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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9071
Gene name	Claudin 10
Gene symbol	CLDN10
Synonyms (NCBI Gene)	CPETRL3HELIXOSP-LOSPL
Chromosome	13
Chromosome location	13q32.1
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

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs759408749	C>A,G	Pathogenic	Coding sequence variant, genic upstream transcript variant, intron variant, missense variant, upstream transcript variant
rs930701747	T>C,G	Pathogenic	Upstream transcript variant, intron variant, missense variant, initiator codon variant, genic upstream transcript variant
rs1555299783	C>T	Pathogenic	Coding sequence variant, missense variant

Show/Hide all (97)

miRTarBase ID	miRNA	Experiments	Reference
MIRT722037	hsa-miR-3925-5p	HITS-CLIP	19536157
MIRT722036	hsa-miR-3919	HITS-CLIP	19536157
MIRT722035	hsa-miR-4756-3p	HITS-CLIP	19536157
MIRT722034	hsa-miR-6729-3p	HITS-CLIP	19536157
MIRT722033	hsa-miR-6801-3p	HITS-CLIP	19536157
MIRT722032	hsa-miR-6810-3p	HITS-CLIP	19536157
MIRT722031	hsa-miR-331-3p	HITS-CLIP	19536157
MIRT722037	hsa-miR-3925-5p	HITS-CLIP	19536157
MIRT722036	hsa-miR-3919	HITS-CLIP	19536157
MIRT722035	hsa-miR-4756-3p	HITS-CLIP	19536157
MIRT722034	hsa-miR-6729-3p	HITS-CLIP	19536157
MIRT722033	hsa-miR-6801-3p	HITS-CLIP	19536157
MIRT722032	hsa-miR-6810-3p	HITS-CLIP	19536157
MIRT722031	hsa-miR-331-3p	HITS-CLIP	19536157
MIRT894904	hsa-miR-3187-3p	CLIP-seq
MIRT894905	hsa-miR-3201	CLIP-seq
MIRT894906	hsa-miR-3677-5p	CLIP-seq
MIRT894907	hsa-miR-3691-5p	CLIP-seq
MIRT894908	hsa-miR-3945	CLIP-seq
MIRT894909	hsa-miR-4253	CLIP-seq
MIRT894910	hsa-miR-4468	CLIP-seq
MIRT894911	hsa-miR-4481	CLIP-seq
MIRT894912	hsa-miR-4491	CLIP-seq
MIRT894913	hsa-miR-4529-5p	CLIP-seq
MIRT894914	hsa-miR-4657	CLIP-seq
MIRT894915	hsa-miR-4738-3p	CLIP-seq
MIRT894916	hsa-miR-4745-5p	CLIP-seq
MIRT894917	hsa-miR-4752	CLIP-seq
MIRT894918	hsa-miR-4758-5p	CLIP-seq
MIRT894919	hsa-miR-4791	CLIP-seq
MIRT894920	hsa-miR-550b	CLIP-seq
MIRT894921	hsa-miR-888	CLIP-seq
MIRT894922	hsa-miR-1202	CLIP-seq
MIRT894923	hsa-miR-1299	CLIP-seq
MIRT894924	hsa-miR-1827	CLIP-seq
MIRT894925	hsa-miR-30a	CLIP-seq
MIRT894926	hsa-miR-30b	CLIP-seq
MIRT894927	hsa-miR-30c	CLIP-seq
MIRT894928	hsa-miR-30d	CLIP-seq
MIRT894929	hsa-miR-30e	CLIP-seq
MIRT894904	hsa-miR-3187-3p	CLIP-seq
MIRT894930	hsa-miR-3194-5p	CLIP-seq
MIRT894905	hsa-miR-3201	CLIP-seq
MIRT894931	hsa-miR-335	CLIP-seq
MIRT894906	hsa-miR-3677-5p	CLIP-seq
MIRT894907	hsa-miR-3691-5p	CLIP-seq
MIRT894908	hsa-miR-3945	CLIP-seq
MIRT894932	hsa-miR-3972	CLIP-seq
MIRT894909	hsa-miR-4253	CLIP-seq
MIRT894933	hsa-miR-4254	CLIP-seq
MIRT894934	hsa-miR-4292	CLIP-seq
MIRT894935	hsa-miR-4308	CLIP-seq
MIRT894911	hsa-miR-4481	CLIP-seq
MIRT894912	hsa-miR-4491	CLIP-seq
MIRT894913	hsa-miR-4529-5p	CLIP-seq
MIRT894914	hsa-miR-4657	CLIP-seq
MIRT894916	hsa-miR-4745-5p	CLIP-seq
MIRT894917	hsa-miR-4752	CLIP-seq
MIRT894918	hsa-miR-4758-5p	CLIP-seq
MIRT894936	hsa-miR-4782-5p	CLIP-seq
MIRT894919	hsa-miR-4791	CLIP-seq
MIRT894937	hsa-miR-516b	CLIP-seq
MIRT894938	hsa-miR-605	CLIP-seq
MIRT894939	hsa-miR-7	CLIP-seq
MIRT894940	hsa-miR-875-3p	CLIP-seq
MIRT894941	hsa-miR-891b	CLIP-seq
MIRT1965393	hsa-miR-3119	CLIP-seq
MIRT1965394	hsa-miR-3607-3p	CLIP-seq
MIRT1965395	hsa-miR-3650	CLIP-seq
MIRT1965396	hsa-miR-4474-3p	CLIP-seq
MIRT1965397	hsa-miR-644	CLIP-seq
MIRT2201352	hsa-miR-188-3p	CLIP-seq
MIRT2201353	hsa-miR-323b-3p	CLIP-seq
MIRT2201354	hsa-miR-3591-5p	CLIP-seq
MIRT2201355	hsa-miR-4255	CLIP-seq
MIRT2201356	hsa-miR-4264	CLIP-seq
MIRT2201357	hsa-miR-4268	CLIP-seq
MIRT2201358	hsa-miR-4704-3p	CLIP-seq
MIRT894918	hsa-miR-4758-5p	CLIP-seq
MIRT2201359	hsa-miR-4764-3p	CLIP-seq
MIRT2201360	hsa-miR-511	CLIP-seq
MIRT2201361	hsa-miR-532-3p	CLIP-seq
MIRT894941	hsa-miR-891b	CLIP-seq
MIRT894904	hsa-miR-3187-3p	CLIP-seq
MIRT894905	hsa-miR-3201	CLIP-seq
MIRT894906	hsa-miR-3677-5p	CLIP-seq
MIRT894907	hsa-miR-3691-5p	CLIP-seq
MIRT894908	hsa-miR-3945	CLIP-seq
MIRT894909	hsa-miR-4253	CLIP-seq
MIRT894911	hsa-miR-4481	CLIP-seq
MIRT894912	hsa-miR-4491	CLIP-seq
MIRT894913	hsa-miR-4529-5p	CLIP-seq
MIRT894914	hsa-miR-4657	CLIP-seq
MIRT894916	hsa-miR-4745-5p	CLIP-seq
MIRT894917	hsa-miR-4752	CLIP-seq
MIRT894918	hsa-miR-4758-5p	CLIP-seq
MIRT894919	hsa-miR-4791	CLIP-seq

Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005198	Function	Structural molecule activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	28771254
GO:0005886	Component	Plasma membrane	IEA
GO:0005923	Component	Bicellular tight junction	IBA
GO:0005923	Component	Bicellular tight junction	IEA
GO:0005923	Component	Bicellular tight junction	ISS
GO:0005923	Component	Bicellular tight junction	TAS	10508613
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0007155	Process	Cell adhesion	IBA
GO:0007155	Process	Cell adhesion	TAS	10508613
GO:0016020	Component	Membrane	IEA
GO:0016338	Process	Calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules	ISS
GO:0042802	Function	Identical protein binding	IDA	28028216
GO:0042802	Function	Identical protein binding	ISS
GO:0043269	Process	Regulation of monoatomic ion transport	IMP	28686597
GO:0070160	Component	Tight junction	IDA	19383724, 35650657
GO:0070161	Component	Anchoring junction	IEA
GO:0070830	Process	Bicellular tight junction assembly	IBA
GO:0160184	Process	Paracellular transport	IDA	19383724, 35650657, 36008380
GO:0160187	Function	Paracellular tight junction channel activity	IDA	19383724, 35650657, 36008380

MIM	HGNC	e!Ensembl
617579	2033	ENSG00000134873

P78369

Protein name

Claudin-10 (Oligodendrocyte-specific protein-like) (OSP-like)

