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

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	9075
Gene name Gene Name - the full gene name approved by the HGNC.	Claudin 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CLDN2
Synonyms (NCBI Gene) Gene synonyms aliases	OAZON, claudin-2
Chromosome Chromosome number	X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	Xq22.3
Summary Summary of gene provided in NCBI Entrez Gene.	This gene product belongs to the claudin protein family whose members have been identified as major integral membrane proteins localized exclusively at tight junctions. Claudins are expressed in an organ-specific manner and regulate tissue-specific physio

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1555979575	G>C	Pathogenic	Missense variant, coding sequence variant

Show/Hide all(117)

miRTarBase ID	miRNA	Experiments
MIRT895288	hsa-miR-1292	CLIP-seq
MIRT895289	hsa-miR-1343	CLIP-seq
MIRT895290	hsa-miR-182	CLIP-seq
MIRT895291	hsa-miR-1827	CLIP-seq
MIRT895292	hsa-miR-2682	CLIP-seq
MIRT895293	hsa-miR-3189-3p	CLIP-seq
MIRT895294	hsa-miR-362-5p	CLIP-seq
MIRT895295	hsa-miR-4272	CLIP-seq
MIRT895296	hsa-miR-4303	CLIP-seq
MIRT895297	hsa-miR-4326	CLIP-seq
MIRT895298	hsa-miR-4471	CLIP-seq
MIRT895299	hsa-miR-449c	CLIP-seq
MIRT895300	hsa-miR-4646-5p	CLIP-seq
MIRT895301	hsa-miR-4649-3p	CLIP-seq
MIRT895302	hsa-miR-500b	CLIP-seq
MIRT895303	hsa-miR-515-5p	CLIP-seq
MIRT895304	hsa-miR-532-3p	CLIP-seq
MIRT895305	hsa-miR-122	CLIP-seq
MIRT895306	hsa-miR-1321	CLIP-seq
MIRT895307	hsa-miR-3124-3p	CLIP-seq
MIRT895308	hsa-miR-3692	CLIP-seq
MIRT895309	hsa-miR-4419a	CLIP-seq
MIRT895310	hsa-miR-4510	CLIP-seq
MIRT895311	hsa-miR-4534	CLIP-seq
MIRT895312	hsa-miR-4728-5p	CLIP-seq
MIRT895313	hsa-miR-4739	CLIP-seq
MIRT895314	hsa-miR-4756-5p	CLIP-seq
MIRT895315	hsa-miR-4778-3p	CLIP-seq
MIRT895316	hsa-miR-1206	CLIP-seq
MIRT895317	hsa-miR-1207-5p	CLIP-seq
MIRT895318	hsa-miR-1275	CLIP-seq
MIRT895319	hsa-miR-15a	CLIP-seq
MIRT895320	hsa-miR-15b	CLIP-seq
MIRT895321	hsa-miR-16	CLIP-seq
MIRT895322	hsa-miR-1909	CLIP-seq
MIRT895323	hsa-miR-195	CLIP-seq
MIRT895324	hsa-miR-3915	CLIP-seq
MIRT895325	hsa-miR-3928	CLIP-seq
MIRT895326	hsa-miR-424	CLIP-seq
MIRT895327	hsa-miR-4277	CLIP-seq
MIRT895328	hsa-miR-4436b-3p	CLIP-seq
MIRT895329	hsa-miR-4474-5p	CLIP-seq
MIRT895330	hsa-miR-4525	CLIP-seq
MIRT895331	hsa-miR-4665-5p	CLIP-seq
MIRT895332	hsa-miR-4667-5p	CLIP-seq
MIRT895333	hsa-miR-4685-5p	CLIP-seq
