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GEMIN2 Gene

protein-coding   GIFtS: 53
GCID: GC14P039584

Gem (Nuclear Organelle) Associated Protein 2

(Previous name: survival of motor neuron protein interacting protein 1)
(Previous symbol: SIP1)
  See GEMIN2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Gem (Nuclear Organelle) Associated Protein 21 2     gemin-22
SIP11 2 3 5     SMN Interacting Protein 1-Delta2
Survival Of Motor Neuron Protein Interacting Protein 11 2     Gemin-23
Component Of Gems 22 3     SMN-Interacting Protein 13
SIP1-delta2     Survival Of Motor Neuron Protein-Interacting Protein 13
Gem-Associated Protein 22     

External Ids:    HGNC: 108841   Entrez Gene: 84872   Ensembl: ENSG000000922087   OMIM: 6025955   UniProtKB: O148933   

Export aliases for GEMIN2 gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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, and benign hereditary chorea.

UniProtKB/Swiss-Prot: GEMI2_HUMAN, O14893
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 Wiki entry for GEMIN2 (Survival of motor neuron protein-interacting protein 1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000014.8  NC_018925.2  NT_026437.13  
Regulatory elements:
   Search for regulatory transcription factor binding sites for GEMIN2
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGEMIN2 promoter sequence
   Search Chromatin IP Primers for GEMIN2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GEMIN2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q13   Ensembl cytogenetic band:  14q21.1   HGNC cytogenetic band: 14q21.1

GEMIN2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GEMIN2 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P039584:  view genomic region     (about GC identifiers)

Start:
39,583,427 bp from pter      End:
39,606,177 bp from pter
Size:
22,751 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: GEMI2_HUMAN, O14893 (See protein sequence)
Recommended Name: Gem-associated protein 2  
Size: 280 amino acids; 31585 Da
Subunit: 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
Caution: It is uncertain whether Met-1 or Met-12 is the initiator
Sequence caution: Sequence=CAC16117.2; Type=Erroneous initiation; Note=Translation N-terminally extended;
2 PDB 3D structures from and Proteopedia for GEMIN2:
2LEH (3D)        3S6N (3D)    
Secondary accessions: B2R9W8 Q2M3B3 Q9H4F5 Q9NS77 Q9NS78 Q9NS79
Alternative splicing: 4 isoforms:  O14893-1   O14893-2   O14893-3   O14893-4   

Explore the universe of human proteins at neXtProt for GEMIN2: NX_O14893

Explore proteomics data for GEMIN2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See GEMIN2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001009182.1  NP_001009183.1  NP_003607.1  

    ENSEMBL proteins: 
     ENSP00000308533   ENSP00000436854   ENSP00000379548   ENSP00000416827   ENSP00000250379  
     ENSP00000431500   ENSP00000436065   ENSP00000434048   ENSP00000474979  
    Reactome Protein details: O14893

    GEMIN2 Human Recombinant Protein Products:

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    Search eBioscience for ELISAs for GEMIN2 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR007022 GEMIN2
     IPR017364 GEMIN2_metazoa

    Graphical View of Domain Structure for InterPro Entry O14893

    ProtoNet protein and cluster: O14893

    1 Blocks protein domain: IPB007022 Survival motor neuron interacting protein 1

    UniProtKB/Swiss-Prot: GEMI2_HUMAN, O14893
    Similarity: Belongs to the gemin-2 family


    Find genes that share domains with GEMIN2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GEMI2_HUMAN, O14893
    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): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI11714716
         
    Find genes that share ontologies with GEMIN2           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for GEMIN2:
     Decreased p24 protein expressi 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Gemin2):
     mortality/aging  nervous system 

    Find genes that share phenotypes with GEMIN2           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GEMIN2
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    GEMI2_HUMAN, O14893: 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): Selected cellular component terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005681spliceosomal complex IEA--
    GO:0005730nucleolus IDA--

    Find genes that share ontologies with GEMIN2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for GEMIN2 About    
    See pathways by source

    SuperPathContained pathways About
    1Regulation of Glucokinase by Glucokinase Regulatory Protein
    Metabolism of non-coding RNA0.54
    snRNP Assembly0.54
    2Gene Expression
    Gene Expression0.40
    3RNA transport
    RNA transport


    Find genes that share SuperPaths with GEMIN2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for GEMIN2
        snRNP Assembly


    1 Kegg Pathway  (Kegg details for GEMIN2):
        RNA transport

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GEMIN2
    Interactions:

