JAK3

Janus kinase 3

2 disorders 2 untyped 19p13.11 gene with protein product

HGNC:6193 Monarch NCBI Gene 3718 ENSG00000105639 UniProt P52333 OMIM 600173

Aliases: L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3.

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.

Disorder	Relationship	Where the gene appears
Primary Cutaneous Aggressive Epidermotropic CD8+ T-cell Lymphoma	untyped Somatic activating mutation in JAK-STAT pathway somatic gain of function	mechanism: JAK2-SH2B3 Axis Deregulation
Severe Combined Immunodeficiency	untyped Causative	mechanism: Cytokine receptor signaling defect subtype: JAK3 deficiency scoped to subtype: JAK3 deficiency

ClinGen gene–disease validity · snapshot 2026-10-24 · 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 disease	MOI	Classification	dismech entry
T-B+ severe combined immunodeficiency due to JAK3 deficiency MONDO:0010938	AR	Definitive 2020-12-18	Severe Combined Immunodeficiency untyped

Mechanism modules · computed from kb/

jak_stat_pathway_activation named in the module itself

Identity from HGNC (snapshot 2026-10-24). Page layers are described in the gene pages documentation.