Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	7122
Gene name Gene Name - the full gene name approved by the HGNC.	Claudin 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CLDN5
Synonyms (NCBI Gene) Gene synonyms aliases	AWAL, BEC1, CPETRL1, TMDVCF, TMVCF
Chromosome Chromosome number	22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	22q11.21
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(12)

miRTarBase ID	miRNA	Experiments	Reference
MIRT021935	hsa-miR-128-3p	Microarray	17612493
MIRT755417	hsa-miR-224-5p	Luciferase reporter assay, qRT-PCR, RNA-seq	38743384
MIRT895492	hsa-miR-2355-5p	CLIP-seq
MIRT895493	hsa-miR-4283	CLIP-seq
MIRT895494	hsa-miR-4508	CLIP-seq
MIRT895495	hsa-miR-4706	CLIP-seq
MIRT895496	hsa-miR-4749-5p	CLIP-seq
MIRT895497	hsa-miR-744	CLIP-seq
MIRT2201485	hsa-miR-1207-5p	CLIP-seq
MIRT2201486	hsa-miR-4722-5p	CLIP-seq
MIRT2201487	hsa-miR-4736	CLIP-seq
MIRT2201488	hsa-miR-4763-3p	CLIP-seq

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
GO:0005886	Component	Plasma membrane	IEA
GO:0005911	Component	Cell-cell junction	IDA	18065521, 21168935, 23288152, 23626836
GO:0005911	Component	Cell-cell junction	IEA
GO:0005911	Component	Cell-cell junction	IMP	25753039
GO:0005923	Component	Bicellular tight junction	IBA
GO:0005923	Component	Bicellular tight junction	IDA	9892664, 25816133
GO:0005923	Component	Bicellular tight junction	IEA
GO:0005923	Component	Bicellular tight junction	ISS
GO:0007043	Process	Cell-cell junction assembly	IMP	23288152
GO:0007155	Process	Cell adhesion	IBA
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IDA	21168935
GO:0007612	Process	Learning	TAS	9192844
GO:0008284	Process	Positive regulation of cell population proliferation	IMP	28961379
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	IMP	25323998
GO:0010628	Process	Positive regulation of gene expression	ISS
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0010629	Process	Negative regulation of gene expression	IMP	25323998
GO:0010629	Process	Negative regulation of gene expression	ISS
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	9892664
GO:0016020	Component	Membrane	TAS	9192844
GO:0016327	Component	Apicolateral plasma membrane	IDA	9892664
GO:0016328	Component	Lateral plasma membrane	IEA
GO:0016338	Process	Calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules	ISS
GO:0016525	Process	Negative regulation of angiogenesis	IMP	25323998
GO:0030054	Component	Cell junction	TAS
GO:0030336	Process	Negative regulation of cell migration	IMP	25323998, 28961379
GO:0030864	Component	Cortical actin cytoskeleton	IDA	25816133
GO:0033270	Component	Paranode region of axon	IEA
GO:0035633	Process	Maintenance of blood-brain barrier	IMP	28961379
GO:0035633	Process	Maintenance of blood-brain barrier	NAS	30280653
GO:0042552	Process	Myelination	IEA
GO:0042802	Function	Identical protein binding	ISS
GO:0043116	Process	Negative regulation of vascular permeability	IMP	28961379
GO:0043220	Component	Schmidt-Lanterman incisure	IEA
GO:0045471	Process	Response to ethanol	IEA
GO:0060021	Process	Roof of mouth development	TAS	9192844
GO:0060325	Process	Face morphogenesis	TAS	9192844
GO:0070160	Component	Tight junction	IDA	30734065
GO:0070160	Component	Tight junction	IEA
GO:0070161	Component	Anchoring junction	IEA
GO:0070830	Process	Bicellular tight junction assembly	IBA
GO:0120192	Process	Tight junction assembly	IEA
GO:0120192	Process	Tight junction assembly	ISS
GO:1903142	Process	Positive regulation of establishment of endothelial barrier	IMP	23288152
GO:1903348	Process	Positive regulation of bicellular tight junction assembly	IMP	25323998
GO:1990963	Process	Establishment of blood-retinal barrier	IMP	25323998

MIM	HGNC	e!Ensembl
602101	2047	ENSG00000184113

Protein

UniProt ID

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

MGSAALEILGLVLCLVGWGGLILACGLPMWQVTAFLDHNIVTAQTTWKGLWMSCVVQSTG
HMQCKVYDSVLALSTEVQAARALTVSAVLLAFVALFVTLAGAQCTTCVAPGPAKARVALT
GGVLYLFCGLLALVPLCWFANIVVREFYDPSVPVSQKYELGAALYIGWAATALLMVGGCL
LCCGAWVCTGRPDLSFPVKYSAPRRPTATGDYDKKNYV