        Search GeneGlobe Interaction Network for GEMIN2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for GEMIN2 (O148931, 2, 3 ENSP000003085334) via UniProtKB, MINT, STRING, and/or I2D (see all 157)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMN1Q166371, 2, 3, ENSP000003700834EBI-443648,EBI-395421 MINT-16652 MINT-16651 MINT-16653 MINT-8271520 MINT-16654 I2D: score=5 STRING: ENSP00000370083
    SMN2Q166371, 2, 3, ENSP000003701194EBI-443648,EBI-395421 MINT-16652 MINT-16651 MINT-16653 MINT-8271520 MINT-16654 I2D: score=5 STRING: ENSP00000370119
    DHX9Q082112, 3, ENSP000003565204MINT-6488791 I2D: score=3 STRING: ENSP00000356520
    SNRPD2P623163, ENSP000003423744I2D: score=3 STRING: ENSP00000342374
    LGALS1P093823, ENSP000002159094I2D: score=2 STRING: ENSP00000215909
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000245spliceosomal complex assembly IEA--
    GO:0000375RNA splicing, via transesterification reactions TAS9323129
    GO:0000387spliceosomal snRNP assembly TAS--
    GO:0006397mRNA processing TAS9323130
    GO:0008380RNA splicing TAS9323129

    Find genes that share ontologies with GEMIN2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for GEMIN2 (GEMI2)

    2 Novoseek inferred chemical compound relationships for GEMIN2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    zinc 30 3 20428734 (1), 12714599 (1), 17958891 (1)
    gtp 19.5 1 10631144 (1)



    Find genes that share compounds with GEMIN2           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for GEMIN2 gene (3 alternative transcripts): 
    NM_001009182.1  NM_001009183.1  NM_003616.2  

    Unigene Cluster for GEMIN2:

    Gem (nuclear organelle) associated protein 2
    Hs.652307  [show with all ESTs]
    Unigene Representative Sequence: BC028095
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000308317(uc001wuq.3 uc001wur.3 uc001wus.3) ENST00000525153(uc010amx.3)
    ENST00000396249 ENST00000412033 ENST00000250379 ENST00000531684 ENST00000534684
    ENST00000525430 ENST00000527381 ENST00000524980 ENST00000529365 ENST00000524781

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    Additional mRNA sequence: 

    AB037701.1 AB037702.1 AB037703.1 AF027150.1 AK313947.1 BC028095.1 BC104968.1 

    12 DOTS entries:

    DT.444658  DT.95242746  DT.97838356  DT.100741084  DT.95370316  DT.100741085  DT.92425855  DT.95370317 
    DT.100739022  DT.120757517  DT.75137735  DT.75115595 

    Selected AceView cDNA sequences (see all 75):

    AA828244 AF027150 BX109093 AA252493 BQ277743 AW403560 AA314485 CA436038 
    BC028095 BP357198 BE043922 BM987457 AI052503 CN484054 AB037702 BM680163 
    AB037703 AB037701 AA261912 NM_003616 BE888768 AA455655 AI539159 AI309049 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for GEMIN2    About this scheme

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


    ECgene alternative splicing isoforms for GEMIN2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    GEMIN2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGGCAGCCT
    GEMIN2 Expression
    About this image


    GEMIN2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 2 entries
             Cranial Neural Crest Cells Branchial Arch 1
     
     Head Mesenchyme (Muscoskeletal System)    fully expand to see all 2 entries
             Cranial Neural Crest Cells Branchial Arch 1
    GEMIN2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GEMIN2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.652307
        Custom PCR Arrays for GEMIN2
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GEMIN2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for GEMIN2 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gemin21 , 5 survival of motor neuron protein interacting protein more5
    gem (nuclear organelle) associated protein 21
    89.34(n)1
    94.42(a)1
      12 (25.99 cM)5
    666031  NM_025656.41  NP_079932.21 
     590133935 
    chicken
    (Gallus gallus)
    Aves GEMIN21 gem (nuclear organelle) associated protein 2 75.57(n)
    79.77(a)
      423336  NM_001039302.1  NP_001034391.1 
    lizard
    (Anolis carolinensis)
    Reptilia GEMIN26
    gem (nuclear organelle) associated protein 2
    81(a)
    1 ↔ 1
    1(23975346-23987490)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.33052 Xenopus laevis survival of motor neuron protein interacting more 76.26(n)    AF027151.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufc52a052 Transcribed sequence with weak similarity to protein more 76.93(n)    57050797 
    fruit fly
    (Drosophila melanogaster)
    Insecta Gem21 Gemin2 42.9(n)
    33.63(a)
      40087  NM_140835.4  NP_649092.1 
    worm
    (Caenorhabditis elegans)
    Secernentea smi-16
    Protein SMI-1, isoform a
    25(a)
    1 ↔ 1
    III(1878365-1880839) WBGene00004886


