THAP7: THAP Domain Containing 7
A zinc finger transcription factor involved in cell cycle regulation and chromatin remodeling
Gene Information Card
| Symbol | THAP7 |
|---|---|
| Full Name | THAP domain containing 7 |
| Gene Type | protein-coding |
| Chromosomal Location | 22q11.21 |
| NCBI Gene ID | 80764 ncbi.nlm.nih.gov/gene/80764 |
| Ensembl ID | ENSG00000184497 |
| UniProt ID | Q9BT49 |
| OMIM ID | 612532 |
| HGNC ID | 23191 |
| Aliases | FLJ21908, MGC138290 |
Description
THAP7 (THAP domain containing 7) encodes a zinc finger protein belonging to the THAP family. The protein contains an N-terminal THAP domain that mediates DNA binding and a C-terminal coiled-coil domain involved in protein-protein interactions. THAP7 acts as a transcriptional repressor by recruiting histone deacetylase complexes to target promoters, thereby regulating cell cycle progression and chromatin structure. It is implicated in cellular proliferation and differentiation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate cancer | THAP7 overexpression may promote tumor growth via dysregulation of cell cycle genes | COSMIC; PMID: 20628086 |
| Colorectal cancer | Altered THAP7 expression linked to aberrant chromatin remodeling and proliferation | COSMIC; PMID: 22037554 |
| Lung cancer | THAP7 mutations and copy number alterations observed in adenocarcinoma | COSMIC; PMID: 22955915 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Thyroid | 9.8 | Medium |
| Prostate | 8.2 | Medium |
| Lung | 6.1 | Low |
| Colon | 5.4 | Low |
| Breast | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.3 | Cervical cancer cell line |
| A549 | 7.8 | Lung adenocarcinoma cell line |
| MCF7 | 6.2 | Breast cancer cell line |
| HCT116 | 5.9 | Colorectal carcinoma cell line |
| HEK293 | 4.5 | Embryonic kidney cell line |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374C>T (p.Pro125Leu) | Missense | <0.1% | Unknown functional effect |
| c.458G>A (p.Arg153Gln) | Missense | <0.1% | Unknown functional effect |
| c.601_603del (p.Lys201del) | In-frame deletion | <0.1% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
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)
Pathways
• Chromatin organization (Reactome: R-HSA-4839726)
• Transcriptional regulation by THAP proteins (Reactome: R-HSA-6807062)
Protein Summary
THAP7 is a 263-amino acid nuclear protein with a molecular weight of approximately 29 kDa. It contains a THAP domain (residues 1-80) that binds DNA in a sequence-specific manner, and a coiled-coil domain (residues 180-230) that mediates homodimerization and interaction with HDAC3. THAP7 functions as a transcriptional repressor by recruiting the NCoR/SMRT-HDAC3 complex to target gene promoters, leading to histone deacetylation and chromatin compaction. It is widely expressed in adult tissues, with highest levels in testis and thyroid. THAP7 plays a role in cell cycle control and its dysregulation has been associated with several cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| THAP7 Knockout HEK293 Cell Line | EDJ-KQ2856 | Human | 80764 | Details Get a Quote |
| THAP7 Knockout A-549 Cell Line | EDJ-KQ22503 | Human | 80764 | Details Get a Quote |
| THAP7 Knockout HCT 116 Cell Line | EDJ-KQ23872 | Human | 80764 | Details Get a Quote |
| THAP7 Knockout HeLa Cell Line | EDJ-KQ23873 | Human | 80764 | Details Get a Quote |