IL7R

interleukin 7 receptor

2 disorders 2 untyped 5p13.2 gene with protein product

HGNC:6024 Monarch NCBI Gene 3575 ENSG00000168685 UniProt P16871 OMIM 146661

Aliases: CD127, IL7RA, lnc-IL7R, IL-7Ralpha, IL7Ralpha, sIL-7R, CDw127.

Normal function · from ai-gene-review (P16871, 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.

Disorder	Relationship	Where the gene appears
Multiple Sclerosis	untyped Risk Factor	mechanism: Th1/Th17-Mediated Neuroinflammation
Severe Combined Immunodeficiency	untyped Causative	mechanism: Cytokine receptor signaling defect subtype: IL7R deficiency scoped to subtype: IL7R deficiency

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 disease	MOI	Classification	dismech entry
immunodeficiency 104 MONDO:0012163	AR	Definitive 2021-06-22	no dismech entry

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