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Gene

PADI3

peptidyl arginine deiminase 3

Summary

Cytogenetic location
1p36.13
Coordinates
Chromosome 1: 17,249,098–17,284,233 (GRCh38)
Exons
16 exons across 35.1 kb
Protein
664 amino acids
Inheritance
Autosomal recessive
Also known as
PDI3
MANE Select transcript
ENST00000375460.3NM_016233.2
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

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How PADI3 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 1, with a bracket where PADI3 sits. PADI3 and 12 genes near it on chromosome 1, from 16,766,666 to 17,766,665.Chromosome 11p36.13p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q4416.8 Mb17 Mb17.2 Mb17.4 Mb17.6 MbCROCC: 16,740,273–16,972,964, forward strandCROCCMFAP2: 16,972,933–16,981,616, reverse strandMFAP2ATP13A2: 16,985,958–17,011,986, reverse strandATP13A2: 17,005,068–17,011,757, reverse strandSDHB: 17,018,664–17,054,210, reverse strandSDHBPADI2: 17,066,761–17,119,459, reverse strandPADI2PADI1: 17,205,120–17,246,007, forward strandPADI1PADI3: 17,249,098–17,284,233, forward strandPADI3PADI4: 17,308,195–17,364,004, forward strandPADI4PADI6: 17,372,196–17,401,699, forward strandPADI6RCC2: 17,406,755–17,439,992, reverse strandRCC2ARHGEF10L: 17,539,368–17,697,876, forward strandARHGEF10LACTL8: 17,755,310–17,827,063, forward strandACTL8Diagram of PADI3: 16 exons on the forward strand of chromosome 1Exon 3: 1 known disease-causing siteExon 8: 1 known disease-causing siteExon 15: 1 known disease-causing siteExon 1: 17,249,098–17,249,229, 132 basesExon 2: 17,259,578–17,259,758, 181 basesExon 3: 17,262,133–17,262,205, 73 basesExon 4: 17,265,659–17,265,720, 62 basesExon 5: 17,266,719–17,266,836, 118 basesExon 6: 17,267,837–17,267,962, 126 basesExon 7: 17,270,233–17,270,411, 179 basesExon 8: 17,270,879–17,270,982, 104 basesExon 9: 17,271,067–17,271,178, 112 basesExon 10: 17,273,340–17,273,447, 108 basesExon 11: 17,274,635–17,274,786, 152 basesExon 12: 17,276,519–17,276,663, 145 basesExon 13: 17,276,774–17,276,876, 103 basesExon 14: 17,280,350–17,280,429, 80 basesExon 15: 17,280,671–17,280,796, 126 basesExon 16: 17,282,846–17,284,233, 1,388 bases12468101214165′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 3.2 kb of the gene's 35.1 kb; 1,995 of those bases code for the protein.

How a genome test reads PADI3

4

positions in PADI3 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 35.1 kb of PADI3, introns included, not only the 3.2 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.). PADI3 gene: peptidyl arginine deiminase 3. Retrieved 17 October 2026, from https://dantelabs.com/genes/padi3

Vancouver

Dante Labs. PADI3 gene: peptidyl arginine deiminase 3 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/padi3

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