Gene
G6PC3
glucose-6-phosphatase catalytic subunit 3
- HGNC 24861↗(opens in a new tab)
- Ensembl gene ENSG00000141349↗(opens in a new tab)
- NCBI Gene 92579↗(opens in a new tab)
Summary
- Cytogenetic location
- 17q21.31
- Coordinates
- Chromosome 17: 44,070,735–44,076,344 (GRCh38)
- Exons
- 6 exons across 5.6 kb
- Protein
- 346 amino acids
- Also known as
- UGRP
- MANE Select transcript
- ENST00000269097.9NM_138387.4
- 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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Severe Congenital Neutropenia
- ClinGen rates the link definitive
- 4 GenCC submitters rate it definitive or strong
How G6PC3 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
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 1.6 kb of the gene's 5.6 kb; 1,041 of those bases code for the protein.
How a genome test reads G6PC3
43
positions in G6PC3 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 5.6 kb of G6PC3, introns included, not only the 1.6 kb of exons.
Genes linked to the same conditions
- CLPBClpB family mitochondrial disaggregaseShares 1 condition
- CSF3Rcolony stimulating factor 3 receptorShares 1 condition
- CXCR2C-X-C motif chemokine receptor 2Shares 1 condition
- GFI1growth factor independent 1 transcriptional repressorShares 1 condition
- HAX1HCLS1 associated protein X-1Shares 1 condition
- JAGN1jagunal vesicle mediated transporter 1Shares 1 condition
- SRP54signal recognition particle 54Shares 1 condition
- VPS45vacuolar protein sorting 45 homologShares 1 condition
- WASWASP actin nucleation promoting factorShares 1 condition
Traits linked to G6PC3
The Human Phenotype Ontology lists these as features of the rare conditions G6PC3 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the cardiovascular system
- Prominent veins
- Secundum atrial septal defect
- Cor triatriatum
- Enlarged liver and spleen
- Mitral regurgitation
- Narrowing of pulmonic valve
- Patent ductus arteriosus
- Increased blood pressure in blood vessels of lungs
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.). G6PC3 gene: glucose-6-phosphatase catalytic subunit 3. Retrieved 16 October 2026, from https://dantelabs.com/genes/g6pc3
Dante Labs. G6PC3 gene: glucose-6-phosphatase catalytic subunit 3 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/g6pc3
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