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    GEMIN2 gem nuclear organelle associated protein 2 [ Homo sapiens (human) ]

    Gene ID: 8487, updated on 28-Oct-2024

    Summary

    Official Symbol
    GEMIN2provided by HGNC
    Official Full Name
    gem nuclear organelle associated protein 2provided by HGNC
    Primary source
    HGNC:HGNC:10884
    See related
    Ensembl:ENSG00000092208 MIM:602595; AllianceGenome:HGNC:10884
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SIP1; SIP1-delta
    Summary
    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]
    Expression
    Ubiquitous expression in testis (RPKM 5.8), lymph node (RPKM 4.5) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See GEMIN2 in Genome Data Viewer
    Location:
    14q21.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (39114323..39136973)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (33303000..33325655)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (39583527..39606177)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene SEC23 homolog A, COPII coat complex component Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5686 Neighboring gene SEC23A antisense RNA 1 Neighboring gene uncharacterized LOC105370459 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:39579989-39580506 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8285 Neighboring gene peptidylprolyl isomerase A pseudogene 4 Neighboring gene trafficking protein particle complex subunit 6B Neighboring gene ribosomal protein L7a pseudogene 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:39638995-39639584 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:39640175-39640764 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8287 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr14:39644148-39645347 Neighboring gene PNN antisense RNA 1 Neighboring gene pinin, desmosome associated protein

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    HIV-1 NL4-3 replication requires GEMIN2 as replication is inhibited when GEMIN2 is deleted through CRISPR/Cas9 genome editing PubMed
    Knockdown of gem (nuclear organelle) associated protein 2 (GEMIN2) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr HIV-1 Vpr is identified to have a physical interaction with gem (nuclear organelle) associated protein 2 (GEMIN2) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed
    integrase gag-pol Tetramer formation of HIV-1 Integrase (IN) and its interaction with Gemin2 synergistically stimulate reverse transcriptase (RT) activity PubMed
    gag-pol The residues between 71 to 80 within the central core domain of HIV-1 IN are important for the interaction with SIP1 PubMed
    gag-pol Survival motor neuron (SMN)-interacting protein 1 (Gemin2) binds to the C-terminal domain (amino acids 213-288) of HIV-1 Integrase and facilitates efficient viral cDNA synthesis soon after infection PubMed
    reverse transcriptase gag-pol Tetramer formation of HIV-1 Integrase (IN) and its interaction with Gemin2 synergistically stimulate reverse transcriptase (RT) activity PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Gemini of coiled bodies IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of SMN complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of SMN complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of SMN complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    part_of SMN-Sm protein complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of spliceosomal complex IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    gem-associated protein 2
    Names
    SMN interacting protein 1-delta
    component of gems 2
    gemin-2
    survival of motor neuron protein interacting protein 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_016643.1 RefSeqGene

      Range
      5040..27690
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001009182.2NP_001009182.2  gem-associated protein 2 isoform beta

      Status: REVIEWED

      Description
      Transcript Variant: This variant (beta) lacks an in-frame exon, compared to variant alpha. It encodes isoform beta which is shorter than isoform alpha.
      Source sequence(s)
      AL109628
      Consensus CDS
      CCDS32068.2
      UniProtKB/TrEMBL
      A0A3B3IU42, A0A8J9FJK1
      Related
      ENSP00000250379.9, ENST00000250379.13
      Conserved Domains (1) summary
      pfam04938
      Location:34247
      SIP1; Survival motor neuron (SMN) interacting protein 1 (SIP1)
    2. NM_001009183.2NP_001009183.2  gem-associated protein 2 isoform gamma

      Status: REVIEWED

      Description
      Transcript Variant: This variant (gamma) lacks an internal exon, compared to variant alpha. It encodes isoform gamma which is shorter and has a unique C-terminus, compared to isoform alpha.
      Source sequence(s)
      AL109628
      Consensus CDS
      CCDS41946.2
      UniProtKB/TrEMBL
      A0A8J9FN78, H0YEL0
      Related
      ENSP00000379548.3, ENST00000396249.7
      Conserved Domains (1) summary
      pfam04938
      Location:34234
      SIP1; Survival motor neuron (SMN) interacting protein 1 (SIP1)
    3. NM_003616.3NP_003607.2  gem-associated protein 2 isoform alpha

      Status: REVIEWED

      Description
      Transcript Variant: This variant (alpha) represents the longest transcript and encodes the longest isoform (alpha).
      Source sequence(s)
      AL109628
      Consensus CDS
      CCDS9669.2
      UniProtKB/TrEMBL
      A0A3B3IU42
      Related
      ENSP00000308533.7, ENST00000308317.12
      Conserved Domains (1) summary
      pfam04938
      Location:34262
      SIP1; Survival motor neuron (SMN) interacting protein 1 (SIP1)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      39114323..39136973
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017021709.2XP_016877198.2  gem-associated protein 2 isoform X1

    2. XM_047431807.1XP_047287763.1  gem-associated protein 2 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      33303000..33325655
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054376816.1XP_054232791.1  gem-associated protein 2 isoform X1

    2. XM_054376817.1XP_054232792.1  gem-associated protein 2 isoform X2