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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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KCNIP3
potassium voltage-gated channel interacting protein 3
Chromosome 2 · 2q11.1
NCBI Gene: 30818Ensembl: ENSG00000115041.15HGNC: HGNC:15523UniProt: Q9Y2W7
81PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTranscription FactorTransporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA polymerase II cis-regulatory region sequence-specific DNA bindingprotein bindingDNA-binding transcription repressor activity, RNA polymerase II-specificnegative regulation of transcription by RNA polymerase IIAlzheimer diseasecancersystemic sclerodermaSchnyder corneal dystrophy
✦AI Summary

KCNIP3 (potassium channel interacting protein 3) functions as a multifunctional regulator with roles in ion channel modulation, transcriptional control, and disease pathogenesis. Structurally, KCNIP3 belongs to the neuronal calcium sensor superfamily and exists as a calcium-binding protein with alternative splice variants that contribute to functional diversity across tissues and brain regions 1. The protein modulates A-type potassium channels and favors their surface expression while functioning as a transcriptional repressor 12. KCNIP3 interacts with presenilin-2 to modulate amyloid-beta formation and apoptotic processes, linking it to Alzheimer's disease pathology 2. In cancer biology, KCNIP3 demonstrates tumor-suppressive properties in papillary thyroid carcinoma, where silencing promotes cell proliferation and epithelial-mesenchymal transition through Wnt/β-catenin pathway activation 3. Conversely, KCNIP3 overexpression inhibits cancer cell viability and induces apoptosis while suppressing EMT 3. In rheumatoid arthritis, KCNIP3 emerges as a key protective factor and mediates the relationship between polyomavirus immune responses and RA development 4. Additionally, KCNIP3 expression is regulated by homoarginine and creatine metabolism in the brain, suggesting involvement in neuronal excitability and stroke pathology 5. KCNIP3 was also elevated in ALS patients receiving riluzole treatment 6, indicating potential pharmacodynamic responsiveness.

Sources cited
1
KCNIP3 modulates A-type potassium channels, functions as transcriptional repressor, shows alternative splicing, and is expressed in neurons with specific brain region patterns
PMID: 16112838
2
KCNIP3 (KChIP3) belongs to neuronal calcium sensor family, binds calcium via EF-hand motifs, and is involved in Alzheimer's disease and stroke pathology
PMID: 29063118
3
KCNIP3 acts as tumor suppressor in papillary thyroid carcinoma by inhibiting Wnt/β-catenin pathway, cell proliferation, EMT, and promoting apoptosis
PMID: 35066335
4
KCNIP3 is a protective factor in rheumatoid arthritis and mediates relationship between anti-polyomavirus immune responses and RA development
PMID: 40369022
5
KCNIP3 expression in brain is regulated by homoarginine and linked to neuronal excitability and stroke pathology
PMID: 32182846
6
Plasma KCNIP3 is elevated approximately 60% in ALS patients on riluzole treatment
PMID: 41020397
Disease Associationsⓘ20
Alzheimer diseaseOpen Targets
0.09Suggestive
cancerOpen Targets
0.08Suggestive
systemic sclerodermaOpen Targets
0.08Suggestive
Schnyder corneal dystrophyOpen Targets
0.07Suggestive
Blount diseaseOpen Targets
0.07Suggestive
Absent tibia - polydactylyOpen Targets
0.07Suggestive
tibia, hypoplasia or aplasia of, with polydactylyOpen Targets
0.07Suggestive
Huntington diseaseOpen Targets
0.07Suggestive
tibial hemimeliaOpen Targets
0.07Suggestive
colorectal carcinomaOpen Targets
0.06Suggestive
Hypoplastic tibiae - postaxial polydactylyOpen Targets
0.06Suggestive
AcheiropodiaOpen Targets
0.06Suggestive
Fibular aplasia - ectrodactylyOpen Targets
0.06Suggestive
fibular aplasia-ectrodactyly syndromeOpen Targets
0.06Suggestive
non-small cell lung carcinomaOpen Targets
0.06Suggestive
Tibial aplasia - ectrodactylyOpen Targets
0.05Suggestive
Acromesomelic dysplasia, Grebe typeOpen Targets
0.05Suggestive
metaphyseal anadysplasiaOpen Targets
0.05Suggestive
Gollop-Wolfgang complexOpen Targets
0.05Suggestive
acromesomelic dysplasia 2BOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
KCNC1Protein interaction99%KCND2Protein interaction99%PSEN2Protein interaction98%PSEN1Protein interaction94%CLN3Protein interaction89%KCND1Protein interaction87%
Tissue Expression6 tissues
Ovary
100%
Brain
84%
Heart
40%
Liver
24%
Lung
13%
Bone Marrow
9%
Gene Interaction Network
Click a node to explore
KCNIP3KCNC1KCND2PSEN2PSEN1CLN3KCND1
PROTEIN STRUCTURE
Preparing viewer…
PDB2E6W · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.25LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.91 [0.67–1.25]
RankingsWhere KCNIP3 stands among ~20K protein-coding genes
  • #5,868of 20,598
    Most Researched81
  • #13,173of 17,882
    Most Constrained (LOEUF)1.25
Genes detectedKCNIP3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Skeletal Muscle Biomarkers of Amyotrophic Lateral Sclerosis: A Large-Scale, Multi-Cohort Proteomic Study.
PMID: 41020397
Ann Neurol · 2026
1.00
2
Structure, alternative splicing, and expression of the human and mouse KCNIP gene family.
PMID: 16112838
Genomics · 2005
0.90
3
KCNIP3 silence promotes proliferation and epithelial-mesenchymal transition of papillary thyroid carcinoma through activating Wnt/β-catenin pathway.
PMID: 35066335
Tissue Cell · 2022
0.80
4
p53 regulates DREAM complex-mediated repression in a p21-independent manner.
PMID: 40038454
EMBO J · 2025
0.70
5
Dissecting immune-mediated pathways in rheumatoid arthritis: A multivariate mediation analysis of antibodies and circulating proteins.
PMID: 40369022
Sci Rep · 2025
0.60