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

Gene ID: 8487, updated on 13-Feb-2019

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
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

Genomic context

See GEMIN2 in Genome Data Viewer
Location:
14q21.1
Exon count:
10
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 14 NC_000014.9 (39114261..39136973)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (39583488..39606177)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene Sec23 homolog A, coat complex II component Neighboring gene SEC23A antisense RNA 1 Neighboring gene uncharacterized LOC105370459 Neighboring gene peptidylprolyl isomerase A pseudogene 4 Neighboring gene trafficking protein particle complex 6B Neighboring gene ribosomal protein L7a pseudogene 2 Neighboring gene pinin, desmosome associated protein

Genomic regions, transcripts, and products

Expression

  • Project title: 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 FunctionsWhat'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 BioSystems

  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • Metabolism of non-coding RNA, organism-specific biosystem (from REACTOME)
    Metabolism of non-coding RNA, organism-specific biosystemThe term non-coding is commonly employed for RNA that does not encode a protein, but this does not mean that such RNAs do not contain information nor have function. There is considerable evidence tha...
  • RNA transport, organism-specific biosystem (from KEGG)
    RNA transport, organism-specific biosystemRNA transport from the nucleus to the cytoplasm is fundamental for gene expression. The different RNA species that are produced in the nucleus are exported through the nuclear pore complexes (NPCs) ...
  • RNA transport, conserved biosystem (from KEGG)
    RNA transport, conserved biosystemRNA transport from the nucleus to the cytoplasm is fundamental for gene expression. The different RNA species that are produced in the nucleus are exported through the nuclear pore complexes (NPCs) ...
  • Survival motor neuron (SMN) complex, organism-specific biosystem (from KEGG)
    Survival motor neuron (SMN) complex, organism-specific biosystemStructural complex; Genetic information processing; RNA processing
  • Survival motor neuron (SMN) complex, conserved biosystem (from KEGG)
    Survival motor neuron (SMN) complex, conserved biosystemStructural complex; Genetic information processing; RNA processing
  • snRNP Assembly, organism-specific biosystem (from REACTOME)
    snRNP Assembly, organism-specific biosystemSmall nuclear ribonucleoproteins (snRNPs) are crucial for pre-mRNA processing to mRNAs. Each snRNP contains a small nuclear RNA (snRNA) and an extremely stable core of seven Sm proteins. The U6 snRNA...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
RNA splicing TAS
Traceable Author Statement
more info
PubMed 
RNA splicing, via transesterification reactions TAS
Traceable Author Statement
more info
PubMed 
import into nucleus TAS
Traceable Author Statement
more info
 
mRNA processing TAS
Traceable Author Statement
more info
PubMed 
spliceosomal complex assembly IEA
Inferred from Electronic Annotation
more info
 
spliceosomal snRNP assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
spliceosomal snRNP assembly IDA
Inferred from Direct Assay
more info
PubMed 
spliceosomal snRNP assembly TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
Gemini of coiled bodies IDA
Inferred from Direct Assay
more info
PubMed 
SMN complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
SMN complex IDA
Inferred from Direct Assay
more info
PubMed 
SMN-Sm protein complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
nuclear body IDA
Inferred from Direct Assay
more info
 
nucleolus IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
 
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)

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
    5001..27690
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for NP_001009182.1

    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)
    AB037701, BC028095, CN484054
    Consensus CDS
    CCDS32068.1
    UniProtKB/Swiss-Prot
    O14893
    Related
    ENSP00000250379.8, ENST00000250379.12
    Conserved Domains (1) summary
    pfam04938
    Location:34257
    SIP1; Survival motor neuron (SMN) interacting protein 1 (SIP1)
  2. NM_001009183.1NP_001009183.1  gem-associated protein 2 isoform gamma

    See identical proteins and their annotated locations for NP_001009183.1

    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)
    AB037702, BC028095, CN484054
    Consensus CDS
    CCDS41946.1
    UniProtKB/Swiss-Prot
    O14893
    Related
    ENSP00000379548.2, ENST00000396249.6
    Conserved Domains (1) summary
    pfam04938
    Location:34245
    SIP1; Survival motor neuron (SMN) interacting protein 1 (SIP1)
  3. NM_003616.2NP_003607.1  gem-associated protein 2 isoform alpha

    See identical proteins and their annotated locations for NP_003607.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (alpha) represents the longest transcript and encodes the longest isoform (alpha).
    Source sequence(s)
    AF027150, BC028095
    Consensus CDS
    CCDS9669.1
    UniProtKB/Swiss-Prot
    O14893
    Related
    ENSP00000308533.6, ENST00000308317.10
    Conserved Domains (1) summary
    pfam04938
    Location:34272
    SIP1; Survival motor neuron (SMN) interacting protein 1 (SIP1)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p12 Primary Assembly

    Range
    39114261..39136973
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

  2. XM_024449731.1XP_024305499.1  gem-associated protein 2 isoform X2

    Conserved Domains (1) summary
    pfam04938
    Location:47138
    SIP1; Survival motor neuron (SMN) interacting protein 1 (SIP1)
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