GEMIN2 - gem nuclear organelle associated protein 2 Gene

Homo sapiens

Also known as SIP1; SIP1-delta

Gene ID: 8487 | Gene type: protein coding

About 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.

Summary

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 Products(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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	10500148	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in negative regulation of RNA binding	IDA IDA: Inferred from direct assay	21816274	GOA
involved in spliceosomal snRNP assembly	EXP EXP: Inferred from Experiment	12067652	GOA
involved in spliceosomal snRNP assembly	IDA IDA: Inferred from direct assay	18984161	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in Gemini of coiled bodies	IDA IDA: Inferred from direct assay	20513430	GOA
part of SMN complex	IDA IDA: Inferred from direct assay	17178713	GOA
part of SMN complex	IPI IPI: Inferred from physical interaction	17178713	GOA
part of SMN-Sm protein complex	IDA IDA: Inferred from direct assay	18984161	GOA
located in cytosol	IDA IDA: Inferred from direct assay	18984161	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

GEMIN2 Protein Structure

SIP1

0
100
200
280 a.a.

Protein Preferred Names

Protein Names

gem-associated protein 2

SMN interacting protein 1-delta

GEMIN2 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	GEMIN2	O14893	BEND7	Homo sapiens	Q8N7W2-2	Validated Y2H	32296183
Intra	GEMIN2	O14893	BEND7	Homo sapiens	Q8N7W2-2	Y2H Array	32296183
Intra	GEMIN2	O14893	BEND7	Homo sapiens	Q8N7W2-2	Y2H Prey Pooling	32296183
Intra	GEMIN2	O14893	HOXD10	Homo sapiens	P28358	Validated Y2H	32296183
Intra	GEMIN2	O14893	HOXD10	Homo sapiens	P28358	Y2H Array	32296183
Intra	GEMIN2	O14893	HOXD10	Homo sapiens	P28358	Y2H Prey Pooling	32296183
Intra	GEMIN2	O14893	MEOX1	Homo sapiens	P50221	Y2H Prey Pooling	32296183
Intra	GEMIN2	O14893	MEOX1	Homo sapiens	P50221	Validated Y2H	32296183
Intra	GEMIN2	O14893	MEOX1	Homo sapiens	P50221	Y2H Array	32296183
Intra	GEMIN2	O14893	SNRPF	Homo sapiens	P62306	X-Ray Diffraction	21816274
Intra	GEMIN2	O14893	SNRPF	Homo sapiens	P62306	Pull Down	21816274
Intra	GEMIN2	O14893	SNRPF	Homo sapiens	P62306	MAPPIT	32296183
Intra	GEMIN2	O14893	SNRPF	Homo sapiens	P62306	Y2H Array	32296183
Intra	GEMIN2	O14893	SNRPF	Homo sapiens	P62306	GMS	18984161
Intra	GEMIN2	O14893	SNRPF	Homo sapiens	P62306	Y2H Prey Pooling	32296183
Intra	GEMIN2	O14893	SNRPF	Homo sapiens	P62306	Validated Y2H	32296183
Intra	GEMIN2	O14893	KPNA6	Homo sapiens	O60684	Y2H Prey Pooling	32296183
Intra	GEMIN2	O14893	KPNA6	Homo sapiens	O60684	Validated Y2H	32296183
Intra	GEMIN2	O14893	KPNA6	Homo sapiens	O60684	Y2H Array	32296183
Intra	GEMIN2	O14893	RPP14	Homo sapiens	O95059	Validated Y2H	32296183
Intra	GEMIN2	O14893	RPP14	Homo sapiens	O95059	Y2H Prey Pooling	32296183
Intra	GEMIN2	O14893	RPP14	Homo sapiens	O95059	Y2H Array	32296183
Intra	GEMIN2	O14893	PSMB1	Homo sapiens	P20618	Validated Y2H	32296183
Intra	GEMIN2	O14893	SMN1	Homo sapiens	Q16637	X-Ray Diffraction	21816274
Intra	GEMIN2	O14893	SMN1	Homo sapiens	Q16637	GMS	18984161
Intra	GEMIN2	O14893	SMN1	Homo sapiens	Q16637	Y2H Prey Pooling	32296183
Intra	GEMIN2	O14893	SMN1	Homo sapiens	Q16637	Pull Down	21816274
Intra	GEMIN2	O14893	SMN1	Homo sapiens	Q16637	Validated Y2H	32296183
Intra	GEMIN2	O14893	SMN1	Homo sapiens	Q16637	Y2H Array	32296183
Intra	GEMIN2	O14893	SMN1	Homo sapiens	Q16637	Filter Binding	9323129
Intra	GEMIN2	O14893	SMN1	Homo sapiens	Q16637	Pull Down	9323129
Intra	GEMIN2	O14893	SMN1	Homo sapiens	Q16637	Y2H	9323129
Intra	GEMIN2	O14893	INCA1	Homo sapiens	Q0VD86	Validated Y2H	32296183
Intra	GEMIN2	O14893	INCA1	Homo sapiens	Q0VD86	Y2H Array	32296183
Intra	GEMIN2	O14893	INCA1	Homo sapiens	Q0VD86	Y2H Prey Pooling	32296183
Intra	GEMIN2	O14893	SPG21	Homo sapiens	Q9NZD8	Validated Y2H	32296183
Intra	GEMIN2	O14893	PAX6	Homo sapiens	P26367	Y2H Array	32296183
Intra	GEMIN2	O14893	PAX6	Homo sapiens	P26367	Y2H Prey Pooling	32296183
Intra	GEMIN2	O14893	PAX6	Homo sapiens	P26367	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

GEMIN2 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83161	Gemin 2 Antibody (YA2906)	WB, IP	Human, Mouse, Rat

Related Diseases

Diseases

Alias

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

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

Orthologs Information

Species	Symbol	Source	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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