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

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; 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, Oct 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

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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Structural Insights into the Human Mitochondrial Pyruvate Carrier Complexes.
Title: Structural Insights into the Human Mitochondrial Pyruvate Carrier Complexes.
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.
Mitochondrial pyruvate carrier: a potential target for diabetic nephropathy.
Title: Mitochondrial pyruvate carrier: a potential target for diabetic nephropathy.
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.
The Multifaceted Pyruvate Metabolism: Role of the Mitochondrial Pyruvate Carrier.
Title: The Multifaceted Pyruvate Metabolism: Role of the Mitochondrial Pyruvate Carrier.
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.
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.
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.
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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH11475 (e-PCR)
- UniSTS:49946

SGC32847 (e-PCR)
- UniSTS:19244

G09946 (e-PCR)
- UniSTS:82804

NoName (e-PCR)
- UniSTS:486584

D1S3555 (e-PCR)
- UniSTS:59611

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 more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info
located_in nucleus	HDA more info	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)

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)
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

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