CLDN34: Claudin 34
A tight junction protein with potential roles in epithelial barrier function and cancer
Gene Information Card
| Symbol | CLDN34 |
|---|---|
| Full Name | claudin 34 |
| Gene Type | protein-coding |
| Chromosomal Location | Xq22.3 |
| NCBI Gene ID | 136288 ncbi.nlm.nih.gov/gene/136288 |
| Ensembl ID | ENSG00000182318 |
| UniProt ID | Q8N6P1 |
| OMIM ID | 300697 |
| HGNC ID | 20313 |
| Aliases | FLJ32709 |
Description
CLDN34 (claudin 34) is a protein-coding gene belonging to the claudin family, which are integral membrane proteins essential for tight junction formation and maintenance of epithelial and endothelial barrier function. The encoded protein is predicted to have four transmembrane domains and two extracellular loops, characteristic of claudins. CLDN34 is primarily expressed in certain epithelial tissues and may play a role in cell adhesion and paracellular transport regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered CLDN34 expression may disrupt tight junction integrity, contributing to tumor progression and metastasis. | COSMIC; literature reports of differential expression in colorectal, breast, and lung cancers. |
| Inflammatory bowel disease (potential) | Dysregulation of tight junction proteins including claudins can compromise intestinal barrier function. | Inferred from claudin family function; direct evidence limited. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 0.8 | Low |
| Testis | 0.6 | Low |
| Lung | 0.4 | Low |
| Colon | 0.3 | Low |
| Breast | 0.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 0.5 | Embryonic kidney cell line; low expression |
| MCF7 | 0.3 | Breast cancer cell line; low expression |
| A549 | 0.4 | Lung cancer cell line; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.1% | Potential loss of start codon; effect unknown |
| c.100C>T (p.Arg34Trp) | missense | <0.1% | Substitution in extracellular loop; functional impact unclear |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Tight junction (KEGG: hsa04530)
• Cell adhesion molecules (CAMs) (KEGG: hsa04514)
Protein Summary
Claudin 34 is a 224-amino acid protein with four transmembrane domains, two extracellular loops, and intracellular N- and C-termini. It localizes to tight junctions and contributes to paracellular barrier function. The protein is predicted to interact with other claudins and scaffolding proteins such as ZO-1. Expression is low in most normal tissues, with highest levels in kidney and testis. Structural modeling suggests a role in ion-selective pore formation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CLDN34 Knockout HEK293 Cell Line | EDJ-KQ12932 | Human | 100288814 | Details Get a Quote |
| CLDN34 Knockout HeLa Cell Line | EDJ-KQ60879 | Human | 100288814 | Details Get a Quote |
| CLDN34 Knockout A-549 Cell Line | EDJ-KQ69352 | Human | 100288814 | Details Get a Quote |
| CLDN34 Knockout HCT 116 Cell Line | EDJ-KQ77706 | Human | 100288814 | Details Get a Quote |
