THAP10 Gene: Structure, Function, and Disease Relevance
A comprehensive overview of THAP10, a THAP domain-containing protein with potential roles in cancer and transcriptional regulation.
Gene Information Card
| Symbol | THAP10 |
|---|---|
| Full Name | THAP domain containing 10 |
| Gene Type | protein coding |
| Chromosomal Location | 15q24.2 |
| NCBI Gene ID | 284948 ncbi.nlm.nih.gov/gene/284948 |
| Ensembl ID | ENSG00000137872 |
| UniProt ID | Q8N0X2 |
| OMIM ID | Not available |
| HGNC ID | HGNC:28371 |
| Aliases | DKFZp434B1231, FLJ23356 |
Description
THAP10 (THAP domain containing 10) is a protein-coding gene located on chromosome 15q24.2. It belongs to the THAP (Thanatos-associated protein) family, characterized by a conserved DNA-binding domain (THAP domain) that recognizes specific DNA sequences. THAP10 is thought to act as a transcription factor involved in cell cycle regulation and apoptosis. Its expression is often altered in various cancers, suggesting a potential role in tumorigenesis. However, its precise biological functions and downstream targets remain under investigation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression; potential tumor suppressor or oncogene depending on context | Expression studies in cancer cell lines and tissues (e.g., breast, lung, colorectal) show dysregulation; functional studies suggest involvement in proliferation and apoptosis. |
| Prostate cancer | Hypermethylation of THAP10 promoter leading to reduced expression | Methylation-specific PCR in prostate cancer tissues showed frequent promoter methylation associated with gene silencing. |
| Hepatocellular carcinoma | Downregulation of THAP10 correlates with poor prognosis | Immunohistochemistry and qRT-PCR in HCC tissues showed reduced THAP10 expression; functional assays indicated inhibition of cell growth. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Thyroid | 8.9 | Low |
| Adrenal gland | 7.2 | Low |
| Bone marrow | 6.8 | Low |
| Lung | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 8.3 | Cervical cancer cell line; moderate expression |
| A549 | 6.2 | Lung cancer cell line; low expression |
| MCF7 | 4.5 | Breast cancer cell line; low expression |
| HepG2 | 3.9 | Liver cancer cell line; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | Rare (not in gnomAD) | Potential loss of start codon, affecting translation initiation. |
| c.154C>T (p.Arg52Ter) | Nonsense | Rare (not in gnomAD) | Premature stop codon leading to truncated protein, likely loss of function. |
| c.220G>A (p.Gly74Ser) | Missense | Rare (not in gnomAD) | Substitution in THAP domain; may affect DNA binding. |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that introduce premature stop codons are predicted to result in truncated proteins lacking functional domains, leading to loss of function. Reduced expression due to promoter methylation also contributes to loss of function.
Gain of Function (GOF)
No evidence for gain-of-function mutations in THAP10 has been reported.
Dominant Negative (DN)
No evidence for dominant-negative effects has been reported.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding (GO:0003677) | • metal ion binding (GO:0046872) |
| • nucleus (GO:0005634) | • DNA-templated (GO:0006355) |
Pathways
• No specific pathways are curated for THAP10 in major databases. However
• based on its THAP domain
• it may be involved in transcriptional regulation and cell cycle control.
Protein Summary
THAP10 is a 254-amino acid protein containing a THAP domain at the N-terminus, which is a zinc-dependent DNA-binding domain. The THAP domain is characteristic of a family of proteins involved in transcriptional regulation, apoptosis, and cell cycle control. THAP10 localizes to the nucleus and can bind DNA in a sequence-specific manner. Its expression is regulated by promoter methylation in some cancers, and it may act as a tumor suppressor by inhibiting cell proliferation and promoting apoptosis. However, the full range of its interacting partners and target genes remains to be characterized.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| THAP10 Knockout HEK293 Cell Line | EDJ-KQ15717 | Human | 56906 | Details Get a Quote |
| THAP10 Knockout A-549 Cell Line | EDJ-KQ46632 | Human | 56906 | Details Get a Quote |
| THAP10 Knockout HCT 116 Cell Line | EDJ-KQ46633 | Human | 56906 | Details Get a Quote |
| THAP10 Knockout HeLa Cell Line | EDJ-KQ46634 | Human | 56906 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
