CLDN5 - claudin 5 Gene

Homo sapiens

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

Gene ID: 7122 | Gene type: protein coding

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

CLDN5 Protein Structure

PMP22_Claudin

0
100
200
303 a.a.

Protein Preferred Names

Protein Names

claudin-5

transmembrane protein deleted in VCFS

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02773	CLDN5 Human Pre-designed siRNA Set A		/	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

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