XYLT2
Xylosyltransferase 2
Also known as: PXYLT2, XT-II, XYLT2_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9H1B5
- Gene
- XYLT2
- Ensembl
- ENSG00000015532
- Chromosome
- 17
- Canonical length
- 865 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Predicted secreted proteins
- Secretome location
- Secreted to blood
OverviewNCBI Gene
The protein encoded by this gene is an isoform of xylosyltransferase, which belongs to a family of glycosyltransferases. This enzyme transfers xylose from UDP-xylose to specific serine residues of the core protein and initiates the biosynthesis of glycosaminoglycan chains in proteoglycans including chondroitin sulfate, heparan sulfate, heparin and dermatan sulfate. The enzyme activity, which is increased in scleroderma patients, is a diagnostic marker for the determination of sclerotic activity in systemic sclerosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]
Canonical amino-acid sequenceUniProt
865 residues, UniProt reviewed canonical sequence.
>Q9H1B5|XYLT2
1 MVASARVQKL VRRYKLAIAT ALAILLLQGL VVWSFSGLEE DEAGEKGRQR KPRPLDPGEG
61 SKDTDSSAGR RGSTGRRHGR WRGRAESPGV PVAKVVRAVT SRQRASRRVP PAPPPEAPGR
121 QNLSGAAAGE ALVGAAGFPP HGDTGSVEGA PQPTDNGFTP KCEIVGKDAL SALARASTKQ
181 CQQEIANVVC LHQAGSLMPK AVPRHCQLTG KMSPGIQWDE SQAQQPMDGP PVRIAYMLVV
241 HGRAIRQLKR LLKAVYHEQH FFYIHVDKRS DYLHREVVEL AQGYDNVRVT PWRMVTIWGG
301 ASLLRMYLRS MRDLLEVPGW AWDFFINLSA TDYPTRTNEE LVAFLSKNRD KNFLKSHGRD
361 NSRFIKKQGL DRLFHECDSH MWRLGERQIP AGIVVDGGSD WFVLTRSFVE YVVYTDDPLV
421 AQLRQFYTYT LLPAESFFHT VLENSLACET LVDNNLRVTN WNRKLGCKCQ YKHIVDWCGC
481 SPNDFKPQDF LRLQQVSRPT FFARKFESTV NQEVLEILDF HLYGSYPPGT PALKAYWENT
541 YDAADGPSGL SDVMLTAYTA FARLSLHHAA TAAPPMGTPL CRFEPRGLPS SVHLYFYDDH
601 FQGYLVTQAV QPSAQGPAET LEMWLMPQGS LKLLGRSDQA SRLQSLEVGT DWDPKERLFR
661 NFGGLLGPLD EPVAVQRWAR GPNLTATVVW IDPTYVVATS YDITVDTETE VTQYKPPLSR
721 PLRPGPWTVR LLQFWEPLGE TRFLVLPLTF NRKLPLRKDD ASWLHAGPPH NEYMEQSFQG
781 LSSILNLPQP ELAEEAAQRH TQLTGPALEA WTDRELSSFW SVAGLCAIGP SPCPSLEPCR
841 LTSWSSLSPD PKSELGPVKA DGRLRLocalizationUniProt · AlphaFold · HPA
Whether an antibody against XYLT2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Secreted
- Secreted
- Yes
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.31
- Highest tissue expression
- 85 nTPM
Expression across tissuesHPA
Tissue
- stomach: 85 nTPM
- skin: 15 nTPM
- prostate: 13 nTPM
- ovary: 13 nTPM
- urinary bladder: 12 nTPM
- pancreas: 12 nTPM
Single-cell type
- early spermatids: 395 nCPM
- gastric chief cells: 159 nCPM
- late spermatids: 121 nCPM
- mucous neck cells: 106 nCPM
- late primary spermatocytes: 104 nCPM
- parietal cells: 57 nCPM
Immune cell
- basophil: 3.7 nTPM
- memory CD8 T-cell: 3.6 nTPM
- NK-cell: 3.6 nTPM
- total PBMC: 2.8 nTPM
- gdT-cell: 2.7 nTPM
- MAIT T-cell: 2.7 nTPM
Brain region
- cerebral cortex: 35 nTPM
- choroid plexus: 34 nTPM
- cerebellum: 32 nTPM
- thalamus: 30 nTPM
- midbrain: 28 nTPM
- hippocampal formation: 27 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about XYLT2.
Disease | AllUniProt
Conditions XYLT2 is implicated in, by any mechanism.
- Spondyloocular syndrome (SOS) MIM:605822
- Pseudoxanthoma elasticum (PXE) MIM:264800
Disease | GeneticClinVar
15 pathogenic / likely-pathogenic of 492 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Spondylo-ocular syndrome
- Inborn genetic diseases
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.34
- gnomAD pLI
- 0.93
- gnomAD missense Z
- 2.09
- DepMap mean gene effect
- -0.29
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- chondroitin sulfate proteoglycan biosynthetic process
- glycosaminoglycan biosynthetic process
- glycosaminoglycan-protein linkage region biosynthetic process
- heparan sulfate proteoglycan biosynthetic process
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of XYLT2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads XYLT2 as an antibody target. Whether an autoantibody or antibody against XYLT2 could matter depends on whether native XYLT2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
XYLT2 is annotated as secreted, so native XYLT2 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.
Annotation status
The present source text does not explicitly label XYLT2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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