help  | about  | cite  | software

Gene : CLDN5 Homo sapiens

Name  ? claudin 5 Cytological Location  22q11.21
Brief Description  claudin 5
Description  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]
  • synonyms:
  • AF000959,
  • CPETRL1,
  • AWAL,
  • BEC1,
  • OTTHUMG00000150441,
  • TMVCF,
  • CPETRL1,
  • transmembrane protein deleted in velocardiofacial syndrome,
  • uc062bmp.1,
  • CLDN5,
  • TMVCF,
  • AWAL,
  • HGNC:2047,
  • NM_003277,
  • BEC1
  • identifiers:
  • 7122,
  • ENSG00000184113,
  • CLDN5

Genome feature

Region: gene ? Length: 2314  
Location: 22:19523024-19525337 reverse strand Cyto location: 22q11.21

Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer


Gene Ontology Displayer

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.


Gene --> Proteins.


Gene Report --> GWAS hit


0 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


Homologue Displayer


Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions


Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.



80 SN Ps

5 Cross References

16 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results