Human Gene CLDN5 (ENST00000618236.2) from GENCODE V44
  Description: Homo sapiens claudin 5 (CLDN5), transcript variant 4, mRNA. (from RefSeq NM_001363066)
RefSeq Summary (NM_001363066): 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. Mutations in this gene have been found in patients with velocardiofacial syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2018].
Gencode Transcript: ENST00000618236.2
Gencode Gene: ENSG00000184113.10
Transcript (Including UTRs)
   Position: hg38 chr22:19,523,027-19,524,410 Size: 1,384 Total Exon Count: 1 Strand: -
Coding Region
   Position: hg38 chr22:19,523,599-19,524,255 Size: 657 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr22:19,523,027-19,524,410)mRNA (may differ from genome)Protein (218 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDMalacardsMGIneXtProtOMIM
PubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CLD5_HUMAN
DESCRIPTION: RecName: Full=Claudin-5; AltName: Full=Transmembrane protein deleted in VCFS; Short=TMDVCF;
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 MPDZ (By similarity).
SUBCELLULAR LOCATION: Cell junction, tight junction. Cell membrane; Multi-pass membrane protein.
SIMILARITY: Belongs to the claudin family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CLDN5
Diseases sorted by gene-association score: velocardiofacial syndrome (12), gray platelet syndrome (2)

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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 106.90 RPKM in Adipose - Subcutaneous
Total median expression: 1134.95 RPKM



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

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -75.70155-0.488 Picture PostScript Text
3' UTR -258.90572-0.453 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
IPR003551 - Claudin5
IPR017974 - Claudin_CS
IPR004031 - PMP22/EMP/MP20/Claudin

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

ModBase Predicted Comparative 3D Structure on O00501
FrontTopSide
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
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005198 structural molecule activity
GO:0042802 identical protein binding

Biological Process:
GO:0003151 outflow tract morphogenesis
GO:0007043 cell-cell junction assembly
GO:0007179 transforming growth factor beta receptor signaling pathway
GO:0007612 learning
GO:0016338 calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules
GO:0060021 palate development
GO:0060325 face morphogenesis
GO:1903142 positive regulation of establishment of endothelial barrier
GO:2000810 regulation of bicellular tight junction assembly

Cellular Component:
GO:0005886 plasma membrane
GO:0005911 cell-cell junction
GO:0005923 bicellular tight junction
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016327 apicolateral plasma membrane
GO:0030054 cell junction
GO:0030864 cortical actin cytoskeleton


-  Descriptions from all associated GenBank mRNAs
  AF000959 - Homo sapiens transmembrane protein mRNA, complete cds.
BC002404 - Homo sapiens claudin 5, mRNA (cDNA clone MGC:8543 IMAGE:2822745), complete cds.
BC019290 - Homo sapiens claudin 5, mRNA (cDNA clone MGC:4051 IMAGE:2822745), complete cds.
BC032363 - Homo sapiens claudin 5, mRNA (cDNA clone MGC:40358 IMAGE:5242567), complete cds.
AK092561 - Homo sapiens cDNA FLJ35242 fis, clone PROST2002651, highly similar to CLAUDIN-5.
AK124019 - Homo sapiens cDNA FLJ42025 fis, clone SPLEN2036326, highly similar to CLAUDIN-5.
JD519155 - Sequence 500179 from Patent EP1572962.
JD324867 - Sequence 305891 from Patent EP1572962.
JD286140 - Sequence 267164 from Patent EP1572962.
JD219849 - Sequence 200873 from Patent EP1572962.
JD219848 - Sequence 200872 from Patent EP1572962.
AK222466 - Homo sapiens mRNA for claudin 5 variant, clone: adKA02848.
JD200867 - Sequence 181891 from Patent EP1572962.
JD297480 - Sequence 278504 from Patent EP1572962.
CR456420 - Homo sapiens CLDN5 full length open reading frame (ORF) cDNA clone (cDNA clone C22ORF:pGEM.CLDN5.V3).
JD129763 - Sequence 110787 from Patent EP1572962.
JD464807 - Sequence 445831 from Patent EP1572962.
JD407758 - Sequence 388782 from Patent EP1572962.
JD107799 - Sequence 88823 from Patent EP1572962.
JD452347 - Sequence 433371 from Patent EP1572962.
CU012981 - Homo sapiens CLDN5, mRNA (cDNA clone IMAGE:100000142), complete cds, with stop codon, in Gateway system.
BT007254 - Homo sapiens claudin 5 (transmembrane protein deleted in velocardiofacial syndrome) mRNA, complete cds.
CU013269 - Homo sapiens CLDN5, mRNA (cDNA clone IMAGE:100000046), complete cds, without stop codon, in Gateway system.
AB528106 - Synthetic construct DNA, clone: pF1KE0494, Homo sapiens CLDN5 gene for claudin 5, without stop codon, in Flexi system.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein O00501 (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-8935964 RUNX1 regulates expression of components of tight junctions
R-HSA-420029 Tight junction interactions
R-HSA-8878171 Transcriptional regulation by RUNX1
R-HSA-421270 Cell-cell junction organization
R-HSA-212436 Generic Transcription Pathway
R-HSA-446728 Cell junction organization
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-1500931 Cell-Cell communication
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: AWAL, B3KS11, CLD5_HUMAN, ENST00000618236.1, NM_001363066, O00501, Q53XW2, Q8WUW3, TMVCF, uc062bmp.1, uc062bmp.2
UCSC ID: ENST00000618236.2
RefSeq Accession: NM_001363066
Protein: O00501 (aka CLD5_HUMAN)

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