DPP6
Homo sapiens
Gene Name: dipeptidyl-peptidase 6
Aliases: DPPX; MGC46605
Chromosome No: 7
Chromosome Band: 7q36.2
Genetic Category: Genetic Association-Rare Single Gene variant-Rare single gene variant/multigenic CNV-Rare single gene variant/Functional-Functional
Aliases: DPPX; MGC46605
Chromosome No: 7
Chromosome Band: 7q36.2
Genetic Category: Genetic Association-Rare Single Gene variant-Rare single gene variant/multigenic CNV-Rare single gene variant/Functional-Functional
Summary Statistics:
ASD Reports: 28
Recent Reports: 13
Annotated variants: 28
Associated CNVs: 12
Evidence score: 3
ASD Reports: 28
Recent Reports: 13
Annotated variants: 28
Associated CNVs: 12
Evidence score: 3
| Associated Disorders: |
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Relevance to Autism
Rare mutations in the DPP6 gene have been identified with autism (Marshall et al., 2008; ORoak et al., 2012). In addition, genetic association has been found between DPP6 and amyotrophic lateral sclerosis (ALS) (van Es et al., 2008).
Molecular Function
This protein modulates the kinetics of transient A-type currents.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Structural variation of chromosomes in autism spectrum disorder.
ASD
Support
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
ASD
Support
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
ASD
Support
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
ASD
Support
Targeted next generation sequencing of a panel of autism-related genes identifies an EHMT1 mutation in a Kleefstra syndrome patient with autism and...
ASD
Support
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
ASD
Support
Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder.
ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
DPP6 gene disruption in a family with Gilles de la Tourette syndrome.
TS
ADHD
Support
Clinical Targeted Panel Sequencing Analysis in Clinical Evaluation of Children with Autism Spectrum Disorder in China
ASD
Highly Cited
Rump white inversion in the mouse disrupts dipeptidyl aminopeptidase-like protein 6 and causes dysregulation of Kit expression.
Recent Recommendation
Ternary Kv4.2 channels recapitulate voltage-dependent inactivation kinetics of A-type K channels in cerebellar granule neurons.
Recent Recommendation
The dipeptidyl-peptidase-like protein DPP6 determines the unitary conductance of neuronal Kv4.2 channels.
Recent Recommendation
Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis.
ALS
Recent Recommendation
A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis.
Recent Recommendation
Species and tissue differences in the expression of DPPY splicing variants.
Recent Recommendation
DPP6 Localization in Brain Supports Function as a Kv4 Channel Associated Protein.
Recent Recommendation
DPP6 regulation of dendritic morphogenesis impacts hippocampal synaptic development.
Recent Recommendation
Kv4 accessory protein DPPX (DPP6) is a critical regulator of membrane excitability in hippocampal CA1 pyramidal neurons.
Recent Recommendation
Loss-of-function variation in the DPP6 gene is associated with autosomal dominant microcephaly and mental retardation.
ID
Recent Recommendation
Effects of MiRP1 and DPP6 beta-subunits on the blockade induced by flecainide of Kv4.3/KChIP2 channels.
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
I SA channel complexes include four subunits each of DPP6 and Kv4.2.
Recent Recommendation
The dipeptidyl-aminopeptidase-like protein 6 is an integral voltage sensor-interacting beta-subunit of neuronal K(V)4.2 channels.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN073R015
missense_variant
c.1153A>C
p.Met385Leu
Familial
Maternal and Paternal
Multi-generational
GEN073R021
missense_variant
c.964C>T
p.Arg322Cys
Familial
Paternal
Multi-generational
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN073C001
intron_variant
rs10260404
c.266-26819T>C;c.272-26819T>C;c.458-26819T>C;c.275-26819T>C
European
Discovery