MIRT895334	hsa-miR-4700-5p	CLIP-seq
MIRT895335	hsa-miR-4710	CLIP-seq
MIRT895336	hsa-miR-4719	CLIP-seq
MIRT895337	hsa-miR-4723-5p	CLIP-seq
MIRT895338	hsa-miR-4761-3p	CLIP-seq
MIRT895339	hsa-miR-4761-5p	CLIP-seq
MIRT895340	hsa-miR-4763-3p	CLIP-seq
MIRT895341	hsa-miR-4797-5p	CLIP-seq
MIRT895342	hsa-miR-497	CLIP-seq
MIRT895343	hsa-miR-625	CLIP-seq
MIRT895344	hsa-miR-637	CLIP-seq
MIRT895345	hsa-miR-939	CLIP-seq
MIRT895288	hsa-miR-1292	CLIP-seq
MIRT895289	hsa-miR-1343	CLIP-seq
MIRT1965479	hsa-miR-3622b-5p	CLIP-seq
MIRT895298	hsa-miR-4471	CLIP-seq
MIRT895300	hsa-miR-4646-5p	CLIP-seq
MIRT1965480	hsa-miR-4654	CLIP-seq
MIRT1965481	hsa-miR-4697-3p	CLIP-seq
MIRT1965482	hsa-miR-4704-3p	CLIP-seq
MIRT1965483	hsa-miR-4720-5p	CLIP-seq
MIRT1965484	hsa-miR-4769-5p	CLIP-seq
MIRT1965485	hsa-miR-4799-3p	CLIP-seq
MIRT895303	hsa-miR-515-5p	CLIP-seq
MIRT895304	hsa-miR-532-3p	CLIP-seq
MIRT1965486	hsa-miR-570	CLIP-seq
MIRT895316	hsa-miR-1206	CLIP-seq
MIRT2201423	hsa-miR-1245	CLIP-seq
MIRT2201424	hsa-miR-3156-3p	CLIP-seq
MIRT2201425	hsa-miR-383	CLIP-seq
MIRT2201426	hsa-miR-3919	CLIP-seq
MIRT895327	hsa-miR-4277	CLIP-seq
MIRT2201427	hsa-miR-4301	CLIP-seq
MIRT895333	hsa-miR-4685-5p	CLIP-seq
MIRT2201428	hsa-miR-4756-3p	CLIP-seq
MIRT2201429	hsa-miR-4765	CLIP-seq
MIRT2201430	hsa-miR-4772-5p	CLIP-seq
MIRT2201431	hsa-miR-483-3p	CLIP-seq
MIRT2201432	hsa-miR-508-5p	CLIP-seq
MIRT895304	hsa-miR-532-3p	CLIP-seq
MIRT2201423	hsa-miR-1245	CLIP-seq
MIRT2386147	hsa-miR-1289	CLIP-seq
MIRT895288	hsa-miR-1292	CLIP-seq
MIRT895289	hsa-miR-1343	CLIP-seq
MIRT2386148	hsa-miR-1915	CLIP-seq
MIRT2386149	hsa-miR-3198	CLIP-seq
MIRT2201425	hsa-miR-383	CLIP-seq
MIRT2201426	hsa-miR-3919	CLIP-seq
MIRT2386150	hsa-miR-4294	CLIP-seq
MIRT2386151	hsa-miR-4309	CLIP-seq
MIRT895298	hsa-miR-4471	CLIP-seq
MIRT895311	hsa-miR-4534	CLIP-seq
MIRT895300	hsa-miR-4646-5p	CLIP-seq
MIRT2386152	hsa-miR-4726-3p	CLIP-seq
MIRT2201428	hsa-miR-4756-3p	CLIP-seq
MIRT2201429	hsa-miR-4765	CLIP-seq
MIRT2201430	hsa-miR-4772-5p	CLIP-seq
MIRT895303	hsa-miR-515-5p	CLIP-seq
MIRT895304	hsa-miR-532-3p	CLIP-seq
MIRT2201423	hsa-miR-1245	CLIP-seq
MIRT2436265	hsa-miR-1252	CLIP-seq
MIRT2201425	hsa-miR-383	CLIP-seq
MIRT2201426	hsa-miR-3919	CLIP-seq
MIRT2201428	hsa-miR-4756-3p	CLIP-seq
MIRT2201429	hsa-miR-4765	CLIP-seq
MIRT2201430	hsa-miR-4772-5p	CLIP-seq
MIRT2447148	hsa-miR-27a	CLIP-seq
MIRT2447149	hsa-miR-27b	CLIP-seq
MIRT2447150	hsa-miR-4691-3p	CLIP-seq
MIRT2447151	hsa-miR-5096	CLIP-seq
MIRT2447152	hsa-miR-513a-5p	CLIP-seq

