CLDN23

Chr 8

claudin 23

Also known as: CLDNL, hCG1646163

NCBI Gene: 137075ENSG00000253958UniProt: Q96B33

This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. This gene is expressed in germinal center B-cells, placenta and stomach as well as in colon tumor. This gene is down-regulated in intestinal type gastric cancer. [provided by RefSeq, Aug 2010]

0
Active trials
124
Pathogenic / LP
208
ClinVar variants
7
Pubs (1 yr)
-0.8
Missense Z
1.75
LOEUF
Clinical Summary— CLDN23
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
124 Pathogenic / Likely Pathogenic· 80 VUS of 208 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.75LOEUF
pLI 0.000
Z-score 0.00
OE 1.00 (0.56–1.75)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.81Z-score
OE missense 1.17 (1.05–1.31)
208 obs / 177.5 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE1.00 (0.56–1.75)
0≤0.351.4
Missense OE1.17 (1.05–1.31)
0≤0.61.4
Synonymous OE1.25
0≤1.21.6
LoF obs/exp: 7 / 7.0Missense obs/exp: 208 / 177.5Syn Z: -1.89
GOFDN
DN
0.6648th %ile
GOF
0.76top 25%
LOF
0.3261th %ile

This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

GOFprediction above median
DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

208 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic120
Likely Pathogenic4
VUS80
Likely Benign4
120
Pathogenic
4
Likely Pathogenic
80
VUS
4
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
120
0
120
Likely Pathogenic
0
0
4
0
4
VUS
0
66
14
0
80
Likely Benign
0
3
1
0
4
Benign
0
0
0
0
0
Total0691390208

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

CLDN23 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
E74-like factor 4 promotes the proliferation, invasion, and migration of colorectal cancer cells via long non-coding RNA integrin subunit beta 8 antisense RNA 1-mediated histone H3 lysine 27 trimethylation modification.
Wang Q et al.·Asia Pac J Clin Oncol
2024
Claudin-23 reshapes epithelial tight junction architecture to regulate barrier function
Raya-Sandino A et al.·Nat Commun
2023
Identification of key claudin genes associated with survival prognosis and diagnosis in colon cancer through integrated bioinformatic analysis
Alghamdi RA et al.·Front Genet
2023
Acute myeloid leukemia cells adhere to bone marrow and acquire chemoresistance by downregulating UNC5B expression.
Teng T et al.·Front Oncol
2024
Microbial metabolite n-butyrate upregulates intestinal claudin-23 expression through SP1 and AMPK pathways in mouse colon and human intestinal Caco-2 cells.
Xu W et al.·Life Sci
2023Functional
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Association of a novel seven-gene expression signature with the disease prognosis in colon cancer patients.
Yang H et al.·Aging (Albany NY)
2019Cohort
Single Nucleotide Polymorphisms Associated With Motor Recovery in Patients With Nondisabling Stroke: GWAS Study.
Aldridge CM et al.·Neurology
2023Cohort
Integrative Gene Expression Profiling Analysis to Investigate Potential Prognostic Biomarkers for Colorectal Cancer.
Liu X et al.·Med Sci Monit
2020
Identification of a metabolic-immune signature associated with prognosis in colon cancer and exploration of potential predictive efficacy of immunotherapy response.
Xie Y et al.·Clin Exp Med
2025
Use of Tape Strips to Detect Immune and Barrier Abnormalities in the Skin of Children With Early-Onset Atopic Dermatitis.
Guttman-Yassky E et al.·JAMA Dermatol
2019
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients