Human Gene CLDN4 (uc003tzi.4) Description and Page Index
Description: Homo sapiens claudin 4 (CLDN4), mRNA. RefSeq Summary (NM_001305): 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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Transcript (Including UTRs) Position: hg19 chr7:73,245,193-73,247,015 Size: 1,823 Total Exon Count: 1 Strand: + Coding Region Position: hg19 chr7:73,245,532-73,246,161 Size: 630 Coding Exon Count: 1
ID:CLD4_HUMAN DESCRIPTION: RecName: Full=Claudin-4; AltName: Full=Clostridium perfringens enterotoxin receptor; Short=CPE-R; Short=CPE-receptor; AltName: Full=Williams-Beuren syndrome chromosomal region 8 protein; FUNCTION: Plays a major role in tight junction-specific obliteration of the intercellular space (By similarity). SUBUNIT: Directly interacts with TJP1/ZO-1, TJP2/ZO-2 and TJP3/ZO- 3. Interacts with EPHA2; phosphorylates CLDN4 and may regulate tight junctions. SUBCELLULAR LOCATION: Cell junction, tight junction (By similarity). Cell membrane; Multi-pass membrane protein (By similarity). PTM: Phosphorylated. Phosphorylation by EPHA2 is stimulated by EFNA1 and alters interaction with TJP1. DISEASE: Note=CLDN4 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. SIMILARITY: Belongs to the claudin family. WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/CLDN4ID42975ch7q11.html";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O14493
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.