Gene
PIGG
phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)
- HGNC 25985↗(opens in a new tab)
- Ensembl gene ENSG00000174227↗(opens in a new tab)
- NCBI Gene 54872↗(opens in a new tab)
Summary
- Cytogenetic location
- 4p16.3
- Coordinates
- Chromosome 4: 499,210–540,200 (GRCh38)
- Exons
- 13 exons across 41 kb
- Protein
- 983 amino acids
- Also known as
- FLJ20265, GPI7, LAS21
- MANE Select transcript
- ENST00000453061.7NM_001127178.3
- 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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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.
- 4 GenCC submitters rate it definitive or strong
Broader groupings
Congenital Disorders of Glycosylation
- Congenital Disorders of Glycosylation (CDG)
One of 98 genes linked to it
A large group of inherited conditions in which sugar chains (glycans) are not correctly built or attached to proteins and lipids, often affecting the brain, liver, blood clotting, growth and many other body systems. Most are autosomal recessive, but some are X-linked or autosomal dominant.
- 4 GenCC submitters rate it definitive or strong
Intellectual Disability
One of 233 genes linked to it
- 4 GenCC submitters rate it definitive or strong
How PIGG 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 3.9 kb of the gene's 41 kb; 2,952 of those bases code for the protein.
How a genome test reads PIGG
73
positions in PIGG 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 41 kb of PIGG, introns included, not only the 3.9 kb of exons.
Genes linked to the same conditions
- PIGLphosphatidylinositol glycan anchor biosynthesis class LShares 3 conditions
- ATP6AP2ATPase H+ transporting accessory protein 2Shares 2 conditions
- MAN1B1mannosidase alpha class 1B member 1Shares 2 conditions
- NUS1NUS1 dehydrodolichyl diphosphate synthase subunitShares 2 conditions
- PGAP2post-GPI attachment to proteins 2Shares 2 conditions
- PGAP3post-GPI attachment to proteins phospholipase 3Shares 2 conditions
- PIGAphosphatidylinositol glycan anchor biosynthesis class AShares 2 conditions
- PIGCphosphatidylinositol glycan anchor biosynthesis class CShares 2 conditions
- PIGNphosphatidylinositol glycan anchor biosynthesis class NShares 2 conditions
- PIGOphosphatidylinositol glycan anchor biosynthesis class OShares 2 conditions
- PIGTphosphatidylinositol glycan anchor biosynthesis class TShares 2 conditions
- PIGVphosphatidylinositol glycan anchor biosynthesis class VShares 2 conditions
Traits linked to PIGG
The Human Phenotype Ontology lists these as features of the rare conditions PIGG can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Abnormal lip
- Abnormality of the mouth
- Abnormality of the philtrum
- Abnormally small head
- Downturned corners of mouth
- Downward slanting of the opening between the eyelids
- Eye folds
- Failure of development of between one and six teeth
Show 19 more traits
- Frontal bossing
- High forehead
- High frontal hairline
- Highly arched eyebrow
- Little lower jaw
- Long, narrow head
- Low hairline at back of neck
- Short philtrum
- Wide nasal bridge
- Abnormal facial shape
- Cleft upper lip
- Cranial defect
- Delayed eruption of teeth
- Pit in front of the ear
- Taurodontia
- Cleft palate
- Depressed nasal bridge
- Thin red part of the upper lip
- Wide nose
Abnormality of the nervous system
- Global developmental delay
- IQ less than 20
- Ataxia
- Epilepsy
- Intellectual disability, severe
- Severe global developmental delay
- Abnormal lateral ventricle morphology
- Abnormality of balance
Show 19 more traits
- Decreased reflex response
- Degeneration of cerebrum
- Delayed ability to walk
- Delayed speech and language development
- Difficulty sleeping
- Inability to coordinate movements when walking
- Small cerebellum
- Tethered cord
- Underdevelopment of part of brain called corpus callosum
- Abnormality of movement
- Absent speech development
- Absent/small cerebellum
- Agenesis of corpus callosum
- Autism spectrum disorder
- Degeneration of cerebellum
- Drowsiness
- EEG with focal spikes
- Grand mal seizures
- Severe demyelination of the white matter
Abnormality of limbs
- Abnormal feet structure
- Club feet
- Extra thumb
- Long slender fingers
- Short big toe
- Short thumb
- Split hand
- Dropped arches
Show 3 more traits
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.). PIGG gene: phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group). Retrieved 16 October 2026, from https://dantelabs.com/genes/pigg
Dante Labs. PIGG gene: phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/pigg
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