Information on INO80
Basic details
Alt. symbols: INOC1 | KIAA1259 | hINO80 | INO80A
Approved name: INO80 complex ATPase subunit
Alt. names: INO80 complex homolog 1 (S. cerevisiae), INO80 homolog (S. cerevisiae) | INO80 complex subunit A
Location: 15q15.1: 40978880 - 41116280 (-)
Gene type: protein_coding, 17 transcripts.
Scores: LoFtool: 0.016700 | pLI: 1.00000000 | LOEUF: 0.081
Normal function
This gene encodes the ATPase component of the chromatin remodeling INO80 complex, which is involved in transcriptional regulation, DNA replication and DNA repair, such as UV-damage excision DNA repair. However, the contribution to DNA double-strand break repair appears to be largely indirect through transcriptional regulation. As part of the INO80 complex, this protein binds DNA and remodels chromatin by shifting nucleosomes. It regulates transcription upon recruitment by YY1 to YY1-activated genes, where it acts as an essential coactivator. It is also required for microtubule assembly during mitosis thereby regulating chromosome segregation cycle.
Dysfunction and disease
To our knowledge, only 2 patients have been reported in the literature thus far (PMID:25312759). Both patients showed class-switch recombination defects and were found to carry compound heterozygous missense variants. Patient 1 carried p.D145N and p.V1108G and Patient 2: p.V1108G and p.A2644G. Heterozygous parents were not affected. Both patients had markedly reduced switched memory B cells and low levels of immunoglobulins of all isotypes (P2, 67-year-old) or only IgA and IgG (P1, 5-year-old). Expression of wild-type INO80 in patients’ fibroblastic cells corrected their hypersensitivity to high doses of gamma-irradiation. [Load More]
[Reviewed by Andrés Caballero-Oteyza on 2021-05-26 12:23:41]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
HIGM4 |
INO80 deficiency | AR |
- | 0 (0 fams) |
Please mind that full curation (inclusion of all published patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of INO80
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 204 | ENST00000558357.6 | nonsense_mediated_decay | No | 6041 | XM_011521685 | ||||
| 211 | ENST00000648947.1 | 1 | CCDS10071 | Select | protein_coding | 36 | Yes | 6365 | NM_017553 |
Published variants
Found 0 variants
| Var.name | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|
Please mind that full curation (inclusion of all published variants) of this gene has not started yet. Please contact us if you want to volunteer.
Diagnostic pitfalls & paradigms
Considerations to take into account when analyzing this gene
| Year | Paradigm ⓘ | PMID | Notes |
|---|---|---|---|
| - | Regions of Homology | - | |
| - | Cryptic splicing | - | Unreported or not recorded in our DB. |
| - | Uniparental disomy | - | Unreported or not recorded in our DB. |
| - | Mosaicism | - | Unreported or not recorded in our DB. |
| - | Incomplete penetrance | - | Unreported or not recorded in our DB. |
| - | Di-/oligo-genic inheritance | - | Unreported or not recorded in our DB. |
| - | Somatic reversion | - | Unreported or not recorded in our DB. |
References linked to variants in INO80
| ID | Year | Title | Journal | PMID | Variants |
|---|