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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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FAM20B
FAM20B glycosaminoglycan xylosylkinase
Chromosome 1 · 1q25.2
NCBI Gene: 9917Ensembl: ENSG00000116199.13HGNC: HGNC:23017UniProt: O75063
39PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Kinase
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingGolgi apparatusphosphotransferase activity, alcohol group as acceptorproteoglycan biosynthetic processAlzheimer diseaseconnective tissue diseaseknee fractureAllergy
✦AI Summary

FAM20B is a Golgi-localized glycosaminoglycan xylosylkinase that catalyzes 2-O-phosphorylation of xylose residues in the proteoglycan tetrasaccharide linkage region 1. This phosphorylation acts as a molecular switch regulating proteoglycan biosynthesis by enhancing galactosyl transferase II (GalT-II/B3GALT6) activity, enabling subsequent glycosaminoglycan (GAG) chain synthesis on heparan sulfate and chondroitin sulfate proteoglycans 1. FAM20B has a unique active site structure specifically recognizing the Galβ1-4Xylβ1 disaccharide within this linker region 2. Functionally, FAM20B activity must be balanced with the 2-phosphoxylose phosphatase XYLP for optimal GAG chain synthesis; both gain-of-function and loss-of-function of FAM20B reduce GAG production 3. During temporomandibular joint development, FAM20B-catalyzed GAG synthesis regulates chondrogenic and osteogenic differentiation by controlling Indian hedgehog diffusion and signaling 4. Clinically, decreased FAM20B expression associates with cartilage degradation in osteoarthritis and Kashin-Beck disease 5. FAM20B gain-of-function inhibits glioblastoma cell proliferation and migration through GAG chain reduction 3. Loss-of-function mutations in FAM20B cause proteoglycan maturation defects similar to B3GALT6 mutations in Ehlers-Danlos syndrome 1.

Sources cited
1
FAM20B phosphorylates xylose in proteoglycan tetrasaccharide linkage region acting as molecular switch; supports GalT-II/B3GALT6 activity; loss causes truncated linkage region and maturation defects similar to B3GALT6 mutations in EDS
PMID: 25331875
2
FAM20B is monomeric kinase with unique active site recognizing Galβ1-4Xylβ1 disaccharide; structural characterization of Fam20 kinase family
PMID: 29572475
3
FAM20B gain-of-function decreases HS and CS-GAG synthesis dose-dependently; XYLP phosphatase rescues blockade; both gain and loss-of-function reduce GAG chains; FAM20B inhibits glioblastoma proliferation and migration
PMID: 40422215
4
FAM20B activates during TMJ development; Fam20b inactivation reduces GAG synthesis causing hypoplastic condylar cartilage, premature chondrocyte hypertrophy, and enhanced osteogenesis via altered IHH signaling
PMID: 40362273
5
FAM20B expression decreased in osteoarthritis and Kashin-Beck disease cartilage; associated with reduced chondroitin sulfate synthesis and cartilage damage
PMID: 32517548
6
FAM20B is atypical secretory pathway kinase phosphorylating xylose residues to trigger proteoglycan biosynthesis; role conserved from sponges to humans; loss-of-function causes skeletal defects and altered phosphate homeostasis
PMID: 33759783
Disease Associationsⓘ20
Alzheimer diseaseOpen Targets
0.36Weak
connective tissue diseaseOpen Targets
0.27Weak
AllergyOpen Targets
0.27Weak
knee fractureOpen Targets
0.27Weak
systemic lupus erythematosusOpen Targets
0.27Weak
ovarian dysfunctionOpen Targets
0.12Weak
Blount diseaseOpen Targets
0.07Suggestive
Absent tibia - polydactylyOpen Targets
0.07Suggestive
tibia, hypoplasia or aplasia of, with polydactylyOpen Targets
0.07Suggestive
Coxa VaraOpen Targets
0.07Suggestive
tibial hemimeliaOpen Targets
0.06Suggestive
Fibular aplasia - ectrodactylyOpen Targets
0.06Suggestive
fibular aplasia-ectrodactyly syndromeOpen Targets
0.06Suggestive
AcheiropodiaOpen Targets
0.06Suggestive
Hypoplastic tibiae - postaxial polydactylyOpen Targets
0.06Suggestive
metaphyseal anadysplasiaOpen Targets
0.06Suggestive
Acromesomelic dysplasia, Grebe typeOpen Targets
0.05Suggestive
Tibial aplasia - ectrodactylyOpen Targets
0.05Suggestive
Gollop-Wolfgang complexOpen Targets
0.05Suggestive
acromesomelic dysplasia 2BOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
B3GALT6Protein interaction81%XYLT1Protein interaction75%GASK1AProtein interaction71%EXTL2Protein interaction56%CANT1Shared pathway50%CSGALNACT2Shared pathway33%
Tissue Expression6 tissues
Heart
100%
Brain
85%
Ovary
46%
Lung
39%
Liver
29%
Bone Marrow
28%
Gene Interaction Network
Click a node to explore
FAM20BB3GALT6XYLT1GASK1AEXTL2CANT1CSGALNACT2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt O75063
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.75LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF0.50 [0.33–0.75]
RankingsWhere FAM20B stands among ~20K protein-coding genes
  • #10,321of 20,598
    Most Researched39
  • #5,971of 17,882
    Most Constrained (LOEUF)0.75
Genes detectedFAM20B
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Lack of association between PAX6/SOSTDC1/FAM20B gene polymorphisms and mesiodens.
PMID: 31133012
BMC Oral Health · 2019
1.00
2
FAM20B Gain-of-Function Blocks the Synthesis of Glycosaminoglycan Chains of Proteoglycans and Inhibits Proliferation and Migration of Glioblastoma Cells.
PMID: 40422215
Cells · 2025
0.90
3
Structure and evolution of the Fam20 kinases.
PMID: 29572475
Nat Commun · 2018
0.80
4
FAM20B-Catalyzed Glycosylation Regulates the Chondrogenic and Osteogenic Differentiation of the Embryonic Condyle by Controlling IHH Diffusion and Release.
PMID: 40362273
Int J Mol Sci · 2025
0.70
5
Altered Expression of Aggrecan, FAM20B, B3GALT6, and EXTL2 in Patients with Osteoarthritis and Kashin-Beck Disease.
PMID: 32517548
Cartilage · 2021
0.60