FAM20C
Chr 7ARFAM20C golgi associated secretory pathway kinase
Also known as: DMP-4, DMP4, G-CK, GEF-CK, RNS
FAM20C encodes a Golgi serine/threonine protein kinase that phosphorylates secretory pathway proteins and plays a key role in biomineralization of bones and teeth, as well as maintaining endoplasmic reticulum homeostasis. Mutations cause Raine syndrome, an autosomal recessive disorder affecting skeletal development and mineralization. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.489), consistent with its recessive inheritance pattern.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
100 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 1 | 1 | 3 | 0 | 5 |
Likely Pathogenic | 2 | 2 | 0 | 0 | 4 |
VUS | 0 | 30 | 2 | 0 | 32 |
Likely Benign | 0 | 1 | 17 | 39 | 57 |
Benign | 0 | 1 | 0 | 0 | 1 |
Conflicting | — | 1 | |||
| Total | 3 | 35 | 22 | 39 | 100 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
FAM20C · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools