DPP4

dipeptidyl peptidase 4, the group of DASH family|CD molecules

Basic information

Region (hg38): 2:161992244-162074394

Previous symbols: [ "CD26", "ADCP2" ]

Links

ENSG00000197635 ∙ NCBI:1803 ∙ OMIM:102720 ∙ HGNC:3009 ∙ Uniprot:P27487 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DPP4 gene.

• Inborn genetic diseases (32 variants)
• not provided (12 variants)
• Hereditary angioedema with normal C1Inh (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DPP4 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				3	3	6
missense			31	2	1	34
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1	2	3
non coding				1		1
Total	0	0	31	6	4

Variants in DPP4

This is a list of pathogenic ClinVar variants found in the DPP4 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
2-161993330-A-G		not specified	Uncertain significance (Dec 27, 2023)
2-161995012-T-G			Likely benign (Jul 08, 2017)
2-161995021-A-C		not specified	Uncertain significance (Nov 15, 2021)
2-161995315-G-A		not specified	Uncertain significance (May 23, 2023)
2-162005759-G-A		not specified	Uncertain significance (Feb 02, 2022)
2-162008558-A-G			Benign (Dec 31, 2019)
2-162008589-C-T		not specified	Uncertain significance (Jun 07, 2023)
2-162008614-G-A			Benign (Dec 31, 2019)
2-162008617-A-C		not specified	Uncertain significance (Nov 17, 2023)
2-162008624-G-A		not specified	Uncertain significance (Dec 15, 2022)
2-162009238-C-T			Benign (Dec 31, 2019)
2-162009245-C-A		not specified	Uncertain significance (Dec 27, 2023)
2-162009252-T-C		not specified	Uncertain significance (Apr 19, 2023)
2-162009294-G-T		not specified	Uncertain significance (Dec 17, 2023)
2-162011827-T-C		not specified	Uncertain significance (Sep 26, 2023)
2-162011907-A-G		not specified	Uncertain significance (Jul 14, 2022)
2-162014386-G-A			Likely benign (Jun 26, 2018)
2-162014416-T-C			Likely benign (Mar 29, 2018)
2-162014451-T-C		not specified	Uncertain significance (Jul 09, 2021)
2-162016796-T-A		not specified	Uncertain significance (Feb 06, 2024)
2-162017134-G-A		not specified	Uncertain significance (Dec 21, 2022)
2-162018821-G-A		not specified	Uncertain significance (Feb 02, 2022)
2-162018839-C-G			Benign (Dec 31, 2019)
2-162019216-C-T			Likely benign (Apr 13, 2018)
2-162019250-C-T		not specified	Uncertain significance (Nov 08, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DPP4	protein_coding	protein_coding	ENST00000360534	26	82302

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.28e-9	1.00	125585	0	163	125748	0.000648

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.791	357	402	0.889	0.0000195	5041
Missense in Polyphen		151	177.44	0.85101		2180
Synonymous	0.0439	139	140	0.995	0.00000711	1348
Loss of Function	3.81	23	52.9	0.435	0.00000234	662

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000728	0.000727
Ashkenazi Jewish	0.00	0.00
East Asian	0.00213	0.00212
Finnish	0.00135	0.00134
European (Non-Finnish)	0.000522	0.000519
Middle Eastern	0.00213	0.00212
South Asian	0.000577	0.000555
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Cell surface glycoprotein receptor involved in the costimulatory signal essential for T-cell receptor (TCR)-mediated T-cell activation. Acts as a positive regulator of T-cell coactivation, by binding at least ADA, CAV1, IGF2R, and PTPRC. Its binding to CAV1 and CARD11 induces T-cell proliferation and NF- kappa-B activation in a T-cell receptor/CD3-dependent manner. Its interaction with ADA also regulates lymphocyte-epithelial cell adhesion. In association with FAP is involved in the pericellular proteolysis of the extracellular matrix (ECM), the migration and invasion of endothelial cells into the ECM. May be involved in the promotion of lymphatic endothelial cells adhesion, migration and tube formation. When overexpressed, enhanced cell proliferation, a process inhibited by GPC3. Acts also as a serine exopeptidase with a dipeptidyl peptidase activity that regulates various physiological processes by cleaving peptides in the circulation, including many chemokines, mitogenic growth factors, neuropeptides and peptide hormones. Removes N-terminal dipeptides sequentially from polypeptides having unsubstituted N-termini provided that the penultimate residue is proline. {ECO:0000269|PubMed:10570924, ECO:0000269|PubMed:10593948, ECO:0000269|PubMed:10900005, ECO:0000269|PubMed:10951221, ECO:0000269|PubMed:11772392, ECO:0000269|PubMed:14691230, ECO:0000269|PubMed:16651416, ECO:0000269|PubMed:17287217, ECO:0000269|PubMed:17549790, ECO:0000269|PubMed:18708048}.
• Pathway: Protein digestion and absorption - Homo sapiens (human);Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP);Incretin synthesis, secretion, and inactivation;Peptide hormone metabolism;Metabolism of proteins;Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1) (Consensus)

Recessive Scores

• pRec: 0.650

Intolerance Scores

• loftool: 0.267
• rvis_EVS: -0.97
• rvis_percentile_EVS: 8.9

Haploinsufficiency Scores

• pHI: 0.311
• hipred: N
• hipred_score: 0.498
• ghis: 0.482

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.629

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Dpp4
• Phenotype: homeostasis/metabolism phenotype; endocrine/exocrine gland phenotype; growth/size/body region phenotype

Gene ontology

• Biological process: behavioral fear response;response to hypoxia;proteolysis;cell adhesion;positive regulation of cell population proliferation;negative regulation of extracellular matrix disassembly;T cell costimulation;regulation of cell-cell adhesion mediated by integrin;locomotory exploration behavior;psychomotor behavior;T cell activation;endothelial cell migration;viral entry into host cell;regulation of insulin secretion
• Cellular component: extracellular region;lysosomal membrane;plasma membrane;focal adhesion;cell surface;membrane;integral component of membrane;apical plasma membrane;lamellipodium;endocytic vesicle;lamellipodium membrane;membrane raft;intercellular canaliculus;extracellular exosome;invadopodium membrane
• Molecular function: virus receptor activity;protease binding;serine-type endopeptidase activity;signaling receptor binding;protein binding;serine-type peptidase activity;dipeptidyl-peptidase activity;identical protein binding;protein homodimerization activity