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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. Among its related pathways are RNA Polymerase II Transcription Termination and Gene Expression. Gene Ontology (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

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
GH16I003019 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 589.5 -1.7 -1724 5.2 MLX DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF416 ZNF143 SP3 NFYC THOC6 HCFC1R1 TNFRSF12A ZNF263 ENSG00000261938 E4F1 SRRM2 TSC2 ERVK13-1 ZNF75A
GH16I002147 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 43.1 -868.2 -868237 17.4 CLOCK MLX ZFP64 YBX1 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 TRAF7 SNORD60 SNHG19 ENSG00000281010 GC16M002156 GC16M002158 RAB26 ENSG00000261505 ENSG00000260051 SRRM2
GH16I002266 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 40.4 -755.8 -755815 3.2 ZFP64 DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC ZNF610 GLIS1 RNPS1 LOC106660606 GC16M002267 GC16M002266 ZNF263 ENSG00000260051 ENSG00000261505 E4F1 AMDHD2 TSC2
GH16I003148 Enhancer 1.5 Ensembl ENCODE dbSUPER 34.4 +127.2 127158 4.9 CLOCK MLX ZFP64 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 TRR-CCG1-3 TRR-CCT3-1 TRP-AGG6-1 GC16P003506 ZNF205 ZNF213-AS1 ZNF75A THOC6 MTCO1P28 E4F1
GH16I003003 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE dbSUPER 22.1 -16.2 -16211 8.4 HDGF HNRNPUL1 PKNOX1 CLOCK FOXA2 MLX ARNT ARID4B NEUROD1 SIN3A LOC107984895 LOC105371056 CREBBP ZNF597 MMP25 AMDHD2 SRRM2 ZNF598 ZNF263 ZNF200
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around THOC6 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the THOC6 gene promoter:

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)

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

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

miRNA for THOC6 Gene

miRTarBase miRNAs that target 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
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:

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
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(4.2)

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 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 Variation AA Info Type
rs587777030 pathogenic, Beaulieu-Boycott-Innes syndrome, Beaulieu-Boycott-Innes syndrome (BBIS) [MIM:613680] 3,025,804(+) G/A coding_sequence_variant, missense_variant
rs1000616190 -- 3,023,970(+) T/C upstream_transcript_variant
rs1000918889 -- 3,023,716(+) G/C upstream_transcript_variant
rs1000950947 -- 3,022,677(+) C/T upstream_transcript_variant
rs1001001726 -- 3,023,017(+) G/A/C upstream_transcript_variant

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: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, 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 58
  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 58
  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 44 58
  4. Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. (PMID: 19773279) Hosgood HD … Lan Q (Occupational and environmental medicine 2009) 3 44 58
  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 58

Products for THOC6 Gene

Sources for THOC6 Gene

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