MPC2

Chr 1q24.2

mitochondrial pyruvate carrier 2

Aliases:: DKFZP564B167, SLC54A2
MANE:: ENST00000271373.9

OMIM: 614737 ↗NCBI: 25874 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

MPC2 · O95563

v62025-08-01

Predicted Aligned Error matrix for MPC2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

89.4/ 100

Confident

127 residues

Confidence breakdown

Very high(≥ 90)53%
Confident(70–90)46%
Low(50–70)2%
Very low(< 50)0%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

mitochondrial pyruvate carrier deficiency
0.19
colorectal carcinoma
0.09
MODY
0.08
schizophrenia
0.08
renal cell carcinoma
0.07
melanoma
0.07
acute kidney injury
0.06
hepatocellular carcinoma
0.06
hyperinsulinism due to INSR deficiency
0.06
transient neonatal diabetes mellitus
0.06

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Mitochondrial pyruvate carrier 2

Mediates the uptake of pyruvate into mitochondria to maintain the balance between glycolysis and oxidative phosphorylation (PubMed:22628558, PubMed:26253029, PubMed:27317664, PubMed:29472561, PubMed:40044865, PubMed:40101766, PubMed:35278701). Plays an essential role in cellular metabolism (PubMed:40044865, PubMed:40101766)