Mitochondrial pyruvate carrier 2

(Redirected from MPC2) Protein-coding gene in the species Homo sapiens

MPC2

Identifiers

MPC2, BRP44, mitochondrial pyruvate carrier 2, SLC54A2

External IDs

OMIM: 614737; MGI: 1917706; HomoloGene: 31675; GeneCards: MPC2; OMA:MPC2 - orthologs

Gene location (Human)

Chr.	Chromosome 1 (human)

Band	1q24.2	Start	167,916,675 bp
Band	1q24.2	End	167,937,072 bp

Gene location (Mouse)

Chr.	Chromosome 1 (mouse)

Band	1\|1 H2.3	Start	165,288,206 bp
Band	1\|1 H2.3	End	165,308,783 bp

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

sperm

thoracic diaphragm

left testis

right testis

right ventricle

renal medulla

mucosa of sigmoid colon

Skeletal muscle tissue of rectus abdominis

myocardium of left ventricle

liver

Top expressed in

cardiac muscle tissue of left ventricle

masseter muscle

interventricular septum

atrioventricular valve

seminiferous tubule

extensor digitorum longus muscle

digastric muscle

right kidney

tunica adventitia of aorta

thoracic diaphragm

More reference expression data

BioGPS


More reference expression data

Gene ontology
Molecular function	pyruvate transmembrane transporter activity
Cellular component	integral component of membrane mitochondrial inner membrane membrane mitochondrion nucleus integral component of mitochondrial inner membrane
Biological process	mitochondrial acetyl-CoA biosynthetic process from pyruvate positive regulation of insulin secretion involved in cellular response to glucose stimulus mitochondrial pyruvate transmembrane transport transport
Sources:Amigo / QuickGO

Orthologs

Species

Human

Mouse

Entrez


25874


70456

Ensembl


ENSG00000143158


ENSMUSG00000026568

UniProt


O95563 Q5R3B4


Q9D023

RefSeq (mRNA)


NM_001143674 NM_015415


NM_027430

RefSeq (protein)


NP_001137146 NP_056230


NP_081706

Location (UCSC)

Chr 1: 167.92 – 167.94 Mb

Chr 1: 165.29 – 165.31 Mb

PubMed search

Wikidata

View/Edit Human

View/Edit Mouse

Mitochondrial pyruvate carrier 2 (MPC2) also known as brain protein 44 (BRP44) is a protein that in humans is encoded by the MPC2 gene. It is a member of the Mitochondrial Pyruvate Carrier (MPC) protein family. This protein is involved in transport of pyruvate across the inner membrane of mitochondria in preparation for the pyruvate dehydrogenase reaction.

Interactive pathway map

Click on genes, proteins and metabolites below to link to respective articles.

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|alt=Glycolysis and Gluconeogenesis edit]] Glycolysis and Gluconeogenesis edit

The interactive pathway map can be edited at WikiPathways: "GlycolysisGluconeogenesis_WP534".

Clinical significance

Mutations in the MPC2 gene cause an autosomal recessive disease comparable to the symptoms of Mitochondrial pyruvate carrier deficiency (MPC1 gene). The symptoms associated with mutations in the MPC2 gene include early-onset neurological problems, normal lactate/pyruvate ratio (however both lactate and pyruvate are in higher than normal concentrations), lactic acidosis, hypotonia, cardiomegaly, and facial dysmorphia.

References

^ GRCh38: Ensembl release 89: ENSG00000143158 – Ensembl, May 2017
^ GRCm38: Ensembl release 89: ENSMUSG00000026568 – Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, et al. (March 2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Research. 11 (3): 422–435. doi:10.1101/gr.GR1547R. PMC 311072. PMID 11230166.
Tsou AP, Lai C, Danielson P, Noonan DJ, Sutcliffe JG (March 1986). "Structural characterization of a heterogeneous family of rat brain mRNAs". Molecular and Cellular Biology. 6 (3): 768–778. doi:10.1128/mcb.6.3.768. PMC 367577. PMID 3022128.
"BRP44 brain protein 44". Entrez Gene.
"mitochondrial pyruvate carrier (MPC) (TC 2.A.105) family". UniProt.
"Pyruvate transmembrane transporter activity". QuickGO. EMBL-EBI.
^ Pujol C, Lebigot E, Gaignard P, Galai S, Kraoua I, Bault JP, et al. (March 2023). "MPC2 variants disrupt mitochondrial pyruvate metabolism and cause an early-onset mitochondriopathy". Brain. 146 (3): 858–864. doi:10.1093/brain/awac444. PMC 9976959. PMID 36417180.

