Aliases for THAP8 Gene

Aliases for THAP8 Gene

  • THAP Domain Containing 8 2 3 5
  • THAP Domain-Containing Protein 8 3 4

External Ids for THAP8 Gene

Previous GeneCards Identifiers for THAP8 Gene

  • GC19M041201
  • GC19M041217
  • GC19M036525
  • GC19M033031

Summaries for THAP8 Gene

GeneCards Summary for THAP8 Gene

THAP8 (THAP Domain Containing 8) is a Protein Coding gene. Diseases associated with THAP8 include Primary Autosomal Recessive Microcephaly. Gene Ontology (GO) annotations related to this gene include nucleic acid binding. An important paralog of this gene is THAP2.

Additional gene information for THAP8 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for THAP8 Gene

Genomics for THAP8 Gene

GeneHancer (GH) Regulatory Elements for THAP8 Gene

Promoters and enhancers for THAP8 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around THAP8 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the THAP8 gene promoter:
  • AML1a
  • CBF(2)
  • Evi-1
  • LCR-F1
  • NF-Y
  • Sp1
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c
  • STAT5B

Genomic Locations for THAP8 Gene

Genomic Locations for THAP8 Gene
19,779 bases
Minus strand
19,778 bases
Minus strand

Genomic View for THAP8 Gene

Genes around THAP8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
THAP8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for THAP8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for THAP8 Gene

Proteins for THAP8 Gene

  • Protein details for THAP8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    THAP domain-containing protein 8
    Protein Accession:
    Secondary Accessions:
    • Q0P5Z7
    • Q96M21

    Protein attributes for THAP8 Gene

    274 amino acids
    Molecular mass:
    30082 Da
    Quaternary structure:
    No Data Available

neXtProt entry for THAP8 Gene

Post-translational modifications for THAP8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for THAP8 Gene

No data available for DME Specific Peptides for THAP8 Gene

Domains & Families for THAP8 Gene

Gene Families for THAP8 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for THAP8 Gene


Suggested Antigen Peptide Sequences for THAP8 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ52000, highly similar to THAP domain-containing protein 8 (B4DMU1_HUMAN)
  • THAP domain-containing protein 8 (THAP8_HUMAN)
genes like me logo Genes that share domains with THAP8: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for THAP8 Gene

Function for THAP8 Gene

Gene Ontology (GO) - Molecular Function for THAP8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISM 19274049
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 25416956
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with THAP8: view
genes like me logo Genes that share phenotypes with THAP8: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for THAP8 Gene

Localization for THAP8 Gene

Subcellular locations from

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 THAP8 gene
Compartment Confidence
nucleus 3
plasma membrane 1
extracellular 1
mitochondrion 1
cytosol 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for THAP8 Gene

Pathways & Interactions for THAP8 Gene

PathCards logo

SuperPathways for THAP8 Gene

No Data Available

Gene Ontology (GO) - Biological Process for THAP8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006357 regulation of transcription by RNA polymerase II IEA --
genes like me logo Genes that share ontologies with THAP8: view

No data available for Pathways by source and SIGNOR curated interactions for THAP8 Gene

Drugs & Compounds for THAP8 Gene

No Compound Related Data Available

Transcripts for THAP8 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for THAP8 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b
SP2: -
SP4: -

Relevant External Links for THAP8 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for THAP8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for THAP8 Gene

NURSA nuclear receptor signaling pathways regulating expression of THAP8 Gene:


SOURCE GeneReport for Unigene cluster for THAP8 Gene:


Evidence on tissue expression from TISSUES for THAP8 Gene

  • Skin(4.1)
genes like me logo Genes that share expression patterns with THAP8: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for THAP8 Gene

Orthologs for THAP8 Gene

This gene was present in the common ancestor of chordates.

Orthologs for THAP8 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia THAP8 33 32
  • 98.02 (n)
(Bos Taurus)
Mammalia THAP8 33 32
  • 80.42 (n)
(Canis familiaris)
Mammalia THAP8 33 32
  • 77.78 (n)
(Anolis carolinensis)
Reptilia THAP8 33
  • 61 (a)
(Danio rerio)
Actinopterygii si:ch211-253b1.6 33
  • 13 (a)
Species where no ortholog for THAP8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • mouse (Mus musculus)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for THAP8 Gene

Gene Tree for THAP8 (if available)
Gene Tree for THAP8 (if available)
Evolutionary constrained regions (ECRs) for THAP8: view image

Paralogs for THAP8 Gene

(2) SIMAP similar genes for THAP8 Gene using alignment to 5 proteins:

  • U3KQ16_HUMAN
genes like me logo Genes that share paralogs with THAP8: view

Variants for THAP8 Gene

Sequence variations from dbSNP and Humsavar for THAP8 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs147077663 uncertain-significance, Primary Microcephaly 2 With or Without Cortical Malformations, not provided 36,054,981(-) G/C upstream_transcript_variant
rs1568560516 uncertain-significance, Primary autosomal recessive microcephaly 2 36,055,045(-) TT/TTT upstream_transcript_variant
rs200283315 uncertain-significance, Primary autosomal recessive microcephaly 2, not provided 36,055,053(-) C/G/T upstream_transcript_variant
rs587784552 uncertain-significance, Primary autosomal recessive microcephaly 2 36,055,003(-) G/C upstream_transcript_variant
rs62109744 benign, likely-benign, not specified, not provided, Primary autosomal recessive microcephaly 2 36,055,113(-) C/G/T upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for THAP8 Gene

Variant ID Type Subtype PubMed ID
esv3644244 CNV gain 21293372
nsv833815 CNV loss 17160897

Variation tolerance for THAP8 Gene

Residual Variation Intolerance Score: 67.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.87; 87.03% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for THAP8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for THAP8 Gene

Disorders for THAP8 Gene

MalaCards: The human disease database

(1) MalaCards diseases for THAP8 Gene - From: GeneCards

Disorder Aliases PubMed IDs
primary autosomal recessive microcephaly
  • mcph
- elite association - COSMIC cancer census association via MalaCards
Search THAP8 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for THAP8

genes like me logo Genes that share disorders with THAP8: view

No data available for UniProtKB/Swiss-Prot and Genatlas for THAP8 Gene

Publications for THAP8 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 56
  3. The THAP domain: a novel protein motif with similarity to the DNA-binding domain of P element transposase. (PMID: 12575992) Roussigne M … Girard JP (Trends in biochemical sciences 2003) 2 3 56
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 56
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 56

Products for THAP8 Gene

Sources for THAP8 Gene