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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
CLDN5-related neurodevelopmental disorder Likely pathogenic; Pathogenic rs2517704639, rs2517704673, rs2517704684 RCV003314290
RCV003397178
RCV003992867
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Syndromic disease Pathogenic rs2517704673 RCV006249871
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (6)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
MAJOR DEPRESSIVE DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MESOTHELIOMA, MALIGNANT — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Neurodevelopmental abnormality Uncertain significance ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (120)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
22q11 Deletion Syndrome 22q11 deletion syndrome BEFREE 28993710
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 21857898
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 17585317
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 17585317
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 28961379
★★★★★
★☆☆☆☆
Found in Text Mining only
Alternating hemiplegia of childhood Alternating hemiplegia of childhood Pubtator 35714222 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 26573292, 29848382, 30541599, 33838873, 37438770 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 29022894
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 18344992
★★★★★
★☆☆☆☆
Found in Text Mining only
AURAL ATRESIA, CONGENITAL Aural Atresia, Congenital BEFREE 30007166
★★★★★
★☆☆☆☆
Found in Text Mining only