CLDN10 (claudin 10)

Gene

• Entrez ID: 9071
• Gene name: Claudin 10
• Gene symbol: CLDN10
• Synonyms (NCBI Gene): CPETRL3, HELIX, OSP-L, OSPL
• 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

SNPs

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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 617579
• HGNC: 2033
• e!Ensembl: ENSG00000134873

Protein

• UniProt ID: 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

Pathways

KEGG:

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

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
HELIX syndrome	Pathogenic; Likely pathogenic	rs2501666796, rs2501666805, rs759408749, rs1555299783, rs930701747, rs2043960821	RCV003319566 RCV004555308 RCV000505520 RCV000505524 RCV000505532 RCV001251100	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CLDN10-related disorder	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypokalemia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypomagnesemia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lower limb muscle weakness	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MESOTHELIOMA, MALIGNANT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROLITHIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UROLITHIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	9525934		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	23591077, 29145406		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	29794110		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	1763056		★☆☆☆☆ Found in Text Mining only
Alacrima	Alacrima	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aplasia of Lacrimal and Salivary Glands	Aplasia of lacrimal and salivary glands	Pubtator	33675844	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	27957319	Associate	★☆☆☆☆ Found in Text Mining only
Bartter Syndrome	Bartter syndrome	Pubtator	28674042	Associate	★☆☆☆☆ Found in Text Mining only
Bartter Syndrome Type 3 with Hypocalciuria	Bartter syndrome	Pubtator	30482581	Associate	★☆☆☆☆ Found in Text Mining only
Bile Duct Neoplasms	Bile duct neoplasms	Pubtator	18854598	Associate	★☆☆☆☆ Found in Text Mining only
Biliary Tract Neoplasms	Biliary tract neoplasms	Pubtator	18854598	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	30544377		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	30544377	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	33714203	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	30696738	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma in Situ	Carcinoma in situ	Pubtator	23591077	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	31746384	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35414767	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	21370593, 28350120		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	27037036	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	31442207	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Hydrocephalus	Congenital Hydrocephalus	BEFREE	9635428		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	17116693		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	32747424	Associate	★☆☆☆☆ Found in Text Mining only
Disseminated Intravascular Coagulation	Disseminated Intravascular Coagulation	BEFREE	30109814		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	30109814, 30938237		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	21370593		★☆☆☆☆ Found in Text Mining only
Gitelman Syndrome	Gitelman syndrome	Pubtator	28674042	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	17116693		★☆☆☆☆ Found in Text Mining only
HELIX SYNDROME	HELIX SYNDROME	GENOMICS_ENGLAND_DG	19307729		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HELIX SYNDROME	HELIX SYNDROME	UNIPROT_DG	28686597, 28771254		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HELIX SYNDROME	HELIX SYNDROME	BEFREE	28771254		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HELIX SYNDROME	HELIX SYNDROME	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary Malignant Neoplasm	Hereditary cancer	BEFREE	29980644		★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	Pubtator	28674042	Associate	★☆☆☆☆ Found in Text Mining only
Hypermagnesemia	Hypermagnesemia	BEFREE	29129401		★☆☆☆☆ Found in Text Mining only
Hypermagnesemia	Hypermagnesemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypohidrosis	Hypohidrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome	Hypohidrosis-Electrolyte Imbalance-Lacrimal Gland Dysfunction-Ichthyosis-Xerostomia Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Hypoxic-Ischemic Encephalopathy	Hypoxic-Ischemic Encephalopathy	BEFREE	30109814		★☆☆☆☆ Found in Text Mining only
Ichthyosis	Ichthyosis	Pubtator	33675844	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	36890159	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	30482581	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	15701840, 18025272, 30588256		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	15701840, 18025272		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	22076167	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	32045884	Stimulate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	30544377		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	21370593, 28350120		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18025272		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	29792313		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	35414767	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29980645		★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	BEFREE	29129401		★☆☆☆☆ Found in Text Mining only
Neuroectodermal Tumor, Primitive	Neuroectodermal Tumors	BEFREE	9270024		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	11551504, 31822763		★☆☆☆☆ Found in Text Mining only
Obstructive azoospermia	Obstructive azoospermia	BEFREE	20505168		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	30796717		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	21370593, 28350120		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	12947323, 30588256		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	39610070	Associate	★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	29794110		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	8167548		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sarcoma Synovial	Synovial sarcoma	Pubtator	17060315	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	31115553	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	24325792	Associate	★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	20852128		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	32045884, 33157921, 39205691	Associate	★☆☆☆☆ Found in Text Mining only
Tight skin contracture syndrome lethal	Tight skin contracture syndrome	Pubtator	28674042	Associate	★☆☆☆☆ Found in Text Mining only