CLDN5 (claudin 5)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 7122
Gene name Claudin 5
Gene symbol CLDN5
Synonyms (NCBI Gene)
AWALBEC1CPETRL1TMDVCFTMVCF
Chromosome 22
Chromosome location 22q11.21
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 paracellula
miRNA miRNA information provided by mirtarbase database.
12
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (12)
miRTarBase ID miRNA Experiments Reference
MIRT021935 hsa-miR-128-3p Microarray 17612493
MIRT755417 hsa-miR-224-5p Luciferase reporter assayqRT-PCRRNA-seq 38743384
MIRT895492 hsa-miR-2355-5p CLIP-seq
MIRT895493 hsa-miR-4283 CLIP-seq
MIRT895494 hsa-miR-4508 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
53
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (53)
GO ID Ontology Definition Evidence Reference
GO:0003151 Process Outflow tract morphogenesis TAS 9192844
GO:0005198 Function Structural molecule activity IEA
GO:0005515 Function Protein binding IPI 25323998, 32296183
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IDA 23137377, 25978380
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
602101 2047 ENSG00000184113
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O00501
Protein name Claudin-5 (Transmembrane protein deleted in VCFS) (TMDVCF)
Protein function Plays a major role in tight junction-specific obliteration of the intercellular space.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00822 PMP22_Claudin 4 → 181 PMP-22/EMP/MP20/Claudin family Family
Sequence
Sequence length 218
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Virion - Hepatitis viruses
Cell adhesion molecules
Tight junction
Leukocyte transendothelial migration
Pathogenic Escherichia coli infection
Hepatitis C 		  RUNX1 regulates expression of components of tight junctions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
5
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CLDN5-related neurodevelopmental disorder Likely pathogenic; Pathogenic rs2517704639, rs2517704673, rs2517704684 RCV003314290
RCV003397178
RCV003992867
Syndromic disease Pathogenic rs2517704673 RCV006249871
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Neurodevelopmental abnormality Uncertain significance rs1934172728 RCV001264716
Show/Hide Text Mining Associations (86)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 17585317, 23686669
Adenocarcinoma of Lung Associate 28961379, 33062704
Alternating hemiplegia of childhood Associate 35714222
Alzheimer Disease Associate 26573292, 29848382, 30541599, 33838873, 37438770
Autism Spectrum Disorder Associate 27957319
Bell Palsy Associate 15090575
Bloom Syndrome Associate 36293204
Brain Edema Associate 28490769
Breast Neoplasms Associate 18628296, 33714203
Capillary Leak Syndrome Associate 27660013, 38578402