FAM20C

Chr 7p22.3

FAM20C golgi associated secretory pathway kinase

Aliases:: IMAGE:4942737, DKFZp547D065, DMP4, G-CK
MANE:: ENST00000313766.6

OMIM: 611061 ↗NCBI: 56975 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

FAM20C · Q8IXL6

v62025-08-01

Predicted Aligned Error matrix for FAM20C — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

79.5/ 100

Confident

584 residues

Confidence breakdown

Very high(≥ 90)65%
Confident(70–90)5%
Low(50–70)4%
Very low(< 50)26%

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
Arthrogryposis
BIALLELIC, autosomal or pseudoautosomal
Choanal atresia
BIALLELIC, autosomal or pseudoautosomal
Clefting
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Hydrocephalus
BIALLELIC, autosomal or pseudoautosomal
Hypophosphataemia or rickets
BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

lethal osteosclerotic bone dysplasia
0.84
Hypoplastic amelogenesis imperfecta
0.38
poisoning
0.28
response to antihypertensive drug
0.28
glioma
0.28
Alzheimer disease
0.26
Abnormal facial shape
0.26
midline cerebral malformation
0.26
cerebral cortical dysplasia
0.26
pyelonephritis
0.24

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

Protein function (UniProt)

Extracellular serine/threonine protein kinase FAM20C

Golgi serine/threonine protein kinase that phosphorylates secretory pathway proteins within Ser-x-Glu/pSer motifs and plays a key role in biomineralization of bones and teeth (PubMed:22582013, PubMed:23754375, PubMed:25789606). Constitutes the main protein kinase for extracellular proteins, generating the majority of the extracellular phosphoproteome (PubMed:26091039). Mainly phosphorylates proteins within the Ser-x-Glu/pSer motif, but also displays a broader substrate specificity (PubMed:26091039). Phosphorylates ERO1A, enhancing its activity which is required to maintain endoplasmic reticulum redox homeostasis and for oxidative protein folding (PubMed:29858230, PubMed:34349020). During endoplasmic reticulum stress, phosphorylates P4HB/PDIA1 which induces a functional switch, causing P4HB to change from an oxidoreductase to a molecular chaperone (PubMed:32149426). This is critical to maintain ER proteostasis and reduce cell death under ER stress (PubMed:32149426). Phosphorylation of P4HB also promotes its interaction with ERN1, leading to reduced activity of ERN1, a key sensor for the endoplasmic reticulum unfolded protein response (PubMed:32149426). Required for osteoblast differentiation and mineralization (PubMed:34349020). Phosphorylates casein as well as a number of proteins involved in biomineralization such as AMELX, AMTN, ENAM and SPP1/OPN (PubMed:22582013, PubMed:25789606, PubMed:34349020). In addition to its role in biomineralization, also plays a role in lipid homeostasis, wound healing and cell migration and adhesion (PubMed:26091039)