FAM20A

Chr 17q24.2

FAM20A golgi associated secretory pathway pseudokinase

Aliases:: DKFZp434F2322
MANE:: ENST00000592554.2

OMIM: 611062 ↗NCBI: 54757 ↗Ensembl ↗

Annotations refreshed 11 hours ago.

Predicted protein structure

AlphaFold predicted structure

FAM20A · Q96MK3

v62025-08-01

Predicted Aligned Error matrix for FAM20A — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

85.3/ 100

Confident

541 residues

Confidence breakdown

Very high(≥ 90)67%
Confident(70–90)15%
Low(50–70)6%
Very low(< 50)12%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Amelogenesis imperfecta
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Nephrocalcinosis or nephrolithiasis
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

amelogenesis imperfecta type 1G
0.80
Amelogenesis imperfecta and gingival hyperplasia syndrome
0.37
otosclerosis
0.33
Chorioretinal scar
0.27
Alzheimer disease
0.27
hearing loss, mixed conductive-sensorineural
0.21
cholelithiasis
0.20
hereditary disease
0.19
Carney complex, type 1
0.15
Acrodysostosis 1 with or without hormone resistance
0.13

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Pseudokinase FAM20A

Pseudokinase that acts as an allosteric activator of the Golgi serine/threonine protein kinase FAM20C and is involved in biomineralization of teeth. Forms a complex with FAM20C and increases the ability of FAM20C to phosphorylate the proteins that form the 'matrix' that guides the deposition of the enamel minerals