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    MPC2 mitochondrial pyruvate carrier 2 [ Homo sapiens (human) ]

    Gene ID: 25874, updated on 2-Nov-2024

    Summary

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    Official Symbol
    MPC2provided by HGNC
    Official Full Name
    mitochondrial pyruvate carrier 2provided by HGNC
    Primary source
    HGNC:HGNC:24515
    See related
    Ensembl:ENSG00000143158 MIM:614737; AllianceGenome:HGNC:24515
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BRP44; SLC54A2
    Summary
    Enables identical protein binding activity. Involved in mitochondrial pyruvate transmembrane transport. Located in mitochondrial inner membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in kidney (RPKM 34.8), liver (RPKM 32.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MPC2 in Genome Data Viewer
    Location:
    1q24.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (167916675..167937072, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (167268139..167288538, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (167885913..167906310, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1535 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:167691547-167692047 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:167697263-167697762 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2053 Neighboring gene myelin protein zero like 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:167739237-167739808 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:167740743-167741244 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:167761820-167761968 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1538 Neighboring gene adenylate cyclase 10 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:167830579-167831095 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:167831096-167831613 Neighboring gene Sharpr-MPRA regulatory region 4419 Neighboring gene DDB1 and CUL4 associated factor 6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:167882400-167883076 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:167883077-167883753 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2054 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1539 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2055 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1540 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1541 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:167956130-167957329 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2056 Neighboring gene microRNA 1255b-2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:168025104-168025604 Neighboring gene GCSH pseudogene 5

    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 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. MPC2 variants disrupt mitochondrial pyruvate metabolism and cause an early-onset mitochondriopathy. Pujol C, et al. Brain, 2023 Mar 1. PMID 36417180, Free PMC Article
    2. Lack of association between MPC2 variants and schizophrenia in a replication study of Han Chinese. Jin C, et al. Neurosci Lett, 2013 Sep 27. PMID 23933155
    3. Association of NKAPL, TSPAN18, and MPC2 gene variants with schizophrenia based on new data and a meta-analysis in Han Chinese. Li Z, et al. Acta Neuropsychiatr, 2017 Apr. PMID 27460766
    4. Decreased Expression of MPC2 Contributes to Aerobic Glycolysis and Colorectal Cancer Proliferation by Activating mTOR Pathway. Kuerbanjiang M, et al. J Immunol Res, 2021. PMID 33791391, Free PMC Article
    5. Hypoxia induces lactate secretion and glycolytic efflux by downregulating mitochondrial pyruvate carrier levels in human umbilical vein endothelial cells. Wang D, et al. Mol Med Rep, 2018 Aug. PMID 29845198

    See all (61) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MPC2 variants disrupt mitochondrial pyruvate metabolism and cause an early-onset mitochondriopathy.
      Title: MPC2 variants disrupt mitochondrial pyruvate metabolism and cause an early-onset mitochondriopathy.
    2. Structural Insights into the Human Mitochondrial Pyruvate Carrier Complexes.
      Title: Structural Insights into the Human Mitochondrial Pyruvate Carrier Complexes.
    3. Decreased Expression of MPC2 Contributes to Aerobic Glycolysis and Colorectal Cancer Proliferation by Activating mTOR Pathway.
      Title: Decreased Expression of MPC2 Contributes to Aerobic Glycolysis and Colorectal Cancer Proliferation by Activating mTOR Pathway.
    4. Mitochondrial pyruvate carrier: a potential target for diabetic nephropathy.
      Title: Mitochondrial pyruvate carrier: a potential target for diabetic nephropathy.
    5. Characteristic Analysis of Homo- and Heterodimeric Complexes of Human Mitochondrial Pyruvate Carrier Related to Metabolic Diseases.
      Title: Characteristic Analysis of Homo- and Heterodimeric Complexes of Human Mitochondrial Pyruvate Carrier Related to Metabolic Diseases.
    6. The Multifaceted Pyruvate Metabolism: Role of the Mitochondrial Pyruvate Carrier.
      Title: The Multifaceted Pyruvate Metabolism: Role of the Mitochondrial Pyruvate Carrier.
    7. In contrast to MPC1, which co-purifies with a host chaperone, we demonstrated that MPC2 homo-oligomers promote efficient pyruvate transport into proteoliposomes. The derived functional requirements and kinetic features of MPC2 resemble those previously demonstrated for MPC in the literature
      Title: Human mitochondrial pyruvate carrier 2 as an autonomous membrane transporter.
    8. MPC2 rs10489202 was genome-wide significantly associated with schizophrenia. The expression quantitative trait loci analysis in lymphoblastoid cell lines from East Asian donors revealed that MPC2 rs10489202 was specifically and significantly associated with the expression of TIPRL gene.
      Title: Genetic association and meta-analysis of a schizophrenia GWAS variant rs10489202 in East Asian populations.
    9. The data demonstrated that CtBP1 directly bound to the promoters of MPC1 and MPC2 and transcriptionally repressed them, leading to increased levels of free NADH in the cytosol and nucleus, thus positively feeding back CtBP1's functions.
      Title: C-Terminal Binding Protein 1 Modulates Cellular Redox via Feedback Regulation of MPC1 and MPC2 in Melanoma Cells.
    10. Hypoxia induces lactate secretion and glycolytic efflux by downregulating MPC1/MPC2 levels in HUVEC cells.
      Title: Hypoxia induces lactate secretion and glycolytic efflux by downregulating mitochondrial pyruvate carrier levels in human umbilical vein endothelial cells.
    Submit: New GeneRIF Correction See all GeneRIFs (18)

