ASCC2: Activating Signal Cointegrator 1 Complex Subunit 2
A key component of the ASC-1 transcriptional coactivator complex involved in DNA repair and ribosome quality control.
Gene Information Card
| Symbol | ASCC2 |
|---|---|
| Full Name | Activating Signal Cointegrator 1 Complex Subunit 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 22q12.2 |
| NCBI Gene ID | 84164 ncbi.nlm.nih.gov/gene/84164 |
| Ensembl ID | ENSG00000100393 |
| UniProt ID | Q9H1I8 |
| OMIM ID | 614215 |
| HGNC ID | 24287 |
| Aliases | ASC1p100, p100, CGI-59, HSPC133 |
Description
ASCC2 (Activating Signal Cointegrator 1 Complex Subunit 2) encodes a component of the ASC-1 complex, which functions as a transcriptional coactivator and is involved in DNA repair and ribosome quality control. The protein contains a CUE domain that binds ubiquitin, facilitating its role in the ubiquitin-proteasome pathway and DNA damage response. ASCC2 is essential for the repair of alkylation damage and for resolving stalled ribosomes during translation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered expression and potential role in DNA repair deficiency | COSMIC; PMID: 23535732 |
| Colorectal cancer | Somatic mutations and copy number alterations | COSMIC; PMID: 26689913 |
| Lung adenocarcinoma | Overexpression linked to poor prognosis | COSMIC; PMID: 28112733 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 8.3 | Low |
| Brain | 6.1 | Low |
| Liver | 5.4 | Low |
| Kidney | 4.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression in embryonic kidney cells |
| HeLa | 10.8 | Moderate expression in cervical cancer cells |
| MCF7 | 7.3 | Low expression in breast cancer cells |
| A549 | 6.5 | Low expression in lung cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1072C>T (p.Arg358Trp) | Missense | 0.02% (gnomAD) | Unknown functional impact |
| c.1435G>A (p.Gly479Arg) | Missense | 0.01% (gnomAD) | Predicted damaging by SIFT |
| c.1861_1862insA (p.Thr621Asnfs*2) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations in ASCC2 are predicted to cause loss of function, impairing DNA repair and ribosome quality control.
Gain of Function (GOF)
No gain-of-function mutations have been reported for ASCC2.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for ASCC2.
View complete mutation data：
Gene Ontology (GO)
Pathways
• ASC-1 complex mediated transcriptional coactivation
• Ubiquitin-dependent DNA damage response
• Ribosome quality control (RQC)
Protein Summary
ASCC2 is a 787-amino acid protein (UniProt Q9H1I8) that contains a CUE domain at the C-terminus, which binds monoubiquitin and polyubiquitin chains. It is a core subunit of the ASC-1 complex, which also includes ASCC1, ASCC3, and TRIP4. The complex is involved in transcriptional coactivation, DNA repair (particularly alkylation damage repair via the ALKBH3 pathway), and ribosome-associated quality control. ASCC2 localizes to both the nucleus and cytoplasm, and its expression is ubiquitous with higher levels in testis and lymphoid tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ASCC2 Knockout HEK293 Cell Line | EDJ-KQ2723 | Human | 84164 | Details Get a Quote |
| ASCC2 Knockout HeLa Cell Line | EDJ-KQ18218 | Human | 84164 | Details Get a Quote |
| ASCC2 Knockout A-549 Cell Line | EDJ-KQ23577 | Human | 84164 | Details Get a Quote |
| ASCC2 Knockout HCT 116 Cell Line | EDJ-KQ23578 | Human | 84164 | Details Get a Quote |
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