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Aliases for THOC6 Gene

Aliases for THOC6 Gene

  • THO Complex 6 2 3 5
  • Functional Spliceosome-Associated Protein 35 2 3 4
  • WD Repeat-Containing Protein 58 3 4
  • WD Repeat Domain 58 2 3
  • FSAP35 3 4
  • WDR58 3 4
  • THO Complex 6 Homolog (Drosophila) 2
  • THO Complex Subunit 6 Homolog 3

External Ids for THOC6 Gene

Previous HGNC Symbols for THOC6 Gene

  • WDR58

Previous GeneCards Identifiers for THOC6 Gene

  • GC16P003017
  • GC16P003079
  • GC16P003045
  • GC16P003080
  • GC16P003081
  • GC16P003113
  • GC16P003128
  • GC16P003152

Summaries for THOC6 Gene

Entrez Gene Summary for THOC6 Gene

  • This gene encodes a subunit of the multi-protein THO complex, which is involved in coordination between transcription and mRNA processing. The THO complex is a component of the TREX (transcription/export) complex, which is involved in transcription and export of mRNAs. A missense mutation in this gene is associated with a neurodevelopmental disorder called Beaulieu-Boycott-Innes syndrome. [provided by RefSeq, Dec 2016]

GeneCards Summary for THOC6 Gene

THOC6 (THO Complex 6) is a Protein Coding gene. Diseases associated with THOC6 include Beaulieu-Boycott-Innes Syndrome and Intellectual Disability. 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 THOC6 Gene

  • 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. Plays a role in apoptosis negative control involved in brain development.

Additional gene information for THOC6 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for THOC6 Gene

Genomics for THOC6 Gene

Regulatory Elements for THOC6 Gene

Enhancers for THOC6 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
GH16H003148 1.7 Ensembl ENCODE dbSUPER 47.6 +127.2 127159 4 MLX ZFP64 YY1 SLC30A9 ZNF143 SP3 NFYC ZC3H11A MEF2D SSRP1 CREBBP E4F1 ZNF263 THOC6 ZNF597 ZNF213-AS1 SRRM2 ZNF205 AMDHD2 ENSG00000261938
GH16H002147 2 FANTOM5 Ensembl ENCODE dbSUPER 31.2 -868.2 -868237 17 MLX ZFP64 YBX1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC CRAMP1 ENSG00000260051 ENSG00000261505 TELO2 TBL3 UNKL E4F1 TSC2 SRRM2 ZNF213-AS1
GH16H003004 1.7 FANTOM5 ENCODE dbSUPER 22.1 -15.9 -15942 7 HNRNPUL1 HDGF PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 ZBTB7B YY1 CREBBP MMP25 ZNF597 LOC107984895 SRRM2 AMDHD2 ZNF263 ZNF598 E4F1 THOC6
GH16H002915 1.5 Ensembl ENCODE dbSUPER 23.7 -108.0 -107957 1 ZNF2 GTF3C2 ZNF121 ZNF548 TSHZ1 ZNF592 MAFF ZNF610 SMARCA4 GLIS1 SRRM2 ZNF598 CREBBP ENSG00000255513 SNORA64 LOC105371055 ZNF263 THOC6 ENSG00000261938 E4F1
GH16H002266 1.2 ENCODE 25.2 -755.8 -755816 3 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF263 UBE2I UNKL ENSG00000261505 TSC2 E4F1 ENSG00000260051 TBL3 CRAMP1 AMDHD2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around THOC6 on UCSC Golden Path with GeneCards custom track

Promoters for THOC6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000082580 173 1201 HDGF PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1

Genomic Location for THOC6 Gene

Chromosome:
16
Start:
3,024,027 bp from pter
End:
3,027,755 bp from pter
Size:
3,729 bases
Orientation:
Plus strand

Genomic View for THOC6 Gene

Genes around THOC6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
THOC6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for THOC6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for THOC6 Gene

