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Gene : CLDN11 Homo sapiens

Name  ? claudin 11 Cytological Location  3q26.2
Brief Description  claudin 11
description  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 paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. The protein encoded by this gene is a major component of central nervous system (CNS) myelin and plays an important role in regulating proliferation and migration of oligodendrocytes. Mouse studies showed that the gene deficiency results in deafness and loss of the Sertoli cell epithelial phenotype in the testis. This protein is a tight junction protein at the human blood-testis barrier (BTB), and the BTB disruption is related to a dysfunction of this gene. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Aug 2010]
  • synonyms:
  • OSP,
  • AF068863,
  • oligodendrocyte transmembrane protein,
  • OTM,
  • OSP,
  • OTTHUMG00000158940,
  • HGNC:8514,
  • OTM,
  • uc003fgx.4,
  • NM_005602,
  • CLDN11
  • identifiers:
  • 5010,
  • ENSG00000013297,
  • CLDN11

Genome feature

Region: gene ? Length: 15827  
Location: 3:170418865-170434691 Cyto location: 3q26.2


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

0 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

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Other

304 SN Ps

4 Cross References

15 Data Sets

26 Homologues

0 Located Features

90 Rna Seq Results