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Aliases for THOC2 Gene

Aliases for THOC2 Gene

  • THO Complex 2 2 3 5
  • Mental Retardation, X-Linked 12 2 3
  • Mental Retardation, X-Linked 35 2 3
  • HTREX120 3 4
  • CXorf3 3 4
  • THO2 3 4
  • Chromosome X Open Reading Frame 3 2
  • THO Complex Subunit 2 3
  • DJ506G2.1 3
  • MRX12 3
  • MRX35 3

External Ids for THOC2 Gene

Previous HGNC Symbols for THOC2 Gene

  • CXorf3
  • MRX12
  • MRX35

Previous GeneCards Identifiers for THOC2 Gene

  • GC0XM119627
  • GC0XM120686
  • GC0XM121432
  • GC0XM122461
  • GC0XM122571
  • GC0XM122734
  • GC0XM112121

Summaries for THOC2 Gene

Entrez Gene Summary for THOC2 Gene

  • 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]

GeneCards Summary for THOC2 Gene

THOC2 (THO Complex 2) is a Protein Coding gene. Diseases associated with THOC2 include Mental Retardation, X-Linked 12/35 and Peliosis Hepatis. Among its related pathways are Formation of HIV elongation complex in the absence of HIV Tat and RNA Polymerase II Transcription Termination. GO annotations related to this gene include RNA binding.

UniProtKB/Swiss-Prot for THOC2 Gene

  • Required for efficient export of polyadenylated RNA and spliced mRNA. Acts as component of the THO subcomplex of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and which specifically associates with spliced mRNA and not with unspliced pre-mRNA. TREX is recruited to spliced mRNAs by a transcription-independent mechanism, binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region near the 5 end of the mRNA where it functions in mRNA export to the cytoplasm via the TAP/NFX1 pathway. The TREX complex is essential for the export of Kaposis sarcoma-associated herpesvirus (KSHV) intronless mRNAs and infectious virus production. THOC2 (and probably the THO complex) is involved in releasing mRNA from nuclear speckle domains. Required for NXF1 localization to the nuclear rim. Plays a role for proper neuronal development.

Gene Wiki entry for THOC2 Gene

Additional gene information for THOC2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for THOC2 Gene

Genomics for THOC2 Gene

Regulatory Elements for THOC2 Gene

Enhancers for THOC2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XH123779 1.2 ENCODE dbSUPER 123.2 -48.1 -48062 4 PKNOX1 FOXA2 ZFP64 DMAP1 FOS ZNF202 ZC3H11A REST PPARG ZNF623 THOC2 FERP1 LOC101928402 ENSG00000199705 XIAP XIAP-AS1 RNU6-122P LOC100422369 CHCHD2P1 RNU7-69P
GH0XH123731 1.1 ENCODE 25.9 +0.7 698 2 ARID4B SIN3A YY1 ZNF143 SP3 SP5 ZHX2 MXD4 REST ZNF592 THOC2 GC0XP123711
GH0XH123958 1.4 ENCODE dbSUPER 19.3 -228.8 -228844 7 PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF766 THOC2 XIAP LOC101928402 GC0XP123988 GC0XP123987
GH0XH123777 1.3 Ensembl ENCODE dbSUPER 13.6 -44.8 -44773 1 CTCF ZNF384 ZIC2 ZNF2 ZBTB40 RAD21 ZNF664 ZBTB48 ZSCAN5C SMC3 THOC2 RNU7-69P CHCHD2P1
GH0XH123764 1.4 FANTOM5 ENCODE dbSUPER 11.2 -32.1 -32074 1 TBP PKNOX1 ATF1 SIN3A ZBTB40 RAD21 YY1 ELK1 IKZF2 CREM THOC2 XIAP MEMO1P4
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around THOC2 on UCSC Golden Path with GeneCards custom track

Promoters for THOC2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000248540 556 2200 ARID4B SIN3A YY1 ZNF143 SP3 SP5 ZHX2 MXD4 REST ZNF592

Genomic Location for THOC2 Gene

Chromosome:
X
Start:
123,600,561 bp from pter
End:
123,733,056 bp from pter
Size:
132,496 bases
Orientation:
Minus strand

Genomic View for THOC2 Gene

Genes around THOC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
THOC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for THOC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for THOC2 Gene

Proteins for THOC2 Gene

  • Protein details for THOC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NI27-THOC2_HUMAN
    Recommended name:
    THO complex subunit 2
    Protein Accession:
    Q8NI27
    Secondary Accessions:
    • A6NM50
    • Q5JZ12
    • Q6IN92
    • Q9H8I6

