Previous symbols: ANPRB, NPRB, AMDM. Aliases: GUCY2B, ANPb, GC-B.
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 |
|---|---|---|
| Acromesomelic Dysplasia Maroteaux Type | causative germline |
mechanism: Biallelic NPR2 Loss of Function; Reduced CNP-Stimulated Guanylyl Cyclase Activity and cGMP; Variant-Specific NPR-B Biogenesis and Catalytic Failure
animal model: Mus musculus
|
| Tall Stature-Scoliosis-Macrodactyly of the Great Toes Syndrome | causative germline gain of function |
mechanism: Constitutive and CNP-Hypersensitive NPR-B Guanylyl Cyclase Activity; Heterozygous Activating NPR2 Variant
animal model: Col11a2-NPR2 p.Val883Met transgenic mouse
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.