    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
    Common variants on 8p12 and 1q24.2 confer risk of schizophrenia.
    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC125752, MGC125753, DKFZp564B167

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables pyruvate transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in acetyl-CoA biosynthetic process from pyruvate IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mitochondrial pyruvate transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrial pyruvate transmembrane transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in mitochondrial pyruvate transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of insulin secretion involved in cellular response to glucose stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of inner mitochondrial membrane protein complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in mitochondrial inner membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion HTP PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus HDA PubMed 

    General protein information

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    Preferred Names
    mitochondrial pyruvate carrier 2
    Names
    brain protein 44

    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_001143674.4 → NP_001137146.1  mitochondrial pyruvate carrier 2

      See identical proteins and their annotated locations for NP_001137146.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes a functional protein. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AL035304, KF455056, Z97876
      Consensus CDS
      CCDS1266.1
      UniProtKB/Swiss-Prot
      A8K261, O95563, Q3SXR6, Q6FIF3
      UniProtKB/TrEMBL
      B2R4Q7
      Related
      ENSP00000271373.4, ENST00000271373.9
      Conserved Domains (1) summary
      pfam03650
      Location:27 → 125
      MPC; Uncharacterized protein family (UPF0041)

    2. NM_015415.3 → NP_056230.1  mitochondrial pyruvate carrier 2

      See identical proteins and their annotated locations for NP_056230.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AL554033, KF455056, Z97876
      Consensus CDS
      CCDS1266.1
      UniProtKB/Swiss-Prot
      A8K261, O95563, Q3SXR6, Q6FIF3
      UniProtKB/TrEMBL
      B2R4Q7
      Related
      ENSP00000356820.4, ENST00000367846.8
      Conserved Domains (1) summary
      pfam03650
      Location:27 → 125
      MPC; Uncharacterized protein family (UPF0041)

    RNA

    1. NR_026550.3 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      BC104157, Z97876

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      167916675..167937072 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006711266.4 → XP_006711329.1  mitochondrial pyruvate carrier 2 isoform X1

      See identical proteins and their annotated locations for XP_006711329.1

      UniProtKB/Swiss-Prot
      A8K261, O95563, Q3SXR6, Q6FIF3
      UniProtKB/TrEMBL
      B2R4Q7
      Related
      ENSP00000392874.1, ENST00000458574.1
      Conserved Domains (1) summary
      pfam03650
      Location:27 → 125
      MPC; Uncharacterized protein family (UPF0041)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      167268139..167288538 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054335856.1 → XP_054191831.1  mitochondrial pyruvate carrier 2 isoform X1

      UniProtKB/Swiss-Prot
      A8K261, O95563, Q3SXR6, Q6FIF3
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95563.1 GenPept UniProtKB/Swiss-Prot:O95563

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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