Proteins for THOC6 Gene

  • Protein details for THOC6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86W42-THOC6_HUMAN
    Recommended name:
    THO complex subunit 6 homolog
    Protein Accession:
    Q86W42
    Secondary Accessions:
    • B2RA85
    • Q8NBR1
    • Q9BTV9

    Protein attributes for THOC6 Gene

    Size:
    341 amino acids
    Molecular mass:
    37535 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.
    SequenceCaution:
    • Sequence=BAG36782.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for THOC6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for THOC6 Gene

Post-translational modifications for THOC6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for THOC6 Gene

No data available for DME Specific Peptides for THOC6 Gene

Domains & Families for THOC6 Gene

Gene Families for THOC6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for THOC6 Gene

Suggested Antigen Peptide Sequences for THOC6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q86W42

UniProtKB/Swiss-Prot:

THOC6_HUMAN :
  • Belongs to the WD repeat THOC6 family.
Family:
  • Belongs to the WD repeat THOC6 family.
genes like me logo Genes that share domains with THOC6: view

Function for THOC6 Gene

Molecular function for THOC6 Gene

UniProtKB/Swiss-Prot Function:
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. Plays a role in apoptosis negative control involved in brain development.

Phenotypes From GWAS Catalog for THOC6 Gene

Gene Ontology (GO) - Molecular Function for THOC6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IEA --
genes like me logo Genes that share ontologies with THOC6: view
genes like me logo Genes that share phenotypes with THOC6: view

Human Phenotype Ontology for THOC6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for THOC6 Gene

miRTarBase miRNAs that target THOC6

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for THOC6
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for THOC6 Gene

Localization for THOC6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for THOC6 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 THOC6 gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for THOC6 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 IDA,IEA 23621916
genes like me logo Genes that share ontologies with THOC6: view

Pathways & Interactions for THOC6 Gene

genes like me logo Genes that share pathways with THOC6: view

Gene Ontology (GO) - Biological Process for THOC6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006369 termination of RNA polymerase II transcription TAS --
GO:0006397 mRNA processing IEA --
GO:0006405 RNA export from nucleus TAS --
GO:0006406 mRNA export from nucleus TAS --
GO:0006810 transport IEA --
genes like me logo Genes that share ontologies with THOC6: view

No data available for SIGNOR curated interactions for THOC6 Gene

Drugs & Compounds for THOC6 Gene

No Compound Related Data Available

Transcripts for THOC6 Gene

Unigene Clusters for THOC6 Gene

THO complex 6 homolog (Drosophila):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for THOC6
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for THOC6 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11
SP1:
SP2:
SP3:

Relevant External Links for THOC6 Gene

GeneLoc Exon Structure for
THOC6
ECgene alternative splicing isoforms for
THOC6

Expression for THOC6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for THOC6 Gene

Protein differential expression in normal tissues from HIPED for THOC6 Gene

This gene is overexpressed in Liver (8.4) and Fetal gut (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for THOC6 Gene



Protein tissue co-expression partners for THOC6 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of THOC6 Gene:

THOC6

SOURCE GeneReport for Unigene cluster for THOC6 Gene:

Hs.412304

Evidence on tissue expression from TISSUES for THOC6 Gene

  • Lung(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for THOC6 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • nose
  • scalp
  • skull
  • tooth
Thorax:
  • heart
Abdomen:
  • kidney
Pelvis:
  • ureter
  • urethra
  • urinary bladder
  • uterus
General:
  • blood
  • blood vessel
  • hair
  • peripheral nervous system
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with THOC6: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for THOC6 Gene

Orthologs for THOC6 Gene

This gene was present in the common ancestor of animals.

