MPV17L2 Gene
Mitochondrial Inner Membrane Protein MPV17 Like 2
Gene Information Card
| Symbol | MPV17L2 |
|---|---|
| Full Name | MPV17 mitochondrial inner membrane protein like 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.2 |
| NCBI Gene ID | 84769 ncbi.nlm.nih.gov/gene/84769 |
| Ensembl ID | ENSG00000167601 |
| UniProt ID | Q9H7Z3 |
| OMIM ID | 611654 |
| HGNC ID | 28303 |
| Aliases | M-LP, M-LP2, MPV17L2 |
Description
MPV17L2 is a protein-coding gene located on chromosome 19p13.2. It encodes a mitochondrial inner membrane protein similar to MPV17. The protein is involved in mitochondrial function and maintenance of mitochondrial DNA. Mutations in this gene have been associated with mitochondrial DNA depletion syndrome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial DNA depletion syndrome 19 (MTDPS19) | Loss-of-function mutations lead to reduced mitochondrial DNA copy number and impaired oxidative phosphorylation. | OMIM #619325, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Liver | 8.2 | Low |
| Kidney | 6.1 | Low |
| Heart | 4.3 | Low |
| Brain | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 5.0 | Hepatocellular carcinoma cell line |
| K-562 | 3.2 | Chronic myelogenous leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.238C>T (p.Arg80*) | Nonsense | Rare | Loss of function; associated with MTDPS19 |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; associated with MTDPS19 |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss mutations lead to truncated or absent protein, causing mitochondrial DNA depletion.
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)
| • mitochondrion (GO:0005739) | • mitochondrial inner membrane (GO:0005743) |
| • biological_process (GO:0008150) |
Pathways
• Mitochondrial DNA maintenance
Protein Summary
MPV17L2 is a 162-amino acid protein localized to the mitochondrial inner membrane. It is involved in maintaining mitochondrial DNA integrity and copy number. The protein shares homology with MPV17, a known mitochondrial inner membrane protein. Loss of MPV17L2 function leads to mitochondrial DNA depletion syndrome.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MPV17L2 Knockout HEK293 Cell Line | EDJ-KQ10194 | Human | 84769 | Details Get a Quote |
| MPV17L2 Knockout HCT 116 Cell Line | EDJ-KQ36091 | Human | 84769 | Details Get a Quote |
| MPV17L2 Knockout A-549 Cell Line | EDJ-KQ37333 | Human | 84769 | Details Get a Quote |
| MPV17L2 Knockout HeLa Cell Line | EDJ-KQ37335 | Human | 84769 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
