1. Gene
  2. CLDN5 - claudin 5 Gene

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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
25323998 GOA
Biological Process GO Annotation Evidence Reference 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 Reference 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

PMP22_Claudin: PMP-22/EMP/MP20/Claudin family (91 - 266)

  • 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 Reference
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

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

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