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Gene

IRF6

interferon regulatory factor 6

Summary

Cytogenetic location
1q32.2
Coordinates
Chromosome 1: 209,785,617–209,806,142 (GRCh38)
Exons
9 exons across 20.5 kb
Protein
467 amino acids
Inheritance
Autosomal dominant
Also known as
OFC6, VWS1
Previous symbols
VWS, LPS
MANE Select transcript
ENST00000367021.8NM_006147.4
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

  • Hereditary Orofacial Clefting

    • Van der Woude SyndromeAutosomal dominant

      Cleft lip and/or palate together with pits in the lower lip, usually caused by IRF6 variants and less often by GRHL3 variants, with incomplete penetrance and variable features.

      • 4 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing can inform recurrence risk, which is up to 50% for each child, and support early surgical and dental planning.

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How IRF6 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 IRF6 sits. IRF6 and 10 genes near it on chromosome 1, from 209,295,880 to 210,295,879.Chromosome 11q32.2p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q44209.4 Mb209.6 Mb209.8 Mb210 Mb210.2 MbCAMK1G: 209,583,714–209,613,939, forward strandCAMK1GLAMB3: 209,614,870–209,653,146, reverse strandLAMB3G0S2: 209,675,405–209,676,390, forward strandG0S2HSD11B1: 209,686,174–209,745,624, forward strandHSD11B1TRAF3IP3: 209,755,573–209,782,320, forward strandTRAF3IP3C1orf74: 209,779,208–209,784,620, reverse strandC1orf74: 209,779,629–209,806,179, reverse strandIRF6: 209,785,617–209,806,142, reverse strandIRF6UTP25: 209,827,956–209,857,565, forward strandUTP25SYT14: 209,900,923–210,171,389, forward strandSYT14SERTAD4: 210,232,572–210,247,734, forward strandSERTAD4Diagram of IRF6: 9 exons on the reverse strand of chromosome 1Exon 9: 8 known disease-causing sitesExon 8: 7 known disease-causing sitesExon 7: 25 known disease-causing sitesExon 6: 6 known disease-causing sitesExon 5: 6 known disease-causing sitesExon 4: 22 known disease-causing sitesExon 3: 16 known disease-causing sitesExon 1: 1 known disease-causing siteExon 9: 209,785,617–209,788,644, 3,028 basesExon 8: 209,789,667–209,789,785, 119 basesExon 7: 209,790,495–209,790,887, 393 basesExon 6: 209,792,269–209,792,427, 159 basesExon 5: 209,795,290–209,795,418, 129 basesExon 4: 209,796,348–209,796,552, 205 basesExon 3: 209,801,240–209,801,416, 177 basesExon 2: 209,801,972–209,802,043, 72 basesExon 1: 209,805,947–209,806,142, 196 bases9876543215′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 4.5 kb of the gene's 20.5 kb; 1,404 of those bases code for the protein.

How a genome test reads IRF6

100

positions in IRF6 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 20.5 kb of IRF6, introns included, not only the 4.5 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.). IRF6 gene: interferon regulatory factor 6. Retrieved 17 October 2026, from https://dantelabs.com/genes/irf6

Vancouver

Dante Labs. IRF6 gene: interferon regulatory factor 6 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/irf6

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