INO80E
INO80 Complex Subunit E
Gene Information Card
| Symbol | INO80E |
|---|---|
| Full Name | INO80 Complex Subunit E |
| Gene Type | Protein coding |
| Chromosomal Location | 16p11.2 |
| NCBI Gene ID | 283899 ncbi.nlm.nih.gov/gene/283899 |
| Ensembl ID | ENSG00000161960 |
| UniProt ID | Q8N5M9 |
| OMIM ID | 614562 |
| HGNC ID | 26925 |
| Aliases | C16orf53, INO80E, INO80 complex subunit E |
Description
INO80E encodes a subunit of the INO80 chromatin remodeling complex, which is involved in DNA repair, replication, and transcription regulation. The protein is a core component of the complex and is essential for its stability and function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | N/A | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 8.2 | Low |
| Spleen | 7.1 | Low |
| Bone marrow | 6.8 | Low |
| Other tissues | <5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.3 | Moderate expression |
| HeLa | 12.1 | Moderate expression |
| K562 | 9.4 | Low expression |
| HepG2 | 8.7 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | 0.01% (gnomAD) | Unknown functional impact |
| c.100C>T | Nonsense | 0.001% (gnomAD) | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations may lead to truncated protein and loss of INO80 complex function.
Gain of Function (GOF)
No evidence.
Dominant Negative (DN)
No evidence.
View complete mutation data：
Gene Ontology (GO)
| • chromatin remodeling | • DNA repair |
| • transcription regulation | • nucleosome binding |
| • ATP-dependent chromatin remodeling |
Pathways
• INO80 chromatin remodeling complex
• DNA double-strand break repair
Protein Summary
INO80E is a 45 kDa protein that contains a conserved domain essential for interaction with other INO80 complex subunits. It localizes to the nucleus and is required for efficient DNA repair and transcriptional regulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| INO80E Knockout HEK293 Cell Line | EDJ-KQ13843 | Human | 283899 | Details Get a Quote |
| INO80E Knockout A-549 Cell Line | EDJ-KQ43679 | Human | 283899 | Details Get a Quote |
| INO80E Knockout HCT 116 Cell Line | EDJ-KQ43680 | Human | 283899 | Details Get a Quote |
| INO80E Knockout HeLa Cell Line | EDJ-KQ43681 | Human | 283899 | Details Get a Quote |
