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Gene : AAAS Homo sapiens

Name  ? aladin WD repeat nucleoporin Cytological Location  12q13.13
Brief Description  aladin WD repeat nucleoporin
description  The protein encoded by this gene is a member of the WD-repeat family of regulatory proteins and may be involved in normal development of the peripheral and central nervous system. The encoded protein is part of the nuclear pore complex and is anchored there by NDC1. Defects in this gene are a cause of achalasia-addisonianism-alacrima syndrome (AAAS), also called triple-A syndrome or Allgrove syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
  • synonyms:
  • ADRACALA,
  • AJ289841,
  • HGNC:13666,
  • GL003,
  • NM_001173466,
  • Allgrove, triple-A,
  • AAAS,
  • adracalin,
  • ADRACALIN,
  • achalasia, adrenocortical insufficiency, alacrimia,
  • ALADIN,
  • AAASb,
  • uc001scr.5,
  • OTTHUMG00000169729,
  • aladin,
  • AAA,
  • achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)
  • identifiers:
  • 8086,
  • ENSG00000094914,
  • AAAS

Genome feature

Region: gene ? Length: 14173  
Location: 12:53307456-53321628 reverse strand Cyto location: 12q13.13


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Function

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69 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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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

69 Pathways

2011 SN Ps

5 Cross References

19 Data Sets

5 Homologues

0 Located Features

90 Rna Seq Results