• Gene id: 7122

Gene Summary

• Gene Symbol: CLDN5   Gene   UCSC   Ensembl
• Aliases: AWAL, BEC1, CPETRL1, TMDVCF, TMVCF
• Gene name: claudin 5
• Alternate names: claudin-5, transmembrane protein deleted in VCFS, transmembrane protein deleted in velocardiofacial syndrome,
• Gene location: 22q11.21 (89619164: 89156176)     Exons: 8     NC_000014.9
• Gene summary(Entrez): 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 paracellula
• OMIM: 602101

Protein Summary

• Protein general information: O00501  
  • Name: Claudin 5 (Transmembrane protein deleted in VCFS) (TMDVCF)
  • Length: 218  
  • Mass: 23147
• Sequence:

  MGSAALEILGLVLCLVGWGGLILACGLPMWQVTAFLDHNIVTAQTTWKGLWMSCVVQSTGHMQCKVYDSVLALST
  EVQAARALTVSAVLLAFVALFVTLAGAQCTTCVAPGPAKARVALTGGVLYLFCGLLALVPLCWFANIVVREFYDP
  SVPVSQKYELGAALYIGWAATALLMVGGCLLCCGAWVCTGRPDLSFPVKYSAPRRPTATGDYDKKNYV

• Structural information:
  • Interpro: IPR006187  IPR003551  IPR017974  IPR004031  
  • Prosite: PS01346
  • STRING: ENSP00000385477
• Other Databases: GeneCards:  CLDN5  Malacards:  CLDN5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005886	plasma membrane	IDA	cellular component
GO:0070160	tight junction	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1990963	establishment of blood-retinal barrier	IMP	biological process
GO:0008284	positive regulation of cell population proliferation	IMP	biological process
GO:0043116	negative regulation of vascular permeability	IMP	biological process
GO:1903348	positive regulation of bicellular tight junction assembly	IMP	biological process
GO:0120192	tight junction assembly	ISS	biological process
GO:0005911	cell-cell junction	IMP	cellular component
GO:0035633	maintenance of blood-brain barrier	IMP	biological process
GO:0035633	maintenance of blood-brain barrier	NAS	biological process
GO:0010628	positive regulation of gene expression	ISS	biological process
GO:0010628	positive regulation of gene expression	IMP	biological process
GO:0016525	negative regulation of angiogenesis	IMP	biological process
GO:0010629	negative regulation of gene expression	ISS	biological process
GO:0010629	negative regulation of gene expression	IMP	biological process
GO:0032092	positive regulation of protein binding	IMP	biological process
GO:0030336	negative regulation of cell migration	IMP	biological process
GO:0030336	negative regulation of cell migration	IMP	biological process
GO:0005923	bicellular tight junction	IBA	cellular component
GO:0070830	bicellular tight junction assembly	IBA	biological process
GO:0007155	cell adhesion	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0005198	structural molecule activity	IEA	molecular function
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:2000810	regulation of bicellular tight junction assembly	TAS	biological process
GO:0030054	cell junction	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005911	cell-cell junction	IDA	cellular component
GO:0005911	cell-cell junction	IDA	cellular component
GO:0005923	bicellular tight junction	IDA	cellular component
GO:0005911	cell-cell junction	IDA	cellular component
GO:0005911	cell-cell junction	IDA	cellular component
GO:0007179	transforming growth factor beta receptor signaling pathway	IDA	biological process
GO:0030864	cortical actin cytoskeleton	IDA	colocalizes with
GO:0005923	bicellular tight junction	IDA	cellular component
GO:0016327	apicolateral plasma membrane	IDA	cellular component
GO:0042802	identical protein binding	ISS	molecular function
GO:0016338	calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules	ISS	biological process
GO:0005923	bicellular tight junction	ISS	cellular component
GO:0016021	integral component of membrane	NAS	cellular component
GO:0016021	integral component of membrane	TAS	cellular component
GO:0060021	roof of mouth development	TAS	biological process
GO:0007043	cell-cell junction assembly	IMP	biological process
GO:1903142	positive regulation of establishment of endothelial barrier	IMP	biological process
GO:0003151	outflow tract morphogenesis	TAS	biological process
GO:0007612	learning	TAS	biological process
GO:0060325	face morphogenesis	TAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa05130	Pathogenic Escherichia coli infection
hsa04530	Tight junction
hsa04514	Cell adhesion molecules
hsa05160	Hepatitis C
hsa04670	Leukocyte transendothelial migration

Diseases

Associated diseases	References
Schizophrenia	PMID:15363474
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881