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Gene

PHKA2

phosphorylase kinase regulatory subunit alpha 2

Summary

Cytogenetic location
Xp22.13
Coordinates
Chromosome X: 18,892,298–18,984,114 (GRCh38)
Exons
33 exons across 91.8 kb
Protein
1,235 amino acids
Previous symbols
PHK, PYK
MANE Select transcript
ENST00000379942.5NM_000292.3
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

  • Glycogen Storage Disease

    • Glycogen Storage Disease Type IX

      Caused by variants in PHKA2, PHKB, PHKG2 or PHKA1, which can cause an enlarged liver, low blood sugar during fasting or, in the PHKA1 form, exercise-related muscle symptoms.

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

      Knowing allows avoidance of prolonged fasting, dietary management and liver monitoring, especially in the PHKG2 form.

How PHKA2 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 PHKA2 sits. PHKA2 and 6 genes near it on chromosome X, from 18,438,206 to 19,438,205.Chromosome XXp22.13p22.33p22.32p22.31p22.2p22.13p22.12p22.11p21.3p21.2p21.1p11.4p11.3p11.23p11.22p11.21p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q23q24q25q26.1q26.2q26.3q27.1q27.2q27.3q2818.6 Mb18.8 Mb19 Mb19.2 Mb19.4 MbCDKL5: 18,425,581–18,653,629, forward strandCDKL5RS1: 18,639,688–18,672,108, reverse strandRS1PPEF1: 18,675,909–18,828,342, forward strandPPEF1PHKA2: 18,892,298–18,984,114, reverse strandPHKA2ADGRG2: 18,989,307–19,122,962, reverse strandADGRG2PDHA1: 19,343,893–19,361,718, forward strandPDHA1MAP3K15: 19,360,056–19,515,513, reverse strandMAP3K15Diagram of PHKA2: 33 exons on the reverse strand of chromosome XExon 33: 4 known disease-causing sitesExon 32: 9 known disease-causing sitesExon 31: 2 known disease-causing sitesExon 30: 2 known disease-causing sitesExon 28: 1 known disease-causing siteExon 26: 1 known disease-causing siteExon 25: 5 known disease-causing sitesExon 24: 2 known disease-causing sitesExon 22: 5 known disease-causing sitesExon 21: 1 known disease-causing siteExon 20: 1 known disease-causing siteExon 19: 2 known disease-causing sitesExon 18: 1 known disease-causing siteExon 16: 1 known disease-causing siteExon 15: 4 known disease-causing sitesExon 14: 1 known disease-causing siteExon 12: 3 known disease-causing sitesExon 11: 2 known disease-causing sitesExon 9: 4 known disease-causing sitesExon 6: 5 known disease-causing sitesExon 5: 1 known disease-causing siteExon 4: 5 known disease-causing sitesExon 3: 1 known disease-causing siteExon 2: 6 known disease-causing sitesExon 1: 4 known disease-causing sitesExon 33: 18,892,298–18,893,655, 1,358 basesExon 32: 18,894,204–18,894,404, 201 basesExon 31: 18,895,138–18,895,191, 54 basesExon 30: 18,897,163–18,897,333, 171 basesExon 29: 18,899,173–18,899,226, 54 basesExon 28: 18,900,670–18,900,699, 30 basesExon 27: 18,901,485–18,901,603, 119 basesExon 26: 18,905,758–18,905,859, 102 basesExon 25: 18,906,495–18,906,624, 130 basesExon 24: 18,906,736–18,906,814, 79 basesExon 23: 18,907,018–18,907,097, 80 basesExon 22: 18,907,900–18,908,056, 157 basesExon 21: 18,908,801–18,908,934, 134 basesExon 20: 18,910,872–18,910,960, 89 basesExon 19: 18,918,681–18,918,854, 174 basesExon 18: 18,920,032–18,920,201, 170 basesExon 17: 18,924,056–18,924,134, 79 basesExon 16: 18,924,381–18,924,525, 145 basesExon 15: 18,925,668–18,925,777, 110 basesExon 14: 18,926,453–18,926,587, 135 basesExon 13: 18,929,228–18,929,306, 79 basesExon 12: 18,931,641–18,931,748, 108 basesExon 11: 18,936,055–18,936,150, 96 basesExon 10: 18,938,627–18,938,749, 123 basesExon 9: 18,939,995–18,940,048, 54 basesExon 8: 18,941,529–18,941,675, 147 basesExon 7: 18,943,710–18,943,808, 99 basesExon 6: 18,945,078–18,945,158, 81 basesExon 5: 18,948,744–18,948,826, 83 basesExon 4: 18,951,104–18,951,272, 169 basesExon 3: 18,952,494–18,952,541, 48 basesExon 2: 18,954,254–18,954,412, 159 basesExon 1: 18,983,855–18,984,114, 260 bases333025201510515′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 5.1 kb of the gene's 91.8 kb; 3,708 of those bases code for the protein.

How a genome test reads PHKA2

96

positions in PHKA2 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 91.8 kb of PHKA2, introns included, not only the 5.1 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.). PHKA2 gene: phosphorylase kinase regulatory subunit alpha 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/phka2

Vancouver

Dante Labs. PHKA2 gene: phosphorylase kinase regulatory subunit alpha 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/phka2

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