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-Inne... See more...

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
  • THO Complex Subunit 6 Homolog 3 4
  • WD Repeat Domain 58 2 3
  • FSAP35 3 4
  • WDR58 3 4
  • THO Complex 6 Homolog (Drosophila) 2

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. Among its related pathways are Gene Expression and Transport of Mature Transcript to Cytoplasm. Gene Ontology (GO) annotations related to this gene include RNA binding.

UniProtKB/Swiss-Prot Summary 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 Kaposi's 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 , Rfam classification and piRNA Summary for THOC6 Gene

Genomics for THOC6 Gene

GeneHancer (GH) Regulatory Elements for THOC6 Gene

Promoters and enhancers for THOC6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J003020 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 546.1 -1.8 -1826 6 EP300 HNRNPK ZBTB40 ZNF217 CTCF SIN3A NRF1 TCF12 MYC POLR2G THOC6 HCFC1R1 HSALNG0109104 TNFRSF12A SRRM2 E4F1 ZNF263 ENSG00000261938 ERVK13-1 CREBBP
GH16J002147 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 31.8 -868.2 -868237 17.4 FOXK2 ZBTB40 ZNF217 EP300 CTCF SIN3A NRF1 MYC TCF12 POLR2G TRAF7 SNORD60 SNHG19 ENSG00000281010 RAB26 TELO2 CRAMP1 ENSG00000260051 E4F1 ENSG00000261505
GH16J002511 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 31.8 -507.6 -507574 10.7 RXRA HNRNPK EP300 CTCF SIN3A NRF1 MYC TCF12 POLR2G USF1 ATP6V0C AMDHD2 ENSG00000279520 SRRM2 ENSG00000260954 ENSG00000255513 THOC6 SNORA64 ENSG00000262482 ZNF598
GH16J002602 Promoter/Enhancer 2.3 UCNEbase Ensembl ENCODE CraniofacialAtlas dbSUPER 31.8 -419.6 -419626 4.8 RXRA ZBTB40 ZNF217 EP300 ZSCAN5C SIN3A TCF12 MYC USF1 POLR2G ENSG00000215154 LOC652276 lnc-PDPK1-2 piR-45298-001 piR-32815-001 SRRM2 ENSG00000255513 THOC6 SNORA64 ZNF597
GH16J003262 Promoter/Enhancer 1.9 Ensembl ENCODE CraniofacialAtlas dbSUPER 30.2 +239.9 239915 2.9 FOXK2 ZBTB40 ZNF217 CTCF SIN3A NRF1 MYC POLR2G SP1 RBAK ZNF263 LINC00921 SRRM2 CREBBP ZNF75A THOC6 ENSG00000262482 ENSG00000261938 ZNF213-AS1 ZNF597
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around THOC6 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for THOC6

Top Transcription factor binding sites by QIAGEN in the THOC6 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • COUP
  • COUP-TF
  • COUP-TF1
  • HNF-4alpha1
  • HNF-4alpha2

Genomic Locations for THOC6 Gene

Genomic Locations for THOC6 Gene
chr16:3,024,027-3,027,755
(GRCh38/hg38)
Size:
3,729 bases
Orientation:
Plus strand
chr16:3,074,028-3,077,756
(GRCh37/hg19)
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=Extended N-terminus.; 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

Suggested Antigen Peptide Sequences for THOC6 Gene

GenScript: Design optimal peptide antigens:
  • WD repeat-containing protein 58 (THOC6_HUMAN)

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 Kaposi's 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 --
GO:0005515 protein 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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for THOC6

Clone Products

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
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
lysosome 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:0006397 mRNA processing IEA --
GO:0006405 RNA export from nucleus TAS --
GO:0006406 mRNA export from nucleus TAS --
GO:0006915 apoptotic process IEA --
GO:0007275 multicellular organism development 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

mRNA/cDNA for THOC6 Gene

4 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for THOC6

Clone Products

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

Expression for THOC6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for THOC6 Gene



Protein tissue co-expression partners for THOC6 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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
Regions:
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

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 31 30
  • 99.61 (n)
OneToOne
cow
(Bos Taurus)
Mammalia THOC6 31 30
  • 90.42 (n)
OneToOne
dog
(Canis familiaris)
Mammalia THOC6 31 30
  • 89.64 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Thoc6 30
  • 87.39 (n)
mouse
(Mus musculus)
Mammalia Thoc6 17 31 30
  • 86.8 (n)
oppossum
(Monodelphis domestica)
Mammalia THOC6 31
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia THOC6 31
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia THOC6 31
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100498236 30
  • 63.72 (n)
Str.14482 30
zebrafish
(Danio rerio)
Actinopterygii thoc6 31 30
  • 61.46 (n)
OneToOne
wufb96g04 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7460 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005429 30
  • 48.59 (n)
fruit fly
(Drosophila melanogaster)
Insecta thoc6 31 30
  • 42.93 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.830 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for THOC6: view image

Paralogs for THOC6 Gene

No data available for Paralogs for THOC6 Gene

Variants for THOC6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for THOC6 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
718042 Likely Benign: not provided 3,025,761(+) C/T SYNONYMOUS_VARIANT
725528 Benign: not provided 3,027,413(+) C/T SYNONYMOUS_VARIANT,INTRON_VARIANT
727901 Likely Benign: not provided 3,026,176(+) C/T INTRON_VARIANT
727902 Likely Benign: not provided 3,027,259(+) C/T SYNONYMOUS_VARIANT
733176 Likely Benign: not provided 3,026,889(+) C/G SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for THOC6 Gene

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)

Additional Variant Information for THOC6 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for THOC6 Gene

MalaCards: The human disease database

(1) MalaCards diseases for THOC6 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, and GeneCards

Disorder Aliases PubMed IDs
beaulieu-boycott-innes syndrome
  • bbis
- 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.

Additional Disease Information for THOC6

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 54
  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 54
  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 41 54
  4. Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. (PMID: 19773279) Hosgood HD … Lan Q (Occupational and environmental medicine 2009) 3 41 54
  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 54

Products for THOC6 Gene