DPP4

Chr 2

dipeptidyl peptidase 4

Also known as: ADABP, ADCP2, CD26, DPPIV, TP103

NCBI Gene: 1803 ENSG00000197635 UniProt: P27487 OMIM: 102720

The DPP4 gene encodes dipeptidyl peptidase 4, which is identical to adenosine deaminase complexing protein-2, and to the T-cell activation antigen CD26. It is an intrinsic type II transmembrane glycoprotein and a serine exopeptidase that cleaves X-proline dipeptides from the N-terminus of polypeptides. Dipeptidyl peptidase 4 is highly involved in glucose and insulin metabolism, as well as in immune regulation. This protein was shown to be a functional receptor for Middle East respiratory syndrome coronavirus (MERS-CoV), and protein modeling suggests that it may play a similar role with SARS-CoV-2, the virus responsible for COVID-19. [provided by RefSeq, Apr 2020]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

484

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.62

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.62LOEUF

pLI 0.000

Z-score 3.81

OE 0.44 (0.31–0.62)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.79Z-score

OE missense 0.89 (0.81–0.97)

357 obs / 401.6 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.44 (0.31–0.62)

0≤0.351.4

Missense OE?0.89 (0.81–0.97)

0≤0.61.4

Synonymous OE?1.00

0≤1.21.6

LoF obs/exp: 23 / 52.9Missense obs/exp: 357 / 401.6Syn Z: 0.04

Background carrier burden — how many people carry a rare variant somewhere in DPP4?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 67

976 rare PASS variants

Rare truncating (LoF)

1 in 690

183 rare PASS variants

Rare synonymous (reference)

1 in 140

338 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for DPP4. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 110	1 in 670
South Asian	~43k	1 in 72	1 in 1,100
Remaining (unassigned)	~30k	1 in 65	1 in 770
European (Finnish)	~27k	1 in 330	1 in 490
Admixed American	~22k	1 in 91	1 in 1,300
African / African American	~21k	1 in 64	1 in 810
East Asian	~20k	1 in 73	1 in 680
Ashkenazi Jewish	~13k	1 in 180	≈ 1 in 6,500
Middle Eastern	~2,884	1 in 70	1 in 480

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 21 of 26 coding exons well covered in gnomAD exomes; exons 3, 4, 5, 15, 19 marginal. Genomes: 25 of 26 (exon 14 below).? see exons ↓