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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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OTOP3
otopetrin 3
Chromosome 17 · 17q25.1
NCBI Gene: 347741Ensembl: ENSG00000182938.8HGNC: HGNC:19658UniProt: Q7RTS5
6PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTransporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingproton channel activityidentical protein bindingproton transmembrane transportneurodegenerative diseasetibia, hypoplasia or aplasia of, with polydactylyAbsent tibia - polydactylyAcheiropodia
✦AI Summary

OTOP3 (otopetrin 3) encodes a proton-selective ion channel that is gated by extracellular protons and modulated by zinc ions 12. The channel exhibits pH-dependent activation, showing no significant activity at physiological pH (7.4) or mildly acidic conditions (pH 6.5), but can be activated by Zn2+ under these conditions without zinc permeation through the channel 2. OTOP3 belongs to an evolutionarily conserved gene family (OTOP1-3) with homologs in Drosophila, suggesting broad physiological roles 1. In colorectal cancer, OTOP3 functions as an oncogenic regulator by enhancing c-Myc protein stability and inhibiting ferroptosis through GPX4 regulation 3. OTOP3 downregulation is associated with colorectal adenoma compared to hyperplastic polyps 4, and its expression levels serve as a prognostic biomarker in stage IV colorectal cancer patients 56. The protein's role in cancer progression involves suppressing ferroptosis-mediated cell death while promoting metabolic reprogramming characteristic of the Warburg effect 3. These findings position OTOP3 as both a fundamental proton channel and a potential therapeutic target in colorectal cancer treatment.

Sources cited
1
OTOP3 encodes a proton-selective ion channel and belongs to evolutionarily conserved gene family
PMID: 29371428
2
OTOP3 channels are activated by Zn2+ under physiological pH conditions without zinc permeation
PMID: 37023615
3
OTOP3 functions as oncogenic regulator in colorectal cancer by stabilizing c-Myc and inhibiting ferroptosis
PMID: 40586985
4
OTOP3 is downregulated in colorectal adenoma compared to hyperplastic polyps
PMID: 34477243
5
OTOP3 expression serves as prognostic biomarker in stage IV colorectal cancer patients
PMID: 35587572
6
OTOP3 identified as biomarker in comprehensive analysis of colorectal cancer progression
PMID: 39484215
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.36Weak
Absent tibia - polydactylyOpen Targets
0.06Suggestive
tibia, hypoplasia or aplasia of, with polydactylyOpen Targets
0.06Suggestive
AcheiropodiaOpen Targets
0.05Suggestive
Acromesomelic dysplasia, Grebe typeOpen Targets
0.05Suggestive
Tibial aplasia - ectrodactylyOpen Targets
0.05Suggestive
Hypoplastic tibiae - postaxial polydactylyOpen Targets
0.05Suggestive
Blount diseaseOpen Targets
0.05Suggestive
tibial hemimeliaOpen Targets
0.05Suggestive
colorectal cancerOpen Targets
0.04Suggestive
Gollop-Wolfgang complexOpen Targets
0.04Suggestive
acheiropodyOpen Targets
0.04Suggestive
syndactyly type 4Open Targets
0.04Suggestive
acromesomelic dysplasia 2C, Hunter-Thompson typeOpen Targets
0.04Suggestive
Acromesomelic dysplasia, Hunter-Thomson typeOpen Targets
0.04Suggestive
laurin-Sandrow syndromeOpen Targets
0.04Suggestive
acromesomelic dysplasia 2AOpen Targets
0.04Suggestive
brachydactyly type A1Open Targets
0.04Suggestive
Leri-Weill dyschondrosteosisOpen Targets
0.04Suggestive
Léri-Weill dyschondrosteosisOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DMAC2LShared pathway100%OTOP2Shared pathway68%SLC15A1Shared pathway50%ATP5MC1Shared pathway50%ATP5MC2Shared pathway50%ATP5MC3Shared pathway50%
Tissue Expression6 tissues
Brain
100%
Heart
0%
Bone Marrow
0%
Ovary
0%
Liver
0%
Lung
0%
Gene Interaction Network
Click a node to explore
OTOP3DMAC2LOTOP2SLC15A1ATP5MC1ATP5MC2ATP5MC3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q7RTS5
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.05LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.81 [0.63–1.05]
RankingsWhere OTOP3 stands among ~20K protein-coding genes
  • #18,175of 20,598
    Most Researched6
  • #10,514of 17,882
    Most Constrained (LOEUF)1.05
Genes detectedOTOP3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Preferential allosteric modulation of Otop1 channels by small molecule compounds.
PMID: 40011703
Commun Biol · 2025
1.00
2
COADREADx: A comprehensive algorithmic dissection of colorectal cancer unravels salient biomarkers and actionable insights into its discrete progression.
PMID: 39484215
PeerJ · 2024
0.90
3
OTOP3 functions as an oncogenic regulator of ferroptosis-mediated colorectal cancer progression.
PMID: 40586985
Genes Genomics · 2025
0.80
4
Prognosis prediction of stage IV colorectal cancer patients by mRNA transcriptional profile.
PMID: 35587572
Cancer Med · 2022
0.70
5
Activation of mouse Otop3 proton channels by Zn
PMID: 37023615
Biochem Biophys Res Commun · 2023
0.60