GEMIN2 - gem nuclear organelle associated protein 2 Gene

Also Known as SIP1; SIP1-delta

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8487

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	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	10500148	GOA

Biological Process GO Annotation	Evidence	References	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	References	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

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 Set	/	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
Others	GEMIN2	NCBI