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    THOC2 THO complex subunit 2 [ Homo sapiens (human) ]

    Gene ID: 57187, updated on 14-Nov-2024

    Summary

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    Official Symbol
    THOC2provided by HGNC
    Official Full Name
    THO complex subunit 2provided by HGNC
    Primary source
    HGNC:HGNC:19073
    See related
    Ensembl:ENSG00000125676 MIM:300395; AllianceGenome:HGNC:19073
    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
    AMC7; THO2; MRX12; MRX35; CXorf3; XLID12; hTREX120; dJ506G2.1
    Summary
    The TREX multiprotein complex binds specifically to spliced mRNAs to facilitate mRNA export. The protein encoded by this gene is a member of the THO complex, a subset of the TREX complex. The encoded protein interacts with the THOC1 protein.[provided by RefSeq, Jun 2010]
    Expression
    Ubiquitous expression in lymph node (RPKM 8.1), thyroid (RPKM 7.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See THOC2 in Genome Data Viewer
    Location:
    Xq25
    Exon count:
    41
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (123600569..123733052, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (121911026..122043503, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (122734420..122866902, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene cytochrome c oxidase subunit NDUFA4-like Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:122695822-122696322 Neighboring gene tubulin beta 4A class IVa pseudogene 1 Neighboring gene FER tyrosine kinase pseudogene 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:122781620-122782478 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:122782479-122783335 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chrX:122813879-122814524 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29909 Neighboring gene RNA, U7 small nuclear 69 pseudogene Neighboring gene MEMO1 pseudogene 4

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Localisation of a new gene for non-specific mental retardation to Xq22-q26 (MRX35). Gu XX, et al. J Med Genet, 1996 Jan. PMID 8825049, Free PMC Article
    2. Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery. Kumar R, et al. Hum Mutat, 2018 Aug. PMID 29851191, Free PMC Article
    3. Knockdown THOC2 suppresses the proliferation and invasion of melanoma. Zhou X, et al. Bioengineered, 2019 Dec. PMID 31680623, Free PMC Article
    4. THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability. Kumar R, et al. Am J Hum Genet, 2015 Aug 6. PMID 26166480, Free PMC Article
    5. Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene. Coffey AJ, et al. Nat Genet, 1998 Oct. PMID 9771704

    See all (115) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. THOC2 reduction repressed melanoma cell proliferation and invasion, and induced cell apoptosis.
      Title: Knockdown THOC2 suppresses the proliferation and invasion of melanoma.
    2. Study presents detailed clinical assessment and functional studies on a de novo variant in a female with an epileptic encephalopathy and discuss an additional four families with rare variants in THOC2 with supportive evidence for pathogenicity.
      Title: Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery.
    3. THOC2 mutations implicate mRNA-export pathway in X-linked intellectual disability.
      Title: THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability.
    4. recruitment of the human TREX complex to spliced mRNA is not directly coupled to transcription, but is instead coupled to transcription indirectly through splicing
      Title: Recruitment of the human TREX complex to mRNA during splicing.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    X-linked intellectual disability-short stature-overweight syndrome
    MedGen: C0796218 OMIM: 300957 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of THO complex 2 (THOC2) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Tandem affinity purification and mass spectrometry analysis identify THO complex 2 protein (THOC2), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Gag-Pol gag-pol Tandem affinity purification and mass spectrometry analysis identify THO complex 2 protein (THOC2), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Nef nef Tandem affinity purification and mass spectrometry analysis identify THO complex 2 protein (THOC2), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Pr55(Gag) gag Tandem affinity purification and mass spectrometry analysis identify THO complex 2 protein (THOC2), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables mRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in RNA splicing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in generation of neurons IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mRNA export from nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mRNA export from nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in mRNA processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in neuron development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in poly(A)+ mRNA export from nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of THO complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of THO complex part of transcription export complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of THO complex part of transcription export complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    colocalizes_with chromosome, telomeric region IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nuclear speck IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    part_of transcription export complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    THO complex subunit 2
    Names
    THO complex 2

    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_021468.2 RefSeqGene

      Range
      5000..137483
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001081550.2 → NP_001075019.1  THO complex subunit 2

