CLDN5
Claudin-5
Also known as: AWAL, BEC1, CLD5_HUMAN, CPETRL1, TMVCF
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O00501
- Gene
- CLDN5
- Ensembl
- ENSG00000184113
- Chromosome
- 22
- Canonical length
- 218 aa
- Protein class
- Predicted membrane proteins, Transporters
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
218 residues, UniProt reviewed canonical sequence.
>O00501|CLDN5
1 MGSAALEILG LVLCLVGWGG LILACGLPMW QVTAFLDHNI VTAQTTWKGL WMSCVVQSTG
61 HMQCKVYDSV LALSTEVQAA RALTVSAVLL AFVALFVTLA GAQCTTCVAP GPAKARVALT
121 GGVLYLFCGL LALVPLCWFA NIVVREFYDP SVPVSQKYEL GAALYIGWAA TALLMVGGCL
181 LCCGAWVCTG RPDLSFPVKY SAPRRPTATG DYDKKNYVLocalizationUniProt · AlphaFold · HPA
Whether an antibody against CLDN5 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 4
- Mean surface accessibility (rSASA)
- 0.34
- Highest tissue expression
- 424 nTPM
Expression across tissuesHPA
Tissue
- adipose tissue: 424 nTPM
- breast: 412 nTPM
- choroid plexus: 407 nTPM
- lung: 384 nTPM
- midbrain: 189 nTPM
- basal ganglia: 176 nTPM
Single-cell type
- lymphatic endothelial cells: 1,227 nCPM
- vascular endothelial cells: 711 nCPM
- platelets: 627 nCPM
- podocytes: 109 nCPM
- megakaryocytes: 93 nCPM
- respiratory ionocytes: 84 nCPM
Immune cell
- total PBMC: 28 nTPM
- basophil: 19 nTPM
- neutrophil: 5.9 nTPM
- naive CD4 T-cell: 4.8 nTPM
- classical monocyte: 0.4 nTPM
- memory CD8 T-cell: 0.3 nTPM
Brain region
- choroid plexus: 330 nTPM
- thalamus: 244 nTPM
- pons: 170 nTPM
- amygdala: 161 nTPM
- medulla oblongata: 155 nTPM
- midbrain: 138 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about CLDN5.
Disease | GeneticClinVar
6 pathogenic / likely-pathogenic of 46 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- CLDN5-related neurodevelopmental disorder
- CLDN5-related hemiplegia, microcephaly and brain calcification
- Inborn genetic diseases
- Syndromic disease
- Neurodevelopmental disorder
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.41
- gnomAD pLI
- 0.9
- gnomAD missense Z
- 1.44
- DepMap mean gene effect
- 0.05
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- bicellular tight junction assembly
- calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules
- cell adhesion
- cell-cell junction assembly
- establishment of blood-retinal barrier
- face morphogenesis
- learning
- maintenance of blood-brain barrier
- myelination
- negative regulation of angiogenesis
- negative regulation of cell migration
- negative regulation of gene expression
- negative regulation of vascular permeability
- outflow tract morphogenesis
- positive regulation of bicellular tight junction assembly
- positive regulation of cell population proliferation
- positive regulation of establishment of endothelial barrier
- positive regulation of gene expression
- response to ethanol
- roof of mouth development
- tight junction assembly
- transforming growth factor beta receptor signaling pathway
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of CLDN5 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads CLDN5 as an antibody target. Whether an autoantibody or antibody against CLDN5 could matter depends on whether native CLDN5 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CLDN5 is annotated at the cell surface, where native CLDN5 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label CLDN5 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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