GEMIN2
entrez
8487
canonical
uniprot
O14893
canonical
ensembl
ENSG00000092208
resolver
ensp
ENSP00000250379
resolver
ensp
ENSP00000308533
resolver
ensp
ENSP00000379548
resolver
ensp
ENSP00000646549
resolver
enst
ENST00000250379
resolver
enst
ENST00000396249
resolver
genesymbol
GEMIN2
resolver
genesymbol_syn
SIP1
resolver
hgnc
HGNC:10884
resolver
uniprot
A0A8J9FJK1
resolver
uniprot
A0A8J9FN78
resolver
uniprot
B2R9W8
resolver
uniprot
Q2M3B3
resolver
uniprot
Q9H4F5
resolver
uniprot
Q9NS77
resolver
uniprot
Q9NS78
resolver
uniprot
Q9NS79
resolver
uniprot_entry
A0A8J9FJK1_HUMAN
resolver
uniprot_entry
A0A8J9FN78_HUMAN
resolver
uniprot_entry
GEMI2_HUMAN
resolver
uniprot_sec
B2R9W8
resolver
uniprot_sec
Q2M3B3
resolver
uniprot_sec
Q9H4F5
resolver
uniprot_sec
Q9NS77
resolver
uniprot_sec
Q9NS78
resolver
uniprot_sec
Q9NS79
resolver
amino_acid_sequence
MRRAELAGLKTMAWVPAESAVEELMPRLLPVEPCDLTEGFDPSVPPRTPQEYLRRVQIEAAQCPDVVVAQIDPKKLKRKQSVNISLSGCQPAPEGYSPTLQWQQQQVAQFSTVRQNVNKHRSHWKSQQLDSNVTMPKSEDEEGWKKFCLGEKLCADGAVGPATNESPGIDYVQIGFPPLLSIVSRMNQATVTSVLEYLSNWFGERDFTPELGRWLYALLACLEKPLLPEAHSLIRQLARRCSEVRLLVDSKDDERVPALNLLICLVSRYFDQRDLADEPS
uniprot
proteins
function
FUNCTION: The SMN complex catalyzes the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome, and thereby plays an important role in the splicing of cellular pre-mRNAs (PubMed:18984161, PubMed:9323129). 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 (Sm core) (PubMed:18984161). In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG (5Sm) are trapped in an inactive 6S pICln-Sm complex by the chaperone CLNS1A that controls the assembly of the core snRNP (PubMed:18984161). To assemble core snRNPs, the SMN complex accepts the trapped 5Sm proteins from CLNS1A (PubMed:18984161, PubMed:9323129). Binding of snRNA inside 5Sm ultimately triggers eviction of the SMN complex, thereby allowing binding of SNRPD3 and SNRPB to complete assembly of the core snRNP (PubMed:31799625). Within the SMN complex, GEMIN2 constrains the conformation of 5Sm, thereby promoting 5Sm binding to snRNA containing the snRNP code (a nonameric Sm site and a 3'-adjacent stem-loop), thus preventing progression of assembly until a cognate substrate is bound (PubMed:16314521, PubMed:21816274, PubMed:31799625). {ECO:0000269|PubMed:16314521, ECO:0000269|PubMed:18984161, ECO:0000269|PubMed:21816274, ECO:0000269|PubMed:31799625, ECO:0000269|PubMed:9323129}.
uniprot
proteins
mass_dalton
31585
uniprot
proteins
mutagenesis
MUTAGEN 52; /note="Y->D: Impairs binding to Sm complex proteins."; /evidence="ECO:0000269|PubMed:21816274"; MUTAGEN 213; /note="R->D: Impairs binding to SMN1."; /evidence="ECO:0000269|PubMed:21816274
uniprot
proteins
protein_family
Gemin-2 family
uniprot
proteins
pubmed
10500148
uniprot
proteins
pubmed
10909848
uniprot
proteins
pubmed
11714716
uniprot
proteins
pubmed
11943600
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16314521
uniprot
proteins
pubmed
17178713
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
18984161
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21816274
uniprot
proteins
pubmed
22607171
uniprot
proteins
pubmed
23022347
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
26092730
uniprot
proteins
pubmed
31799625
uniprot
proteins
pubmed
9323129
uniprot
proteins
sequence_length
280
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: 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.
uniprot
proteins