THAP12
THAP Domain Containing 12
Gene Information Card
| Symbol | THAP12 |
|---|---|
| Full Name | THAP domain containing 12 |
| Gene Type | Protein coding |
| Chromosomal Location | 16q22.1 |
| NCBI Gene ID | 57200 ncbi.nlm.nih.gov/gene/57200 |
| Ensembl ID | ENSG00000102977 |
| UniProt ID | Q9BTT0 |
| OMIM ID | 618322 |
| HGNC ID | 20855 |
| Aliases | THAP0, DAP4, PHD12, PRKRIR |
Description
THAP12 encodes a protein containing a THAP domain, which is a zinc-finger DNA-binding domain found in a family of proteins involved in transcriptional regulation, cell cycle control, and apoptosis. The protein may function as a nuclear factor and has been implicated in cellular stress responses and tumorigenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression and potential role in cell proliferation | COSMIC, literature |
| Neurodevelopmental disorders | Possible involvement due to THAP domain function | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 8.5 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.0 | Moderate expression |
| HeLa | 9.5 | Low expression |
| K562 | 7.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123C>T | Missense | <0.1% | Unknown significance |
| c.456del | Frameshift | <0.05% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants may lead to truncated protein and loss of DNA-binding activity.
Gain of Function (GOF)
Not well documented; no recurrent activating mutations reported.
Dominant Negative (DN)
No evidence currently available.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity (GO:0003700) | • Zinc ion binding (GO:0008270) |
| • Nucleus (GO:0005634) | • DNA-templated (GO:0006355) |
Pathways
• Not assigned to any specific KEGG or Reactome pathway
Protein Summary
THAP12 is a 275-amino acid protein with a THAP domain at the N-terminus, which mediates sequence-specific DNA binding. It localizes to the nucleus and is thought to regulate gene expression. The protein also contains a coiled-coil region that may facilitate protein-protein interactions. Its exact biological role remains under investigation, but it is implicated in cell growth control.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| THAP12 Knockout HEK293 Cell Line | EDJ-KQ5539 | Human | 5612 | Details Get a Quote |
| THAP12 Knockout A-549 Cell Line | EDJ-KQ28795 | Human | 5612 | Details Get a Quote |
| THAP12 Knockout HCT 116 Cell Line | EDJ-KQ28796 | Human | 5612 | Details Get a Quote |
| THAP12 Knockout HeLa Cell Line | EDJ-KQ28797 | Human | 5612 | Details Get a Quote |
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