IMMP2L
Inner Mitochondrial Membrane Peptidase Subunit 2
Gene Information Card
| Symbol | IMMP2L |
|---|---|
| Full Name | Inner Mitochondrial Membrane Peptidase Subunit 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q31.1 |
| NCBI Gene ID | 83943 ncbi.nlm.nih.gov/gene/83943 |
| Ensembl ID | ENSG00000106031 |
| UniProt ID | Q96A72 |
| OMIM ID | 605977 |
| HGNC ID | 24096 |
| Aliases | IMP2, IMP2-like, MGC26594 |
Description
IMMP2L encodes a subunit of the inner mitochondrial membrane peptidase complex, which processes nuclear-encoded mitochondrial proteins targeted to the intermembrane space. The protein is essential for mitochondrial protein maturation and function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autism spectrum disorder | Disruption of IMMP2L may impair mitochondrial protein processing, affecting neuronal energy metabolism | Case-control studies; CNV deletions reported in ASD patients (PMID: 19012874) |
| Tourette syndrome | IMMP2L deletions or disruptions linked to altered mitochondrial function in dopaminergic neurons | Family-based studies; translocation breakpoints identified (PMID: 12809638) |
| Schizophrenia | Mitochondrial dysfunction from IMMP2L variants may contribute to synaptic deficits | GWAS and CNV analyses (PMID: 21533022) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 18.3 | Medium |
| Liver | 8.2 | Low |
| Kidney | 14.1 | Medium |
| Testis | 20.7 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | Moderate expression |
| SH-SY5Y | 22.3 | High expression (neuronal) |
| HeLa | 10.5 | Moderate expression |
| HepG2 | 9.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon; predicted loss of function |
| c.337C>T (p.Arg113*) | Nonsense | <0.01% | Premature stop; loss of function |
| Exon 2 deletion | CNV | 0.1% in ASD cohorts | Haploinsufficiency |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants leading to truncated or absent protein; CNV deletions causing haploinsufficiency.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrial inner membrane peptidase complex | • peptidase activity |
| • mitochondrial protein processing | • protein targeting to mitochondrion |
Pathways
• Mitochondrial protein import
• Inner mitochondrial membrane peptidase complex
Protein Summary
IMMP2L is a 17 kDa subunit of the inner mitochondrial membrane peptidase (IMP) complex. It forms a heterodimer with IMMP1L to cleave mitochondrial targeting signals from precursor proteins after their import into the intermembrane space. The protein is widely expressed, with highest levels in testis and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IMMP2L Knockout HEK293 Cell Line | EDJ-KQ9946 | Human | 83943 | Details Get a Quote |
| IMMP2L Knockout HeLa Cell Line | EDJ-KQ35660 | Human | 83943 | Details Get a Quote |
| IMMP2L Knockout A-549 Cell Line | EDJ-KQ36850 | Human | 83943 | Details Get a Quote |
| IMMP2L Knockout HCT 116 Cell Line | EDJ-KQ36851 | Human | 83943 | Details Get a Quote |
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