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Gene

PHKB

phosphorylase kinase regulatory subunit beta

Summary

Cytogenetic location
16q12.1
Coordinates
Chromosome 16: 47,461,331–47,701,523 (GRCh38)
Exons
31 exons across 240.2 kb
Protein
1,093 amino acids
MANE Select transcript
ENST00000323584.10NM_000293.3
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.

      • ClinGen rates the link definitive
      • 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 PHKB is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 16, with a bracket where PHKB sits. PHKB and 3 genes near it on chromosome 16, from 47,081,427 to 48,081,426.Chromosome 1616q12.1p13.3p13.2p13.13p13.12p13.11p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q13q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.347.2 Mb47.4 Mb47.6 Mb47.8 Mb48 MbNETO2: 47,077,703–47,144,028, reverse strandNETO2ITFG1: 47,154,387–47,464,149, reverse strandITFG1PHKB: 47,461,331–47,701,523, forward strandPHKBABCC12: 48,080,882–48,156,018, reverse strandABCC12Diagram of PHKB: 31 exons on the forward strand of chromosome 16Exon 2: 4 known disease-causing sitesExon 4: 4 known disease-causing sitesExon 5: 2 known disease-causing sitesExon 6: 5 known disease-causing sitesExon 8: 1 known disease-causing siteExon 9: 4 known disease-causing sitesExon 10: 5 known disease-causing sitesExon 11: 3 known disease-causing sitesExon 12: 3 known disease-causing sitesExon 13: 7 known disease-causing sitesExon 14: 1 known disease-causing siteExon 16: 2 known disease-causing sitesExon 17: 3 known disease-causing sitesExon 18: 1 known disease-causing siteExon 19: 1 known disease-causing siteExon 20: 3 known disease-causing sitesExon 21: 2 known disease-causing sitesExon 22: 2 known disease-causing sitesExon 23: 1 known disease-causing siteExon 24: 4 known disease-causing sitesExon 25: 2 known disease-causing sitesExon 26: 4 known disease-causing sitesExon 27: 3 known disease-causing sitesExon 28: 6 known disease-causing sitesExon 29: 1 known disease-causing siteExon 30: 1 known disease-causing siteExon 1: 47,461,331–47,461,426, 96 basesExon 2: 47,497,399–47,497,488, 90 basesExon 3: 47,499,756–47,499,894, 139 basesExon 4: 47,502,991–47,503,090, 100 basesExon 5: 47,511,665–47,511,772, 108 basesExon 6: 47,515,521–47,515,601, 81 basesExon 7: 47,547,433–47,547,548, 116 basesExon 8: 47,580,295–47,580,358, 64 basesExon 9: 47,587,668–47,587,763, 96 basesExon 10: 47,588,905–47,589,102, 198 basesExon 11: 47,593,500–47,593,557, 58 basesExon 12: 47,594,137–47,594,214, 78 basesExon 13: 47,596,373–47,596,531, 159 basesExon 14: 47,610,826–47,610,920, 95 basesExon 15: 47,641,035–47,641,090, 56 basesExon 16: 47,641,599–47,641,692, 94 basesExon 17: 47,648,533–47,648,616, 84 basesExon 18: 47,649,100–47,649,204, 105 basesExon 19: 47,650,544–47,650,626, 83 basesExon 20: 47,650,831–47,650,921, 91 basesExon 21: 47,660,506–47,660,567, 62 basesExon 22: 47,660,657–47,660,819, 163 basesExon 23: 47,661,719–47,661,800, 82 basesExon 24: 47,663,677–47,663,734, 58 basesExon 25: 47,664,885–47,664,975, 91 basesExon 26: 47,669,215–47,669,417, 203 basesExon 27: 47,689,041–47,689,175, 135 basesExon 28: 47,693,378–47,693,507, 130 basesExon 29: 47,696,381–47,696,488, 108 basesExon 30: 47,698,448–47,698,588, 141 basesExon 31: 47,699,229–47,701,523, 2,295 bases120315′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 5.5 kb of the gene's 240.2 kb; 3,282 of those bases code for the protein.

How a genome test reads PHKB

120

positions in PHKB 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 240.2 kb of PHKB, introns included, not only the 5.5 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.). PHKB gene: phosphorylase kinase regulatory subunit beta. Retrieved 16 October 2026, from https://dantelabs.com/genes/phkb

Vancouver

Dante Labs. PHKB gene: phosphorylase kinase regulatory subunit beta [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/phkb

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