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Gene

AAAS

aladin WD repeat nucleoporin

Summary

Cytogenetic location
12q13.13
Coordinates
Chromosome 12: 53,307,460–53,321,610 (GRCh38)
Exons
16 exons across 14.2 kb
Protein
546 amino acids
Inheritance
Autosomal recessive
MANE Select transcript
ENST00000209873.9NM_015665.6
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Curated report relevant to this gene

  • Familial Glucocorticoid Deficiency

    • Triple-A syndromeAutosomal recessive

      Adrenal insufficiency from ACTH resistance together with absent tears and swallowing difficulty (achalasia), caused by AAAS variants.

      • 4 GenCC submitters rate it definitive or strong

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How AAAS is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 12, with a bracket where AAAS sits. AAAS and 30 genes near it on chromosome 12, from 52,814,535 to 53,814,534.Chromosome 1212q13.13p13.33p13.32p13.31p13.2p13.1p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11q12q13.11q13.12q13.13q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.31q24.32q24.3353 Mb53.2 Mb53.4 Mb53.6 Mb53.8 MbKRT79: 52,821,408–52,834,312, reverse strandKRT79KRT78: 52,837,804–52,849,092, reverse strandKRT78KRT8: 52,897,182–52,949,954, reverse strandKRT8KRT18: 52,945,688–52,952,911, forward strandKRT18EIF4B: 53,006,263–53,042,230, forward strandEIF4BTNS2: 53,046,969–53,064,621, forward strandTNS2SPRYD3: 53,064,316–53,079,414, reverse strandSPRYD3IGFBP6: 53,097,436–53,102,345, forward strandIGFBP6SOAT2: 53,103,457–53,124,538, forward strandSOAT2CSAD: 53,157,663–53,180,933, reverse strandCSADZNF740: 53,180,555–53,195,142, forward strandZNF740ITGB7: 53,191,318–53,207,310, reverse strandITGB7RARG: 53,210,566–53,232,980, reverse strandRARG: 53,241,900–53,242,722, forward strandSLC61A1: 53,251,251–53,254,406, forward strandSLC61A1ESPL1: 53,268,248–53,293,643, forward strandESPL1PFDN5: 53,295,291–53,299,455, forward strandPFDN5MYG1: 53,299,695–53,307,181, forward strandMYG1AAAS: 53,307,460–53,321,610, reverse strandAAASSP7: 53,326,575–53,345,315, reverse strandSP7SP1: 53,380,135–53,416,446, forward strandSP1AMHR2: 53,423,672–53,431,672, forward strandAMHR2PRR13: 53,441,308–53,446,660, forward strandPRR13PCBP2: 53,451,900–53,484,618, forward strandPCBP2MAP3K12: 53,479,669–53,500,063, reverse strandMAP3K12TARBP2: 53,500,921–53,506,431, forward strandTARBP2NPFF: 53,506,684–53,507,491, reverse strandNPFFATF7-NPFF: 53,506,691–53,625,979, reverse strandATF7-NPFFATF7: 53,507,856–53,626,412, reverse strandATP5MC2: 53,626,515–53,678,658, reverse strandATP5MC2CALCOCO1: 53,708,517–53,727,745, reverse strandCALCOCO1Diagram of AAAS: 16 exons on the reverse strand of chromosome 12Exon 16: 2 known disease-causing sitesExon 15: 3 known disease-causing sitesExon 14: 1 known disease-causing siteExon 13: 2 known disease-causing sitesExon 12: 1 known disease-causing siteExon 11: 4 known disease-causing sitesExon 10: 1 known disease-causing siteExon 9: 6 known disease-causing sitesExon 8: 4 known disease-causing sitesExon 7: 2 known disease-causing sitesExon 6: 5 known disease-causing sitesExon 4: 1 known disease-causing siteExon 3: 2 known disease-causing sitesExon 2: 2 known disease-causing sitesExon 1: 4 known disease-causing sitesExon 16: 53,307,460–53,307,713, 254 basesExon 15: 53,307,845–53,307,929, 85 basesExon 14: 53,308,052–53,308,133, 82 basesExon 13: 53,308,282–53,308,349, 68 basesExon 12: 53,308,435–53,308,528, 94 basesExon 11: 53,308,725–53,308,815, 91 basesExon 10: 53,308,960–53,309,020, 61 basesExon 9: 53,309,157–53,309,281, 125 basesExon 8: 53,309,601–53,309,721, 121 basesExon 7: 53,314,298–53,314,441, 144 basesExon 6: 53,314,751–53,314,849, 99 basesExon 5: 53,315,094–53,315,140, 47 basesExon 4: 53,315,335–53,315,426, 92 basesExon 3: 53,315,727–53,315,782, 56 basesExon 2: 53,320,565–53,320,692, 128 basesExon 1: 53,321,343–53,321,610, 268 bases16141210864215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 1.8 kb of the gene's 14.2 kb; 1,641 of those bases code for the protein.

How a genome test reads AAAS

48

positions in AAAS where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 14.2 kb of AAAS, introns included, not only the 1.8 kb of exons.

Genes linked to the same conditions

Traits linked to AAAS

The Human Phenotype Ontology lists these as features of the rare conditions AAAS can cause. Each trait's page lists the other genes linked to it.

External links

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). AAAS gene: aladin WD repeat nucleoporin. Retrieved 17 October 2026, from https://dantelabs.com/genes/aaas

Vancouver

Dante Labs. AAAS gene: aladin WD repeat nucleoporin [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/aaas

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