MTCH2

Gene Information
 
Gene Symbol
MTCH2
 
Aliases
HSPC032, MIMP, SLC25A50
 
Entrez Gene ID
 
Gene Name
Mitochondrial carrier 2
 
Chromosomal Location
11p11.2
 
HGNC ID
 
Summary
This gene encodes a member of the SLC25 family of nuclear-encoded transporters that are localized in the inner mitochondrial membrane. Members of this superfamily are involved in many metabolic pathways and cell functions. Genome-wide association studies in human have identified single-nucleotide polymorphisms in several loci associated with obesity. This gene is one such locus, which is highly expressed in white adipose tissue and adipocytes, and thought to play a regulatory role in adipocyte differentiation and biology. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A recent study showed this gene to be an authentic stop codon readthrough target that can produce two isoforms from the same mRNA by use of alternative in-frame translation termination codons. [provided by RefSeq, Dec 2017]
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Function Evidence Reference
GO:0043065 Biological process Positive regulation of apoptotic process IBA 21873635
GO:0070585 Biological process Protein localization to mitochondrion IMP 23744079
GO:0005634 Cellular component Nucleus HDA 21630459
GO:0005739 Cellular component Mitochondrion IBA 21873635
GO:0016020 Cellular component Membrane HDA 19946888
Protein Information
 
Protein Name
Mitochondrial carrier homolog 2, 2310034D24Rik, met-induced mitochondrial protein, solute carrier family 25, member 50
 
Function
The substrate transported is not yet known. Induces mitochondrial depolarization
 
UniProt
 
Pfam
Pfam Accession Pfam ID
PF00153 Mito_carr
     

Associated Diseases

Disease groupDisease NameReferences
Endocrine System Diseases
PCOS
Nutritional and Metabolic Diseases
Obesity
References
 
 
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
 
PCOS, Obesity 
rs10838738 
Rotterdam Criteria 
Indirect 
249 PCOS Patient and 299 Control 
NA 

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