DPP3
Homo sapiens
Gene Name: dipeptidyl peptidase 3
Aliases: DPPIII
Chromosome No: 11
Chromosome Band: 11q13.2
Genetic Category: Rare single gene variant-
Aliases: DPPIII
Chromosome No: 11
Chromosome Band: 11q13.2
Genetic Category: Rare single gene variant-
Summary Statistics:
ASD Reports: 4
Recent Reports: 1
Annotated variants: 6
Associated CNVs: 1
Evidence score: 2
ASD Reports: 4
Recent Reports: 1
Annotated variants: 6
Associated CNVs: 1
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Two de novo variants (one splice-site variant, one missense variant) in the DPP3 gene were identified in ASD probands from the Autism Sequencing Consortium in De Rubeis et al., 2014. TADA analysis of 4,504 ASD trios and 3,012 unaffected control/siblings trios from trio-based exome/genome sequencing studies identified DPP3 as an ASD candidate gene with a q-value < 0.1 (Du et al., 2019).
Molecular Function
This gene encodes a protein that is a member of the M49 family of metallopeptidases. This cytoplasmic protein binds a single zinc ion with its zinc-binding motif (HELLGH) and has post-proline dipeptidyl aminopeptidase activity, cleaving Xaa-Pro dipeptides from the N-termini of proteins.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Recent Recommendation
Nonrandom occurrence of multiple de novo coding variants in a proband indicates the existence of an oligogenic model in autism.
ASD
