DPP4
Basic information
Region (hg38): 2:161992245-162074394
Previous symbols: [ "CD26", "ADCP2" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- 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.
Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
---|---|---|---|---|---|---|
synonymous | 8 | |||||
missense | 88 | 92 | ||||
nonsense | 1 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
Total | 0 | 0 | 89 | 8 | 4 |
GnomAD
Source:
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:
- 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