Gene
PIGB
phosphatidylinositol glycan anchor biosynthesis class B
- HGNC 8959↗(opens in a new tab)
- Ensembl gene ENSG00000069943↗(opens in a new tab)
- NCBI Gene 9488↗(opens in a new tab)
Summary
- Cytogenetic location
- 15q21.3
- Coordinates
- Chromosome 15: 55,319,222–55,355,648 (GRCh38)
- Exons
- 12 exons across 36.4 kb
- Protein
- 554 amino acids
- Also known as
- PIG-B, GPI-MT-III
- MANE Select transcript
- ENST00000164305.10NM_004855.5
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome TestCurated reports 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.
- ClinGen rates the link moderate
- 3 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 moderate
- 3 GenCC submitters rate it definitive or strong
How PIGB is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
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 1.9 kb of the gene's 36.4 kb; 1,665 of those bases code for the protein.
How a genome test reads PIGB
8
positions in PIGB 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 36.4 kb of PIGB, introns included, not only the 1.9 kb of exons.
Genes linked to the same conditions
- PIGAphosphatidylinositol glycan anchor biosynthesis class AShares 2 conditions
- PIGPphosphatidylinositol glycan anchor biosynthesis class PShares 2 conditions
- PIGQphosphatidylinositol glycan anchor biosynthesis class QShares 2 conditions
- PIGSphosphatidylinositol glycan anchor biosynthesis class SShares 2 conditions
- AARS1alanyl-tRNA synthetase 1Shares 1 condition
- ABAT4-aminobutyrate aminotransferaseShares 1 condition
- ACTL6Bactin like 6BShares 1 condition
- ADAM22ADAM metallopeptidase domain 22Shares 1 condition
- ALDH7A1aldehyde dehydrogenase 7 family member A1Shares 1 condition
- ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunitShares 1 condition
- AP3B2adaptor related protein complex 3 subunit beta 2Shares 1 condition
- ARHGEF9Cdc42 guanine nucleotide exchange factor 9Shares 1 condition
Traits linked to PIGB
The Human Phenotype Ontology lists these as features of the rare conditions PIGB can cause. Each trait's page lists the other genes linked to it.
Abnormality of the eye
- Wide-set eyes
- Abnormally small eyeball
- Bulging eye
- Iris degeneration
- Optic atrophy
- Abnormal visual fixation
- Drooping upper eyelid
- Optic disc pallor
Show 1 more trait
External links
Gene records
Transcript
Protein
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
Dante Labs. (n.d.). PIGB gene: phosphatidylinositol glycan anchor biosynthesis class B. Retrieved 17 October 2026, from https://dantelabs.com/genes/pigb
Dante Labs. PIGB gene: phosphatidylinositol glycan anchor biosynthesis class B [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/pigb
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