GeneBe

DPP4

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

Basic information

Region (hg38): 2:161992245-162074394

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.

  • not_specified (92 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. These statistics are base on transcript: NM_000001935.4. Only rare variants are included in the table.

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.

EffectPLPVUSLBBSum
synonymous
5
clinvar
3
clinvar
 8
missense
88
clinvar
3
clinvar
1
clinvar
 92
nonsense
1
clinvar
 1
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 89 8 4
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
DPP4protein_codingprotein_codingENST00000360534 2682302
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
7.28e-91.0012558501631257480.000648
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.7913574020.8890.00001955041
Missense in Polyphen151177.440.851012180
Synonymous0.04391391400.9950.000007111348
Loss of Function3.812352.90.4350.00000234662

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0007280.000727
Ashkenazi Jewish0.000.00
East Asian0.002130.00212
Finnish0.001350.00134
European (Non-Finnish)0.0005220.000519
Middle Eastern0.002130.00212
South Asian0.0005770.000555
Other0.0001630.000163

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

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