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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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EXTL3
exostosin like glycosyltransferase 3
Chromosome 8 Β· 8p21.1
NCBI Gene: 2137Ensembl: ENSG00000012232.11HGNC: HGNC:3518UniProt: A0A384NPY9
59PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
Receptor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
magnesium ion bindingglucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activityprotein bindingprotein-hormone receptor activityimmunoskeletal dysplasia with neurodevelopmental abnormalitiesSkeletal dysplasia - intellectual disabilityneurodegenerative diseasegenetic disorder
✦AI Summary

EXTL3 is a bifunctional glycosyltransferase with dual roles in cellular biology. As a glycosyltransferase, EXTL3 catalyzes heparan sulfate (HS) biosynthesis in the Golgi apparatus, functioning as both a chain initiator and elongator through alpha-1,4-N-acetylglucosaminyl transferase activity 1. The enzyme contains a multi-domain architecture with two glycosyltransferase domains and a coiled-coil domain, with critical N-glycosylation sites required for proper folding 2. Beyond glycosyltransferase function, EXTL3 acts as a receptor for regenerating islet-derived (REG) proteins, activating downstream signaling pathways including PI3K-AKT and RAS-RAF-MEK-ERK cascades. This REG-receptor function is essential for REG3A-mediated keratinocyte proliferation, skin inflammation inhibition via PI3K-AKT-STAT3 signaling, and glucose tolerance regulation in pancreatic tissue 3. EXTL3 also participates in baculovirus transduction through HS biosynthesis-dependent viral attachment and entry mechanisms 4. Clinically, biallelic EXTL3 mutations cause immunoskeletal dysplasia with neurodevelopmental abnormalities 3. Dysregulation occurs in mucinous colorectal cancer through promoter methylation-mediated silencing 5, and reduced EXTL3 expression correlates with worse prognosis in prostate cancer and altered immune checkpoint function 6. Gene silencing approaches show therapeutic potential for heparan sulfate-storing mucopolysaccharidoses 7.

Sources cited
1
EXTL3 encodes alpha-1,4-N-acetylglucosaminyl transferase activity involved in HS biosynthesis chain initiation and elongation
PMID: 11390981
2
EXTL3 has multi-domain structure with glycosyltransferase domains and critical N-glycosylation sites at Asn290 and Asn592
PMID: 29346724
3
EXTL3 functions as receptor for REG proteins activating PI3K-AKT and RAS-RAF-MEK-ERK pathways; mutations cause neuro-immuno-skeletal dysplasia syndrome
PMID: 32843889
4
EXTL3 participates in baculovirus transduction through heparan sulfate biosynthesis affecting viral attachment and entry
PMID: 39231976
5
EXTL3 promoter methylation silences EXTL3 expression and reduces HS levels in mucinous colorectal cancers
PMID: 18543267
6
Reduced EXTL3 expression in prostate cancer correlates with worse prognosis and altered immune checkpoint molecule expression
PMID: 35818069
7
EXTL3 gene silencing reduces heparan sulfate synthesis and lysosomal glycosaminoglycan accumulation in mucopolysaccharidosis fibroblasts
PMID: 19690583
Disease Associationsβ“˜21
immunoskeletal dysplasia with neurodevelopmental abnormalitiesOpen Targets
0.78Strong
Skeletal dysplasia - intellectual disabilityOpen Targets
0.55Moderate
neurodegenerative diseaseOpen Targets
0.27Weak
genetic disorderOpen Targets
0.19Weak
phototoxic dermatitisOpen Targets
0.13Weak
meningiomaOpen Targets
0.12Weak
familial meningiomaOpen Targets
0.12Weak
retinopathyOpen Targets
0.08Suggestive
cardiac transplantOpen Targets
0.08Suggestive
retinoschisisOpen Targets
0.08Suggestive
posterior cortical atrophyOpen Targets
0.07Suggestive
Isolated anophthalmia - microphthalmiaOpen Targets
0.06Suggestive
microphthalmiaOpen Targets
0.06Suggestive
endometriosisOpen Targets
0.05Suggestive
isolated microphthalmia 7Open Targets
0.05Suggestive
nanophthalmiaOpen Targets
0.05Suggestive
nanophthalmos 2Open Targets
0.05Suggestive
Microphthalmia - ankyloblepharon - intellectual disabilityOpen Targets
0.04Suggestive
ovarian neoplasmOpen Targets
0.04Suggestive
liver diseaseOpen Targets
0.04Suggestive
Immunoskeletal dysplasia with neurodevelopmental abnormalitiesUniProt
Pathogenic Variants2
NM_001440.4(EXTL3):c.953C>T (p.Pro318Leu)Pathogenic
Immunoskeletal dysplasia with neurodevelopmental abnormalities|not provided
β˜…β˜…β˜†β˜†2019β†’ Residue 318
NM_001440.4(EXTL3):c.472C>T (p.Arg158Ter)Likely pathogenic
Immunoskeletal dysplasia with neurodevelopmental abnormalities
β˜…β˜†β˜†β˜†2020β†’ Residue 158
View on ClinVar β†—
Related Genes
NDST1Protein interaction87%B3GAT3Protein interaction77%EXTL2Protein interaction75%XYLT2Protein interaction72%TRAP1Protein interaction72%SLC35B2Protein interaction70%
Tissue Expression6 tissues
Heart
100%
Brain
91%
Ovary
34%
Lung
32%
Liver
24%
Bone Marrow
9%
Gene Interaction Network
Click a node to explore
EXTL3NDST1B3GAT3EXTL2XYLT2TRAP1SLC35B2
PROTEIN STRUCTURE
Preparing viewer…
PDB8OG1 Β· 1.58 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.51Moderately Constrained
pLIβ“˜
0.93Intolerant
Observed/Expected LoF0.37 [0.27–0.51]
RankingsWhere EXTL3 stands among ~20K protein-coding genes
  • #7,769of 20,598
    Most Researched59
  • #4,409of 5,498
    Most Pathogenic Variants2
  • #3,117of 17,882
    Most Constrained (LOEUF)0.51 Β· top quartile
Genes detectedEXTL3
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Structural and Biophysical Characterization of Human EXTL3: Domain Organization, Glycosylation, and Solution Structure.
PMID: 29346724
Biochemistry Β· 2018
1.00
2
EXTL3 and NPC1 are mammalian host factors for Autographa californica multiple nucleopolyhedrovirus infection.
PMID: 39231976
Nat Commun Β· 2024
0.90
3
Specific functions of
PMID: 32843889
Cell Mol Biol Lett Β· 2020
0.80
4
Gene silencing of EXTL2 and EXTL3 as a substrate deprivation therapy for heparan sulphate storing mucopolysaccharidoses.
PMID: 19690583
Eur J Hum Genet Β· 2010
0.70
5
Human tumor suppressor EXT gene family members EXTL1 and EXTL3 encode alpha 1,4- N-acetylglucosaminyltransferases that likely are involved in heparan sulfate/ heparin biosynthesis.
PMID: 11390981
Proc Natl Acad Sci U S A Β· 2001
0.60