Transcription factors

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Transcription factor	Regulation	Reference
CTNNB1	Activation	14751232
LEF1	Activation	14751232
PPARG	Unknown	16688762

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GO ID	Ontology	Definition	Evidence	Reference
GO:0002227	Process	Innate immune response in mucosa	IEA
GO:0002227	Process	Innate immune response in mucosa	ISS
GO:0005198	Function	Structural molecule activity	IEA
GO:0005515	Function	Protein binding	IPI	25323998, 25416956, 32296183, 34964704, 36008380, 37460613
GO:0005654	Component	Nucleoplasm	IDA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005911	Component	Cell-cell junction	IDA	21415414
GO:0005923	Component	Bicellular tight junction	IBA
GO:0005923	Component	Bicellular tight junction	IEA
GO:0005923	Component	Bicellular tight junction	ISS
GO:0016020	Component	Membrane	IEA
GO:0016338	Process	Calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules	IBA
GO:0016338	Process	Calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules	IEA
GO:0016338	Process	Calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules	ISS
GO:0030054	Component	Cell junction	IDA
GO:0042802	Function	Identical protein binding	IDA	36008380
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	ISS
GO:0070160	Component	Tight junction	IDA	20460438
GO:0070160	Component	Tight junction	IEA
GO:0070161	Component	Anchoring junction	IEA
GO:0070830	Process	Bicellular tight junction assembly	IBA
GO:0098609	Process	Cell-cell adhesion	IEA
GO:0098609	Process	Cell-cell adhesion	ISS
GO:0120188	Process	Regulation of bile acid secretion	IEA
GO:0120188	Process	Regulation of bile acid secretion	ISS
GO:0160184	Process	Paracellular transport	IDA	20460438, 36008380
GO:0160184	Process	Paracellular transport	IEA
GO:0160187	Function	Paracellular tight junction channel activity	IDA	20460438, 36008380
GO:0160187	Function	Paracellular tight junction channel activity	IEA
GO:1903985	Process	Regulation of intestinal D-glucose absorption	IEA
GO:1903985	Process	Regulation of intestinal D-glucose absorption	ISS
GO:1904729	Process	Regulation of intestinal lipid absorption	IEA
GO:1904729	Process	Regulation of intestinal lipid absorption	ISS

MIM	HGNC	e!Ensembl
300520	2041	ENSG00000165376

Protein

UniProt ID

P57739

Protein name

Claudin-2 (SP82)

Protein function

Forms paracellular channels: polymerizes in tight junction strands with cation- and water-selective channels through the strands, conveying epithelial permeability in a process known as paracellular tight junction permeability (PubMed:20460438,

PDB

4YYX

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00822	PMP22_Claudin	4 → 181	PMP-22/EMP/MP20/Claudin family	Family

Sequence

MASLGLQLVGYILGLLGLLGTLVAMLLPSWKTSSYVGASIVTAVGFSKGLWMECATHSTG
ITQCDIYSTLLGLPADIQAAQAMMVTSSAISSLACIISVVGMRCTVFCQESRAKDRVAVA
GGVFFILGGLLGFIPVAWNLHGILRDFYSPLVPDSMKFEIGEALYLGIISSLFSLIAGII
LCFSCSSQRNRSNYYDAYQAQPLATRSSPRPGQPPKVKSEFNSYSLTGYV

Sequence length

230

Interactions

View interactions

	KEGG
	Virion - Hepatitis viruses Cell adhesion molecules Tight junction Leukocyte transendothelial migration Pathogenic Escherichia coli infection Hepatitis C

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
male infertility	Male infertility	rs1555979575	N/A

Show/Hide Unknown Diseases (2)

