SLC25A52

Chr 18

solute carrier family 25 member 52

Also known as: MCART2

NCBI Gene: 147407ENSG00000141437UniProt: Q3SY17

This protein is a mitochondrial membrane carrier that mediates the import of NAD(+) into mitochondria, though it is not essential for this process compared to the related SLC25A51 protein. The gene appears to be loss-of-function tolerant based on population genetics data (low constraint scores), and no definitive disease associations have been established in the provided information. The gene may represent an evolving pseudogene that retains transcriptional activity and a complete coding sequence.

Summary from RefSeq, UniProt
Research Assistant →
0
Active trials
0
Pubs (1 yr)
39
P/LP submissions
0%
P/LP missense
1.76
LOEUF
Multiple*
Mechanism· predicted
Clinical Summary— SLC25A52
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
37 unique Pathogenic / Likely Pathogenic· 20 VUS of 58 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.76LOEUF
pLI 0.001
Z-score 0.14
OE 0.93 (0.48–1.76)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.09Z-score
OE missense 0.98 (0.86–1.11)
171 obs / 174.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.93 (0.48–1.76)
0≤0.351.4
Missense OE0.98 (0.86–1.11)
0≤0.61.4
Synonymous OE0.94
0≤1.21.6
LoF obs/exp: 5 / 5.4Missense obs/exp: 171 / 174.4Syn Z: 0.37
DN
0.89top 5%
GOF
0.77top 25%
LOF
0.2191th %ile

This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

DNprediction above median
GOFprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

58 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic36
Likely Pathogenic1
VUS20
Likely Benign1
36
Pathogenic
1
Likely Pathogenic
20
VUS
1
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
36
0
36
Likely Pathogenic
0
0
1
0
1
VUS
0
10
10
0
20
Likely Benign
0
0
1
0
1
Benign
0
0
0
0
0
Total01048058

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

SLC25A52 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Whole-genome sequence-based analysis of thyroid function.
Taylor PN et al.·Nat Commun
2015Meta-analysis
Top 1 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients