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Gene

PRKCSH

PRKCSH beta subunit of glucosidase II

Summary

Cytogenetic location
19p13.2
Coordinates
Chromosome 19: 11,435,635–11,450,968 (GRCh38)
Exons
18 exons across 15.3 kb
Protein
535 amino acids
Inheritance
Autosomal dominant
Also known as
VASAP-60, GIIB, PKCSH, 80K-H, AGE-R2, GIIbeta, GluIIbeta
Previous symbols
G19P1, PCLD, PLD1
MANE Select transcript
ENST00000677123.1NM_001289104.2
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

  • Polycystic Liver Disease (1 and 2)

    • Polycystic Liver Disease 1Autosomal dominant

      A polycystic liver disease in which the cause of the disease is a mutation in the PRKCSH gene, and is characterized by the appearance of numerous cysts spread throughout the liver.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong

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 PRKCSH 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 PRKCSH sits. PRKCSH and 31 genes near it on chromosome 19, from 10,943,302 to 11,943,301.Chromosome 1919p13.2p13.3p13.2p13.13p13.12p13.11p12p11q11q12q13.11q13.12q13.13q13.2q13.31q13.32q13.33q13.41q13.42q13.4311 Mb11.2 Mb11.4 Mb11.6 Mb11.8 MbSMARCA4: 10,960,824–11,079,426, forward strandSMARCA4LDLR: 11,089,418–11,133,830, forward strandLDLRSPC24: 11,131,419–11,155,815, reverse strandSPC24KANK2: 11,164,264–11,197,945, reverse strandKANK2DOCK6: 11,199,295–11,262,533, reverse strandDOCK6ANGPTL8: 11,237,502–11,245,478, forward strandANGPTL8TSPAN16: 11,296,139–11,326,996, forward strandRAB3D: 11,322,047–11,346,433, reverse strandTMEM205: 11,342,775–11,346,534, reverse strandTMEM205CCDC159: 11,344,684–11,354,948, forward strandPLPPR2: 11,355,386–11,365,698, forward strandPLPPR2SWSAP1: 11,374,658–11,379,194, forward strandSWSAP1EPOR: 11,377,207–11,384,343, reverse strandEPORRGL3: 11,384,341–11,419,372, reverse strandRGL3ODAD3: 11,420,604–11,435,782, reverse strandODAD3PRKCSH: 11,435,635–11,450,968, forward strandPRKCSHELAVL3: 11,451,326–11,481,051, reverse strandELAVL3: 11,466,240–11,505,698, reverse strandZNF653: 11,483,134–11,505,839, reverse strandZNF653ECSIT: 11,505,916–11,540,137, reverse strandECSITCNN1: 11,538,767–11,550,323, forward strandCNN1ELOF1: 11,551,147–11,559,325, reverse strandELOF1ZNF627: 11,559,374–11,622,582, forward strandZNF627ACP5: 11,574,653–11,579,993, reverse strandACP5ZNF823: 11,721,263–11,739,027, reverse strandZNF823ZNF441: 11,767,000–11,784,078, forward strandZNF441ZNF491: 11,797,642–11,809,622, forward strandZNF491ZNF440: 11,814,257–11,835,567, forward strandZNF440ZNF439: 11,848,716–11,883,750, forward strandZNF439ZNF69: 11,887,759–11,919,844, forward strandZNF69ZNF700: 11,925,064–11,950,774, forward strandZNF700: 11,925,075–11,979,290, forward strandDiagram of PRKCSH: 18 exons on the forward strand of chromosome 19Exon 4: 1 known disease-causing siteExon 5: 1 known disease-causing siteExon 6: 1 known disease-causing siteExon 7: 2 known disease-causing sitesExon 8: 1 known disease-causing siteExon 10: 1 known disease-causing siteExon 11: 2 known disease-causing sitesExon 13: 1 known disease-causing siteExon 15: 2 known disease-causing sitesExon 16: 1 known disease-causing siteExon 1: 11,435,635–11,435,706, 72 basesExon 2: 11,436,041–11,436,196, 156 basesExon 3: 11,436,389–11,436,505, 117 basesExon 4: 11,437,876–11,437,971, 96 basesExon 5: 11,438,067–11,438,124, 58 basesExon 6: 11,441,240–11,441,357, 118 basesExon 7: 11,442,386–11,442,515, 130 basesExon 8: 11,445,389–11,445,473, 85 basesExon 9: 11,446,272–11,446,350, 79 basesExon 10: 11,447,074–11,447,160, 87 basesExon 11: 11,447,439–11,447,618, 180 basesExon 12: 11,447,693–11,447,789, 97 basesExon 13: 11,448,222–11,448,291, 70 basesExon 14: 11,448,540–11,448,629, 90 basesExon 15: 11,448,914–11,448,988, 75 basesExon 16: 11,449,076–11,449,175, 100 basesExon 17: 11,449,266–11,449,428, 163 basesExon 18: 11,450,646–11,450,968, 323 bases1246810121416185′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 15.3 kb; 1,608 of those bases code for the protein.

How a genome test reads PRKCSH

20

positions in PRKCSH 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 15.3 kb of PRKCSH, 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.). PRKCSH gene: PRKCSH beta subunit of glucosidase II. Retrieved 17 October 2026, from https://dantelabs.com/genes/prkcsh

Vancouver

Dante Labs. PRKCSH gene: PRKCSH beta subunit of glucosidase II [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/prkcsh

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