IRF6 interferon regulatory factor 6
Gene ID: 3664, updated on 7-Apr-2024Gene type: protein coding
Also known as: LPS; PIT; PPS; VWS; OFC6; PPS1; VWS1
- See all available tests in GTR for this gene
- Go to complete Gene record for IRF6
- Go to Variation Viewer for IRF6 variants
Summary
This gene encodes a member of the interferon regulatory transcription factor (IRF) family. Family members share a highly-conserved N-terminal helix-turn-helix DNA-binding domain and a less conserved C-terminal protein-binding domain. The encoded protein may be a transcriptional activator. Mutations in this gene can cause van der Woude syndrome and popliteal pterygium syndrome. Mutations in this gene are also associated with non-syndromic orofacial cleft type 6. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2011]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4. GeneReviews: Not available | |
| Autosomal dominant popliteal pterygium syndrome | See labs |
| Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci. GeneReviews: Not available | |
| Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24. GeneReviews: Not available | |
| Orofacial cleft 6, susceptibility to | See labs |
| Van der Woude syndrome 1 | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2012-07-06) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2012-07-06) ClinGen Genome Curation Page |
Genomic context
- Location:
- 1q32.2
- Sequence:
- Chromosome: 1; NC_000001.11 (209785617..209806142, complement)
- Total number of exons:
- 9
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for IRF6 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- IRF6 database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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