    Protein attributes for THOC2 Gene

    Size:
    1593 amino acids
    Molecular mass:
    182775 Da
    Quaternary structure:
    • Component of the THO complex, which is composed of THOC1, THOC2, THOC3, THOC5, THOC6 and THOC7; together with at least ALYREF/THOC4, DDX39B, SARNP/CIP29 and CHTOP, THO forms the transcription/export (TREX) complex which seems to have a dynamic structure involving ATP-dependent remodeling. Interacts with THOC1, POLDIP3 and ZC3H11A.
    SequenceCaution:
    • Sequence=AAM28436.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence={ECO:0000305}; Sequence=BAB14630.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for THOC2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for THOC2 Gene

Post-translational modifications for THOC2 Gene

  • Ubiquitination at posLast=345345, Lys730, and Lys1084
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for THOC2 Gene

Domains & Families for THOC2 Gene

Gene Families for THOC2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for THOC2 Gene

Suggested Antigen Peptide Sequences for THOC2 Gene

Graphical View of Domain Structure for InterPro Entry

Q8NI27

UniProtKB/Swiss-Prot:

THOC2_HUMAN :
  • Belongs to the THOC2 family.
Family:
  • Belongs to the THOC2 family.
genes like me logo Genes that share domains with THOC2: view

Function for THOC2 Gene

Molecular function for THOC2 Gene

UniProtKB/Swiss-Prot Function:
Required for efficient export of polyadenylated RNA and spliced mRNA. Acts as component of the THO subcomplex of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and which specifically associates with spliced mRNA and not with unspliced pre-mRNA. TREX is recruited to spliced mRNAs by a transcription-independent mechanism, binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region near the 5 end of the mRNA where it functions in mRNA export to the cytoplasm via the TAP/NFX1 pathway. The TREX complex is essential for the export of Kaposis sarcoma-associated herpesvirus (KSHV) intronless mRNAs and infectious virus production. THOC2 (and probably the THO complex) is involved in releasing mRNA from nuclear speckle domains. Required for NXF1 localization to the nuclear rim. Plays a role for proper neuronal development.

Gene Ontology (GO) - Molecular Function for THOC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IEA --
GO:0003729 mRNA binding IBA --
GO:0005515 protein binding IPI 15870275
genes like me logo Genes that share ontologies with THOC2: view
genes like me logo Genes that share phenotypes with THOC2: view

Human Phenotype Ontology for THOC2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for THOC2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for THOC2 Gene

Localization for THOC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for THOC2 Gene

Nucleus. Nucleus speckle.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for THOC2 gene
Compartment Confidence
nucleus 5
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for THOC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000346 transcription export complex IDA 15833825
GO:0000347 THO complex IDA 15998806
GO:0000445 THO complex part of transcription export complex IDA 15998806
GO:0000784 colocalizes_with nuclear chromosome, telomeric region IDA 24270157
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with THOC2: view

Pathways & Interactions for THOC2 Gene

genes like me logo Genes that share pathways with THOC2: view

Gene Ontology (GO) - Biological Process for THOC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000902 cell morphogenesis IEA --
GO:0001824 blastocyst development IEA --
GO:0006369 termination of RNA polymerase II transcription TAS --
GO:0006397 mRNA processing IEA --
GO:0006405 RNA export from nucleus TAS --
genes like me logo Genes that share ontologies with THOC2: view

No data available for SIGNOR curated interactions for THOC2 Gene

Drugs & Compounds for THOC2 Gene

No Compound Related Data Available

Transcripts for THOC2 Gene

Unigene Clusters for THOC2 Gene

THO complex 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for THOC2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for THOC2 Gene

No ASD Table

Relevant External Links for THOC2 Gene

GeneLoc Exon Structure for
THOC2
ECgene alternative splicing isoforms for
THOC2

Expression for THOC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for THOC2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for THOC2 Gene

This gene is overexpressed in Serum (36.0) and Peripheral blood mononuclear cells (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for THOC2 Gene



Protein tissue co-expression partners for THOC2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of THOC2 Gene:

THOC2

SOURCE GeneReport for Unigene cluster for THOC2 Gene:

Hs.149991

mRNA Expression by UniProt/SwissProt for THOC2 Gene:

Q8NI27-THOC2_HUMAN
Tissue specificity: Expressed in the hippocampus and the cerebral cortex.

