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.

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 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
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