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GEMIN2 gene

    Find genes that share paralogs with GEMIN2           About GenesLikeMe


    2 Pseudogenes.org Pseudogenes for GEMIN2
    PGOHUM00000244273 PGOHUM00000238007


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GEMIN2 (see all 624)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1120351391,2
    C,F--20578693(+) TGCAAC/TGGCAC 3 -- us2k12Minor allele frequency- T:0.33CSA 3
    rs1871513631,2
    --20578704(+) AATCTC/GGGCTC 3 -- us2k10--------
    rs1157368421,2
    F--20578938(+) GGCCAA/GGATTC 3 -- us2k11Minor allele frequency- G:0.03WA 118
    rs101406561,2
    C--20579025(+) ggggtA/Caaata 3 -- us2k1 tfbs34Minor allele frequency- C:0.00NA WA CSA 7
    rs1920650541,2
    --20579145(+) GGGCAA/TGACTC 3 -- us2k10--------
    rs24155311,2
    C,A,H--20579198(+) aggccA/Gggcgc 3 -- us2k14Minor allele frequency- G:0.07NA WA CSA 125
    rs24155321,2
    C,A,H--20579450(+) tccagC/Actggg 3 -- us2k17Minor allele frequency- A:0.07NA WA 14
    rs1422592551,2
    --20579516(+) CACGTC/GACTAC 3 -- us2k10--------
    rs1478786161,2
    --20579672(+) GTGTCC/TCAATT 3 -- us2k10--------
    rs24155331,2
    C,F,O,A,H--20579850(+) AATAAG/CTCAAT 3 -- us2k113Minor allele frequency- C:0.28NS EA NA WA 880

    HapMap Linkage Disequilibrium report for GEMIN2 (39583427 - 39606177 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for GEMIN2: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GEMIN2
    DNA2.0 Custom Variant and Variant Library Synthesis for GEMIN2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602595    OMIM disorders: --

    2 diseases for GEMIN2:    
    About MalaCards
    mowat-wilson syndrome    benign hereditary chorea


    Find genes that share disorders with GEMIN2           About GenesLikeMe

    2 Novoseek inferred disease relationships for GEMIN2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    muscular atrophy spinal 91.3 2 10909848 (1), 11092763 (1)
    breast cancer 0 2 16314317 (1), 16568083 (1)


    Export disorders for GEMIN2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for GEMIN2 gene, integrated from 10 sources (see all 88):
    (articles sorted by number of sources associating them with GEMIN2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins. (PubMed id 9323129)1, 2, 3, 9 Liu Q.... Dreyfuss G. (Cell 1997)
    2. An essential SMN interacting protein (SIP1) is not involved in the phenotypic variability of spinal muscular atrophy (SMA). (PubMed id 10909848)1, 2, 9 Helmken C....Wirth B. (Eur. J. Hum. Genet. 2000)
    3. Increased expression level of the splicing variant of SIP1 in motor neuron diseases. (PubMed id 11943600)1, 2, 9 Aerbajinai W.... Tsukahara T. (Int. J. Biochem. Cell Biol. 2002)
    4. A cell system with targeted disruption of the SMN gene: functional conservation of the SMN protein and dependence of Gemin2 on SMN. (PubMed id 11121410)1, 3, 9 Wang J. and Dreyfuss G. (J. Biol. Chem. 2001)
    5. The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis. (PubMed id 9323130)1, 3, 9 Fischer U....Dreyfuss G. (Cell 1997)
    6. An assembly chaperone collaborates with the SMN complex to generate spliceosomal SnRNPs. (PubMed id 18984161)1, 2 Chari A....Fischer U. (Cell 2008)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Gemin5, a novel WD repeat protein component of the SMN complex that binds Sm proteins. (PubMed id 11714716)1, 2 Gubitz A.K....Dreyfuss G. (J. Biol. Chem. 2002)
    9. Identification of the role of Smad interacting protein 1 (SIP1) in glioma. (PubMed id 19806322)1, 9 Xia M....Su L. (J. Neurooncol. 2010)
    10. Gemin2 plays an important role in stabilizing the survival of motor neuron complex. (PubMed id 17308308)1, 9 Ogawa C....Suzuki H. (J. Biol. Chem. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 8487 HGNC: 10884 AceView: SIP1 Ensembl:ENSG00000092208 euGenes: HUgn8487
    ECgene: GEMIN2 Kegg: 8487 H-InvDB: GEMIN2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for GEMIN2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GEMIN2 gene:
    Search GeneIP for patents involving GEMIN2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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