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Aliases for GEMIN2 Gene

Aliases for GEMIN2 Gene

  • Gem (Nuclear Organelle) Associated Protein 2 2 3
  • SIP1 3 4 6
  • Survival Of Motor Neuron Protein Interacting Protein 1 2 3
  • Component Of Gems 2 3 4
  • Gemin-2 3 4
  • Survival Of Motor Neuron Protein-Interacting Protein 1 4
  • SMN Interacting Protein 1-Delta 3
  • SMN-Interacting Protein 1 4
  • Gem-Associated Protein 2 3
  • SIP1-Delta 3

External Ids for GEMIN2 Gene

Previous HGNC Symbols for GEMIN2 Gene

  • SIP1

Previous GeneCards Identifiers for GEMIN2 Gene

  • GC14P039584

Summaries for GEMIN2 Gene

Entrez Gene Summary for GEMIN2 Gene

  • 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]

GeneCards Summary for GEMIN2 Gene

GEMIN2 (Gem (Nuclear Organelle) Associated Protein 2) is a Protein Coding gene. Diseases associated with GEMIN2 include mowat-wilson syndrome. Among its related pathways are Gene Expression and RNA transport.

UniProtKB/Swiss-Prot for GEMIN2 Gene

  • 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.

Gene Wiki entry for GEMIN2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GEMIN2 Gene

Genomics for GEMIN2 Gene

Genomic Location for GEMIN2 Gene

Start:
39,114,223 bp from pter
End:
39,136,973 bp from pter
Size:
22,751 bases
Orientation:
Plus strand

Genomic View for GEMIN2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GEMIN2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GEMIN2 Gene

No data available for Regulatory Elements for GEMIN2 Gene

Proteins for GEMIN2 Gene

  • Protein details for GEMIN2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14893-GEMI2_HUMAN
    Recommended name:
    Gem-associated protein 2
    Protein Accession:
    O14893
    Secondary Accessions:
    • B2R9W8
    • Q2M3B3
    • Q9H4F5
    • Q9NS77
    • Q9NS78
    • Q9NS79

    Protein attributes for GEMIN2 Gene

    Size:
    280 amino acids
    Molecular mass:
    31585 Da
    Quaternary structure:
    • Part of the core SMN complex that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8 and STRAP/UNRIP. Part of the SMN-Sm complex that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8, STRAP/UNRIP and the Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG. Interacts directly with GEMIN5.
    SequenceCaution:
    • Sequence=CAC16117.2; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for GEMIN2 Gene

    Alternative splice isoforms for GEMIN2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GEMIN2 Gene

Proteomics data for GEMIN2 Gene at MOPED

Post-translational modifications for GEMIN2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for GEMIN2 Gene

Domains for GEMIN2 Gene

Protein Domains for GEMIN2 Gene

Graphical View of Domain Structure for InterPro Entry

O14893

UniProtKB/Swiss-Prot:

GEMI2_HUMAN :
  • O14893
Family:
  • Belongs to the gemin-2 family.
genes like me logo Genes that share domains with GEMIN2: view

No data available for Gene Families and Suggested Antigen Peptide Sequences for GEMIN2 Gene

Function for GEMIN2 Gene

Molecular function for GEMIN2 Gene

UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for GEMIN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11714716
genes like me logo Genes that share ontologies with GEMIN2: view

Phenotypes for GEMIN2 Gene

MGI mutant phenotypes for GEMIN2:
inferred from 1 alleles
GenomeRNAi human phenotypes for GEMIN2:
genes like me logo Genes that share phenotypes with GEMIN2: view

Animal Model Products

miRNA for GEMIN2 Gene

miRTarBase miRNAs that target GEMIN2

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GEMIN2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for GEMIN2 Gene

Localization for GEMIN2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GEMIN2 Gene

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.

Gene Ontology (GO) - Cellular Components for GEMIN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular --
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm TAS --
GO:0005681 spliceosomal complex IEA --
GO:0005730 nucleolus IDA --
genes like me logo Genes that share ontologies with GEMIN2: view

No data available for Subcellular locations from COMPARTMENTS for GEMIN2 Gene

Pathways for GEMIN2 Gene

genes like me logo Genes that share pathways with GEMIN2: view

Pathways by source for GEMIN2 Gene

3 Reactome pathways for GEMIN2 Gene
1 KEGG pathway for GEMIN2 Gene

Gene Ontology (GO) - Biological Process for GEMIN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000245 spliceosomal complex assembly IEA --
GO:0000375 RNA splicing, via transesterification reactions TAS 9323129
GO:0000387 spliceosomal snRNP assembly TAS --
GO:0006397 mRNA processing TAS 9323130
GO:0008380 RNA splicing TAS 9323129
genes like me logo Genes that share ontologies with GEMIN2: view

Compounds for GEMIN2 Gene

(2) Novoseek inferred chemical compound relationships for GEMIN2 Gene

Compound -log(P) Hits PubMed IDs
zinc 30 3
gtp 19.5 1
genes like me logo Genes that share compounds with GEMIN2: view

