xylosyltransferase 2

Summary
Gene Symbol
  • XYLT2
Aliases
  • PXYLT2
  • XT-II
  • protein xylosyltransferase 2
Organism
Homo sapiens (human)
External Links
NCBI Gene
64132
GGDB ID
HGNC
15517
mRNA
map
  • 17q21.3-17q22
Protein
OMIM
KEGG Gene ID
hsa:64132
PubChem
64132
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Disease variant
  • Disulfide bond
  • Glycoprotein
  • Glycosyltransferase
  • Golgi apparatus
  • Magnesium
  • Manganese
  • Membrane
  • Metal-binding
  • Proteomics identification
  • Reference proteome
  • Secreted
  • Signal-anchor
  • Transmembrane helix
Proteins
Displaying all 2 entries
UniProt Protein Name
Q9H1B5
  • Peptide O-xylosyltransferase 1
  • Xylosyltransferase II
B4DT06
  • Xylosyltransferase II
Gene Ontology (GO)
GO Hierarchy
GlycoGene Database (GGDB)
GGDB ID
gg170
Gene Symbol
  • XYLT2
Orthologous Gene
KEGG BRITE Database
Orthology
K00771
Name
protein xylosyltransferase [EC:2.4.2.26]
References
Disease
Disease Ontology
Displaying entries 131 - 140 of 179 in total
DO ID Disease Name Source
DOID:2921 glomerulonephritis
DOID:2962 Cockayne syndrome
DOID:3165 skin benign neoplasm
DOID:3369 Ewing sarcoma
DOID:3490 Noonan syndrome
DOID:3523 brain stem infarction
DOID:3526 cerebral infarction
DOID:3669 intermittent claudication
DOID:397 restrictive cardiomyopathy
DOID:4007 bladder carcinoma
The Human Phenotype Ontology
Displaying entries 11 - 20 of 76 in total
HPO ID HPO Term
HP:0000465 Webbed neck
HP:0000470 Short neck
HP:0000505 Visual impairment
HP:0000518 Cataract
HP:0000534 Abnormal eyebrow morphology
HP:0000541 Retinal detachment
HP:0000545 Myopia
HP:0000568 Microphthalmia
HP:0000572 Visual loss
HP:0000573 Retinal hemorrhage
Displaying all 3 entries
Disease ID Disease Name
ORPHA:85194
  • spondylo-ocular syndrome
OMIM:605822
  • spondylo-ocular syndrome
OMIM:264800
  • autosomal recessive inherited pseudoxanthoma elasticum

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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