SLC15A2

Chr 3

solute carrier family 15 member 2

Also known as: PEPT2

The mammalian kidney expresses a proton-coupled peptide transporter that is responsible for the absorption of small peptides, as well as beta-lactam antibiotics and other peptide-like drugs, from the tubular filtrate. This transporter, SLC15A2, belongs to the same gene family as SLC15A1 (MIM 600544), the proton-coupled peptide transporter found in the small intestine (Liu et al, 1995 [PubMed 7756356]).[supplied by OMIM, Feb 2011]

OMIMResearchGenerating clinical summary…
DNmechanismLOEUF 1.05
Clinical SummarySLC15A2
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.05LOEUF
pLI 0.000
Z-score 1.27
OE 0.79 (0.601.05)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.20Z-score
OE missense 0.97 (0.891.06)
376 obs / 387.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.79 (0.601.05)
00.351.4
Missense OE?0.97 (0.891.06)
00.61.4
Synonymous OE?1.00
01.21.6
LoF obs/exp: 35 / 44.1Missense obs/exp: 376 / 387.1Syn Z: 0.00

This gene — mechanism propensity

DN
0.6744th %ile
GOF
0.5759th %ile
LOF
0.3068th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction 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

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

SLC15A2 · 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

No active trials found for this gene.

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