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.
Azoospermia	azoospermia, obstructive, with nephrolithiasis	N/A	N/A	GenCC
Hereditary Pancreatitis	hereditary chronic pancreatitis	N/A	N/A	GenCC

Show/Hide Text Mining Associations (64)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma	Associate	24907662, 27687058, 28057758, 28212604
Adenocarcinoma of Lung	Associate	22546605, 24907662, 26061016, 26163137, 28057758, 28608828, 29247669, 31923533, 32340376, 33419064, 34205320, 35886884, 36555089, 36961882
Adenoma	Stimulate	18711353
Allergic Fungal Sinusitis	Associate	22927233
Autism Spectrum Disorder	Associate	27957319
Barrett Esophagus	Associate	28212604, 34795059
Biliary Tract Neoplasms	Associate	18854598
Breast Neoplasms	Associate	24287398, 30692208
Breast Neoplasms	Inhibit	33714203
Carcinogenesis	Associate	36961882
Carcinoma Hepatocellular	Associate	23651211, 24278187
Carcinoma Non Small Cell Lung	Associate	18942115, 31438892
Carcinoma Squamous Cell	Associate	24294371, 28212604
Celiac Disease	Stimulate	31605016
Colitis Ulcerative	Associate	31918598
Colitis Ulcerative	Stimulate	32164249
Colorectal Neoplasms	Associate	17970035, 29134439
Colorectal Neoplasms	Stimulate	34965023
Common Variable Immunodeficiency	Associate	31605016
Crohn Disease	Associate	16822808, 39201543
Diarrhea	Associate	28082316, 31605016
Drug Related Side Effects and Adverse Reactions	Associate	29247669
Drug Related Side Effects and Adverse Reactions	Inhibit	35886884
Ectodermal Dysplasia	Associate	37621953
Epidermodysplasia Verruciformis	Associate	32518268
Esophageal Neoplasms	Associate	28212604
Gastroesophageal Reflux	Associate	22994974
Graft vs Host Disease	Associate	31605016
HIV Infections	Associate	20700059
Ichthyosis Bullosa of Siemens	Associate	28082316
Idiopathic Pulmonary Fibrosis	Associate	18955738, 32001212
Inflammation	Associate	16007110, 32731411
Inflammation	Stimulate	31918598
Inflammatory Bowel Diseases	Stimulate	18711353, 35653895
Inflammatory Bowel Diseases	Associate	23946598, 31605016
Inflammatory Bowel Diseases	Inhibit	36364889
Intestinal Diseases	Associate	28804910
Irritable Bowel Syndrome	Associate	27869798
Liver Failure	Associate	24287398, 30692208
Lung Neoplasms	Associate	26163137, 37488117
Lymphoma Non Hodgkin	Associate	28212604
Malabsorption Syndromes	Associate	31605016
Mesothelioma	Associate	16505274
Metaplasia	Associate	28212604
Neoplasm Metastasis	Associate	24287398, 30692208, 34965023, 37488117
Neoplasms	Associate	15800679, 18711353, 18942115, 23385421, 23651211, 24287398, 24294371, 26163137, 28212604, 28608828, 30692208, 31959204, 36555089, 36961882, 37621953
Neoplasms	Stimulate	17970035
Neoplasms Glandular and Epithelial	Associate	28212604
Neuroendocrine Tumors	Associate	40217502
Neuromuscular Junction Diseases	Associate	35968893
Pancreatitis	Associate	23143602
Pancreatitis Chronic	Associate	26820620, 28754779
Precancerous Conditions	Associate	28212604
Progressive hearing loss stapes fixation	Associate	23143602
Prostatic Neoplasms	Associate	26087186
Renal Insufficiency Chronic	Associate	37833387
Sarcoidosis	Associate	18955738
Severe Acute Respiratory Syndrome	Associate	25892881
Skin Neoplasms	Associate	24294371
Squamous Cell Carcinoma of Head and Neck	Associate	23856835, 36232536
Stomach Diseases	Associate	32630408
Stomach Neoplasms	Associate	23919729, 31959204
Urticaria Solar	Associate	24294371
Warts	Associate	32518268

CLDN2 (claudin 2)