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Gene id

7122

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

CLDN5 Gene UCSC Ensembl

Aliases

AWAL, BEC1, CPETRL1, TMVCF

Gene name

claudin 5

Alternate names

claudin-5, TMDVCF, transmembrane protein deleted in VCFS, transmembrane protein deleted in velocardiofacial syndrome,

Gene location

22q11.21 (19527544: 19523023) Exons: 2 NC_000022.11

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 paracellular space between epithelial or endothelial cell sheets. Mutations in this gene have been found in patients with velocardiofacial syndrome. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2008]

OMIM

602101

Protein Summary

Protein general information

O00501

Name: Claudin 5 (Transmembrane protein deleted in VCFS) (TMDVCF)

Length: 218 Mass: 23,147

Sequence

MGSAALEILGLVLCLVGWGGLILACGLPMWQVTAFLDHNIVTAQTTWKGLWMSCVVQSTGHMQCKVYDSVLALST
EVQAARALTVSAVLLAFVALFVTLAGAQCTTCVAPGPAKARVALTGGVLYLFCGLLALVPLCWFANIVVREFYDP
SVPVSQKYELGAALYIGWAATALLMVGGCLLCCGAWVCTGRPDLSFPVKYSAPRRPTATGDYDKKNYV

Structural information

Interpro:	IPR006187 IPR003551 IPR017974 IPR004031
Prosite:	PS01346
Pfam:	PF00822
STRING:	ENSP00000384554;

Other Databases

GeneCards: CLDN5; Malacards: CLDN5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003151	outflow tract morphogenes is	TAS	biological_process
GO:0005198	structural molecule activ ity	IEA	molecular_function
GO:0005911	cell-cell junction	IDA	cellular_component
GO:0005911	cell-cell junction	IDA	cellular_component
GO:0005911	cell-cell junction	IDA	cellular_component
GO:0005911	cell-cell junction	IDA	cellular_component
GO:0005923	bicellular tight junction	ISS	cellular_component
GO:0005923	bicellular tight junction	IDA	cellular_component
GO:0005923	bicellular tight junction	IDA	cellular_component
GO:0007043	cell-cell junction assemb ly	IMP	biological_process
GO:0007179	transforming growth facto r beta receptor signaling pathway	IDA	biological_process
GO:0007612	learning	TAS	biological_process
GO:0016021	integral component of mem brane	TAS	cellular_component
GO:0016021	integral component of mem brane	NAS	cellular_component
GO:0016327	apicolateral plasma membr ane	IDA	cellular_component
GO:0016338	calcium-independent cell- cell adhesion via plasma membrane cell-adhesion mo lecules	ISS	biological_process
GO:0042802	identical protein binding	ISS	molecular_function
GO:0060021	palate development	TAS	biological_process
GO:0060325	face morphogenesis	TAS	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:1903142	positive regulation of es tablishment of endothelia l barrier	IMP	biological_process
GO:0030864	cortical actin cytoskelet on	IDA	cellular_component
GO:0003151	outflow tract morphogenes is	TAS	biological_process
GO:0005198	structural molecule activ ity	IEA	molecular_function
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005911	cell-cell junction	IDA	cellular_component
GO:0005911	cell-cell junction	IDA	cellular_component
GO:0005911	cell-cell junction	IDA	cellular_component
GO:0005911	cell-cell junction	IDA	cellular_component
GO:0005923	bicellular tight junction	IEA	cellular_component
GO:0005923	bicellular tight junction	ISS	cellular_component
GO:0005923	bicellular tight junction	IEA	cellular_component
GO:0005923	bicellular tight junction	IEA	cellular_component
GO:0005923	bicellular tight junction	IDA	cellular_component
GO:0005923	bicellular tight junction	IDA	cellular_component
GO:0007043	cell-cell junction assemb ly	IMP	biological_process
GO:0007179	transforming growth facto r beta receptor signaling pathway	IDA	biological_process
GO:0007612	learning	TAS	biological_process
GO:0016020	membrane	IEA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0016021	integral component of mem brane	TAS	cellular_component
GO:0016021	integral component of mem brane	NAS	cellular_component
GO:0016327	apicolateral plasma membr ane	IDA	cellular_component
GO:0016338	calcium-independent cell- cell adhesion via plasma membrane cell-adhesion mo lecules	ISS	biological_process
GO:0030054	cell junction	IEA	cellular_component
GO:0042802	identical protein binding	ISS	molecular_function
GO:0060021	palate development	TAS	biological_process
GO:0060325	face morphogenesis	TAS	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:1903142	positive regulation of es tablishment of endothelia l barrier	IMP	biological_process
GO:0030864	cortical actin cytoskelet on	IDA	cellular_component
GO:0003151	outflow tract morphogenes is	TAS	biological_process
GO:0005911	cell-cell junction	IDA	cellular_component
GO:0005911	cell-cell junction	IDA	cellular_component
GO:0005911	cell-cell junction	IDA	cellular_component
GO:0005911	cell-cell junction	IDA	cellular_component
GO:0005923	bicellular tight junction	ISS	cellular_component
GO:0005923	bicellular tight junction	IDA	cellular_component
GO:0005923	bicellular tight junction	IDA	cellular_component
GO:0007043	cell-cell junction assemb ly	IMP	biological_process
GO:0007179	transforming growth facto r beta receptor signaling pathway	IDA	biological_process
GO:0007612	learning	TAS	biological_process
GO:0016021	integral component of mem brane	TAS	cellular_component
GO:0016021	integral component of mem brane	NAS	cellular_component
GO:0016327	apicolateral plasma membr ane	IDA	cellular_component
GO:0016338	calcium-independent cell- cell adhesion via plasma membrane cell-adhesion mo lecules	ISS	biological_process
GO:0042802	identical protein binding	ISS	molecular_function
GO:0060021	palate development	TAS	biological_process
GO:0060325	face morphogenesis	TAS	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:1903142	positive regulation of es tablishment of endothelia l barrier	IMP	biological_process
GO:0030864	cortical actin cytoskelet on	IDA	cellular_component

KEGG pathways

hsa04514  Cell adhesion molecules
hsa05160  Hepatitis C
hsa04670  Leukocyte transendothelial migration
hsa04530  Tight junction

Diseases

Associated diseases	References
Endometriosis	PMID: 18850381
Schizophrenia	PMID: 16181776
Endometriosis	INFBASE18850381

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
18850381	Endometrio sis					claudin-3 claudin-4 claudin-7 claudin-5	Show abstract