Evidence on tissue expression from TISSUES for THOC2 Gene

  • Liver(4.4)
  • Nervous system(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for THOC2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • head
genes like me logo Genes that share expression patterns with THOC2: view

Primer Products

No data available for mRNA differential expression in normal tissues for THOC2 Gene

Orthologs for THOC2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for THOC2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia THOC2 33 34
  • 99.81 (n)
cow
(Bos Taurus)
Mammalia -- 34
  • 98 (a)
OneToMany
-- 34
  • 96 (a)
OneToMany
THOC2 33
  • 95.92 (n)
dog
(Canis familiaris)
Mammalia THOC2 33 34
  • 96.67 (n)
rat
(Rattus norvegicus)
Mammalia Thoc2 33
  • 93.24 (n)
mouse
(Mus musculus)
Mammalia Thoc2 33 16 34
  • 93.2 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia THOC2 34
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia THOC2 34
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves THOC2 33 34
  • 81.41 (n)
lizard
(Anolis carolinensis)
Reptilia THOC2 34
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia thoc2 33
  • 76.05 (n)
Str.17127 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.21353 33
zebrafish
(Danio rerio)
Actinopterygii thoc2 33 34
  • 70.46 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9743 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008236 33
  • 53.89 (n)
fruit fly
(Drosophila melanogaster)
Insecta tho2 33 34
  • 52.83 (n)
worm
(Caenorhabditis elegans)
Secernentea thoc-2 33 34
  • 49.23 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes THO2 34 36
  • 20 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons THO2 33
  • 47.71 (n)
rice
(Oryza sativa)
Liliopsida Os01g0916800 33
  • 50.29 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3583 34
  • 60 (a)
OneToMany
-- 34
  • 38 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.10097 33
Species where no ortholog for THOC2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for THOC2 Gene

ENSEMBL:
Gene Tree for THOC2 (if available)
TreeFam:
Gene Tree for THOC2 (if available)

Paralogs for THOC2 Gene

No data available for Paralogs for THOC2 Gene

Variants for THOC2 Gene

Sequence variations from dbSNP and Humsavar for THOC2 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs797045018 Pathogenic, Mental retardation, X-linked 12 (MRX12) [MIM:300957] 123,665,715(-) TTACC(C/T)TGGTC nc-transcript-variant, reference, missense
rs797045019 Pathogenic, Mental retardation, X-linked 12 (MRX12) [MIM:300957] 123,668,239(-) GAAAG(C/T)TTACG nc-transcript-variant, reference, missense
rs797045020 Pathogenic, Mental retardation, X-linked 12 (MRX12) [MIM:300957] 123,625,935(-) ATTTT(C/T)CCACA nc-transcript-variant, reference, missense
rs797045021 Pathogenic, Mental retardation, X-linked 12 (MRX12) [MIM:300957] 123,631,770(-) TTCAA(C/T)TGATG nc-transcript-variant, reference, missense
rs483352705 Uncertain significance 123,697,748(-) AGACA(C/T)TGAGA nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for THOC2 Gene

Variant ID Type Subtype PubMed ID
esv3559282 CNV deletion 23714750
esv3574504 CNV loss 25503493
nsv476330 CNV novel sequence insertion 20440878
nsv7069 CNV insertion 18451855

Variation tolerance for THOC2 Gene

Residual Variation Intolerance Score: 1.63% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.13; 22.90% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for THOC2 Gene

Human Gene Mutation Database (HGMD)
THOC2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
THOC2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for THOC2 Gene

Disorders for THOC2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for THOC2 Gene - From: HGMD, OMIM, ClinVar, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mental retardation, x-linked 12/35
  • mental retardation, x-linked 12
peliosis hepatis
  • hepatic peliosis
intellectual disability
- elite association - COSMIC cancer census association via MalaCards
Search THOC2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

THOC2_HUMAN
  • Mental retardation, X-linked 12 (MRX12) [MIM:300957]: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. MRX12 patients manifest variable degrees of intellectual disability. Commonly observed features included speech delay, elevated BMI, short stature, seizure disorders, gait disturbance, and tremors. {ECO:0000269 PubMed:26166480}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for THOC2

Genetic Association Database (GAD)
THOC2
Human Genome Epidemiology (HuGE) Navigator
THOC2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
THOC2
genes like me logo Genes that share disorders with THOC2: view

No data available for Genatlas for THOC2 Gene

Publications for THOC2 Gene

  1. THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability. (PMID: 26166480) Kumar R … Gecz J (American journal of human genetics 2015) 2 3 4 60
  2. Recruitment of the human TREX complex to mRNA during splicing. (PMID: 15998806) Masuda S … Reed R (Genes & development 2005) 2 3 4 60
  3. TREX is a conserved complex coupling transcription with messenger RNA export. (PMID: 11979277) Strässer K … Hurt E (Nature 2002) 2 3 4 60
  4. Aly and THO are required for assembly of the human TREX complex and association of TREX components with the spliced mRNA. (PMID: 23222130) Chi B … Cheng H (Nucleic acids research 2013) 3 4 60
  5. The proteins PDIP3 and ZC11A associate with the human TREX complex in an ATP-dependent manner and function in mRNA export. (PMID: 22928037) Folco EG … Reed R (PloS one 2012) 3 4 60

Products for THOC2 Gene

Sources for THOC2 Gene

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