Protein function

Forms paracellular channels: polymerizes in tight junction strands with cation- and anion-selective channels through the strands, conveying epithelial permeability in a process known as paracellular tight junction permeability. {ECO:0000269|PubM

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00822	PMP22_Claudin	4 → 179	PMP-22/EMP/MP20/Claudin family	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in the kidney, eccrine sweat glands and in all layers of the epidermis. In the kidney, it is detected in the thick ascending limb of Henle's loop (TAL) (PubMed:28686597, PubMed:28771254). In the sweat glands, it is expressed

Sequence

MASTASEIIAFMVSISGWVLVSSTLPTDYWKVSTIDGTVITTATYWANLWKACVTDSTGV
SNCKDFPSMLALDGYIQACRGLMIAAVSLGFFGSIFALFGMKCTKVGGSDKAKAKIACLA
GIVFILSGLCSMTGCSLYANKITTEFFDPLFVEQKYELGAALFIGWAGASLCIIGGVIFC
FSISDNNKTPRYTYNGATSVMSSRTKYHGGEDFKTTNPSKQFDKNAYV

Sequence length

228

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)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
HELIX syndrome	Pathogenic; Likely pathogenic	rs2501666796, rs2501666805, rs759408749, rs1555299783, rs930701747, rs2043960821	RCV003319566 RCV004555308 RCV000505520 RCV000505524 RCV000505532 RCV001251100

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
CLDN10-related disorder	Benign	rs34449921, rs79906565	RCV003927293 RCV003937089
Hypokalemia	Uncertain significance	rs374187735	RCV000856682
Hypomagnesemia	Uncertain significance	rs374187735	RCV000856682
Lower limb muscle weakness	Uncertain significance	rs374187735	RCV000856682

Show/Hide Text Mining Associations (49)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acid Base Imbalance	Associate	33675844
Adenocarcinoma	Associate	23591077
Adenocarcinoma in Situ	Associate	23591077
Adenocarcinoma of Lung	Associate	22076167, 23591077, 32149133
Alacrima	Associate	30482581
Aplasia of Lacrimal and Salivary Glands	Associate	33675844
Autism Spectrum Disorder	Associate	27957319
Bartter Syndrome	Associate	28674042
Bartter Syndrome Type 3 with Hypocalciuria	Associate	30482581
Bile Duct Neoplasms	Associate	18854598
Biliary Tract Neoplasms	Associate	18854598
Breast Neoplasms	Associate	30544377
Breast Neoplasms	Inhibit	33714203
Carcinogenesis	Associate	30696738
Carcinoma in Situ	Associate	23591077
Carcinoma Non Small Cell Lung	Associate	35178045
Carcinoma Renal Cell	Associate	31746384
Carcinoma Renal Cell	Inhibit	35414767
Choroidal Effusions	Associate	37067588
Colitis Ulcerative	Associate	27037036
Colorectal Neoplasms	Associate	31442207
Coxa Magna	Associate	33542623
Diabetes Mellitus Type 2	Associate	32747424
Gitelman Syndrome	Associate	28674042
Hypercalcemia	Associate	28674042
Hypohidrosis	Associate	33675844
Hypokalemia	Associate	30482581
Hypokalemia Familial	Associate	28674042
Ichthyosis	Associate	33675844
Kidney Diseases	Associate	36890159
Kidney Neoplasms	Associate	30482581
Lung Neoplasms	Associate	22076167
Lymphatic Metastasis	Stimulate	32045884
Lymphoma Non Hodgkin	Associate	37067588
Mitochondrial Diseases	Associate	35414767
Neoplasm Metastasis	Inhibit	35414767
Neoplasms	Associate	17060315, 18717013, 22076167, 22193974, 33157921, 35178045
Neoplasms	Inhibit	18854598
Periodontitis	Associate	39610070
Sarcoma Synovial	Associate	17060315
Squamous Cell Carcinoma of Head and Neck	Associate	31115553
Stomach Neoplasms	Associate	24325792
Syndrome	Associate	33675844
Taste Disorders	Associate	28674042
Thyroid Cancer Papillary	Associate	32045884, 33157921, 39205691
Tight skin contracture syndrome lethal	Associate	28674042
Uterine Cervicitis	Associate	30696738
Water Electrolyte Imbalance	Associate	30482581
Xerostomia	Associate	33675844

CLDN10 (claudin 10)