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Gene

PIGQ

phosphatidylinositol glycan anchor biosynthesis class Q

Summary

Cytogenetic location
16p13.3
Coordinates
Chromosome 16: 569,968–584,109 (GRCh38)
Exons
11 exons across 14.1 kb
Protein
581 amino acids
Also known as
hGPI1, GPI1
MANE Select transcript
ENST00000321878.10NM_004204.5
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 reports relevant to this gene

  • GPI Anchor Biosynthesis Defects

    • Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome

      A group of GPI anchor defects (PIGN, PIGA, PIGT, PIGQ and related genes) with low muscle tone, seizures, developmental delay and congenital anomalies.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong
    • Disorders of GPI Anchor Biosynthesis

      A group of inherited conditions caused by variants in the PIG, PGAP and related genes needed to make and attach the GPI anchor, typically causing developmental delay, low muscle tone and epilepsy.

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

Broader groupings

  • Epilepsy (Full Panel)

    • Epilepsy

      One of 171 genes linked to it

      A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.

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

How PIGQ 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 PIGQ sits. PIGQ and 46 genes near it on chromosome 16, from 77,039 to 1,077,038.Chromosome 1616p13.3p13.3p13.2p13.13p13.12p13.11p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q13q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.30.2 Mb0.4 Mb0.6 Mb0.8 Mb1 MbRHBDF1: 58,058–78,176, reverse strandRHBDF1MPG: 77,007–136,889, forward strandMPGNPRL3: 79,387–138,720, reverse strandNPRL3HBZ: 142,728–154,503, forward strandHBM: 153,892–166,770, forward strandHBMHBA2: 172,021–173,910, forward strandHBA2HBA1: 176,660–177,527, forward strandHBA1HBQ1: 180,437–181,181, forward strandHBQ1LUC7L: 188,943–229,485, reverse strandLUC7LFAM234A: 234,521–272,183, forward strandRGS11: 268,301–275,980, reverse strandRGS11ARHGDIG: 280,386–283,010, forward strandARHGDIGPDIA2: 283,152–287,215, forward strandPDIA2AXIN1: 287,440–352,734, reverse strandAXIN1MRPL28: 365,449–371,289, reverse strandMRPL28PGAP6: 370,779–387,113, reverse strandPGAP6NME4: 396,725–410,367, forward strandNME4DECR2: 401,834–412,492, forward strandDECR2RAB11FIP3: 425,593–523,012, forward strandRAB11FIP3CAPN15: 527,698–554,636, forward strandCAPN15PRR35: 559,688–565,532, forward strandPRR35NHLRC4: 567,000–569,495, forward strandNHLRC4PIGQ: 569,968–584,109, forward strandPIGQRAB40C: 589,007–629,348, forward strandRAB40CWFIKKN1: 629,239–634,117, forward strandWFIKKN1METTL26: 634,412–636,378, reverse strandMETTL26MCRIP2: 636,817–648,475, forward strandMCRIP2WDR90: 649,287–667,837, forward strandRHOT2: 668,081–674,174, forward strandRHBDL1: 675,605–678,275, forward strandSTUB1: 679,980–682,870, forward strandJMJD8: 681,666–684,528, reverse strandWDR24: 684,614–690,444, reverse strandFBXL16: 692,498–705,860, reverse strandFBXL16METRN: 715,093–719,796, forward strandMETRNANTKMT: 720,581–722,590, forward strandANTKMTCCDC78: 722,581–726,954, reverse strandHAGHL: 726,494–735,525, forward strandCIAO3: 729,721–741,329, reverse strandMSLN: 760,729–768,866, forward strandMSLNMSLNL: 769,428–782,054, reverse strandMSLNLRPUSD1: 784,974–788,406, reverse strandRPUSD1CHTF18: 788,046–800,737, forward strandCHTF18GNG13: 798,020–800,770, reverse strandLMF1: 853,618–981,318, reverse strandLMF1SOX8: 981,444–986,979, forward strandSOX8SSTR5: 1,063,867–1,081,470, forward strandSSTR5Diagram of PIGQ: 11 exons on the forward strand of chromosome 16Exon 2: 22 known disease-causing sitesExon 3: 2 known disease-causing sitesExon 4: 1 known disease-causing siteExon 5: 4 known disease-causing sitesExon 6: 4 known disease-causing sitesExon 7: 2 known disease-causing sitesExon 8: 1 known disease-causing siteExon 9: 1 known disease-causing siteExon 1: 569,968–570,096, 129 basesExon 2: 574,066–574,763, 698 basesExon 3: 575,839–575,970, 132 basesExon 4: 576,134–576,254, 121 basesExon 5: 578,379–578,505, 127 basesExon 6: 578,785–578,938, 154 basesExon 7: 579,069–579,180, 112 basesExon 8: 580,183–580,263, 81 basesExon 9: 580,858–580,972, 115 basesExon 10: 582,248–582,309, 62 basesExon 11: 582,883–584,109, 1,227 bases12345678910115′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 3 kb of the gene's 14.1 kb; 1,746 of those bases code for the protein.

How a genome test reads PIGQ

41

positions in PIGQ 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 14.1 kb of PIGQ, introns included, not only the 3 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.). PIGQ gene: phosphatidylinositol glycan anchor biosynthesis class Q. Retrieved 17 October 2026, from https://dantelabs.com/genes/pigq

Vancouver

Dante Labs. PIGQ gene: phosphatidylinositol glycan anchor biosynthesis class Q [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/pigq

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