MTCH2: Mitochondrial Carrier Homolog 2
A key regulator of mitochondrial apoptosis and metabolism
Gene Information Card
| Symbol | MTCH2 |
|---|---|
| Full Name | Mitochondrial Carrier Homolog 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 11p11.2 |
| NCBI Gene ID | 23788 ncbi.nlm.nih.gov/gene/23788 |
| Ensembl ID | ENSG00000109919 |
| UniProt ID | Q9Y6C9 |
| OMIM ID | 613704 |
| HGNC ID | 18132 |
| Aliases | MIMP, SLC25A50, HSPC032 |
Description
MTCH2 (Mitochondrial Carrier Homolog 2) encodes a mitochondrial outer membrane protein that belongs to the mitochondrial carrier family. It functions as a receptor for the pro-apoptotic BID protein, facilitating mitochondrial outer membrane permeabilization during apoptosis. MTCH2 also plays roles in mitochondrial metabolism, lipid homeostasis, and cell survival. The gene is located on chromosome 11p11.2 and is widely expressed across tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | MTCH2 overexpression or altered expression may modulate apoptosis sensitivity via BID recruitment to mitochondria | COSMIC, NCBI Gene |
| Metabolic disorders | MTCH2 influences mitochondrial lipid metabolism and energy balance; variants associated with obesity traits | OMIM 613704, NCBI Gene |
| Apoptosis-related pathologies | Dysregulation of MTCH2-mediated BID insertion affects cell death in neurodegenerative and ischemic conditions | UniProt Q9Y6C9, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Heart | 8.3 | Medium |
| Brain | 6.1 | Low |
| Kidney | 10.2 | Medium |
| Skeletal Muscle | 7.8 | Medium |
| Adipose Tissue | 9.4 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 11.2 | Cervical cancer cell line |
| HepG2 | 13.0 | Hepatocellular carcinoma cell line |
| K562 | 7.5 | Leukemia cell line |
| A549 | 9.8 | Lung carcinoma cell line |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Likely loss of start codon; predicted loss of function |
| c.287C>T (p.Pro96Leu) | Missense | Rare | Unknown significance; not reported in ClinVar |
| c.634G>A (p.Gly212Arg) | Missense | Rare | Unknown significance; not reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC for MTCH2.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data:
Gene Ontology (GO)
| • GO:0005739 - mitochondrion | • GO:0005741 - mitochondrial outer membrane |
| • GO:0016021 - integral component of membrane | • GO:0006915 - apoptotic process |
| • GO:0032869 - cellular response to insulin stimulus | • GO:0006629 - lipid metabolic process |
Pathways
• Intrinsic apoptotic pathway (BID-mediated mitochondrial outer membrane permeabilization)
• Insulin signaling pathway (modulation of mitochondrial metabolism)
Protein Summary
MTCH2 is a 33 kDa mitochondrial outer membrane protein with a single transmembrane domain. It acts as a receptor for the pro-apoptotic protein tBID, promoting mitochondrial outer membrane permeabilization and cytochrome c release. Additionally, MTCH2 is involved in mitochondrial lipid transport and metabolic regulation, linking apoptosis to cellular energy homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MTCH2 Knockout HEK293 Cell Line | EDC07966 | Human | 23788 | Details Get a Quote |
| MTCH2 Knockout HeLa Cell Line | EDJ-KQ20971 | Human | 23788 | Details Get a Quote |
| MTCH2 Knockout A-549 Cell Line | EDJ-KQ22273 | Human | 23788 | Details Get a Quote |
| MTCH2 Knockout HCT 116 Cell Line | EDJ-KQ22274 | Human | 23788 | Details Get a Quote |
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