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    Mtch2 mitochondrial carrier 2 [ Mus musculus (house mouse) ]

    Gene ID: 56428, updated on 9-Dec-2024

    Summary

    Official Symbol
    Mtch2provided by MGI
    Official Full Name
    mitochondrial carrier 2provided by MGI
    Primary source
    MGI:MGI:1929260
    See related
    Ensembl:ENSMUSG00000027282 AllianceGenome:MGI:1929260
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    HSPC032; 2310034D24Rik; 4930539J07Rik
    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]
    Expression
    Ubiquitous expression in testis adult (RPKM 96.2), large intestine adult (RPKM 54.2) and 27 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Mtch2 in Genome Data Viewer
    Location:
    2 E1; 2 50.41 cM
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (90677434..90697154)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (90847090..90866810)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene ribosomal protein L30, pseudogene 3 Neighboring gene formin binding protein 4 Neighboring gene ATP/GTP binding protein-like 2 Neighboring gene STARR-seq mESC enhancer starr_05097 Neighboring gene predicted gene 13772 Neighboring gene STARR-seq mESC enhancer starr_05098 Neighboring gene STARR-positive B cell enhancer ABC_E11147 Neighboring gene STARR-positive B cell enhancer ABC_E9517 Neighboring gene C1q and tumor necrosis factor related protein 4 Neighboring gene predicted gene, 32514

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (4) 
    • Gene trapped (1) 
    • Targeted (5)  1 citation

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables membrane insertase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables membrane insertase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within cellular response to radiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within establishment of protein localization to mitochondrial membrane involved in mitochondrial fission IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within hematopoietic stem cell homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within hematopoietic stem cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within hepatocyte apoptotic process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within lactate metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in lipid homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within mitochondrial ATP synthesis coupled electron transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of glycolytic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of mitochondrial membrane potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of cysteine-type endopeptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of stem cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein insertion into mitochondrial outer membrane ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein insertion into mitochondrial outer membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within protein localization to mitochondrion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within protein localization to mitochondrion ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of mitochondrial fusion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within regulation of mitochondrial membrane permeability involved in apoptotic process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrial inner membrane HDA PubMed 
    located_in mitochondrial outer membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in mitochondrial outer membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in mitochondrion HDA PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    mitochondrial carrier homolog 2
    Names
    met-induced mitochondrial protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001317241.1NP_001304170.1  mitochondrial carrier homolog 2 isoform 1x

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript and encodes two isoforms, which result from the use of alternative in-frame translation termination codons. The shorter isoform (1) results from translation termination at the upstream UGA stop codon, while the longer isoform (1x) results from UGA stop codon readthrough to the downstream UAG termination codon. This RefSeq represents the longer, C-terminally extended isoform (1x). As the UGA stop codon has been reported to specify several alternative amino acids (tryptophan, cysteine, arginine and serine), its location in the longer isoform is denoted by an 'X'.
      Source sequence(s)
      AK008712, AK164169
      UniProtKB/TrEMBL
      Q3UA17
      Conserved Domains (1) summary
      pfam00153
      Location:128192
      Mito_carr; Mitochondrial carrier protein
    2. NM_001317242.1NP_001304171.1  mitochondrial carrier homolog 2 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame acceptor splice site at an internal coding exon compared to variant 1. The resulting isoform (2) is longer containing a 9 aa protein segment not found in isoform 1.
      Source sequence(s)
      AK008712, AK011814, AK164169
      Consensus CDS
      CCDS84547.1
      UniProtKB/TrEMBL
      Q3UA17, Q9D050
      Related
      ENSMUSP00000118566.2, ENSMUST00000150232.8
      Conserved Domains (1) summary
      pfam00153
      Location:137201
      Mito_carr; Mitochondrial carrier protein
    3. NM_001317243.1NP_001304172.1  mitochondrial carrier homolog 2 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an in-frame coding exon compared to variant 1. The resulting isoform (3) is shorter missing an internal 9 aa protein segment compared to isoform 1.
      Source sequence(s)
      AK008712, AK164169, CX243013
      Consensus CDS
      CCDS84548.1
      UniProtKB/TrEMBL
      A2AFW6, Q3UA17
      Related
      ENSMUSP00000107092.4, ENSMUST00000111467.4
      Conserved Domains (1) summary
      pfam00153
      Location:119183
      Mito_carr; Mitochondrial carrier protein
    4. NM_001317244.1NP_001304173.1  mitochondrial carrier homolog 2 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate acceptor splice site at an internal exon, which results in translation initiation from an in-frame, downstream start codon compared to variant 1. The encoded isoform (4) has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AK007757, AK008712, AK164169
      UniProtKB/Swiss-Prot
      Q791V5
      Conserved Domains (1) summary
      pfam00153
      Location:165
      Mito_carr; Mitochondrial carrier protein
    5. NM_019758.3NP_062732.1  mitochondrial carrier homolog 2 isoform 1

      See identical proteins and their annotated locations for NP_062732.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript and encodes two isoforms, which result from the use of alternative in-frame translation termination codons. The shorter isoform (1) results from translation termination at the upstream UGA stop codon, while the longer isoform (1x) results from UGA stop codon readthrough to the downstream UAG termination codon. This RefSeq represents the shorter isoform (1).
      Source sequence(s)
      AK008712, AK164169
      Consensus CDS
      CCDS16416.1
      UniProtKB/Swiss-Prot
      Q3TPS5, Q791V5, Q99LZ6, Q9D060, Q9D7Y2, Q9QZP3
      UniProtKB/TrEMBL
      Q3UA17
      Related
      ENSMUSP00000121851.2, ENSMUST00000136872.8
      Conserved Domains (1) summary
      pfam00153
      Location:128192
      Mito_carr; Mitochondrial carrier protein

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000068.8 Reference GRCm39 C57BL/6J

      Range
      90677434..90697154
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017319137.2XP_017174626.1  mitochondrial carrier homolog 2 isoform X1

      Related
      ENSMUST00000057216.15
      Conserved Domains (1) summary
      pfam00153
      Location:165
      Mito_carr; Mitochondrial carrier protein