THAP9
THAP Domain Containing 9, a Putative Transposase-Related Gene
Gene Information Card
| Symbol | THAP9 |
|---|---|
| Full Name | THAP domain containing 9 |
| Gene Type | Protein coding |
| Chromosomal Location | 4q21.22 |
| NCBI Gene ID | 79725 ncbi.nlm.nih.gov/gene/79725 |
| Ensembl ID | ENSG00000138668 |
| UniProt ID | Q8N7F7 |
| OMIM ID | 612537 |
| HGNC ID | 23191 |
| Aliases | FLJ11273, THAP9-AS1 |
Description
THAP9 (THAP domain containing 9) is a protein-coding gene located on chromosome 4q21.22. It encodes a protein containing a THAP (Thanatos-associated protein) domain, which is a zinc-finger motif involved in DNA binding and transcriptional regulation. THAP9 is evolutionarily related to the Drosophila P-element transposase and is thought to have transposase activity in humans, though its precise biological functions remain under investigation. Expression data suggest roles in cell cycle regulation and potential involvement in cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression and potential transposase activity may contribute to genomic instability | COSMIC mutation data; differential expression in tumors |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 2.1 | Low |
| Brain | 0.8 | Not detected |
| Lung | 0.5 | Not detected |
| Liver | 0.3 | Not detected |
| Kidney | 0.4 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 0.6 | Low expression |
| K562 | 0.3 | Not detected |
| HEK293 | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Ala34Val) | Missense | <0.1% | Unknown; rare variant |
| c.452G>A (p.Arg151Gln) | Missense | <0.1% | Unknown; rare variant |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding (GO:0003677) | • Zinc ion binding (GO:0008270) |
| • Nucleus (GO:0005634) | • DNA-templated (GO:0006355) |
Protein Summary
The THAP9 protein contains a THAP domain at its N-terminus, which is a C2CH-type zinc finger that mediates sequence-specific DNA binding. It shares homology with the Drosophila P-element transposase, suggesting a role in DNA transposition. The protein is localized to the nucleus and may regulate gene expression. Its exact cellular functions and substrates remain largely uncharacterized.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| THAP9 Knockout HEK293 Cell Line | EDJ-KQ15716 | Human | 79725 | Details Get a Quote |
| THAP9 Knockout A-549 Cell Line | EDJ-KQ46629 | Human | 79725 | Details Get a Quote |
| THAP9 Knockout HCT 116 Cell Line | EDJ-KQ46630 | Human | 79725 | Details Get a Quote |
| THAP9 Knockout HeLa Cell Line | EDJ-KQ46631 | Human | 79725 | Details Get a Quote |
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