Normal function · from ai-gene-review (Q9Y2R2, commit 79fe13b38970) · AI-generated, not KB evidence

ai-gene-review has this gene at status IN_PROGRESS; 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
Adult-Onset Myasthenia Gravis susceptibility
Autoimmune Polyendocrinopathy risk factor germline
mechanism: Polygenic HLA and Immune-Regulatory Susceptibility
scoped to subtype: Type 2
Celiac Disease susceptibility
Hashimoto's Thyroiditis susceptibility
mechanism: Loss of Immune Tolerance to Thyroid Antigens
Type I Diabetes susceptibility germline
Addison's Disease untyped
Tyrosine phosphatase modulating T-cell receptor signaling
mechanism: Polygenic Susceptibility
Ankylosing Spondylitis untyped
GWAS
Crohn Disease untyped
GWAS
Diabetes mellitus untyped
Susceptibility
scoped to subtype: type 1 diabetes mellitus
Giant Cell Arteritis untyped
Risk Factor
Granulomatosis with Polyangiitis untyped
Risk Factor
Graves' Disease untyped
Risk Factor
Multiple Sclerosis untyped
GWAS
Psoriasis untyped
GWAS
Rheumatoid Arthritis untyped
Associated with increased risk
mechanism: Autoimmune Response
Systemic Lupus Erythematosus untyped
Associated
Ulcerative Colitis untyped
GWAS
Vitiligo untyped
Associated

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