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CLDN5 - claudin 5 Gene

Also Known as AWAL; BEC1; TMVCF; TMDVCF; CPETRL1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 7122

About CLDN5

Cytogenetic location: 22q11.21 Genomic coordinates (GRCh38): 22:19,523,024-19,525,337 (from NCBI)

This gene has 4 transcripts (splice variants), 239 orthologues and 22 paralogues. Biased expression in fat (RPKM 51.6), lung (RPKM 14.0) and 6 other tissues.

Summary

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]

CLDN5 Products (4)

mRNA	Protein	Name
NM_001130861.1	NP_001124333.1	claudin-5 isoform 1
NM_001363066.2	NP_001349995.1	claudin-5 isoform 2
NM_001363067.2	NP_001349996.1	claudin-5 isoform 1
NM_003277.4	NP_003268.2	claudin-5 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25323998	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cell-cell junction assembly	IMP IMP: Inferred from mutant phenotype	23288152	GOA
involved in establishment of blood-retinal barrier	IMP IMP: Inferred from mutant phenotype	25323998	GOA
involved in maintenance of blood-brain barrier	IMP IMP: Inferred from mutant phenotype	28961379	GOA
involved in negative regulation of angiogenesis	IMP IMP: Inferred from mutant phenotype	25323998	GOA
involved in negative regulation of cell migration	IMP IMP: Inferred from mutant phenotype	25323998	GOA
involved in negative regulation of gene expression	IMP IMP: Inferred from mutant phenotype	25323998	GOA
involved in negative regulation of vascular permeability	IMP IMP: Inferred from mutant phenotype	28961379	GOA
involved in positive regulation of bicellular tight junction assembly	IMP IMP: Inferred from mutant phenotype	25323998	GOA
involved in positive regulation of cell population proliferation	IMP IMP: Inferred from mutant phenotype	28961379	GOA
involved in positive regulation of establishment of endothelial barrier	IMP IMP: Inferred from mutant phenotype	23288152	GOA
involved in positive regulation of gene expression	IMP IMP: Inferred from mutant phenotype	25323998	GOA
involved in positive regulation of protein binding	IMP IMP: Inferred from mutant phenotype	25323998	GOA
involved in transforming growth factor beta receptor signaling pathway	IDA IDA: Inferred from direct assay	21168935	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in apicolateral plasma membrane	IDA IDA: Inferred from direct assay	9892664	GOA
located in bicellular tight junction	IDA IDA: Inferred from direct assay	9892664	GOA
located in cell-cell junction	IDA IDA: Inferred from direct assay	18065521	GOA
located in cell-cell junction	IMP IMP: Inferred from mutant phenotype	25753039	GOA
colocalizes with cortical actin cytoskeleton	IDA IDA: Inferred from direct assay	25816133	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	23137377	GOA
located in tight junction	IDA IDA: Inferred from direct assay	30734065	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CLDN5 Protein Structure

PMP22_Claudin

0
100
200
303 a.a.

Protein Preferred Names	Protein Names
claudin-5	transmembrane protein deleted in VCFS

