CLDN5 claudin 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CLDN5provided by HGNC
Official Full Name: claudin 5provided by HGNC
Primary source: HGNC:HGNC:2047
See related: Ensembl:ENSG00000184113 MIM:602101; AllianceGenome:HGNC:2047
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: mouse all
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Genomic context

Location:: 22q11.21

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (19523024..19525337, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (19899865..19902178, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (19510547..19512860, complement)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Association of Plasma Claudin-5 with Age and Alzheimer Disease.
Title: Association of Plasma Claudin-5 with Age and Alzheimer Disease.
Serum claudin-5, claudin-11, occludin, vinculin, paxillin, and beta-catenin levels in preschool children with autism spectrum disorder.
Title: Serum claudin-5, claudin-11, occludin, vinculin, paxillin, and beta-catenin levels in preschool children with autism spectrum disorder.
Downregulation of Claudin5 promotes malignant progression and radioresistance through Beclin1-mediated autophagy in esophageal squamous cell carcinoma.
Title: Downregulation of Claudin5 promotes malignant progression and radioresistance through Beclin1-mediated autophagy in esophageal squamous cell carcinoma.
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.
Title: Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.
Correlates of Zonulin and Claudin-5, markers of intestinal and brain endothelial permeability, in Parkinson's Disease: A pilot study.
Title: Correlates of Zonulin and Claudin-5, markers of intestinal and brain endothelial permeability, in Parkinson's Disease: A pilot study.
The CLDN5 gene at the blood-brain barrier in health and disease.
Title: The CLDN5 gene at the blood-brain barrier in health and disease.
Inflammation and Blood-Brain Barrier in Depression: Interaction of CLDN5 and IL6 Gene Variants in Stress-Induced Depression.
Title: Inflammation and Blood-Brain Barrier in Depression: Interaction of CLDN5 and IL6 Gene Variants in Stress-Induced Depression.
Serum claudin-5 levels among patients with unipolar and bipolar depression in relation to the pro-inflammatory cytokine tumor necrosis factor-alpha levels.
Title: Serum claudin-5 levels among patients with unipolar and bipolar depression in relation to the pro-inflammatory cytokine tumor necrosis factor-alpha levels.
Unique structural features of claudin-5 and claudin-15 lead to functionally distinct tight junction strand architecture.
Title: Unique structural features of claudin-5 and claudin-15 lead to functionally distinct tight junction strand architecture.
Recurrent de novo mutations in CLDN5 induce an anion-selective blood-brain barrier and alternating hemiplegia.
Title: Recurrent de novo mutations in CLDN5 induce an anion-selective blood-brain barrier and alternating hemiplegia.

Submit: New GeneRIF Correction See all GeneRIFs (98)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

A006E34 (e-PCR)
- UniSTS:60692

CLDN5_64 (e-PCR)
- UniSTS:277105

D22S1668 (e-PCR)
- UniSTS:474045

D22S983E (e-PCR)
- UniSTS:35519

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural molecule activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in bicellular tight junction assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell-cell junction assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in establishment of blood-retinal barrier	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in face morphogenesis	TAS Traceable Author Statement more info	PubMed
involved_in learning	TAS Traceable Author Statement more info	PubMed
involved_in maintenance of blood-brain barrier	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in maintenance of blood-brain barrier	NAS Non-traceable Author Statement more info	PubMed
involved_in myelination	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of angiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of vascular permeability	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in outflow tract morphogenesis	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of bicellular tight junction assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of establishment of endothelial barrier	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of protein binding	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to ethanol	IEA Inferred from Electronic Annotation more info
involved_in roof of mouth development	TAS Traceable Author Statement more info	PubMed
involved_in tight junction assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in transforming growth factor beta receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in Schmidt-Lanterman incisure	IEA Inferred from Electronic Annotation more info
located_in apicolateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in bicellular tight junction	IBA Inferred from Biological aspect of Ancestor more info
located_in bicellular tight junction	IDA Inferred from Direct Assay more info	PubMed
located_in bicellular tight junction	ISS Inferred from Sequence or Structural Similarity more info
located_in cell junction	TAS Traceable Author Statement more info
located_in cell-cell junction	IDA Inferred from Direct Assay more info	PubMed
located_in cell-cell junction	IMP Inferred from Mutant Phenotype more info	PubMed
colocalizes_with cortical actin cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
located_in lateral plasma membrane	IEA Inferred from Electronic Annotation more info
located_in membrane	NAS Non-traceable Author Statement more info	PubMed
located_in membrane	TAS Traceable Author Statement more info	PubMed
located_in paranode region of axon	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in tight junction	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: claudin-5

Names: transmembrane protein deleted in VCFS; transmembrane protein deleted in velocardiofacial syndrome

NCBI Reference Sequences (RefSeq)

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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)

NM_001130861.1 → NP_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/TrEMBL

D3DX19

Related

ENSP00000384554.1, ENST00000403084.1

Conserved Domains (1) summary

cl21598
Location:90 → 266

PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
NM_001363066.2 → NP_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

Consensus CDS

CCDS93118.1

UniProtKB/Swiss-Prot

B3KS11, O00501, Q53XW2, Q8WUW3

UniProtKB/TrEMBL

Q53HW4

Related

ENSP00000480623.1, ENST00000618236.2

Conserved Domains (1) summary

cl21598
Location:5 → 181

PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
NM_001363067.2 → NP_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

UniProtKB/TrEMBL

D3DX19

Conserved Domains (1) summary

cl21598
Location:90 → 266

PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
NM_001426402.1 → NP_001413331.1 claudin-5 isoform 2

Status: REVIEWED

Source sequence(s)

CP068256

UniProtKB/Swiss-Prot

B3KS11, O00501, Q53XW2, Q8WUW3
NM_003277.4 → NP_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/TrEMBL

D3DX19

Related

ENSP00000400612.2, ENST00000413119.2

Conserved Domains (1) summary

cl21598
Location:90 → 266

PMP22_Claudin; PMP-22/EMP/MP20/Claudin family