Normal function · from ai-gene-review (P01589, 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
Alopecia Areata susceptibility germline
mechanism: IFN-gamma–IL-15 JAK-STAT Feedback; Impaired Regulatory T Cell Control
CD25 Deficiency causative germline
CLINGEN: definitive
mechanism: IL2RA Coding Frameshift Deletions; IL2RA Coding Frameshift Duplication; IL2RA Coding Substitutions; IL2RA Exon-Level Deletions; IL2RA Splice-Site Substitutions; Impaired High-Affinity IL-2 Capture; Reduced Surface CD25 Availability
Type I Diabetes susceptibility germline
Diabetes mellitus untyped
Susceptibility
scoped to subtype: type 1 diabetes mellitus
Multiple Sclerosis untyped
Risk Factor
mechanism: Th1/Th17-Mediated Neuroinflammation
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
immunodeficiency due to CD25 deficiency MONDO:0011664 AR Definitive
2025-02-05
CD25 Deficiency causative

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