SKIC2: Superkiller Complex Protein 2
A key component of the SKI complex involved in RNA exosome-mediated RNA surveillance and degradation.
Gene Information Card
| Symbol | SKIC2 |
|---|---|
| Full Name | SKI complex subunit 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.33 |
| NCBI Gene ID | 6499 ncbi.nlm.nih.gov/gene/6499 |
| Ensembl ID | ENSG00000112182 |
| UniProt ID | Q9Y2Z9 |
| OMIM ID | 600478 |
| HGNC ID | 10898 |
| Aliases | SKIV2L2, MTR4, KIAA0052 |
Description
SKIC2 encodes a component of the SKI complex, which is essential for RNA exosome-mediated degradation of aberrant RNAs. The protein is a putative RNA helicase that unwinds RNA structures to facilitate exosome access. Mutations in SKIC2 are associated with trichohepatoenteric syndrome, a rare autosomal recessive disorder characterized by intractable diarrhea, liver disease, and immune abnormalities.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Trichohepatoenteric syndrome | Loss-of-function mutations impair RNA surveillance, leading to accumulation of defective RNAs and cellular stress | OMIM #222470; PMID: 22521418 |
| Syndromic diarrhea | Defective SKI complex disrupts RNA exosome function, causing intestinal epithelial dysfunction | OMIM #614602 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Small intestine | 10.8 | Medium |
| Spleen | 9.2 | Medium |
| Testis | 8.5 | Medium |
| Kidney | 7.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.3 | Hepatocellular carcinoma cell line |
| HeLa | 11.0 | Cervical adenocarcinoma cell line |
| K562 | 9.8 | Chronic myelogenous leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2263C>T (p.Arg755*) | Nonsense | Rare | Loss of function; truncation of helicase domain |
| c.1492G>A (p.Gly498Arg) | Missense | Rare | Impaired RNA helicase activity |
Mutation functional classification
Loss of Function (LOF)
Truncating and missense mutations in SKIC2 reduce or abolish RNA helicase activity, compromising SKI complex function and RNA degradation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • RNA helicase activity | • ATP binding |
| • RNA exosome complex | • nuclear-transcribed mRNA catabolic process |
| • exonucleolytic | • cytoplasmic mRNA processing body assembly |
Pathways
• RNA exosome-mediated RNA degradation
• Ski complex-mediated RNA surveillance
Protein Summary
SKIC2 (also known as SKIV2L2 or MTR4) is a 1,022-amino acid protein containing a DExH-box helicase domain. It is a core subunit of the SKI complex, which recruits the RNA exosome to degrade aberrant RNAs. The protein localizes to both the nucleus and cytoplasm and is essential for RNA quality control.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SKIC2 Knockout HEK293 Cell Line | EDJ-KQ15270 | Human | 6499 | Details Get a Quote |
| SKIC2 Knockout HCT 116 Cell Line | EDJ-KQ45964 | Human | 6499 | Details Get a Quote |
| SKIC2 Knockout HeLa Cell Line | EDJ-KQ45965 | Human | 6499 | Details Get a Quote |
| SKIC2 Knockout A-549 Cell Line | EDJ-KQ48151 | Human | 6499 | Details Get a Quote |
