Normal function · from ai-gene-review (Q15306, commit 79fe13b38970) · AI-generated, not KB evidence

ai-gene-review has this gene at status DRAFT; the description is shown only once the review is complete. Read the draft upstream.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

DisorderRelationshipWhere the gene appears
Celiac Disease susceptibility
Immunodeficiency 131 causative
animal model: Heterozygous Irf4 T95R knock-in mouse
Rosacea susceptibility
Type I Diabetes susceptibility germline
Asthma untyped
GWAS
Atopic Dermatitis untyped
GWAS
Crohn Disease untyped
GWAS
Psoriasis untyped
GWAS
Rheumatoid Arthritis untyped
GWAS
Systemic Lupus Erythematosus untyped
GWAS
Vitiligo untyped
Associated
Primary_Tonsillar_Lymphoma no genetic record somatic
mechanism: IRF4-rearranged Large B-cell Lymphoma
ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen diseaseMOIClassificationdismech entry
combined immunodeficiency MONDO:0015131 AD Definitive
2024-12-10
no dismech entry

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.