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

Gene ID: 56428, updated on 27-Nov-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
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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)

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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