Gene
PADI6
peptidyl arginine deiminase 6
- HGNC 20449↗(opens in a new tab)
- Ensembl gene ENSG00000276747↗(opens in a new tab)
- NCBI Gene 353238↗(opens in a new tab)
Summary
- Cytogenetic location
- 1p36.13
- Coordinates
- Chromosome 1: 17,372,196–17,401,699 (GRCh38)
- Exons
- 16 exons across 29.5 kb
- Protein
- 694 amino acids
- MANE Select transcript
- ENST00000619609.1NM_207421.4
- 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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Female Infertility
- inherited oocyte maturation defect
- 3 GenCC submitters rate it definitive or strong
How PADI6 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 2.4 kb of the gene's 29.5 kb; 2,085 of those bases code for the protein.
How a genome test reads PADI6
16
positions in PADI6 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 29.5 kb of PADI6, introns included, not only the 2.4 kb of exons.
Genes linked to the same conditions
- BTG4BTG anti-proliferation factor 4Shares 1 condition
- CDC20cell division cycle 20Shares 1 condition
- KPNA7karyopherin subunit alpha 7Shares 1 condition
- MOSMOS proto-oncogene, serine/threonine kinaseShares 1 condition
- NLRP2NLR family pyrin domain containing 2Shares 1 condition
- NLRP5NLR family pyrin domain containing 5Shares 1 condition
- PANX1pannexin 1Shares 1 condition
- PATL2PAT1 homolog 2Shares 1 condition
- REC114REC114 meiotic recombination proteinShares 1 condition
- TRIP13thyroid hormone receptor interactor 13Shares 1 condition
- TUBA4Atubulin alpha 4aShares 1 condition
- TUBB8tubulin beta 8 class VIIIShares 1 condition
Traits linked to PADI6
The Human Phenotype Ontology lists these as features of the rare conditions PADI6 can cause. Each trait's page lists the other genes linked to it.
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.). PADI6 gene: peptidyl arginine deiminase 6. Retrieved 17 October 2026, from https://dantelabs.com/genes/padi6
Dante Labs. PADI6 gene: peptidyl arginine deiminase 6 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/padi6
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