      See identical proteins and their annotated locations for NP_001075019.1

      Status: REVIEWED

      Source sequence(s)
      AF441770, AW206982, BC054050, DA504931
      Consensus CDS
      CCDS43988.1
      UniProtKB/Swiss-Prot
      A6NM50, Q5JZ12, Q6IN92, Q8NI27, Q9H8I6
      UniProtKB/TrEMBL
      A0A0C4DG98
      Related
      ENSP00000245838.8, ENST00000245838.13
      Conserved Domains (5) summary
      PTZ00121
      Location:1291 → 1593
      PTZ00121; MAEBL; Provisional
      TIGR01642
      Location:1448 → 1556
      U2AF_lg; U2 snRNP auxilliary factor, large subunit, splicing factor
      pfam11262
      Location:874 → 1173
      Tho2; Transcription factor/nuclear export subunit protein 2
      pfam11732
      Location:568 → 642
      Thoc2; Transcription- and export-related complex subunit
      pfam16134
      Location:11 → 566
      THOC2_N; THO complex subunit 2 N-terminus

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      123600569..123733052 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047442276.1 → XP_047298232.1  THO complex subunit 2 isoform X10

      UniProtKB/Swiss-Prot
      A6NM50, Q5JZ12, Q6IN92, Q8NI27, Q9H8I6

    2. XM_047442270.1 → XP_047298226.1  THO complex subunit 2 isoform X5

    3. XM_047442273.1 → XP_047298229.1  THO complex subunit 2 isoform X7

    4. XM_047442267.1 → XP_047298223.1  THO complex subunit 2 isoform X3

    5. XM_017029679.2 → XP_016885168.1  THO complex subunit 2 isoform X8

      UniProtKB/TrEMBL
      A0A0C4DG98

    6. XM_047442274.1 → XP_047298230.1  THO complex subunit 2 isoform X8

    7. XM_047442268.1 → XP_047298224.1  THO complex subunit 2 isoform X4

    8. XM_047442269.1 → XP_047298225.1  THO complex subunit 2 isoform X4

    9. XM_047442271.1 → XP_047298227.1  THO complex subunit 2 isoform X6

    10. XM_047442272.1 → XP_047298228.1  THO complex subunit 2 isoform X6

    11. XM_047442265.1 → XP_047298221.1  THO complex subunit 2 isoform X2

    12. XM_047442266.1 → XP_047298222.1  THO complex subunit 2 isoform X2

    13. XM_047442263.1 → XP_047298219.1  THO complex subunit 2 isoform X1

    14. XM_047442264.1 → XP_047298220.1  THO complex subunit 2 isoform X1

    15. XM_047442278.1 → XP_047298234.1  THO complex subunit 2 isoform X12

    16. XM_047442277.1 → XP_047298233.1  THO complex subunit 2 isoform X11

    17. XM_047442275.1 → XP_047298231.1  THO complex subunit 2 isoform X9

    RNA

    1. XR_007068195.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      121911026..122043503 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327431.1 → XP_054183406.1  THO complex subunit 2 isoform X10

      UniProtKB/Swiss-Prot
      A6NM50, Q5JZ12, Q6IN92, Q8NI27, Q9H8I6

    2. XM_054327424.1 → XP_054183399.1  THO complex subunit 2 isoform X5

    3. XM_054327427.1 → XP_054183402.1  THO complex subunit 2 isoform X7

    4. XM_054327421.1 → XP_054183396.1  THO complex subunit 2 isoform X3

    5. XM_054327428.1 → XP_054183403.1  THO complex subunit 2 isoform X8

    6. XM_054327429.1 → XP_054183404.1  THO complex subunit 2 isoform X8

    7. XM_054327422.1 → XP_054183397.1  THO complex subunit 2 isoform X4

    8. XM_054327423.1 → XP_054183398.1  THO complex subunit 2 isoform X4

    9. XM_054327425.1 → XP_054183400.1  THO complex subunit 2 isoform X6

    10. XM_054327426.1 → XP_054183401.1  THO complex subunit 2 isoform X6

    11. XM_054327419.1 → XP_054183394.1  THO complex subunit 2 isoform X2

    12. XM_054327420.1 → XP_054183395.1  THO complex subunit 2 isoform X2

    13. XM_054327417.1 → XP_054183392.1  THO complex subunit 2 isoform X1

    14. XM_054327418.1 → XP_054183393.1  THO complex subunit 2 isoform X1

    15. XM_054327433.1 → XP_054183408.1  THO complex subunit 2 isoform X12

    16. XM_054327432.1 → XP_054183407.1  THO complex subunit 2 isoform X11

    17. XM_054327430.1 → XP_054183405.1  THO complex subunit 2 isoform X9

    RNA

    1. XR_008485497.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_020449.2: Suppressed sequence

      Description
      NM_020449.2: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NI27.2 GenPept UniProtKB/Swiss-Prot:Q8NI27

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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