INO80D
INO80 Complex Subunit D
Gene Information Card
| Symbol | INO80D |
|---|---|
| Full Name | INO80 Complex Subunit D |
| Gene Type | Protein coding |
| Chromosomal Location | 2q33.3 |
| NCBI Gene ID | 54891 ncbi.nlm.nih.gov/gene/54891 |
| Ensembl ID | ENSG00000115234 |
| UniProt ID | Q9H1H9 |
| OMIM ID | 615791 |
| HGNC ID | 26959 |
| Aliases | FLJ20309, INO80D, INO80 complex subunit D |
Description
INO80D is a protein-coding gene that encodes a subunit of the INO80 chromatin remodeling complex. The INO80 complex is involved in ATP-dependent chromatin remodeling, DNA repair, and transcriptional regulation. INO80D is thought to play a role in the assembly and stability of the complex, and its expression is associated with various cellular processes including cell cycle progression and response to DNA damage.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Altered expression of INO80D may contribute to chromatin remodeling dysregulation in tumorigenesis. | COSMIC database reports mutations in various cancers. |
| Breast cancer | Overexpression of INO80D has been observed in breast cancer cell lines, potentially affecting DNA repair pathways. | NCBI Gene and literature references. |
| Colorectal cancer | Mutations in INO80D have been identified in colorectal cancer samples, suggesting a role in tumor progression. | COSMIC database. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Bone marrow | 8.7 | Low |
| Lymph node | 7.5 | Low |
| Brain | 5.2 | Low |
| Liver | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.5 | Cervical cancer cell line |
| MCF7 | 9.8 | Breast cancer cell line |
| HEK293 | 8.2 | Embryonic kidney cell line |
| K562 | 7.1 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | 0.02% | Loss of function |
| c.567G>A (p.Glu189Lys) | Missense | 0.01% | Unknown |
| c.890_891insA (p.Asn297Lysfs*5) | Frameshift | 0.005% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations are predicted to result in truncated or non-functional protein, impairing INO80 complex activity.
Gain of Function (GOF)
No gain-of-function mutations have been reported for INO80D.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for INO80D.
View complete mutation data：
Gene Ontology (GO)
| • chromatin remodeling | • DNA repair |
| • transcription regulation | • ATP-dependent chromatin remodeling |
| • nucleosome disassembly |
Pathways
• Chromatin remodeling by INO80 complex
• DNA double-strand break repair
• Transcriptional regulation by chromatin remodeling
Protein Summary
INO80D is a 617-amino acid protein that contains a conserved domain of unknown function (DUF). It is a component of the INO80 chromatin remodeling complex, which uses ATP to slide, eject, or restructure nucleosomes. INO80D is essential for complex integrity and may mediate interactions with other proteins or DNA. The protein is localized to the nucleus and is expressed in multiple tissues, with highest levels in testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| INO80D Knockout HEK293 Cell Line | EDJ-KQ13842 | Human | 54891 | 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 |
