INO80C
INO80 Complex Subunit C
Gene Information Card
| Symbol | INO80C |
|---|---|
| Full Name | INO80 Complex Subunit C |
| Gene Type | protein-coding |
| Chromosomal Location | 18q12.3 |
| NCBI Gene ID | 125476 ncbi.nlm.nih.gov/gene/125476 |
| Ensembl ID | ENSG00000168394 |
| UniProt ID | Q6P4E1 |
| OMIM ID | 615792 |
| HGNC ID | 26959 |
| Aliases | INO80C, FLJ20309, hIes6, IES6 |
Description
INO80C encodes a subunit of the INO80 chromatin remodeling complex, which is involved in DNA repair, replication, and transcriptional regulation. The protein is a core component of the complex and is essential for its stability and ATPase activity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Altered INO80 complex function may disrupt chromatin remodeling, affecting DNA repair and gene expression, contributing to tumorigenesis. | COSMIC mutation data |
| Developmental disorders | Mutations in INO80 complex subunits are linked to neurodevelopmental phenotypes; specific INO80C variants are rare. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.2 | Low |
| Brain | 6.1 | Low |
| Liver | 5.3 | Low |
| Kidney | 4.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | Moderate expression |
| HeLa | 8.7 | Moderate expression |
| K562 | 7.3 | Low expression |
| A549 | 6.8 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Potential loss of start codon; likely loss of function |
| c.100C>T (p.Arg34Trp) | missense | <0.01% | Unknown significance; rare in population |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants may disrupt protein folding or complex assembly, reducing INO80 activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data:
Gene Ontology (GO)
| • chromatin remodeling | • DNA repair |
| • ATP-dependent chromatin remodeling | • nucleosome disassembly |
| • regulation of transcription by RNA polymerase II |
Pathways
• INO80 chromatin remodeling complex
• DNA double-strand break repair via homologous recombination
Protein Summary
INO80C is a 219-amino acid protein that contains a conserved IES6 domain. It is a structural component of the INO80 complex, which uses ATP to remodel nucleosomes, facilitating DNA access for repair and transcription. The protein is ubiquitously expressed at low to moderate levels.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| INO80C Knockout HEK293 Cell Line | EDJ-KQ8799 | Human | 125476 | 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 |