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    MTCH2 mitochondrial carrier 2 [ Homo sapiens (human) ]

    Gene ID: 23788, updated on 7-Apr-2024

    Summary

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    Official Symbol
    MTCH2provided by HGNC
    Official Full Name
    mitochondrial carrier 2provided by HGNC
    Primary source
    HGNC:HGNC:17587
    See related
    Ensembl:ENSG00000109919 MIM:613221; AllianceGenome:HGNC:17587
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MIMP; HSPC032; SLC25A50
    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 kidney (RPKM 24.0), testis (RPKM 21.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MTCH2 in Genome Data Viewer
    Location:
    11p11.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (47604317..47642559, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (47764706..47807519, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (47638869..47664111, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene MPRA-validated peak1274 silencer Neighboring gene MPRA-validated peak1275 silencer Neighboring gene family with sequence similarity 180 member B Neighboring gene C1q and TNF related 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4701 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3336 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3337 Neighboring gene AGBL carboxypeptidase 2 Neighboring gene Sharpr-MPRA regulatory region 12296 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4702 Neighboring gene formin binding protein 4 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:47787258-47788183 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:47788184-47789108

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. The modified mitochondrial outer membrane carrier MTCH2 links mitochondrial fusion to lipogenesis. Labbé K, et al. J Cell Biol, 2021 Nov 1. PMID 34586346, Free PMC Article
    2. Inhibition of mitochondrial carrier homolog 2 (MTCH2) suppresses tumor invasion and enhances sensitivity to temozolomide in malignant glioma. Yuan Q, et al. Mol Med, 2021 Jan 28. PMID 33509092, Free PMC Article
    3. Stop codon read-through of mammalian MTCH2 leading to an unstable isoform regulates mitochondrial membrane potential. Manjunath LE, et al. J Biol Chem, 2020 Dec 11. PMID 33028634, Free PMC Article
    4. Mitochondrial carrier homolog 2 is necessary for AML survival. Khan DH, et al. Blood, 2020 Jul 2. PMID 32299104
    5. Cardiolipin or MTCH2 can serve as tBID receptors during apoptosis. Raemy E, et al. Cell Death Differ, 2016 Jul. PMID 26794447, Free PMC Article

    See all (129) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The biology of mitochondrial carrier homolog 2.
      Title: The biology of mitochondrial carrier homolog 2.
    2. MTCH2 cooperates with MFN2 and lysophosphatidic acid synthesis to sustain mitochondrial fusion.
      Title: MTCH2 cooperates with MFN2 and lysophosphatidic acid synthesis to sustain mitochondrial fusion.
    3. Opposing effects of genetic variation in MTCH2 for obesity versus heart failure.
      Title: Opposing effects of genetic variation in MTCH2 for obesity versus heart failure.
    4. The modified mitochondrial outer membrane carrier MTCH2 links mitochondrial fusion to lipogenesis.
      Title: The modified mitochondrial outer membrane carrier MTCH2 links mitochondrial fusion to lipogenesis.
    5. Inhibition of mitochondrial carrier homolog 2 (MTCH2) suppresses tumor invasion and enhances sensitivity to temozolomide in malignant glioma.
      Title: Inhibition of mitochondrial carrier homolog 2 (MTCH2) suppresses tumor invasion and enhances sensitivity to temozolomide in malignant glioma.
    6. MARCH5 requires MTCH2 to coordinate proteasomal turnover of the MCL1:NOXA complex.
      Title: MARCH5 requires MTCH2 to coordinate proteasomal turnover of the MCL1:NOXA complex.
    7. Stop codon read-through of mammalian MTCH2 leading to an unstable isoform regulates mitochondrial membrane potential.
      Title: Stop codon read-through of mammalian MTCH2 leading to an unstable isoform regulates mitochondrial membrane potential.
    8. Mitochondrial carrier homolog 2 is necessary for AML survival.
      Title: Mitochondrial carrier homolog 2 is necessary for AML survival.
    9. study identified Cav1 and MTCH2 as the molecular targets of DHA and revealed a new link between the upstream Cav1/MTCH2 upregulation and the downstream activation of the cell death pathway involved in the DHA-mediated inhibition of cell viability.
      Title: Dihydroartemisinin inhibits the viability of cervical cancer cells by upregulating caveolin 1 and mitochondrial carrier homolog 2: Involvement of p53 activation and NAD(P)H:quinone oxidoreductase 1 downregulation.
    10. MTCH2 and cardiolipin participate in the recruitment and integration of tBID into the mitochondrial outer membrane.
      Title: Cardiolipin or MTCH2 can serve as tBID receptors during apoptosis.
    Submit: New GeneRIF Correction See all GeneRIFs (24)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
    EBI GWAS Catalog
    Six new loci associated with body mass index highlight a neuronal influence on body weight regulation.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr HIV-1 Vpr is identified to have a physical interaction with mitochondrial carrier 2 (MTCH2) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables membrane insertase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in lipid homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of stem cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein insertion into mitochondrial outer membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within protein localization to mitochondrion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of mitochondrial fusion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane HDA PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in mitochondrial outer membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus HDA PubMed 

    General protein information

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    Preferred Names
    mitochondrial carrier homolog 2
    Names
    2310034D24Rik
    met-induced mitochondrial protein
    solute carrier family 25, member 50

