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Gene

AP2S1

adaptor related protein complex 2 subunit sigma 1

Summary

Cytogenetic location
19q13.32
Coordinates
Chromosome 19: 46,838,167–46,850,846 (GRCh38)
Exons
5 exons across 12.7 kb
Protein
142 amino acids
Inheritance
Autosomal dominant
Also known as
FBHOk, FBH3
Previous symbols
CLAPS2, HHC3
MANE Select transcript
ENST00000263270.11NM_004069.6
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

  • Inherited Parathyroid & Calcium-Sensing Disorders

    • Familial hypocalciuric hypercalcaemiaAutosomal dominant

      Lifelong, usually harmless mildly high blood calcium with low urine calcium, caused by reduced calcium sensing (CASR, GNA11, AP2S1).

      • 4 GenCC submitters rate it definitive or strong
      What knowing changes

      Recognising it avoids unnecessary parathyroid surgery, which does not cure it.

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How AP2S1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 19, with a bracket where AP2S1 sits. AP2S1 and 23 genes near it on chromosome 19, from 46,344,507 to 47,344,506.Chromosome 1919q13.32p13.3p13.2p13.13p13.12p13.11p12p11q11q12q13.11q13.12q13.13q13.2q13.31q13.32q13.33q13.41q13.42q13.4346.4 Mb46.6 Mb46.8 Mb47 Mb47.2 MbPPP5C: 46,346,994–46,393,000, forward strandPPP5CCCDC8: 46,410,329–46,413,564, reverse strandCCDC8PNMA8C: 46,424,697–46,428,936, reverse strandPNMA8CPNMA8A: 46,466,491–46,471,572, reverse strandPNMA8APNMA8B: 46,486,906–46,495,879, reverse strandPNMA8BCALM3: 46,601,074–46,610,795, forward strandCALM3PTGIR: 46,618,550–46,625,534, reverse strandPTGIRGNG8: 46,633,947–46,639,623, reverse strandGNG8DACT3: 46,646,872–46,661,199, reverse strandDACT3PRKD2: 46,673,661–46,717,144, reverse strandPRKD2STRN4: 46,719,507–46,746,994, reverse strandSTRN4FKRP: 46,746,046–46,776,988, forward strandFKRPSLC1A5: 46,758,394–46,788,617, reverse strandSLC1A5AP2S1: 46,838,167–46,850,846, reverse strandAP2S1ARHGAP35: 46,860,433–47,005,077, forward strandARHGAP35NPAS1: 47,019,474–47,047,242, forward strandNPAS1TMEM160: 47,045,909–47,048,650, reverse strandTMEM160ZC3H4: 47,064,187–47,113,776, reverse strandZC3H4SAE1: 47,113,274–47,210,636, forward strandSAE1BBC3: 47,220,822–47,233,019, reverse strandBBC3CCDC9: 47,255,980–47,274,055, forward strandCCDC9INAFM1: 47,274,373–47,277,755, forward strandINAFM1C5AR1: 47,290,023–47,322,075, forward strandC5AR1C5AR2: 47,332,148–47,347,329, forward strandC5AR2Diagram of AP2S1: 5 exons on the reverse strand of chromosome 19Exon 2: 2 known disease-causing sitesExon 5: 46,838,167–46,838,548, 382 basesExon 4: 46,838,740–46,838,799, 60 basesExon 3: 46,839,465–46,839,578, 114 basesExon 2: 46,845,993–46,846,142, 150 basesExon 1: 46,850,764–46,850,846, 83 bases543215′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 0.8 kb of the gene's 12.7 kb; 429 of those bases code for the protein.

How a genome test reads AP2S1

2

positions in AP2S1 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 12.7 kb of AP2S1, introns included, not only the 0.8 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.). AP2S1 gene: adaptor related protein complex 2 subunit sigma 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/ap2s1

Vancouver

Dante Labs. AP2S1 gene: adaptor related protein complex 2 subunit sigma 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/ap2s1

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