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Gene

PIGH

phosphatidylinositol glycan anchor biosynthesis class H

Summary

Cytogenetic location
14q24.1
Coordinates
Chromosome 14: 67,589,318–67,600,268 (GRCh38)
Exons
4 exons across 11 kb
Protein
188 amino acids
Also known as
GPI-H
MANE Select transcript
ENST00000216452.9NM_004569.5
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 report relevant to this gene

  • GPI Anchor Biosynthesis Defects

    • 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.

      • 3 GenCC submitters rate it definitive or strong

How PIGH is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 14, with a bracket where PIGH sits. PIGH and 15 genes near it on chromosome 14, from 67,094,793 to 68,094,792.Chromosome 1414q24.1p13p12p11.2p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.11q32.12q32.13q32.2q32.31q32.32q32.3367.2 Mb67.4 Mb67.6 Mb67.8 Mb68 MbGPHN: 66,507,407–67,181,806, forward strandGPHNGARIN2: 67,189,328–67,228,550, forward strandGARIN2PALS1: 67,240,713–67,336,061, forward strandPALS1ATP6V1D: 67,294,371–67,360,265, reverse strandATP6V1DEIF2S1: 67,359,993–67,394,395, forward strandEIF2S1PLEK2: 67,385,652–67,412,236, reverse strandPLEK2TMEM229B: 67,447,084–67,533,878, reverse strandTMEM229BPLEKHH1: 67,533,063–67,589,725, forward strandPLEKHH1PIGH: 67,589,318–67,600,268, reverse strandPIGHARG2: 67,619,857–67,667,328, forward strandARG2VTI1B: 67,635,307–67,674,920, reverse strandVTI1B: 67,659,820–67,690,367, reverse strandRDH11: 67,676,792–67,695,793, reverse strandRDH11RDH12: 67,701,886–67,734,451, forward strandRDH12ZFYVE26: 67,727,374–67,816,590, reverse strandZFYVE26RAD51B: 67,819,741–68,730,218, forward strandRAD51BDiagram of PIGH: 4 exons on the reverse strand of chromosome 14Exon 2: 1 known disease-causing siteExon 4: 67,589,318–67,590,172, 855 basesExon 3: 67,592,635–67,592,718, 84 basesExon 2: 67,593,743–67,593,952, 210 basesExon 1: 67,600,024–67,600,268, 245 bases43215′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 1.4 kb of the gene's 11 kb; 567 of those bases code for the protein.

How a genome test reads PIGH

1

position in PIGH 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 11 kb of PIGH, introns included, not only the 1.4 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.). PIGH gene: phosphatidylinositol glycan anchor biosynthesis class H. Retrieved 16 October 2026, from https://dantelabs.com/genes/pigh

Vancouver

Dante Labs. PIGH gene: phosphatidylinositol glycan anchor biosynthesis class H [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/pigh

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