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Relevance to Autism

Rare mutations in the DPP10 gene have been identified with autism (Marshall et al., 2008).

Molecular Function

Binds specific voltage-gated potassium channels and alters their expression and biophysical properties

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Structural variation of chromosomes in autism spectrum disorder.
ASD
Negative Association
Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder-implications of a copy number variation involving DPP10.
ASD
Support
Integrating de novo and inherited variants in 42
ASD
Support
Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior.
ASD
Support
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
ASD
Support
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
ASD
Highly Cited
Modulation of Kv4.2 channel expression and gating by dipeptidyl peptidase 10 (DPP10).
Recent Recommendation
Human-specific histone methylation signatures at transcription start sites in prefrontal neurons.
Recent Recommendation
Augmentation of Kv4.2-encoded currents by accessory dipeptidyl peptidase 6 and 10 subunits reflects selective cell surface Kv4.2 protein stabilizat...
Recent Recommendation
Weighing the evidence for a ternary protein complex mediating A-type K currents in neurons.
Recent Recommendation
Ternary Kv4.2 channels recapitulate voltage-dependent inactivation kinetics of A-type K channels in cerebellar granule neurons.
Recent Recommendation
DPP10 is an inactivation modulatory protein of Kv4.3 and Kv1.4.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN072R001 
 copy_number_loss 
  
  
 Familial 
 Paternal 
 Simplex 
 GEN072R002 
 copy_number_gain 
  
  
 Familial 
 Paternal 
 Multiplex 
 GEN072R003 
 copy_number_gain 
  
  
 Unknown 
  
 Unknown 
 GEN072R004 
 copy_number_loss 
  
  
 Unknown 
  
 Unknown 
 GEN072R005 
 copy_number_loss 
  
  
 Unknown 
  
 Unknown 
 GEN072R006 
 copy_number_gain 
  
  
 Unknown 
  
 Unknown 
 GEN072R007 
 copy_number_gain 
  
  
 Familial 
 Maternal 
 Simplex 
 GEN072R008 
 copy_number_gain 
  
  
 Familial 
 Paternal 
 Simplex 
 GEN072R009 
 copy_number_gain 
  
  
 Familial 
 Paternal 
 Simplex 
 GEN072R010 
 copy_number_gain 
  
  
 Familial 
 Paternal 
 Simplex 
 GEN072R011 
 copy_number_gain 
  
  
 Familial 
 Maternal 
 Simplex 
 GEN072R012 
 intron_variant 
 c.556-10961A>T 
  
  
  
 Unknown 
 GEN072R013 
 copy_number_gain 
  
  
 Unknown 
  
  
 GEN072R014 
 missense_variant 
 c.188C>T 
 p.Ser63Phe 
 De novo 
  
 Simplex 
 GEN072R015 
 missense_variant 
 c.1408T>C 
 p.Tyr470His 
 De novo 
  
  
 GEN072R016 
 missense_variant 
 c.443C>T 
 p.Ser148Leu 
 De novo 
  
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
2
Duplication
 1
 
2
Duplication
 1
 
2
Deletion-Duplication
 15
 

No Animal Model Data Available


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
FMR1 fragile X mental retardation 1 2332 G8JLE9 PAR-CLIP
Ascano M Jr , et al. 2012
KCND2 potassium voltage-gated channel, Shal-related subfamily, member 2 3751 A4D0V9 IP/WB; Electrophysiology; Immunofluorescence
Jerng HH , et al. 2004
KCND2 potassium voltage-gated channel, Shal-related subfamily, member 2 3751 A4D0V9 Single-molecule Imaging
Kitazawa M , et al. 2015

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