CLDN5 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	CLDN5	O00501	VAMP5	Homo sapiens	O95183	Validated Y2H	32296183
Intra	CLDN5	O00501	SFTPC	Homo sapiens	P11686	Validated Y2H	32296183
Intra	CLDN5	O00501	TMEM182	Homo sapiens	Q6ZP80	Validated Y2H	32296183
Intra	CLDN5	O00501	CYB561A3	Homo sapiens	Q8NBI2	Validated Y2H	32296183
Intra	CLDN5	O00501	TMEM190	Homo sapiens	Q8WZ59	Validated Y2H	32296183
Intra	CLDN5	O00501	SLC35B4	Homo sapiens	Q969S0	Validated Y2H	32296183
Intra	CLDN5	O00501	RPRM	Homo sapiens	Q9NS64	Validated Y2H	32296183
Intra	CLDN5	O00501	TMEM128	Homo sapiens	Q5BJH2-2	Validated Y2H	32296183
Intra	CLDN5	O00501	ERMP1	Homo sapiens	Q7Z2K6	Validated Y2H	32296183
Intra	CLDN5	O00501	PLPPR2	Homo sapiens	Q96GM1	Validated Y2H	32296183
Intra	CLDN5	O00501	BTNL8	Homo sapiens	Q6UX41-6	Validated Y2H	32296183
Intra	CLDN5	O00501	EFNA5	Homo sapiens	P52803	Validated Y2H	32296183
Intra	CLDN5	O00501	CORIN	Homo sapiens	Q9Y5Q5	Validated Y2H	32296183
Intra	CLDN5	O00501	TMEM14C	Homo sapiens	Q9P0S9	Validated Y2H	32296183
Intra	CLDN5	O00501	EHHADH	Homo sapiens	Q08426	Validated Y2H	32296183
Intra	CLDN5	O00501	LHFPL5	Homo sapiens	Q8TAF8	Validated Y2H	32296183
Intra	CLDN5	O00501	CNPY3	Homo sapiens	Q9BT09	Validated Y2H	32296183
Intra	CLDN5	O00501	TMEM140	Homo sapiens	Q9NV12	Validated Y2H	32296183
Intra	CLDN5	O00501	PMP22	Homo sapiens	Q01453	Validated Y2H	32296183
Intra	CLDN5	O00501	TECR	Homo sapiens	Q9NZ01	Validated Y2H	32296183
Intra	CLDN5	O00501	TMEM222	Homo sapiens	Q9H0R3	Validated Y2H	32296183
Intra	CLDN5	O00501	CXCL9	Homo sapiens	Q07325	Validated Y2H	32296183
Intra	CLDN5	O00501	TSPAN2	Homo sapiens	O60636	Validated Y2H	32296183
Intra	CLDN5	O00501	SGCG	Homo sapiens	Q13326	Validated Y2H	32296183
Intra	CLDN5	O00501	PLP2	Homo sapiens	Q04941	Validated Y2H	32296183
Intra	CLDN5	O00501	GYPA	Homo sapiens	P02724	Validated Y2H	32296183
Intra	CLDN5	O00501	ERG28	Homo sapiens	Q9UKR5	Validated Y2H	32296183
Intra	CLDN5	O00501	TF	Homo sapiens	P02787	Validated Y2H	32296183
Intra	CLDN5	O00501	SMIM3	Homo sapiens	Q9BZL3	Validated Y2H	32296183
Intra	CLDN5	O00501	AQP1	Homo sapiens	P29972	Validated Y2H	32296183
Intra	CLDN5	O00501	YIPF1	Homo sapiens	Q9Y548	Validated Y2H	32296183
Intra	CLDN5	O00501	CTRL	Homo sapiens	P40313	Validated Y2H	32296183
Intra	CLDN5	O00501	LAT	Homo sapiens	O43561-2	Validated Y2H	32296183
Intra	CLDN5	O00501	MIP	Homo sapiens	P30301	Validated Y2H	32296183
Intra	CLDN5	O00501	CCDC167	Homo sapiens	Q9P0B6	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

CLDN5 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81419	Claudin 5 Antibody (YA1164)	IHC-P, mIHC	Human
HY-P81419A	Claudin 5 Antibody (YA1164)(PBS only)	IHC-P, mIHC	Human

Related Diseases

Diseases	Alias
Velocardiofacial Syndrome	Shprintzen Syndrome VCFS Chromosome 22q11.2 Deletion Syndrome Vcf Syndrome Shprintzen Vcf Syndrome Vcf-Velocardiofacial Syndrome Velo-Cardio-Facial Syndrome Digeorge Syndrome 22q11 Deletion Syndrome Conotruncal Anomaly Face Syndrome
Brain Edema	Cerebral Edema Intracranial Swelling Wet Brain
Meningoencephalitis	Acquired Toxoplasmal Meningoencephalitis Meningoencephalitis Due To Acquired Toxoplasmosis Meningoencephalitis Due To Toxoplasmosis Toxoplasma Meningoencephalitis
Gray Platelet Syndrome	Platelet Alpha-Granule Deficiency GPS Bdplt4 Bleeding Disorder, Platelet-Type, 4 Grey Platelet Syndrome Platelet-Type Bleeding Disorder 4 Marked Decrease Or Absence Of Alpha-Granules And Of Platelet-Specific Alpha-Granule Proteins Deficient Alpha Granule Syndrome Platelet Alpha Granule Deficiency Platelet Granule Defect Alpha Storage Pool Deficiency Bleeding Disorder Platelet-Type 4
Angiostrongyliasis	A. Cantonensis Angiostrongyliasis
Cerebral Artery Occlusion
Schizophrenia	SCZD Schizophrenia With Or Without An Affective Disorder Schizophrenia 12 Schizophrenia, Susceptibility To Schizophrenia-1 Dementia Praecox Schizophrenia 1
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-W014507	9,10-Phenanthrenequinone	Inhibitor	99.95%	Unkown
HY-RS02773	CLDN5 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22444	Cldn5 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28967	Cldn5 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	CLDN5	VGNC	VGNC:27417
Mus musculus	CLDN5	MGD	MGI:1276112
Felis catus	CLDN5	VGNC	VGNC:60938
Rattus norvegicus	CLDN5	RGD	RGD:68431
Others	CLDN5	NCBI