INO80
INO80 Complex Subunit
Gene Information Card
| Symbol | INO80 |
|---|---|
| Full Name | INO80 Complex Subunit |
| Gene Type | Protein coding |
| Chromosomal Location | 15q15.1 |
| NCBI Gene ID | 54617 ncbi.nlm.nih.gov/gene/54617 |
| Ensembl ID | ENSG00000128908 |
| UniProt ID | Q9ULG1 |
| OMIM ID | 610169 |
| HGNC ID | 26973 |
| Aliases | INO80A, INO80 complex subunit A, hINO80 |
Description
The INO80 gene encodes a catalytic subunit of the INO80 chromatin remodeling complex, which is involved in ATP-dependent chromatin remodeling, DNA repair, replication, and transcription regulation. It plays a critical role in maintaining genomic stability and regulating gene expression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | INO80 mutations or dysregulation may impair DNA repair and chromatin remodeling, promoting genomic instability and tumorigenesis. | COSMIC; PMID: 23431136 |
| Developmental disorders | Mutations in INO80 are associated with neurodevelopmental phenotypes, possibly due to altered chromatin dynamics during development. | ClinVar; PMID: 31036916 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Bone marrow | 10.5 | Medium |
| Lymph node | 8.3 | Low |
| Brain | 6.1 | Low |
| Liver | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 | 12.1 | Leukemia cell line |
| HeLa | 9.4 | Cervical cancer cell line |
| HEK293 | 7.8 | Embryonic kidney cell line |
| A549 | 6.5 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function; truncation |
| c.567_568del (p.Glu190fs) | Frameshift | <0.1% | Loss of function; frameshift |
| c.2345A>G (p.Tyr782Cys) | Missense | <0.1% | Unknown; potential impact on ATPase activity |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated or absent protein, impairing chromatin remodeling and DNA repair.
Gain of Function (GOF)
Not well documented; no known gain-of-function mutations reported.
Dominant Negative (DN)
Missense mutations in the ATPase domain may interfere with complex assembly or activity, potentially acting in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
| • ATP-dependent chromatin remodeling (GO:0043044) | • DNA repair (GO:0006281) |
| • DNA replication (GO:0006260) | • Transcription regulation (GO:0006355) |
| • Chromatin binding (GO:0003682) | • ATP binding (GO:0005524) |
Pathways
• Chromatin remodeling by INO80 complex (Reactome: R-HSA-201722)
• Double-strand break repair via homologous recombination (Reactome: R-HSA-5693568)
• Transcription regulation by chromatin remodeling (Reactome: R-HSA-212300)
Protein Summary
The INO80 protein is a 1557-amino acid ATPase that serves as the catalytic core of the INO80 chromatin remodeling complex. It contains a conserved helicase/ATPase domain and interacts with other subunits to remodel nucleosomes, facilitating DNA repair, replication, and transcription. Its activity is essential for genomic stability and proper gene expression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| INO80C Knockout HEK293 Cell Line | EDJ-KQ8799 | Human | 125476 | Details Get a Quote |
| INO80D Knockout HEK293 Cell Line | EDJ-KQ13842 | Human | 54891 | Details Get a Quote |
| INO80E Knockout HEK293 Cell Line | EDJ-KQ13843 | Human | 283899 | Details Get a Quote |
| INO80C Knockout A-549 Cell Line | EDJ-KQ35091 | Human | 125476 | Details Get a Quote |
| INO80C Knockout HCT 116 Cell Line | EDJ-KQ35092 | Human | 125476 | Details Get a Quote |
| INO80C Knockout HeLa Cell Line | EDJ-KQ35093 | Human | 125476 | Details Get a Quote |
| INO80D Knockout A-549 Cell Line | EDJ-KQ43676 | Human | 54891 | Details Get a Quote |
| INO80D Knockout HCT 116 Cell Line | EDJ-KQ43677 | Human | 54891 | Details Get a Quote |
| INO80D Knockout HeLa Cell Line | EDJ-KQ43678 | Human | 54891 | 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 |
