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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
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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 Variation Viewer (GRCh37.p13)

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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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

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