DPP7

Chr 9

dipeptidyl peptidase 7

Also known as: DPP, DPP II, DPP2, DPPII, II, QPP

DPP7 encodes a post-proline cleaving aminopeptidase that degrades oligopeptides and is expressed in quiescent lymphocytes where it suppresses apoptosis. Mutations cause autosomal recessive hypotrichosis simplex, characterized by sparse hair growth typically evident from birth. This gene shows very low constraint against loss-of-function variants, consistent with a recessive inheritance pattern.

OMIMResearchSummary from RefSeq, UniProt
MultiplemechanismLOEUF 1.60
Clinical SummaryDPP7
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
1.60LOEUF
pLI 0.000
Z-score -0.86
OE 1.19 (0.891.60)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-1.16Z-score
OE missense 1.19 (1.091.29)
368 obs / 310.5 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE1.19 (0.891.60)
00.351.4
Missense OE1.19 (1.091.29)
00.61.4
Synonymous OE1.02
01.21.6
LoF obs/exp: 30 / 25.3Missense obs/exp: 368 / 310.5Syn Z: -0.22
DN
0.6161th %ile
GOF
0.7029th %ile
LOF
0.2485th %ile

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

GOFprediction above median
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

DPP7 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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