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Gene : CLDN19 Homo sapiens

Name  ? claudin 19 Cytological Location  1p34.2
Brief Description  claudin 19
Description  The product of this gene belongs to the claudin family. It plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity. Defects in this gene are the cause of hypomagnesemia renal with ocular involvement (HOMGO). HOMGO is a progressive renal disease characterized by primary renal magnesium wasting with hypomagnesemia, hypercalciuria and nephrocalcinosis associated with severe ocular abnormalities such as bilateral chorioretinal scars, macular colobomata, significant myopia and nystagmus. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jun 2010]
  • synonyms:
  • CLDN19,
  • OTTHUMG00000007524,
  • HGNC:2040,
  • AK096063,
  • uc001chu.3,
  • HOMG5,
  • NM_148960
  • identifiers:
  • 149461,
  • ENSG00000164007,
  • CLDN19

Genome feature

Region: gene ? Length: 7144  
Location: 1:42733093-42740236 reverse strand Cyto location: 1p34.2


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

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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Interactions

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Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

228 SN Ps

5 Cross References

16 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results