Hartley JL, Temple GF, Brasch MA (November 2000). "DNA cloning using in vitro site-specific recombination". Genome Research. 10 (11): 1788–1795. doi:10.1101/gr.143000. PMC 310948. PMID 11076863.
Simpson JC, Wellenreuther R, Poustka A, Pepperkok R, Wiemann S (September 2000). "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing". EMBO Reports. 1 (3): 287–292. doi:10.1093/embo-reports/kvd058. PMC 1083732. PMID 11256614.
Wiemann S, Arlt D, Huber W, Wellenreuther R, Schleeger S, Mehrle A, et al. (October 2004). "From ORFeome to biology: a functional genomics pipeline". Genome Research. 14 (10B): 2136–2144. doi:10.1101/gr.2576704. PMC 528930. PMID 15489336.
Mehrle A, Rosenfelder H, Schupp I, del Val C, Arlt D, Hahne F, et al. (January 2006). "The LIFEdb database in 2006". Nucleic Acids Research. 34 (Database issue): D415 – D418. doi:10.1093/nar/gkj139. PMC 1347501. PMID 16381901.

This article on a gene on human chromosome 1 is a stub. You can help Misplaced Pages by expanding it.

Inborn error of carbohydrate metabolism: monosaccharide metabolism disorders
Including glycogen storage diseases (GSD)

Sucrose, transport
(extracellular)

Disaccharide catabolism	Congenital alactasia Sucrose intolerance
Monosaccharide transport	Glucose-galactose malabsorption Inborn errors of renal tubular transport (Renal glycosuria) Fructose malabsorption De Vivo Disease (GLUT1 deficiency) Fanconi-Bickel syndrome (GLUT2 deficiency)

Hexose → glucose

Monosaccharide catabolism

Fructose:	Essential fructosuria Fructose intolerance
Galactose / galactosemia:	GALK deficiency GALT deficiency/GALE deficiency

Glucose ⇄ glycogen

Glycogenesis

GSD type 0 (glycogen synthase deficiency)
GSD type IV (Andersen's disease, branching enzyme deficiency)
Adult polyglucosan body disease (APBD)
Lafora disease
GSD type XV (glycogenin deficiency)

Glycogenolysis

Extralysosomal:	GSD type III (Cori's disease, debranching enzyme deficiency) GSD type VI (Hers' disease, liver glycogen phosphorylase deficiency) GSD type V (McArdle's disease, myophosphorylase deficiency) GSD type IX (phosphorylase kinase deficiency) Phosphoglucomutase deficiency (PGM1-CDG, CDG1T, formerly GSD-XIV)
Lysosomal (LSD):	Glycogen storage disease type II (Pompe's disease, glucosidase deficiency, formerly GSD-IIa) Danon disease (LAMP2 deficiency, formerly GSD-IIb)

Glucose ⇄ CAC

Glycolysis	MODY 2/HHF3 GSD type VII (Tarui's disease, phosphofructokinase deficiency) Triosephosphate isomerase deficiency Pyruvate kinase deficiency Aldolase A deficiency Phosphoglucose isomerase deficiency Phosphoglycerate kinase deficiency Mitochondrial pyruvate carrier deficiency (MPC1 deficiency)
Gluconeogenesis	Pyruvate carboxylase deficiency Fructose bisphosphatase deficiency GSD type I (von Gierke's disease, glucose 6-phosphatase deficiency)

Pentose phosphate pathway

Glucose-6-phosphate dehydrogenase deficiency
Transaldolase deficiency
SDDHD (Transketolase deficiency)
6-phosphogluconate dehydrogenase deficiency

Other

Hyperoxaluria
- Primary hyperoxaluria
Pentosuria
Fatal congenital nonlysosomal cardiac glycogenosis (AMP-activated protein kinase deficiency, PRKAG2)

v t e Genetic disorder, membrane: Solute carrier disorders
1-10	SLC1A3 Episodic ataxia 6 SLC1A4 SPATCCM SLC2A1 De Vivo disease SLC2A2 Fanconi-Bickel syndrome SLC2A5 Fructose malabsorption SLC2A10 Arterial tortuosity syndrome SLC3A1 Cystinuria SLC4A1 Hereditary spherocytosis 4/Hereditary elliptocytosis 4 SLC4A11 Congenital endothelial dystrophy type 2 Fuchs' dystrophy 4 SLC5A1 Glucose-galactose malabsorption SLC5A2 Renal glycosuria SLC5A5 Thyroid dyshormonogenesis type 1 SLC6A19 Hartnup disease SLC7A7 Lysinuric protein intolerance SLC7A9 Cystinuria
11-20	SLC11A1 Crohn's disease SLC12A3 Gitelman syndrome SLC16A1 HHF7 SLC16A2 Allan–Herndon–Dudley syndrome SLC17A3 Von Gierke's disease, GSD-Ic SLC17A5 Salla disease SLC17A8 DFNA25
21-40	SLC26A2 Multiple epiphyseal dysplasia 4 Achondrogenesis type 1B Recessive multiple epiphyseal dysplasia Atelosteogenesis, type II Diastrophic dysplasia SLC26A4 Pendred syndrome SLC35C1 CDOG 2C SLC37A4 Von Gierke's disease, GSD-Ib SLC39A4 Acrodermatitis enteropathica SLC40A1 African iron overload
51-60	SLC54A1 (Mitochondrial pyruvate carrier deficiency)
see also solute carrier family

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