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CLDN5 claudin 5 [ Homo sapiens (human) ]

Gene ID: 7122, updated on 9-Jun-2020

Summary

Official Symbol
CLDN5provided by HGNC
Official Full Name
claudin 5provided by HGNC
Primary source
HGNC:HGNC:2047
See related
Ensembl:ENSG00000184113 MIM:602101
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AWAL; BEC1; TMVCF; TMDVCF; CPETRL1
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]
Expression
Biased expression in fat (RPKM 51.6), lung (RPKM 14.0) and 6 other tissues See more
Orthologs

Genomic context

See CLDN5 in Genome Data Viewer
Location:
22q11.21
Exon count:
2
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (19523024..19525337, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (19510547..19515068, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372860 Neighboring gene ubiquitin recognition factor in ER associated degradation 1 Neighboring gene cell division cycle 45 Neighboring gene long intergenic non-protein coding RNA 895 Neighboring gene CRISPRi-validated cis-regulatory element chr22.250

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env The exposure to HIV-1 or HIV-1 gp120 results in a significant downregulation of tight junction proteins ZO-1, Occludin, Claudin-1, Claudin-2, Claudin-3, Claudin-4, and Claudin-5 in human retinal pigment epithelial cells PubMed
env HIV-1 JRFL and HXB2 Env (gp120) downregulates CLDN5 (Claudin-5) in ARPE-19 cells and is dependent upon MMP activation PubMed
env Cannabinoid inhibits HIV-1 gp120-induced tight junction protein down-regulation of ZO-1, claudin-5, and JAM-1 in human brain micro vascular endothelial cells (HBMEC) PubMed
env The expression of tight junction proteins ZO-1, JAM-2, Occludin, Claudin-3 and Claudin-5 is modulated by HIV-1 gp120, and the modulated TJ expression involves Rho-A activation PubMed
Tat tat Exposure of brain micro vascular endothelial cells to HIV-1 Tat results in a decrease of claudin-1, claudin-5, and zonula occludens-2 expression and cellular redistribution of claudin-5, suggesting potential disturbance of the blood-brain barrier by Tat PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
identical protein binding ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
structural molecule activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
bicellular tight junction assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules ISS
Inferred from Sequence or Structural Similarity
more info
 
cell adhesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell-cell junction assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
establishment of blood-retinal barrier IMP
Inferred from Mutant Phenotype
more info
PubMed 
face morphogenesis TAS
Traceable Author Statement
more info
PubMed 
learning TAS
Traceable Author Statement
more info
PubMed 
maintenance of permeability of blood-brain barrier IMP
Inferred from Mutant Phenotype
more info
PubMed 
maintenance of permeability of blood-brain barrier NAS
Non-traceable Author Statement
more info
PubMed 
negative regulation of angiogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of gene expression ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of vascular permeability IMP
Inferred from Mutant Phenotype
more info
PubMed 
outflow tract morphogenesis TAS
Traceable Author Statement
more info
PubMed 
positive regulation of bicellular tight junction assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of establishment of endothelial barrier IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of gene expression ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of protein binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of bicellular tight junction assembly TAS
Traceable Author Statement
more info
 
roof of mouth development TAS
Traceable Author Statement
more info
PubMed 
tight junction assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
transforming growth factor beta receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
apicolateral plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
bicellular tight junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
bicellular tight junction IDA
Inferred from Direct Assay
more info
PubMed 
bicellular tight junction ISS
Inferred from Sequence or Structural Similarity
more info
 
cell junction TAS
Traceable Author Statement
more info
 
cell-cell junction IDA
Inferred from Direct Assay
more info
PubMed 
cell-cell junction IMP
Inferred from Mutant Phenotype
more info
PubMed 
colocalizes_with cortical actin cytoskeleton IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
integral component of membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
tight junction IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
claudin-5
Names
transmembrane protein deleted in VCFS
transmembrane protein deleted in velocardiofacial syndrome

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001130861.1NP_001124333.1  claudin-5 isoform 1

    See identical proteins and their annotated locations for NP_001124333.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes a protein of 303 aa (isoform 1). A common SNP (rs885985) encodes a stop codon in the 5' coding region and thus, for some haplotypes, translation is predicted to initiate from a downstream AUG to produce a protein of 218 aa (isoform 2).
    Source sequence(s)
    AK092561, AK124019, BU688528
    Consensus CDS
    CCDS13763.2
    UniProtKB/Swiss-Prot
    O00501
    UniProtKB/TrEMBL
    D3DX19
    Related
    ENSP00000384554.1, ENST00000403084.1
    Conserved Domains (1) summary
    cl21598
    Location:90266
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
  2. NM_001363066.2NP_001349995.1  claudin-5 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) represents the predominant transcript and initiates transcription from a downstream promoter, compared to variant 1. It encodes a protein of 218 aa (isoform 2) with a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AC000082, AK124019, BC032363
    Related
    ENSP00000480623.1, ENST00000618236.1
    Conserved Domains (1) summary
    cl21598
    Location:5181
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
  3. NM_001363067.2NP_001349996.1  claudin-5 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1, and encodes a protein (isoform 1) of 303 aa. A common SNP (rs885985) encodes a stop codon in the 5' coding region and thus, for some haplotypes, translation is predicted to initiate from a downstream AUG to produce a protein of 218 aa (isoform 2).
    Source sequence(s)
    AC000082
    Consensus CDS
    CCDS13763.2
    Conserved Domains (1) summary
    cl21598
    Location:90266
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
  4. NM_003277.4NP_003268.2  claudin-5 isoform 1

    See identical proteins and their annotated locations for NP_003268.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1, and encodes a protein (isoform 1) of 303 aa. A common SNP (rs885985) encodes a stop codon in the 5' coding region and thus, for some haplotypes, translation is predicted to initiate from a downstream AUG to produce a protein of 218 aa (isoform 2).
    Source sequence(s)
    AK092561, DB023636
    Consensus CDS
    CCDS13763.2
    UniProtKB/Swiss-Prot
    O00501
    UniProtKB/TrEMBL
    D3DX19
    Related
    ENSP00000400612.2, ENST00000413119.2
    Conserved Domains (1) summary
    cl21598
    Location:90266
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    19523024..19525337 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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