IRF6

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]

Description

Interferon regulatory factor 6

Tissue specificity

Tissue enhanced (esophagus, skin)

Subcell location

Nucleoplasm, Cytosol

Predicted location

Intracellular

Protein family

Cancer-related genes
Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)
Transcription factors

Chromosome

1 (209785617 - 209806175)

Ensembl ID

ENSG00000117595  (ver. 103.38)

Orthologs

Mouse Irf6: ENSMUSG00000026638

UniProt

O14896

neXtProt

NX_O14896

Human splice variants
Mouse splice variants

Protein structure