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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
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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
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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

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