ICE2 (Interactor of Little Elongation Complex ELL Subunit 2)
A gene encoding a component of the Little Elongation Complex (LEC) involved in transcriptional elongation of small nuclear RNAs (snRNAs).
Gene Information Card
| Symbol | ICE2 |
|---|---|
| Full Name | Interactor of Little Elongation Complex ELL Subunit 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q14 |
| NCBI Gene ID | 79664 ncbi.nlm.nih.gov/gene/79664 |
| Ensembl ID | ENSG00000137807 |
| UniProt ID | Q6P1J9 |
| OMIM ID | 617905 |
| HGNC ID | 26472 |
| Aliases | FLJ10305, KIAA1916, LEC3 |
Description
ICE2 (Interactor of Little Elongation Complex ELL Subunit 2) encodes a component of the Little Elongation Complex (LEC), which is required for efficient transcriptional elongation of RNA polymerase II on small nuclear RNA (snRNA) genes. The LEC complex includes ICE2, ICE1, ELL, and ZC3H8. ICE2 directly interacts with ELL and stabilizes the complex. It is ubiquitously expressed and plays a role in snRNA biogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with hypotonia and brain abnormalities (NEDHBA) | Loss-of-function mutations in ICE2 impair snRNA transcription, leading to defective RNA processing and neuronal dysfunction. | ClinVar, OMIM |
| Intellectual disability (unspecified) | Homozygous missense variants in ICE2 have been reported in patients with global developmental delay. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Brain (cerebellum) | 9.8 | Medium |
| Heart | 8.5 | Medium |
| Liver | 6.2 | Low |
| Lung | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.2 | Embryonic kidney cells |
| K562 | 8.7 | Leukemia cells |
| HeLa | 7.9 | Cervical carcinoma cells |
| HepG2 | 6.5 | Hepatocellular carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense (start loss) | Rare | Loss of protein expression |
| c.107C>T (p.Pro36Leu) | Missense | Rare | Impaired LEC complex formation |
| c.389G>A (p.Arg130Gln) | Missense | Rare | Reduced snRNA transcription |
Mutation functional classification
Loss of Function (LOF)
Homozygous loss-of-function mutations (e.g., start loss) cause complete loss of ICE2 protein, leading to severe neurodevelopmental phenotypes.
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)
| • nucleus (GO:0005634) | • rRNA processing (GO:0006364) |
| • mRNA processing (GO:0006397) | • snRNA transcription by RNA polymerase II (GO:0042795) |
| • little elongation complex (GO:0071035) |
Pathways
• snRNA transcription by RNA polymerase II (Reactome: R-HSA-6807505)
• Little elongation complex (LEC) pathway
Protein Summary
ICE2 encodes a 789-amino acid protein (UniProt Q6P1J9) that localizes to the nucleus and is a core component of the Little Elongation Complex (LEC). The LEC promotes efficient elongation of RNA polymerase II on snRNA genes. ICE2 interacts with ELL and ICE1 to stabilize the complex. Mutations in ICE2 cause neurodevelopmental disorders due to defective snRNA biogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ICE2 Knockout HEK293 Cell Line | EDJ-KQ13797 | Human | 79664 | Details Get a Quote |
| ICE2 Knockout HCT 116 Cell Line | EDJ-KQ43592 | Human | 79664 | Details Get a Quote |
| ICE2 Knockout HeLa Cell Line | EDJ-KQ43593 | Human | 79664 | Details Get a Quote |
| ICE2 Knockout A-549 Cell Line | EDJ-KQ65715 | Human | 79664 | Details Get a Quote |
