Protein-coding gene in the species Homo sapiens
| XYLT2 |
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| Identifiers |
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| Aliases | XYLT2, PXT-II, XT2, xylT-II, SOS, xylosyltransferase 2 |
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| External IDs | OMIM: 608125; MGI: 2444797; HomoloGene: 23349; GeneCards: XYLT2; OMA:XYLT2 - orthologs |
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| Gene location (Human) |
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 | | Chr. | Chromosome 17 (human)[1] |
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| | Band | 17q21.33 | Start | 50,346,126 bp[1] |
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| End | 50,363,138 bp[1] |
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| Gene location (Mouse) |
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 | | Chr. | Chromosome 11 (mouse)[2] |
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| | Band | 11|11 D | Start | 94,554,677 bp[2] |
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| End | 94,568,341 bp[2] |
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| RNA expression pattern |
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| Bgee | | Human | Mouse (ortholog) |
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| Top expressed in | - body of stomach
- fundus
- stromal cell of endometrium
- left testis
- apex of heart
- right testis
- right uterine tube
- right ovary
- granulocyte
- prostate
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| | Top expressed in | - right kidney
- lip
- tail of embryo
- primary visual cortex
- neural layer of retina
- ventricular zone
- superior frontal gyrus
- dentate gyrus of hippocampal formation granule cell
- stroma of bone marrow
- genital tubercle
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| | More reference expression data |
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| BioGPS |  | | More reference expression data |
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| Gene ontology |
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| Molecular function | - transferase activity
- acetylglucosaminyltransferase activity
- glycosyltransferase activity
- protein xylosyltransferase activity
- magnesium ion binding
- manganese ion binding
- metal ion binding
| | Cellular component | - integral component of membrane
- Golgi apparatus
- endoplasmic reticulum membrane
- endoplasmic reticulum
- membrane
- Golgi membrane
- cellular component
- extracellular space
- extracellular region
| | Biological process | - chondroitin sulfate biosynthetic process
- chondroitin sulfate proteoglycan biosynthetic process
- heparan sulfate proteoglycan biosynthetic process
- heparin biosynthetic process
- glycosaminoglycan biosynthetic process
- proteoglycan biosynthetic process
- glycosaminoglycan metabolic process
| | Sources:Amigo / QuickGO |
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| Orthologs |
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| Species | Human | Mouse |
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| Entrez | | |
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| Ensembl | | |
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| UniProt | | |
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| RefSeq (mRNA) | | |
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| RefSeq (protein) | | |
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| Location (UCSC) | Chr 17: 50.35 – 50.36 Mb | Chr 11: 94.55 – 94.57 Mb |
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| PubMed search | [3] | [4] |
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| Wikidata |
| View/Edit Human | View/Edit Mouse |
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Xylosyltransferase 2 is an enzyme that in humans is encoded by the XYLT2 gene.[5][6]
Function
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.[6]
Clinical significance
The enzyme activity, which is increased in scleroderma patients, is a diagnostic marker for the determination of sclerotic activity in systemic sclerosis.[6]
Mutations in this gene have been shown to be the cause of the spondylo-ocular syndrome.[7] It has also been implicated as cofactor in pseudoxanthoma elasticum.
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000015532 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000020868 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Götting C, Kuhn J, Zahn R, Brinkmann T, Kleesiek K (Dec 2000). "Molecular cloning and expression of human UDP-d-Xylose:proteoglycan core protein beta-d-xylosyltransferase and its first isoform XT-II". Journal of Molecular Biology. 304 (4): 517–28. doi:10.1006/jmbi.2000.4261. PMID 11099377.
- ^ a b c "Entrez Gene: XYLT2 xylosyltransferase II".
- ^ Taylan F, Costantini A, Coles N, Pekkinen M, Héon E, Şıklar Z, Berberoğlu M, Kämpe A, Kıykım E, Grigelioniene G, Tüysüz B, Mäkitie O (Mar 2016). "Spondyloocular Syndrome - Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum". Journal of Bone and Mineral Research. 31 (8): 1577–1585. doi:10.1002/jbmr.2834. PMID 26987875.
Further reading
- Götting C, Kuhn J, Brinkmann T, Kleesiek K (Apr 1998). "Xylosylation of alternatively spliced isoforms of Alzheimer APP by xylosyltransferase". Journal of Protein Chemistry. 17 (3): 295–302. doi:10.1023/A:1022549121672. PMID 9588955. S2CID 39212266.
- Götting C, Sollberg S, Kuhn J, Weilke C, Huerkamp C, Brinkmann T, Krieg T, Kleesiek K (Jun 1999). "Serum xylosyltransferase: a new biochemical marker of the sclerotic process in systemic sclerosis". The Journal of Investigative Dermatology. 112 (6): 919–24. doi:10.1046/j.1523-1747.1999.00590.x. PMID 10383739.
- Kuhn J, Götting C, Schnölzer M, Kempf T, Brinkmann T, Kleesiek K (Feb 2001). "First isolation of human UDP-D-xylose: proteoglycan core protein beta-D-xylosyltransferase secreted from cultured JAR choriocarcinoma cells". The Journal of Biological Chemistry. 276 (7): 4940–7. doi:10.1074/jbc.M005111200. PMID 11087729.
- Götting C, Kuhn J, Brinkmann T, Kleesiek K (Mar 2002). "Xylosyltransferase activity in seminal plasma of infertile men". Clinica Chimica Acta; International Journal of Clinical Chemistry. 317 (1–2): 199–202. doi:10.1016/S0009-8981(01)00793-8. PMID 11814476.
- Schön S, Prante C, Müller S, Schöttler M, Tarnow L, Kuhn J, Kleesiek K, Götting C (Oct 2005). "Impact of polymorphisms in the genes encoding xylosyltransferase I and a homologue in type 1 diabetic patients with and without nephropathy". Kidney International. 68 (4): 1483–90. doi:10.1111/j.1523-1755.2005.00561.x. PMID 16164625.
- Schön S, Prante C, Bahr C, Kuhn J, Kleesiek K, Götting C (May 2006). "Cloning and recombinant expression of active full-length xylosyltransferase I (XT-I) and characterization of subcellular localization of XT-I and XT-II". The Journal of Biological Chemistry. 281 (20): 14224–31. doi:10.1074/jbc.M510690200. PMID 16569644.
- Voglmeir J, Voglauer R, Wilson IB (Mar 2007). "XT-II, the second isoform of human peptide-O-xylosyltransferase, displays enzymatic activity". The Journal of Biological Chemistry. 282 (9): 5984–90. doi:10.1074/jbc.M608087200. PMC 2850172. PMID 17194707.
2.4.1: Hexosyl-
transferases | |
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2.4.2: Pentosyl-
transferases | |
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2.4.99: Sialyl
transferases | |
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