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Gene

AP1S2

adaptor related protein complex 1 subunit sigma 2

Summary

Cytogenetic location
Xp22.2
Coordinates
Chromosome X: 15,825,806–15,854,813 (GRCh38)
Exons
6 exons across 29 kb
Protein
160 amino acids
Also known as
SIGMA1B
Previous symbols
MRX59, MRXS5, PGS
MANE Select transcript
ENST00000672987.1NM_001272071.2
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

    How AP1S2 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome X, with a bracket where AP1S2 sits. AP1S2 and 10 genes near it on chromosome X, from 15,340,310 to 16,340,309.Chromosome XXp22.2p22.33p22.32p22.31p22.2p22.13p22.12p22.11p21.3p21.2p21.1p11.4p11.3p11.23p11.22p11.21p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q23q24q25q26.1q26.2q26.3q27.1q27.2q27.3q2815.4 Mb15.6 Mb15.8 Mb16 Mb16.2 MbVEGFD: 15,345,594–15,384,510, reverse strandVEGFDPIR: 15,384,799–15,493,635, reverse strandPIRBMX: 15,464,246–15,556,529, forward strandBMXACE2: 15,494,290–15,607,236, reverse strandACE2: 15,561,047–15,675,608, reverse strandCLTRN: 15,627,084–15,675,377, reverse strandCLTRNCA5B: 15,688,830–15,788,411, forward strandCA5BZRSR2: 15,790,106–15,830,694, forward strandZRSR2AP1S2: 15,825,806–15,854,813, reverse strandAP1S2GRPR: 16,123,545–16,159,474, forward strandGRPRMAGEB17: 16,167,481–16,171,464, forward strandMAGEB17Diagram of AP1S2: 6 exons on the reverse strand of chromosome XExon 4: 4 known disease-causing sitesExon 3: 1 known disease-causing siteExon 2: 3 known disease-causing sitesExon 6: 15,825,806–15,827,372, 1,567 basesExon 5: 15,828,192–15,828,200, 9 basesExon 4: 15,845,379–15,845,516, 138 basesExon 3: 15,845,903–15,846,011, 109 basesExon 2: 15,852,346–15,852,524, 179 basesExon 1: 15,854,688–15,854,813, 126 bases6543215′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 2.1 kb of the gene's 29 kb; 483 of those bases code for the protein.

    How a genome test reads AP1S2

    12

    positions in AP1S2 where ClinVar classes a change as pathogenic or likely pathogenic

    4 of them (33%) fall in regions short reads find hard.

    • Low mappability (4 sites)Regions where 100 bp or 250 bp reads cannot be placed uniquely.

    A whole genome covers all 29 kb of AP1S2, introns included, not only the 2.1 kb of exons.

    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.). AP1S2 gene: adaptor related protein complex 1 subunit sigma 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/ap1s2

    Vancouver

    Dante Labs. AP1S2 gene: adaptor related protein complex 1 subunit sigma 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/ap1s2

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