We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. More information. Don't show this again.
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]
Predicted intracellular proteins Transcription factors Helix-turn-helix domains Cancer-related genes Mutated cancer genes Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Cancer-related genes Mutated cancer genes Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000975 [regulatory region DNA binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0005515 [protein binding] GO:0006355 [regulation of transcription, DNA-templated]
Predicted intracellular proteins Transcription factors Helix-turn-helix domains Cancer-related genes Mutated cancer genes Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)