DPP4
Homo sapiens
Gene Name: Dipeptidyl-peptidase 4
Aliases: ADABP, ADCP2, CD26, DPPIV, TP103
Chromosome No: 2
Chromosome Band: 2q24.2
Genetic Category: Rare single gene variant--Genetic association
Aliases: ADABP, ADCP2, CD26, DPPIV, TP103
Chromosome No: 2
Chromosome Band: 2q24.2
Genetic Category: Rare single gene variant--Genetic association
Summary Statistics:
ASD Reports: 6
Recent Reports: 1
Annotated variants: 6
Associated CNVs: 8
Evidence score: 2
ASD Reports: 6
Recent Reports: 1
Annotated variants: 6
Associated CNVs: 8
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
A recurrent homozygous splice-site variant in the DPP4 gene was found to segregate with ASD in one out of two multiplex families (Lim et al., 2013). A de novo frameshift variant in the DPP4 gene has also been identified (De Rubeis et al., 2014).
Molecular Function
The protein encoded by this gene is identical to adenosine deaminase complexing protein-2, and to the T-cell activation antigen CD26. It is an intrinsic membrane glycoprotein and a serine exopeptidase that cleaves X-proline dipeptides from the N-terminus of polypeptides.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders.
ASD
Positive Association
Novel genetic loci associated with hippocampal volume.
Hippocampal volume
Positive Association
Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with ...
ASD
Support
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Support
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
ASD
Recent Recommendation
De Novo Synonymous Mutations in Regulatory Elements Contribute to the Genetic Etiology of Autism and Schizophrenia.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN750C001
intron_variant
rs2268894
c.2053-4266G>A;c.2050-4266G>A
26,814 European individuals with high-resolution MRI brain scans and genome-wide genotyping data from the ENIGMA Consortium and the CHARGE Consortium
Discovery
GEN750C002
intron_variant
rs2909451
c.1568-823G>A;c.1565-823G>A
7387 ASD cases and 8567 controls from Autism Center of Excellence Network (ACE), Autism Genetic Resource Exchange (AGRE), Autism Genome Project (AGP), Finnish Case-Control ASD Collection, NIMH Repository and Montreal/Boston (MonBos) Collection, Population-Based Autism Genetics and Environment Study (PAGES), Simons Simplex Collection (SSC), and Weiss Laboratory Autism Collection
Discovery
