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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:
  • AAASb,
  • NM_001173466,
  • AAAS,
  • GL003,
  • achalasia, adrenocortical insufficiency, alacrimia,
  • adracalin,
  • aladin,
  • AJ289841,
  • Allgrove, triple-A,
  • AAA,
  • OTTHUMG00000169729,
  • HGNC:13666,
  • uc001scr.5,
  • achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)
  • identifiers:
  • 8086,
  • ENSG00000094914,
  • AAAS

Genome feature

Region: gene ? Length: 14155  
Location: 12:53307456-53321610 reverse strand Cyto location: 12q13.13

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69 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.


Gene --> Proteins.


Gene Report --> GWAS hit


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]


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Gene --> Physical and Genetic Interactions


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

Gene Ontology

Gene --> GO terms.



69 Pathways

3740 SNPs

5 Cross References

18 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results