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 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr7:73,245,193-73,247,015)mRNA (may differ from genome)Protein (209 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
neXtProtOMIMPubMedReactomeStanford SOURCETreefam

-  Comments and Description Text from UniProtKB
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="";

-  MalaCards Disease Associations
  MalaCards Gene Search: CLDN4
Diseases sorted by gene-association score: williams-beuren syndrome (10), gastric adenocarcinoma (4), ovarian cancer, somatic (4), peritoneal serous papillary adenocarcinoma (3), pancreatic cancer (3), peritoneal serous adenocarcinoma (2), stomach cancer (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 91.28 RPKM in Colon - Transverse
Total median expression: 538.68 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -109.79339-0.324 Picture PostScript Text
3' UTR -391.92854-0.459 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR006187 - Claudin
IPR003550 - Claudin4
IPR017974 - Claudin_CS
IPR004031 - PMP22/EMP/MP20/Claudin

Pfam Domains:
PF00822 - PMP-22/EMP/MP20/Claudin family
PF13903 - PMP-22/EMP/MP20/Claudin tight junction

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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 Protein SequenceProtein Sequence   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004888 transmembrane signaling receptor activity
GO:0005198 structural molecule activity
GO:0005254 chloride channel activity
GO:0042802 identical protein binding

Biological Process:
GO:0006811 ion transport
GO:0006821 chloride transport
GO:0007165 signal transduction
GO:0007565 female pregnancy
GO:0007623 circadian rhythm
GO:0016338 calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules
GO:0032570 response to progesterone
GO:0061436 establishment of skin barrier
GO:0070293 renal absorption
GO:1902476 chloride transmembrane transport

Cellular Component:
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0005923 bicellular tight junction
GO:0009925 basal plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016324 apical plasma membrane
GO:0016327 apicolateral plasma membrane
GO:0016328 lateral plasma membrane
GO:0030054 cell junction
GO:0034707 chloride channel complex

-  Descriptions from all associated GenBank mRNAs
  AK126462 - Homo sapiens cDNA FLJ44498 fis, clone UTERU3000645, highly similar to Claudin-4.
AK126315 - Homo sapiens cDNA FLJ44338 fis, clone TRACH3004786, highly similar to Claudin-4.
AK026651 - Homo sapiens cDNA: FLJ22998 fis, clone KAT11985, highly similar to AB000712 Homo sapiens hCPE-R mRNA for CPE-receptor.
AK124076 - Homo sapiens cDNA FLJ42082 fis, clone TCERX2000171, highly similar to CLAUDIN-4.
LF206974 - JP 2014500723-A/14477: Polycomb-Associated Non-Coding RNAs.
BC000671 - Homo sapiens claudin 4, mRNA (cDNA clone MGC:1778 IMAGE:3349211), complete cds.
JD437285 - Sequence 418309 from Patent EP1572962.
AB000712 - Homo sapiens hCPE-R mRNA for CPE-receptor, complete cds.
JD512915 - Sequence 493939 from Patent EP1572962.
JD190897 - Sequence 171921 from Patent EP1572962.
JD069334 - Sequence 50358 from Patent EP1572962.
EU831527 - Synthetic construct Homo sapiens clone HAIB:100066556; DKFZo004C1118 claudin 4 protein (CLDN4) gene, encodes complete protein.
EU831435 - Synthetic construct Homo sapiens clone HAIB:100066464; DKFZo008C1117 claudin 4 protein (CLDN4) gene, encodes complete protein.
BT006989 - Homo sapiens claudin 4 mRNA, complete cds.
KJ896635 - Synthetic construct Homo sapiens clone ccsbBroadEn_06029 CLDN4 gene, encodes complete protein.
JD059043 - Sequence 40067 from Patent EP1572962.
LF359835 - JP 2014500723-A/167338: Polycomb-Associated Non-Coding RNAs.
CS123434 - Sequence 5 from Patent WO2005058362.
JD325995 - Sequence 307019 from Patent EP1572962.
JD549839 - Sequence 530863 from Patent EP1572962.
JD519761 - Sequence 500785 from Patent EP1572962.
JD480692 - Sequence 461716 from Patent EP1572962.
JD123829 - Sequence 104853 from Patent EP1572962.
JD057847 - Sequence 38871 from Patent EP1572962.
JD172625 - Sequence 153649 from Patent EP1572962.
JD406342 - Sequence 387366 from Patent EP1572962.
JD197239 - Sequence 178263 from Patent EP1572962.
JD080767 - Sequence 61791 from Patent EP1572962.
JD222633 - Sequence 203657 from Patent EP1572962.
JD053378 - Sequence 34402 from Patent EP1572962.
JD386652 - Sequence 367676 from Patent EP1572962.
JD134840 - Sequence 115864 from Patent EP1572962.
JD351226 - Sequence 332250 from Patent EP1572962.
JD124934 - Sequence 105958 from Patent EP1572962.
JD346010 - Sequence 327034 from Patent EP1572962.
JD484849 - Sequence 465873 from Patent EP1572962.
JD040267 - Sequence 21291 from Patent EP1572962.
JD318645 - Sequence 299669 from Patent EP1572962.
JD347331 - Sequence 328355 from Patent EP1572962.
JD162682 - Sequence 143706 from Patent EP1572962.
JD540235 - Sequence 521259 from Patent EP1572962.
JD472934 - Sequence 453958 from Patent EP1572962.
JD135260 - Sequence 116284 from Patent EP1572962.
LF359836 - JP 2014500723-A/167339: Polycomb-Associated Non-Coding RNAs.
MA442551 - JP 2018138019-A/14477: Polycomb-Associated Non-Coding RNAs.
MA595412 - JP 2018138019-A/167338: Polycomb-Associated Non-Coding RNAs.
MA595413 - JP 2018138019-A/167339: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04514 - Cell adhesion molecules (CAMs)
hsa04530 - Tight junction
hsa04670 - Leukocyte transendothelial migration

Reactome (by CSHL, EBI, and GO)

Protein O14493 (Reactome details) participates in the following event(s):

R-HSA-420019 Claudins create paired strands through homophilic and heterophilic cis and trans interactions
R-HSA-420029 Tight junction interactions
R-HSA-421270 Cell-cell junction organization
R-HSA-446728 Cell junction organization
R-HSA-1500931 Cell-Cell communication

-  Other Names for This Gene
  Alternate Gene Symbols: CLD4_HUMAN, CPER, CPETR1, NM_001305, NP_001296, O14493, WBSCR8
UCSC ID: uc003tzi.4
RefSeq Accession: NM_001305
Protein: O14493 (aka CLD4_HUMAN)
CCDS: CCDS5560.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_001305.3
exon count: 1CDS single in 3' UTR: no RNA size: 1846
ORF size: 630CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1460.00frame shift in genome: no % Coverage: 98.75
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.