Sequence length

218

Interactions

View interactions

	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

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Neurodevelopmental Disorders	neurodevelopmental disorder	N/A	N/A	GenCC

Show/Hide Text Mining Associations (86)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
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
Carcinoma Hepatocellular	Associate	17981296
Carcinoma Non Small Cell Lung	Associate	30874545
Carcinoma Pancreatic Ductal	Associate	18820670, 24519061
Carcinoma Squamous Cell	Associate	17585317, 24294371, 27884700, 32518268
Cardiomyopathy Dilated	Associate	23695888
Central Nervous System Vascular Malformations	Associate	32488381
Channelopathies	Associate	35714222
Cognition Disorders	Associate	33838873
Colorectal Neoplasms	Associate	32170581, 34573430
COVID 19	Associate	33578631
COVID 19	Inhibit	36129989
Crohn Disease	Associate	16822808
Dementia	Associate	18003888
Depressive Disorder	Associate	38111702, 39760673
Depressive Disorder Major	Inhibit	33139732
DiGeorge Syndrome	Associate	9326327
Encephalitis	Inhibit	16478881
Endometrial Neoplasms	Associate	18850381
Ependymoma	Associate	27395057
Epidermodysplasia Verruciformis	Associate	32518268
Erectile Dysfunction	Associate	38111702
Familial ependymoma	Associate	27395057
Fetal Growth Retardation	Associate	36293204
Frontotemporal Dementia	Associate	29848382
Glioblastoma	Associate	25345514, 39196480
Glioma	Associate	25345514
Glomus Tumor	Associate	21959309
Heart Diseases	Associate	17981296, 25440958
Heart Failure	Inhibit	25440958
Heat Stroke	Associate	28490769
Hemangioendothelioma	Associate	21959309
Hemangioma Cavernous Central Nervous System	Inhibit	21572340
Hemangiopericytoma	Associate	21959309
Hemangiosarcoma	Associate	21959309
Huntington Disease	Associate	29848382
Hypoxia	Inhibit	33326735, 36902491
Idiopathic Pulmonary Fibrosis	Associate	18955738, 22700861, 32001212
Liver Failure	Associate	17981296
Lung Neoplasms	Inhibit	28961379
Lymphatic Metastasis	Associate	26464708
Melanoma	Associate	21959309
Mental Disorders	Associate	33139732
Mesothelioma	Associate	16505274
Mesothelioma Malignant	Associate	16505274
Microcephaly	Associate	35714222
Microsatellite Instability	Associate	32170581
Multiple Sclerosis	Stimulate	21762372
Multiple Sclerosis	Associate	25774903
Multiple Sclerosis Chronic Progressive	Inhibit	24686948
Multiple Sclerosis Relapsing Remitting	Inhibit	24686948
Muscular dystrophy congenital with central nervous system involvement	Associate	38578402
Neoplasm Invasiveness	Associate	17981296
Neoplasm Metastasis	Associate	24519061, 29328410
Neoplasms	Associate	17585317, 17981296, 18628296, 20044634, 21959309, 22193974, 24519061, 26868378, 32170581, 34573430
Neoplasms	Inhibit	25345514
Neurodegenerative Diseases	Associate	35714222
Ovarian Neoplasms	Associate	20044634, 26868378
Pancreatic Intraductal Neoplasms	Associate	18820670
Pancreatic Neoplasms	Associate	24519061
Polyradiculoneuropathy Chronic Inflammatory Demyelinating	Associate	15090575
Polyradiculoneuropathy Chronic Inflammatory Demyelinating	Inhibit	25105500
Prostatic Neoplasms	Associate	23686669
Renal Insufficiency Chronic	Associate	35292710
Respiratory Tract Infections	Associate	28829370
Sarcoidosis	Associate	18955738
Sarcoma Kaposi	Associate	21959309
Sarcoma Synovial	Associate	21959309
Schizophrenia	Inhibit	33139732
Skin Neoplasms	Associate	24294371
Sleep Apnea Obstructive	Inhibit	32647186
Squamous Cell Carcinoma of Head and Neck	Associate	36232536
Stomach Diseases	Associate	32170581
Stomach Neoplasms	Associate	29901188
Urticaria Solar	Associate	24294371
Uterine Cervical Neoplasms	Associate	26464708
Warts	Associate	32518268

CLDN5 (claudin 5)