MPC2

protein-coding

mitochondrial pyruvate carrier 2, the group of Solute carrier family 54, mitochondrial pyruvate carriers

Gene summary

Enables identical protein binding activity. Involved in pyruvate import into mitochondria. Located in mitochondrial inner membrane. Part of mitochondrial pyruvate carrier complex. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

BRP44

MANE transcript

NM_001143674.4

Inheritance

ClinVar variants

U:14

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.13

Max pathogenic AF

—

Genomic locus

chr1:167,916,675-167,937,072

External References & Databases

Ensembl (ENSG00000143158)

Transcript & Mutation Effects

hg38 • Region Span ~20.4 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

metabolic diseaseLIMITED

Inheritance Pattern: AR

Disease ID:MONDO:0005066

Submitter: G2P

mitochondrial pyruvate carrier deficiencyMODERATE

Inheritance Pattern: AR

Disease ID:MONDO:0013877

Submitter: PanelApp Australia

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to MPC2 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 12

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001143674.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			10 clinvar			10
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	0	14	0	0	14

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 35 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001143674.4	RefSeq	NP_001137146.1	5	MANE Select
ENST00000271373.9	Ensembl	ENSP00000271373.4	5	MANE Select
NM_015415.3	RefSeq	NP_056230.1	5	Standard
ENST00000367846.8	Ensembl	ENSP00000356820.4	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Glycolysis and Gluconeogenesis
Pyruvate metabolism
Pyruvate metabolism and Citric Acid (TCA) cycle
The citric acid (TCA) cycle and respiratory electron transport
Metabolism

Biological Process

mitochondrial pyruvate transmembrane transport
positive regulation of insulin secretion involved in cellular response to glucose stimulus
mitochondrial acetyl-CoA biosynthetic process from pyruvate

Molecular Function

pyruvate transmembrane transporter activity

Cellular Component

nucleus
mitochondrion
integral component of mitochondrial inner membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000367846
Coding exons: 5
Length: 20312
Individuals with no LoFs: 125686
Homozygous LoFs: 1
Heterozygous LoFs: 2
Defined: 125689
p: 0.0000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.985	42	64.2	0.654	0.00000282	799
Missense (PolyPhen)		10	18.055	0.55385		263
Synonymous	-0.712	27	22.7	1.19	0.00000102	244
Loss of Function	2.20	1	7.49	0.134	3.22e-7	89

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000029	0.000029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00013	0.000054	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.0000095	0.0000088	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Mediates the uptake of pyruvate into mitochondria. {ECO:0000269|PubMed:22628558}.;

Recessive Scores

pRec: 0.0961

Intolerance Scores

RVIS EVS: 0.5
RVIS percentile EVS: 79.79

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium