Gemin2 gem nuclear organelle associated protein 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Gemin2provided by MGI
Official Full Name: gem nuclear organelle associated protein 2provided by MGI
Primary source: MGI:MGI:1913853
See related: Ensembl:ENSMUSG00000060121 AllianceGenome:MGI:1913853
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Sip1; gemin-2
Summary: This gene encodes one of the proteins found in the survival of motor neuron (SMN) complex, which consists of the SMN protein and several gemin proteins. The SMN complex is localized to a subnuclear compartment called gems (gemini of coiled bodies) and is required for assembly of spliceosomal small nuclear ribonucleoproteins (snRNP) and for pre-mRNA splicing. This protein interacts directly with the SMN protein and it is required for formation of the SMN complex. Disruption of this gene in mouse resulted in impaired snRNP assembly, and motor neuron degeneration. [provided by RefSeq, Sep 2015]
Expression: Ubiquitous expression in CNS E11.5 (RPKM 6.8), liver E14 (RPKM 6.3) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 12 C1; 12 25.99 cM

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	12	NC_000078.7 (59060177..59075256)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	12	NC_000078.6 (59013391..59028470)

Chromosome 12 - NC_000078.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

utilised a targeted screen to identify mRNA associated with SMN, Gemin2 and Gemin3 in the cytoplasm of a human neuroblastoma cell line, SHSY5Y
Title: SMN, Gemin2 and Gemin3 associate with beta-actin mRNA in the cytoplasm of neuronal cells in vitro.
Gene targeting in mice reveals a correlation between defects in the biogenesis of U snRNPs and motoneuron cell death (gemin2; SMN interacting protein 1)
Title: Gene targeting of Gemin2 in mice reveals a correlation between defects in the biogenesis of U snRNPs and motoneuron cell death.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Sip1 (e-PCR), detects polymorphism
- UniSTS:479271

Gene Ontology Provided by MGI

Process	Evidence Code	Pubs
involved_in negative regulation of RNA binding	ISO Inferred from Sequence Orthology more info
involved_in spliceosomal complex assembly	IEA Inferred from Electronic Annotation more info
involved_in spliceosomal snRNP assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in spliceosomal snRNP assembly	ISO Inferred from Sequence Orthology more info
involved_in spliceosomal snRNP assembly	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in Gemini of coiled bodies	ISO Inferred from Sequence Orthology more info
located_in Gemini of coiled bodies	ISS Inferred from Sequence or Structural Similarity more info
part_of SMN complex	IBA Inferred from Biological aspect of Ancestor more info
part_of SMN complex	ISO Inferred from Sequence Orthology more info
part_of SMN complex	ISS Inferred from Sequence or Structural Similarity more info
part_of SMN-Sm protein complex	ISO Inferred from Sequence Orthology more info
part_of SMN-Sm protein complex	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISS Inferred from Sequence or Structural Similarity more info
located_in intracellular anatomical structure	IDA Inferred from Direct Assay more info
located_in nuclear body	ISO Inferred from Sequence Orthology more info
located_in nucleolus	IEA Inferred from Electronic Annotation more info
located_in nucleolus	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of spliceosomal complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: gem-associated protein 2

Names: SMN-interacting protein 1; component of gems 2; survival of motor neuron protein-interacting protein 1; survivor of motor neuron protein interacting protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.