Transcripts for GEMIN2 Gene

Unigene Clusters for GEMIN2 Gene

Gem (nuclear organelle) associated protein 2:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GEMIN2

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GEMIN2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b · 11c
SP1: -
SP2: - -
SP3: - -
SP4: - - -
SP5:

Relevant External Links for GEMIN2 Gene

GeneLoc Exon Structure for
GEMIN2
ECgene alternative splicing isoforms for
GEMIN2

Expression for GEMIN2 Gene

mRNA expression in normal human tissues for GEMIN2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for GEMIN2 Gene

This gene is overexpressed in Bone (48.4), Breast (8.6), and Testis (6.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for GEMIN2 Gene

SOURCE GeneReport for Unigene cluster for GEMIN2 Gene Hs.652307

genes like me logo Genes that share expressions with GEMIN2: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Expression partners for GEMIN2 Gene

Orthologs for GEMIN2 Gene

This gene was present in the common ancestor of animals.

Orthologs for GEMIN2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GEMIN2 35
  • 92.26 (n)
  • 93.93 (a)
GEMIN2 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GEMIN2 35
  • 92.57 (n)
  • 95.91 (a)
GEMIN2 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gemin2 35
  • 89.34 (n)
  • 94.42 (a)
Gemin2 16
Gemin2 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SIP1 35
  • 100 (n)
  • 100 (a)
SIP1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gemin2 35
  • 89.96 (n)
  • 94.05 (a)
oppossum
(Monodelphis domestica)
Mammalia GEMIN2 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 82 (a)
OneToMany
-- 36
  • 83 (a)
OneToMany
chicken
(Gallus gallus)
Aves GEMIN2 35
  • 75.57 (n)
  • 79.77 (a)
GEMIN2 36
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GEMIN2 36
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gemin2 35
  • 71.15 (n)
  • 79.23 (a)
Str.3557 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.3305 35
zebrafish
(Danio rerio)
Actinopterygii gemin2 35
  • 68.12 (n)
  • 69.44 (a)
wufc52a05 35
gemin2 36
  • 68 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1671 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005413 35
  • 42.76 (n)
  • 34.6 (a)
fruit fly
(Drosophila melanogaster)
Insecta Gem2 35
  • 42.9 (n)
  • 33.63 (a)
Gem2 36
  • 30 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea smi-1 36
  • 25 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 33 (a)
OneToOne
Species with no ortholog for GEMIN2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GEMIN2 Gene

ENSEMBL:
Gene Tree for GEMIN2 (if available)
TreeFam:
Gene Tree for GEMIN2 (if available)

Paralogs for GEMIN2 Gene

Pseudogenes.org Pseudogenes for GEMIN2 Gene

genes like me logo Genes that share paralogs with GEMIN2: view

No data available for Paralogs for GEMIN2 Gene

Variants for GEMIN2 Gene

Sequence variations from dbSNP and Humsavar for GEMIN2 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type MAF
rs2277458 -- 39,114,277(-) AGGCG(C/T)ACTAA upstream-variant-2KB
rs2415531 -- 39,112,839(+) aggcc(A/G)ggcgc upstream-variant-2KB
rs2415532 -- 39,113,091(+) tccag(A/C)ctggg upstream-variant-2KB
rs2415533 -- 39,113,491(+) AATAA(C/G)TCAAT upstream-variant-2KB
rs3759545 -- 39,113,684(-) TTCGT(G/T)TAAAT upstream-variant-2KB

Relevant External Links for GEMIN2 Gene

HapMap Linkage Disequilibrium report
GEMIN2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for GEMIN2 Gene

Disorders for GEMIN2 Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for GEMIN2 Gene in MalaCards »

(1) Diseases for GEMIN2 Gene including...

(2) Novoseek inferred disease relationships for GEMIN2 Gene

Disease -log(P) Hits PubMed IDs
muscular atrophy spinal 91.3 2
breast cancer 0 2
genes like me logo Genes that share disorders with GEMIN2: view

No data available for OMIM , UniProtKB/Swiss-Prot , University of Copenhagen DISEASES , Genatlas and External Links for GEMIN2 Gene

Publications for GEMIN2 Gene

  1. The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins. (PMID: 9323129) Liu Q. … Dreyfuss G. (Cell 1997) 2 3 4 23
  2. The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis. (PMID: 9323130) Fischer U. … Dreyfuss G. (Cell 1997) 2 3 23
  3. An essential SMN interacting protein (SIP1) is not involved in the phenotypic variability of spinal muscular atrophy (SMA). (PMID: 10909848) Helmken C. … Wirth B. (Eur. J. Hum. Genet. 2000) 3 4 23
  4. A cell system with targeted disruption of the SMN gene: functional conservation of the SMN protein and dependence of Gemin2 on SMN. (PMID: 11121410) Wang J. … Dreyfuss G. (J. Biol. Chem. 2001) 2 3 23
  5. Increased expression level of the splicing variant of SIP1 in motor neuron diseases. (PMID: 11943600) Aerbajinai W. … Tsukahara T. (Int. J. Biochem. Cell Biol. 2002) 3 4 23

Products for GEMIN2 Gene

Sources for GEMIN2 Gene

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