HDAC7 Gene: Histone Deacetylase 7
Transcriptional regulator in development and immunity
Gene Information Card
| Symbol | HDAC7 |
|---|---|
| Full Name | Histone Deacetylase 7 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q13.11 |
| NCBI Gene ID | 51564 ncbi.nlm.nih.gov/gene/51564 |
| Ensembl ID | ENSG00000161265 |
| UniProt ID | Q8WUI4 |
| OMIM ID | 606542 |
| HGNC ID | 14067 |
| Aliases | HD7, HDAC7A, DKFZp586J0917 |
Description
HDAC7 encodes a class IIa histone deacetylase that regulates transcription by removing acetyl groups from histone tails, leading to chromatin condensation and transcriptional repression. It plays critical roles in T-cell development, angiogenesis, and muscle differentiation. HDAC7 shuttles between the nucleus and cytoplasm in response to cellular signals.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| T-cell acute lymphoblastic leukemia (T-ALL) | Dysregulation of HDAC7 expression alters NOTCH1 signaling and T-cell maturation | PMID: 20010870 |
| Breast cancer | HDAC7 overexpression promotes metastasis via repression of metastasis suppressor genes | PMID: 19029980 |
| Colorectal cancer | HDAC7 upregulation correlates with poor prognosis and epithelial-mesenchymal transition | PMID: 23542377 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 10.2 | Medium |
| Lung | 8.1 | Low |
| Thymus | 7.5 | Low |
| Brain | 3.4 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.3 | High expression |
| HeLa | 9.8 | Medium expression |
| Jurkat (T-cell) | 7.2 | Low expression |
| MCF7 | 6.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1132C>T (p.Arg378Cys) | Missense | <0.1% | Alters catalytic domain; potential loss of deacetylase activity |
| c.1456G>A (p.Glu486Lys) | Missense | <0.1% | Located in nuclear localization signal; may affect subcellular localization |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the catalytic domain (e.g., p.Arg378Cys) reduce deacetylase activity, impairing transcriptional repression.
Gain of Function (GOF)
Not well documented; overexpression in cancers suggests possible gain-of-function via increased repression of tumor suppressors.
Dominant Negative (DN)
Truncating mutations or altered splicing may produce dominant-negative isoforms that interfere with wild-type HDAC7 function.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004407 – histone deacetylase activity | • GO:0005634 – nucleus |
| • GO:0005737 – cytoplasm | • GO:0000122 – negative regulation of transcription by RNA polymerase II |
| • GO:0045944 – positive regulation of transcription by RNA polymerase II | • GO:0006357 – regulation of transcription by RNA polymerase II |
Pathways
• Notch signaling pathway (KEGG: hsa04330)
• Transcriptional misregulation in cancer (KEGG: hsa05202)
• Chromatin modifying enzymes (Reactome: R-HSA-3214847)
Protein Summary
HDAC7 is a 952-amino acid class IIa histone deacetylase that represses transcription by deacetylating histones. It contains an N-terminal MEF2-binding domain and a C-terminal catalytic domain. HDAC7 shuttles between nucleus and cytoplasm; nuclear export is regulated by phosphorylation by CaMK and PKC. It is essential for thymocyte development and vascular integrity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HDAC7 Knockout HEK293 Cell Line | EDJ-KQ3535 | Human | 51564 | Details Get a Quote |
| HDAC7 Knockout A-549 Cell Line | EDJ-KQ25377 | Human | 51564 | Details Get a Quote |
| HDAC7 Knockout HCT 116 Cell Line | EDJ-KQ25378 | Human | 51564 | Details Get a Quote |
| HDAC7 Knockout HeLa Cell Line | EDJ-KQ25379 | Human | 51564 | Details Get a Quote |
| HDAC7 Knockout HAP1 Cell Line | EDC08279 | Human | 51564 | Details Get a Quote |
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