Skip to content
GenoLensGenoLens

IRF4

Chr 6p25.3

interferon regulatory factor 4

Aliases:
LSIRF
MANE:
ENST00000380956.9

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • COVID-19 research

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Primary immunodeficiency or monogenic inflammatory bowel disease

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Fetal anomalies

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • Pigmentary skin disorders

  • Multiple monogenic benign skin tumours

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • B-cell chronic lymphocytic leukemia

    0.62
  • melanoma

    0.57
  • plasma cell myeloma

    0.56
  • cutaneous melanoma

    0.54
  • neurodegenerative disease

    0.54
  • skin cancer

    0.54
  • skin neoplasm

    0.53
  • hair color

    0.53
  • skin disorder

    0.53
  • neoplasm

    0.53

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Interferon regulatory factor 4

Transcriptional activator. Binds to the interferon-stimulated response element (ISRE) of the MHC class I promoter. Binds the immunoglobulin lambda light chain enhancer, together with PU.1. Probably plays a role in ISRE-targeted signal transduction mechanisms specific to lymphoid cells. Involved in CD8(+) dendritic cell differentiation by forming a complex with the BATF-JUNB heterodimer in immune cells, leading to recognition of AICE sequence (5'-TGAnTCA/GAAA-3'), an immune-specific regulatory element, followed by cooperative binding of BATF and IRF4 and activation of genes

Curated MONDO disease pages that list IRF4 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.