Gene Gene information from NCBI Gene database.
Entrez ID 5010
Gene name Claudin 11
Gene symbol CLDN11
Synonyms (NCBI Gene)
HLD22OSPOTM
Chromosome 3
Chromosome location 3q26.2
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.
537
miRTarBase ID miRNA Experiments Reference
MIRT532808 hsa-miR-3646 PAR-CLIP 22012620
MIRT532807 hsa-miR-1252-3p PAR-CLIP 22012620
MIRT532806 hsa-miR-6882-5p PAR-CLIP 22012620
MIRT532805 hsa-miR-9500 PAR-CLIP 22012620
MIRT532804 hsa-miR-4635 PAR-CLIP 22012620
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
GO ID Ontology Definition Evidence Reference
GO:0005198 Function Structural molecule activity IEA
GO:0005515 Function Protein binding IPI 20375010, 32296183, 32814053
GO:0005811 Component Lipid droplet IDA
GO:0005883 Component Neurofilament IDA 30734065
GO:0005886 Component Plasma membrane IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601326 8514 ENSG00000013297
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O75508
Protein name Claudin-11 (Oligodendrocyte-specific protein)
Protein function Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00822 PMP22_Claudin 4 175 PMP-22/EMP/MP20/Claudin family Family
Sequence
Sequence length 207
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Virion - Hepatitis viruses
Cell adhesion molecules
Tight junction
Leukocyte transendothelial migration
Pathogenic Escherichia coli infection
Hepatitis C
 
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
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 Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Leukodystrophy, hypomyelinating, 22 Pathogenic rs2108249442 RCV001431513
RCV001431515
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Marfanoid habitus and intellectual disability Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MENTAL OR BEHAVIOURAL DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Actinic keratosis Actinic keratosis BEFREE 27992079
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma BEFREE 29321089
★☆☆☆☆
Found in Text Mining only
Azoospermia, Nonobstructive Azoospermia BEFREE 22951003
★☆☆☆☆
Found in Text Mining only
Blood Coagulation Disorders Blood Coagulation Disorders BEFREE 16194207
★☆☆☆☆
Found in Text Mining only
Bone Diseases Bone Disease BEFREE 29700355
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 33714203, 33971623 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 19956721 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 27234382, 27992079, 31551535 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 11245422
★☆☆☆☆
Found in Text Mining only
Childhood Medulloblastoma Medulloblastoma BEFREE 29321089
★☆☆☆☆
Found in Text Mining only