ELP2 Gene - Elongator Acetyltransferase Complex Subunit 2
A key component of the Elongator complex involved in transcriptional elongation, tRNA modification, and neurodevelopment.
Gene Information Card
| Symbol | ELP2 |
|---|---|
| Full Name | Elongator Acetyltransferase Complex Subunit 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 18q12.2 |
| NCBI Gene ID | 55250 ncbi.nlm.nih.gov/gene/55250 |
| Ensembl ID | ENSG00000134762 |
| UniProt ID | Q6IA86 |
| OMIM ID | 617270 |
| HGNC ID | 18248 |
| Aliases | STATIP1, DKFZp686A0120 |
Description
ELP2 encodes a subunit of the Elongator complex, which is involved in transcriptional elongation, tRNA wobble uridine modification, and regulation of exocytosis. Mutations in ELP2 cause autosomal recessive intellectual disability and neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability, autosomal recessive 58 (MRT58) | Loss-of-function mutations impair Elongator complex assembly and tRNA modification, leading to translational defects in neurons. | OMIM #617270 |
| Neurodevelopmental disorder with microcephaly and spasticity | Biallelic ELP2 variants disrupt neuronal migration and synaptic function. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.9 | Low |
| Kidney | 6.3 | Low |
| Liver | 4.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | Neuronal model |
| HEK293 (embryonic kidney) | 10.8 | Common expression system |
| HeLa (cervical carcinoma) | 7.5 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1240C>T (p.Arg414*) | Nonsense | Rare | Loss of function; truncation of protein |
| c.1039G>A (p.Gly347Arg) | Missense | Rare | Impaired Elongator complex assembly |
| c.1666C>T (p.Arg556Trp) | Missense | Rare | Reduced tRNA modification activity |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to premature stop codons or protein truncation.
Gain of Function (GOF)
Not reported for ELP2.
Dominant Negative (DN)
Missense mutations that disrupt Elongator complex integrity may exert dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Elongator complex pathway (Reactome: R-HSA-112382)
• tRNA modification in the nucleus and cytosol (Reactome: R-HSA-6782315)
Protein Summary
ELP2 is a 97 kDa protein that forms a hexameric subcomplex with ELP1 and ELP3 within the Elongator complex. It is essential for complex stability and catalytic activity. The protein contains a WD40 repeat domain that mediates protein-protein interactions and is required for tRNA modification at the wobble position.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| No Data | ||||
