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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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OTOP2
otopetrin 2
Chromosome 17 · 17q25.1
NCBI Gene: 92736Ensembl: ENSG00000183034.14HGNC: HGNC:19657UniProt: Q7RTS6
5PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTransporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingproton channel activityproton transmembrane transportplasma membraneUsher syndrome type 1Usher syndromegenetic disorderMeniere disease
✦AI Summary

OTOP2 is a proton-selective ion channel expressed in specialized intestinal epithelial cells that functions as a pH sensor and regulator of luminal pH. The channel conducts protons across cell membranes and is active at neutral and alkaline extracellular pH 1. Structurally, OTOP2 forms a dimer with a double-barrel architecture; proton conduction occurs through an inter-barrel, Glu/His-bridged pathway within each subunit, with inter-subunit movements at the dimer interface regulating channel activity 2. OTOP2 is a marker gene of BEST4+ absorptive cells, a recently identified human intestinal epithelial cell lineage absent in mice 3. These specialized cells likely function in pH sensing, electrolyte secretion, and innate immune defense. Clinically, OTOP2 hypermethylation in circulating cell-free DNA serves as a diagnostic biomarker for esophageal cancer detection, with blood-based assays targeting OTOP2 methylation achieving 87.4% sensitivity and 93.3% specificity 45. In inflammatory bowel disease, BEST4+OTOP2+ cells are reduced during active ulcerative colitis and associate with myeloid cell infiltration and anti-TNF therapy non-response 61. Rare OTOP2 variants have been identified in patients with Meniere's disease 7. Small molecule allosteric modulators selectively target OTOP1 while sparing OTOP2, indicating distinct pharmacological properties among otopetrin family members 8.

Sources cited
1
OTOP2 is expressed in a previously unknown absorptive cell type at the top of colonic crypts that senses pH and is dysregulated in inflammation and cancer
PMID: 30814735
2
OTOP2 is a marker gene of BEST4+ absorptive cells with putative roles in pH sensing, electrolyte transport, and innate immunity; BEST4+ cells are absent in mice
PMID: 38557358
3
OTOP2 forms a dimer with double-barrel architecture; proton conduction occurs through Glu/His-bridged inter-barrel pathway with inter-subunit movements regulating activity
PMID: 39179582
4
OTOP2 methylation in cell-free DNA is a diagnostic marker for esophageal cancer with 87.4% sensitivity and 93.3% specificity
PMID: 38890756
5
OTOP2 methylation in cell-free DNA is an ESCC-specific marker with AUC of 0.88-0.91 and sensitivity of 78-85% for early detection
PMID: 37650127
6
Reduced frequencies of BEST4+OTOP2+ absorptive cells associate with disease severity and anti-TNF therapy non-response in ulcerative colitis
PMID: 37333091
7
Rare OTOP2 variants were identified in three adult patients with Meniere's disease
PMID: 37107589
8
Small molecule allosteric modulators preferentially target OTOP1 while sparing OTOP2 and OTOP3
PMID: 40011703
Disease Associationsⓘ20
Usher syndrome type 1Open Targets
0.51Moderate
Usher syndromeOpen Targets
0.51Moderate
genetic disorderOpen Targets
0.17Weak
Meniere diseaseOpen Targets
0.12Weak
optic atrophyOpen Targets
0.12Weak
Retinal dystrophyOpen Targets
0.11Weak
colorectal carcinomaOpen Targets
0.08Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.06Suggestive
colorectal adenocarcinomaOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.05Suggestive
ulcerative colitisOpen Targets
0.05Suggestive
esophageal squamous cell carcinomaOpen Targets
0.03Suggestive
esophageal adenocarcinomaOpen Targets
0.03Suggestive
colorectal cancerOpen Targets
0.03Suggestive
Crohn's diseaseOpen Targets
0.02Suggestive
psoriasisOpen Targets
0.02Suggestive
breast carcinomaOpen Targets
0.02Suggestive
cancerOpen Targets
0.01Suggestive
colon adenocarcinomaOpen Targets
0.01Suggestive
esophageal cancerOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DMAC2LShared pathway100%BEST4Protein interaction75%OTOP3Shared pathway68%SLC15A1Shared pathway50%ATP5MC1Shared pathway50%ATP5MC2Shared pathway50%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
0%
Lung
0%
Brain
0%
Ovary
0%
Liver
0%
Gene Interaction Network
Click a node to explore
OTOP2DMAC2LBEST4OTOP3SLC15A1ATP5MC1ATP5MC2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q7RTS6
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.15LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.89 [0.69–1.15]
RankingsWhere OTOP2 stands among ~20K protein-coding genes
  • #18,456of 20,598
    Most Researched5
  • #11,974of 17,882
    Most Constrained (LOEUF)1.15
Genes detectedOTOP2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Colonic epithelial cell diversity in health and inflammatory bowel disease.
PMID: 30814735
Nature · 2019
1.00
2
BEST4
PMID: 38557358
Am J Physiol Cell Physiol · 2024
0.90
3
Non-invasive diagnosis of esophageal cancer by a simplified circulating cell-free DNA methylation assay targeting OTOP2 and KCNA3: a double-blinded, multicenter, prospective study.
PMID: 38890756
J Hematol Oncol · 2024
0.80
4
Genome-wide methylation profiling identified methylated KCNA3 and OTOP2 as promising diagnostic markers for esophageal squamous cell carcinoma.
PMID: 37650127
Chin Med J (Engl) · 2024
0.70
5
Myeloid cell influx into the colonic epithelium is associated with disease severity and non-response to anti-Tumor Necrosis Factor Therapy in patients with Ulcerative Colitis.
PMID: 37333091
bioRxiv · 2023
0.60