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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,
  • TMDVCF,
  • 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


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Proteins

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SNPs

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Disease

0 Diseases

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Expression

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Other

80 SN Ps

5 Cross References

16 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results