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

Gene ID: 8487, updated on 10-Dec-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
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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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Spinal muscular atrophy
MedGen: C0026847 GeneReviews: Spinal Muscular Atrophy
Compare labs

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

General gene information

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in Gemini of coiled bodies PubMed 
part_of SMN complex  
part_of SMN complex PubMed 
part_of SMN complex PubMed 
part_of SMN-Sm protein complex PubMed 
located_in cytosol PubMed 
located_in cytosol  
located_in nuclear body  
located_in nucleolus  
located_in nucleoplasm  
located_in nucleoplasm  
is_active_in nucleus  
part_of spliceosomal complex  

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)

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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

    UniProtKB/TrEMBL
    H0YEL0
  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

    UniProtKB/TrEMBL
    H0YEL0
  2. XM_054376817.1XP_054232792.1  gem-associated protein 2 isoform X2

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