CLDN4 Gene Summary [Human]
The protein encoded by this intronless gene belongs to the claudin family. Claudins are integral membrane proteins that are components of the epithelial cell tight junctions, which regulate movement of solutes and ions through the paracellular space. This protein is a high-affinity receptor for Clostridium perfringens enterotoxin (CPE) and may play a role in internal organ development and function during pre- and postnatal life. This gene is deleted in Williams-Beuren syndrome, a neurodevelopmental disorder affecting multiple systems. [provided by RefSeq, Sep 2013]
Details
| Type | Processed Transcript |
| Official Symbol | CLDN4 |
| Official Name | claudin 4 [Source:HGNC Symbol;Acc:HGNC:2046] |
| Ensembl ID | ENSG00000189143 |
| Bio databases IDs | |
| Aliases | claudin 4, Clostridium perfringens enterotoxin receptor 1, Williams-Beuren syndrome chromosomal region 8 protein |
| Synonyms | Cep-r, Claudin4, CPE1R, CPE-R, CPETR, CPETR1, hCPE-R, WBSCR8 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CLDN4 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- extracellular domain
- cytoplasmic domain
- PMP-22/EMP/MP20/Claudin family
- extracellular loop
- protein binding
- cytosolic tail domain
- identical protein binding
- transmembrane receptor
- YV domain
Pathways
Biological processes and signaling networks where the CLDN4 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- esophagogastric junction cancer
- lung adenocarcinoma
- lung adenocarcinoma formation
- uterine serous papillary cancer
- hypocalcemia
- epithelial cancer
- liver cancer
- lung carcinoma
- lung carcinoma process
- skin cancer
role in cell
- migration
- proliferation
- survival
- phosphorylation in
- cell death
- colony formation
- formation
- growth
- invasion
- barrier function
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- apicolateral membrane
- Cytoplasm
- cell surface
- cell borders
- cellular membrane
- intercellular junctions
- cell-cell contacts
- apical membrane
- basal membrane
- lateral plasma membrane
- tight junctions
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CLDN4 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- calcium-independent cell-cell adhesion
- renal absorption
- positive regulation of wound healing
- regulation of cell morphogenesis
- response to progesterone stimulus
- tight junction assembly
- female pregnancy
- cell adhesion
- circadian rhythm
- establishment of skin barrier
- positive regulation of cell migration
Cellular Component
Where in the cell the gene product is active
- chloride channel complex
- apicolateral plasma membrane
- basal plasma membrane
- tight junction
- lateral plasma membrane
- occluding junction
- cell-cell junction
- apical plasma membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding
- transmembrane signaling receptor activity
- structural molecule activity
- chloride channel activity