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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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DPP6
dipeptidyl peptidase like 6
Chromosome 7 · 7q36.2
NCBI Gene: 1804Ensembl: ENSG00000130226.18HGNC: HGNC:3010UniProt: A0A994J521
72PubMed Papers
22Diseases
0Drugs
3Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
regulation of potassium ion transmembrane transportprotein bindingvoltage-gated potassium channel complexpotassium channel regulator activityAutosomal dominant microcephalyIdiopathic ventricular fibrillation, not Brugada typealcohol drinkingparoxysmal familial ventricular fibrillation
✦AI Summary

DPP6 is an auxiliary subunit of voltage-gated potassium channels (particularly KCND2/Kv4) that regulates neuronal excitability through two primary mechanisms. First, DPP6 promotes cell surface expression of KCND2 and modulates its gating characteristics 12, interacting with the voltage-sensing domain S1-S2 helices to accelerate voltage-dependent channel activation 3. Second, DPP6 has an independent role in synaptic development and maintenance, regulating dendritic filopodia formation 4. Despite possessing structural similarity to dipeptidyl peptidases, DPP6 lacks enzymatic activity 5. DPP6 dysfunction is implicated in multiple neurological disorders. DPP6 knockout mice exhibit impaired hippocampal-dependent learning and memory with reduced brain size 6. Aging DPP6-deficient mice develop Alzheimer's disease-like pathology, including amyloid-β and phosphorylated tau accumulation, neuroinflammation, and circadian dysfunction 7. The DPP6 rs10260404 polymorphism is associated with increased sporadic amyotrophic lateral sclerosis risk in Caucasian populations 8. Additionally, DPP6 genetic variants have been associated with tardive dyskinesia in schizophrenia patients 9. These findings establish DPP6 as a multifunctional protein critical for both ion channel regulation and synaptic homeostasis, with dysfunction contributing to neurodegenerative and neuropsychiatric disease pathogenesis.

Sources cited
1
DPP6 promotes cell surface expression of KCND2
PMID: 15454437
2
DPP6 modulates activity and gating characteristics of KCND2
PMID: 18364354
3
DPP6 interacts with voltage-sensing domain S1-S2 helices of Kv4.2 to stabilize conformation and accelerate voltage-dependent S4 movement
PMID: 34552243
4
DPP6 has independent role in synaptic development and maintenance via dendritic filopodia regulation
PMID: 36012450
5
DPP6 has no dipeptidyl aminopeptidase activity
PMID: 15476821
6
DPP6 knockout mice show impaired hippocampal-dependent learning and memory with reduced brain size
PMID: 29651237
7
Aging DPP6-knockout mice develop Alzheimer's disease-like pathology with amyloid-β and phosphorylated tau accumulation, neuroinflammation, and circadian dysfunction
PMID: 36209950
8
DPP6 rs10260404 polymorphism is associated with increased sporadic amyotrophic lateral sclerosis risk in Caucasian populations
PMID: 38381392
9
DPP6 genetic variants are associated with tardive dyskinesia in schizophrenia patients
PMID: 29528898
Disease Associationsⓘ22
Autosomal dominant microcephalyOpen Targets
0.62Moderate
Idiopathic ventricular fibrillation, not Brugada typeOpen Targets
0.49Moderate
alcohol drinkingOpen Targets
0.45Moderate
paroxysmal familial ventricular fibrillationOpen Targets
0.37Weak
autosomal dominant primary microcephalyOpen Targets
0.37Weak
injuryOpen Targets
0.36Weak
dermatomycosisOpen Targets
0.32Weak
mood disorderOpen Targets
0.31Weak
Pancreatic pseudocystOpen Targets
0.28Weak
crush injuryOpen Targets
0.28Weak
humerus fractureOpen Targets
0.28Weak
smoking initiationOpen Targets
0.27Weak
Abruptio PlacentaeOpen Targets
0.27Weak
ulcerative colitisOpen Targets
0.27Weak
bilirubin metabolism diseaseOpen Targets
0.26Weak
Increased total eosinophil countOpen Targets
0.26Weak
chondromalaciaOpen Targets
0.25Weak
device complicationOpen Targets
0.25Weak
refractive errorOpen Targets
0.25Weak
ShockOpen Targets
0.25Weak
Familial paroxysmal ventricular fibrillation 2UniProt
Intellectual developmental disorder, autosomal dominant 33UniProt
Pathogenic Variants3
NM_130797.4(DPP6):c.1153A>C (p.Met385Leu)Pathogenic
Intellectual disability, autosomal dominant 33
☆☆☆☆2013→ Residue 385
NC_000007.13:g.153649777_153985995delPathogenic
Intellectual disability, autosomal dominant 33
☆☆☆☆2013
NM_130797.4(DPP6):c.244-141059C>TPathogenic
Ventricular fibrillation, paroxysmal familial, 2|not provided
☆☆☆☆2009
View on ClinVar ↗
Related Genes
KCNIP1Protein interaction100%KCNIP2Protein interaction99%KCND3Protein interaction93%KCND2Protein interaction93%KCNC1Protein interaction90%AMPHProtein interaction89%
Tissue Expression6 tissues
Brain
100%
Heart
2%
Lung
1%
Ovary
1%
Liver
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
DPP6KCNIP1KCNIP2KCND3KCND2KCNC1AMPH
PROTEIN STRUCTURE
Preparing viewer…
PDB7UKG · 2.24 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.75LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.60 [0.48–0.75]
RankingsWhere DPP6 stands among ~20K protein-coding genes
  • #6,538of 20,598
    Most Researched72
  • #4,029of 5,498
    Most Pathogenic Variants3
  • #5,946of 17,882
    Most Constrained (LOEUF)0.75
Genes detectedDPP6
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Association between DPP6 gene rs10260404 polymorphism and increased risk of sporadic amyotrophic lateral sclerosis (sALS): a meta-analysis.
PMID: 38381392
Neurol Sci · 2024
1.00
2
Cervical cancer screening using DNA methylation triage in a real-world population.
PMID: 38834848
Nat Med · 2024
0.90
3
Neuronal Roles of the Multifunctional Protein Dipeptidyl Peptidase-like 6 (DPP6).
PMID: 36012450
Int J Mol Sci · 2022
0.80
4
Structural basis of gating modulation of Kv4 channel complexes.
PMID: 34552243
Nature · 2021
0.70
5
DPP6 Loss Impacts Hippocampal Synaptic Development and Induces Behavioral Impairments in Recognition, Learning and Memory.
PMID: 29651237
Front Cell Neurosci · 2018
0.60