Orthologs for THOC6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia THOC6 33 34
  • 99.61 (n)
cow
(Bos Taurus)
Mammalia THOC6 33 34
  • 90.42 (n)
dog
(Canis familiaris)
Mammalia THOC6 33 34
  • 89.64 (n)
rat
(Rattus norvegicus)
Mammalia Thoc6 33
  • 87.39 (n)
mouse
(Mus musculus)
Mammalia Thoc6 33 16 34
  • 86.8 (n)
oppossum
(Monodelphis domestica)
Mammalia THOC6 34
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia THOC6 34
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia THOC6 34
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100498236 33
  • 63.72 (n)
Str.14482 33
zebrafish
(Danio rerio)
Actinopterygii thoc6 33 34
  • 61.46 (n)
wufb96g04 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7460 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005429 33
  • 48.59 (n)
fruit fly
(Drosophila melanogaster)
Insecta thoc6 33 34
  • 42.93 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.830 34
  • 35 (a)
OneToOne
Species where no ortholog for THOC6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • 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 (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for THOC6 Gene

ENSEMBL:
Gene Tree for THOC6 (if available)
TreeFam:
Gene Tree for THOC6 (if available)

Paralogs for THOC6 Gene

No data available for Paralogs for THOC6 Gene

Variants for THOC6 Gene

Sequence variations from dbSNP and Humsavar for THOC6 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs587777030 Pathogenic, Beaulieu-Boycott-Innes syndrome (BBIS) [MIM:613680] 3,025,804(+) ATTAC(A/G)GGCAG upstream-variant-2KB, reference, missense
rs1000616190 -- 3,023,970(+) GGATC(C/T)GGGCG intron-variant, upstream-variant-2KB, splice-acceptor-variant, utr-variant-5-prime
rs1000918889 -- 3,023,716(+) CCCCA(C/G)TCCCA intron-variant, upstream-variant-2KB
rs1000950947 -- 3,022,677(+) CCTCC(C/T)TTCCC intron-variant, upstream-variant-2KB, utr-variant-3-prime
rs1001001726 -- 3,023,017(+) TGACT(C/G)TCAGG intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for THOC6 Gene

Variant ID Type Subtype PubMed ID
esv3637645 CNV gain 21293372
nsv509588 CNV insertion 20534489
nsv510673 CNV deletion 20534489
nsv833125 CNV loss 17160897
nsv952906 CNV deletion 24416366

Variation tolerance for THOC6 Gene

Residual Variation Intolerance Score: 16.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.27; 25.37% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for THOC6 Gene

Human Gene Mutation Database (HGMD)
THOC6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
THOC6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for THOC6 Gene

Disorders for THOC6 Gene

MalaCards: The human disease database

(2) MalaCards diseases for THOC6 Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
beaulieu-boycott-innes syndrome
  • thoc6-related developmental delay-microcephaly-facial dysmorphism syndrome
intellectual disability
- elite association - COSMIC cancer census association via MalaCards
Search THOC6 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

THOC6_HUMAN
  • Beaulieu-Boycott-Innes syndrome (BBIS) [MIM:613680]: An autosomal recessive neurodevelopmental disorder characterized by delayed development, moderate intellectual disability, and dysmorphic facial features. Other developmental anomalies, such as cardiac and renal defects, may also occur. {ECO:0000269 PubMed:23621916}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for THOC6

Genetic Association Database (GAD)
THOC6
Human Genome Epidemiology (HuGE) Navigator
THOC6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
THOC6
genes like me logo Genes that share disorders with THOC6: view

No data available for Genatlas for THOC6 Gene

Publications for THOC6 Gene

  1. Recruitment of the human TREX complex to mRNA during splicing. (PMID: 15998806) Masuda S … Reed R (Genes & development 2005) 2 3 4 60
  2. Intellectual disability associated with a homozygous missense mutation in THOC6. (PMID: 23621916) Beaulieu CL … Boycott KM (Orphanet journal of rare diseases 2013) 3 4 60
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 45 60
  4. Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. (PMID: 19773279) Hosgood HD … Lan Q (Occupational and environmental medicine 2009) 3 45 60
  5. Recruitment of the complete hTREX complex is required for Kaposi's sarcoma-associated herpesvirus intronless mRNA nuclear export and virus replication. (PMID: 18974867) Boyne JR … Whitehouse A (PLoS pathogens 2008) 3 4 60

Products for THOC6 Gene

Sources for THOC6 Gene

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