Previous symbols: NPT2, SLC17A2. Aliases: NAPI-3, NPTIIa, SLC11.
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 |
|---|---|---|
| Hereditary Hypophosphatemic Rickets with Hypercalciuria | modifier germline |
animal model: Npt2a/Npt2c double-knockout mouse
|
| Fanconi Renotubular Syndrome |
untyped
Causative
|
mechanism: Proximal tubular transport and energy-metabolism defect
subtype: FRTS2
|
| Infantile Hypercalcemia | untyped |
mechanism: SLC34A1 renal phosphate transport defect
|
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 |
|---|---|---|---|
| Fanconi renotubular syndrome 2 MONDO:0013247 | AR | Disputed 2025-12-03 |
Fanconi Renotubular Syndrome
untyped
|
| hypercalcemia, infantile, 2 MONDO:0014851 | AR | Definitive 2022-10-19 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.