exostosin like glycosyltransferase 3

Summary
Gene Symbol
  • EXTL3
Aliases
  • REG receptor
  • REGR
  • botv
  • glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase
Organism
Homo sapiens (human)
External Links
NCBI Gene
2137
GGDB ID
HGNC
3518
mRNA
map
  • 8p21
Protein
OMIM
KEGG Gene ID
hsa:2137
PubChem
2137
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Cell membrane
  • Coiled coil
  • Disease variant
  • Disulfide bond
  • Dwarfism
  • Endoplasmic reticulum
  • Glycoprotein
  • Glycosyltransferase
  • Golgi apparatus
  • Intellectual disability
  • Manganese
  • Metal-binding
  • Nucleus
  • Phosphoprotein
  • Reference proteome
  • Signal-anchor
  • Transferase
  • Transmembrane helix
Proteins
Displaying all 2 entries
UniProt Protein Name
A0A384NPY9
O43909
  • EXT-related protein 1
  • Glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase
  • Hereditary multiple exostoses gene isolog
  • Multiple exostosis-like protein 3
  • Putative tumor suppressor protein EXTL3
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000012232

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

GlycoGene Database (GGDB)
GGDB ID
gg162
Gene Symbol
  • EXTL3
Reactions
Displaying 1 entry
Donor Acceptor Product Reference
UDP-GlcNAc
G99041PQ
Displaying all 2 entries
Donor Acceptor Product Reference
UDP-GlcNAc
G14371GV
UDP-GlcUA
G87877ES
Orthologous Gene
KEGG BRITE Database
Orthology
K02370
Name
alpha-1,4-N-acetylglucosaminyltransferase EXTL3 [EC:2.4.1.223 2.4.1.224]
References
Reactions
Displaying all 2 entries
KEGG Reaction Enzyme Acceptor Product
R05930
R05936
Disease
Disease Ontology
Displaying entries 1 - 10 of 68 in total
DO ID Disease Name Source
DOID:0040085 bacterial sepsis
DOID:0060249 scoliosis
DOID:0080199 colorectal carcinoma
DOID:0110938 autosomal dominant osteopetrosis 2
DOID:0110946 autosomal recessive osteopetrosis 7
DOID:0111393 mucopolysaccharidosis type IIIC
DOID:0111395 mucopolysaccharidosis type IIIA
DOID:1059 intellectual disability
DOID:1115 sarcoma
DOID:11934 head and neck cancer
The Human Phenotype Ontology
Displaying entries 1 - 10 of 114 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000085 Horseshoe kidney
HP:0000160 Narrow mouth
HP:0000194 Open mouth
HP:0000212 Gingival overgrowth
HP:0000252 Microcephaly
HP:0000253 Progressive microcephaly
HP:0000276 Long face
HP:0000280 Coarse facial features
HP:0000293 Full cheeks
Displaying all 2 entries
Disease ID Disease Name
OMIM:617425
  • immunoskeletal dysplasia with neurodevelopmental abnormalities
ORPHA:508533
  • skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome

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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024