Previous symbols: C4orf13. Aliases: MGC25043, DKFZp566M114, DKFZp313H0531, DKFZp779O2438.
SLC10A7 (solute carrier family 10 member 7) is named by 1 disorder entry.
The ai-gene-review snapshot that dismech currently ingests lists 0 core-function GO terms for SLC10A7. The current upstream review describes a Golgi-membrane protein of the bile acid:sodium symporter fold that acts as a negative regulator of cellular calcium influx and is needed for normal Golgi glycosylation, with no transported substrate yet identified.
The one entry naming SLC10A7 types it as causative, Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis, with germline variants (Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis). ClinGen rates the relationship definitive. The gene sits on the node Biallelic SLC10A7 Loss of Function and on the node Secretory Pathway Calcium Dyshomeostasis.
ClinGen classifies SLC10A7 for 1 disease. The nodes naming SLC10A7 carry 2 process terms (Golgi calcium ion homeostasis; regulation of cytosolic calcium ion concentration); the glycosylation defect is recorded on downstream nodes that do not name the gene.
Underlined values are claims re-computed from the knowledge base each time this page is built. The tables below are the source of truth.
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 |
|---|---|---|
| Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis |
causative
germline
CLINGEN: definitive
|
mechanism: Biallelic SLC10A7 Loss of Function; Secretory Pathway Calcium Dyshomeostasis
animal model: Slc10a7 knockout mouse; slc10a7 morpholino knockdown zebrafish
|
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 |
|---|---|---|---|
| short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis MONDO:0032703 | AR | Definitive 2025-12-10 |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.