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

Gene ID: 25874, updated on 12-Aug-2018

Summary

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; Vega:OTTHUMG00000034570
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
Expression
Broad expression in kidney (RPKM 34.8), liver (RPKM 32.8) and 25 other tissues See more
Orthologs

Genomic context

See MPC2 in Genome Data Viewer
Location:
1q24.2
Exon count:
7
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (167916675..167937069, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (167885913..167906307, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene myelin protein zero like 1 Neighboring gene adenylate cyclase 10 Neighboring gene DDB1 and CUL4 associated factor 6 Neighboring gene microRNA 1255b-2 Neighboring gene glycine cleavage system protein H pseudogene 5

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Common variants on 8p12 and 1q24.2 confer risk of schizophrenia.
NHGRI GWA Catalog

Pathways from BioSystems

  • Glycolysis and Gluconeogenesis, organism-specific biosystem (from WikiPathways)
    Glycolysis and Gluconeogenesis, organism-specific biosystemGlycolysis is the metabolic pathway that converts glucose C6H12O6, into pyruvate, CH3COCOO? + H+. The free energy released in this process is used to form the ATP and NADH. Gluconeogenesis is a metab...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Pyruvate metabolism, organism-specific biosystem (from REACTOME)
    Pyruvate metabolism, organism-specific biosystemPyruvate sits at an intersection of key pathways of energy metabolism. It is the end product of glycolysis and the starting point for gluconeogenesis, and can be generated by transamination of alanin...
  • Pyruvate metabolism and Citric Acid (TCA) cycle, organism-specific biosystem (from REACTOME)
    Pyruvate metabolism and Citric Acid (TCA) cycle, organism-specific biosystemPyruvate metabolism and the citric acid (TCA) cycle together link the processes of energy metabolism in a human cell with one another and with key biosynthetic reactions. Pyruvate, derived from the r...
  • The citric acid (TCA) cycle and respiratory electron transport, organism-specific biosystem (from REACTOME)
    The citric acid (TCA) cycle and respiratory electron transport, organism-specific biosystemThe metabolism of pyruvate provides one source of acetyl-CoA which enters the citric acid (TCA, tricarboxylic acid) cycle to generate energy and the reducing equivalent NADH. These reducing equivalen...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC125752, MGC125753, DKFZp564B167

Gene Ontology Provided by GOA

Function Evidence Code Pubs
pyruvate transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
integral component of mitochondrial inner membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 
nucleus HDA PubMed 

General protein information

Preferred Names
mitochondrial pyruvate carrier 2
Names
brain protein 44

NCBI Reference Sequences (RefSeq)

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_001143674.3NP_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
    O95563
    UniProtKB/TrEMBL
    A0A024R8Z5
    Related
    ENSP00000271373.4, OTTHUMP00000032517, ENST00000271373.8, OTTHUMT00000083653
    Conserved Domains (1) summary
    pfam03650
    Location:27125
    MPC; Uncharacterized protein family (UPF0041)
  2. NM_015415.3NP_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
    O95563
    UniProtKB/TrEMBL
    A0A024R8Z5
    Related
    ENSP00000356820.4, OTTHUMP00000032516, ENST00000367846.8, OTTHUMT00000083652
    Conserved Domains (1) summary
    pfam03650
    Location:27125
    MPC; Uncharacterized protein family (UPF0041)

RNA

  1. NR_026550.2 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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    167916675..167937069 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006711266.3XP_006711329.1  mitochondrial pyruvate carrier 2 isoform X1

    See identical proteins and their annotated locations for XP_006711329.1

    UniProtKB/Swiss-Prot
    O95563
    UniProtKB/TrEMBL
    A0A024R8Z5
    Related
    ENSP00000392874.1, OTTHUMP00000032518, ENST00000458574.1, OTTHUMT00000083654
    Conserved Domains (1) summary
    pfam03650
    Location:27125
    MPC; Uncharacterized protein family (UPF0041)
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