus	GEMIN2	VGNC	VGNC:29316

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