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Gene : OCLN Homo sapiens

Name  ? occludin Cytological Location  5q13.2
Brief Description  occludin
description  This gene encodes an integral membrane protein that is required for cytokine-induced regulation of the tight junction paracellular permeability barrier. Mutations in this gene are thought to be a cause of band-like calcification with simplified gyration and polymicrogyria (BLC-PMG), an autosomal recessive neurologic disorder that is also known as pseudo-TORCH syndrome. Alternative splicing results in multiple transcript variants. A related pseudogene is present 1.5 Mb downstream on the q arm of chromosome 5. [provided by RefSeq, Apr 2011]
  • synonyms:
  • phosphatase 1, regulatory subunit 115,
  • BLCPMG,
  • PPP1R115,
  • HGNC:8104,
  • NM_002538,
  • tight junction protein occludin TM4 minus,
  • OCLN,
  • PTORCH1,
  • uc003jwu.3,
  • U49184,
  • PPP1R115,
  • OTTHUMG00000099356
  • identifiers:
  • 100506658,
  • ENSG00000197822,
  • OCLN

Genome feature

Region: gene ? Length: 65813  
Location: 5:69492292-69558104 Cyto location: 5q13.2


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

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Genomics

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Proteins

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SNPs

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Disease

1 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

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Other

2011 SN Ps

5 Cross References

18 Data Sets

11 Homologues

0 Located Features

90 Rna Seq Results