    NCBI Reference Sequences (RefSeq)

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    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_001317231.2 → NP_001304160.1  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)
      AC104942, AK313032, AY380792
      UniProtKB/TrEMBL
      Q53G34
      Conserved Domains (1) summary
      pfam00153
      Location:128 → 192
      Mito_carr; Mitochondrial carrier protein

    2. NM_001317232.2 → NP_001304161.1  mitochondrial carrier homolog 2 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame coding exon in the 5' region compared to variant 1. The resulting isoform (2) is shorter, missing an internal protein segment compared to isoform 1.
      Source sequence(s)
      AC104942, AK313032, AY380792, BQ960010
      UniProtKB/TrEMBL
      E9PIE4, Q53G34
      Related
      ENSP00000432043.2, ENST00000530428.2
      Conserved Domains (1) summary
      pfam00153
      Location:119 → 183
      Mito_carr; Mitochondrial carrier protein

    3. NM_001317233.2 → NP_001304162.1  mitochondrial carrier homolog 2 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an exon in the 5' region, which results in translation initiation from an in-frame, downstream start codon compared to variant 1. The encoded isoform (3) has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AC104942, AK295218, AK313032, AY380792
      UniProtKB/TrEMBL
      B4DHQ0
      Conserved Domains (1) summary
      pfam00153
      Location:1 → 44
      Mito_carr; Mitochondrial carrier protein

    4. NM_014342.4 → NP_055157.1  mitochondrial carrier homolog 2 isoform 1

      See identical proteins and their annotated locations for NP_055157.1

      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)
      AC104942, AK313032, AY380792
      Consensus CDS
      CCDS7943.1
      UniProtKB/Swiss-Prot
      B2R7L8, Q9Y6C9
      UniProtKB/TrEMBL
      Q53G34
      Related
      ENSP00000303222.3, ENST00000302503.8
      Conserved Domains (1) summary
      pfam00153
      Location:128 → 192
      Mito_carr; Mitochondrial carrier protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      47604317..47642559 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047426700.1 → XP_047282656.1  mitochondrial carrier homolog 2 isoform X6

    2. XM_011519960.4 → XP_011518262.1  mitochondrial carrier homolog 2 isoform X2

      UniProtKB/TrEMBL
      Q53G34
      Conserved Domains (1) summary
      pfam00153
      Location:119 → 183
      Mito_carr; Mitochondrial carrier protein

    3. XM_011519961.3 → XP_011518263.1  mitochondrial carrier homolog 2 isoform X3

      UniProtKB/TrEMBL
      Q53G34
      Conserved Domains (1) summary
      pfam00153
      Location:128 → 192
      Mito_carr; Mitochondrial carrier protein

    4. XM_011519959.3 → XP_011518261.1  mitochondrial carrier homolog 2 isoform X1

      UniProtKB/TrEMBL
      Q53G34
      Conserved Domains (1) summary
      pfam00153
      Location:128 → 192
      Mito_carr; Mitochondrial carrier protein

    5. XM_047426701.1 → XP_047282657.1  mitochondrial carrier homolog 2 isoform X7

    6. XM_017017462.3 → XP_016872951.1  mitochondrial carrier homolog 2 isoform X5

    7. XM_006718172.3 → XP_006718235.1  mitochondrial carrier homolog 2 isoform X4

      See identical proteins and their annotated locations for XP_006718235.1

      UniProtKB/TrEMBL
      Q53G34
      Conserved Domains (1) summary
      pfam00153
      Location:128 → 192
      Mito_carr; Mitochondrial carrier protein

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_019805496.1 Reference GRCh38.p14 PATCHES

      Range
      32135..74925 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332416.1 → XP_054188391.1  mitochondrial carrier homolog 2 isoform X2

    2. XM_054332417.1 → XP_054188392.1  mitochondrial carrier homolog 2 isoform X3

    3. XM_054332415.1 → XP_054188390.1  mitochondrial carrier homolog 2 isoform X1

    4. XM_054332420.1 → XP_054188395.1  mitochondrial carrier homolog 2 isoform X6

    5. XM_054332419.1 → XP_054188394.1  mitochondrial carrier homolog 2 isoform X5

    6. XM_054332418.1 → XP_054188393.1  mitochondrial carrier homolog 2 isoform X4

    7. XM_054332421.1 → XP_054188396.1  mitochondrial carrier homolog 2 isoform X7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      47764706..47807519 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054368274.1 → XP_054224249.1  mitochondrial carrier homolog 2 isoform X2

    2. XM_054368275.1 → XP_054224250.1  mitochondrial carrier homolog 2 isoform X3

    3. XM_054368273.1 → XP_054224248.1  mitochondrial carrier homolog 2 isoform X1

    4. XM_054368278.1 → XP_054224253.1  mitochondrial carrier homolog 2 isoform X6

    5. XM_054368277.1 → XP_054224252.1  mitochondrial carrier homolog 2 isoform X5

    6. XM_054368276.1 → XP_054224251.1  mitochondrial carrier homolog 2 isoform X4

    7. XM_054368279.1 → XP_054224254.1  mitochondrial carrier homolog 2 isoform X7

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y6C9.1 GenPept UniProtKB/Swiss-Prot:Q9Y6C9

    Gene LinkOut

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