Homo sapiens Protein: GEMIN2
Summary
InnateDB Protein IDBP-5225.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GEMIN2
Protein Name gem (nuclear organelle) associated protein 2
Synonyms SIP1; SIP1-delta;
Species Homo sapiens
Ensembl Protein ENSP00000308533
InnateDB Gene IDBG-5223 (GEMIN2)
Protein Structure
UniProt Annotation
Function The SMN complex plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chaperone CLNS1A that controls the assembly of the core snRNP. Dissociation by the SMN complex of CLNS1A from the trapped Sm proteins and their transfer to an SMN-Sm complex triggers the assembly of core snRNPs and their transport to the nucleus. {ECO:0000269PubMed:18984161, ECO:0000269PubMed:9323129}.
Subcellular Localization Nucleus, gem. Cytoplasm. Note=Localized in subnuclear structures next to coiled bodies, called gems, which are highly enriched in spliceosomal snRNPs. Also found in the cytoplasm.
Disease Associations
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 35 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 35 [view]
Protein-Protein 32 [view]
Protein-DNA 3 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0000245 spliceosomal complex assembly
GO:0000375 RNA splicing, via transesterification reactions
GO:0000387 spliceosomal snRNP assembly
GO:0006397 mRNA processing
GO:0008380 RNA splicing
GO:0010467 gene expression
GO:0016070 RNA metabolic process
GO:0034660 ncRNA metabolic process
Cellular Component
GO:0005622 intracellular
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005681 spliceosomal complex
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0032797 SMN complex
GO:0034719 SMN-Sm protein complex
GO:0097504 Gemini of coiled bodies
Protein Structure and Domains
PDB ID
InterPro IPR017364 Gem-associated protein 2, metazoa
PFAM
PRINTS
PIRSF PIRSF038038
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt O14893
PhosphoSite PhosphoSite-O14893
TrEMBL
UniProt Splice Variant
Entrez Gene 8487
UniGene Hs.722259
RefSeq NP_003607
HUGO HGNC:10884
OMIM 602595
CCDS CCDS9669
HPRD 03999
IMGT
EMBL AB037701 AB037702 AB037703 AF027150 AJ250932 AJ250933 AJ250934 AJ250935 AJ250936 AJ250937 AJ250938 AJ250939 AK313947 BC104968
GenPept AAB82297 AAI04969 BAB03508 BAB03509 BAB03510 BAG36665 CAC16117