Gene
ext2
- ID
- ZDB-GENE-041124-3
- Name
- exostosin glycosyltransferase 2
- Symbol
- ext2 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Predicted to enable N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity and acetylglucosaminyltransferase activity. Acts upstream of or within several processes, including axon guidance; embryonic morphogenesis; and proteoglycan biosynthetic process. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in Golgi apparatus. Is expressed in nervous system and pectoral fin musculature. Used to study hereditary multiple exostoses. Orthologous to human EXT2 (exostosin glycosyltransferase 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Lee et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 62 figures from 21 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Allele | Type | Localization | Consequence | Mutagen | Supplier |
---|---|---|---|---|---|
sa34076 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa38611 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
tf205 | unknown | Unknown | Unknown | ENU | |
to79c | Allele with one point mutation | Unknown | Unknown | not specified | |
to273b | Allele with one MNV | Unknown | Unknown | ENU | |
tw25e | Allele with one point mutation | Unknown | Unknown | ENU |
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No data available
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
hereditary multiple exostoses | Alliance | Exostoses, multiple, type 2 | 133701 |
Seizures, scoliosis, and macrocephaly syndrome | 616682 |
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Human Disease | Fish | Conditions | Citations |
---|---|---|---|
hereditary multiple exostoses | ext2to273b/to273b | standard conditions | Wiweger et al., 2014 |
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Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Additional Resources | Length | Exostosin, GT47 domain | Exostosin-like | Glycosyl transferase 64 domain | Nucleotide-diphospho-sugar transferases |
---|---|---|---|---|---|---|
UniProtKB:Q5U7A7 | InterPro | 719 | ||||
UniProtKB:A0A8M1N3H0 | InterPro | 719 | ||||
UniProtKB:A0AB32TX90 | InterPro | 736 |
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Interactions and Pathways
No data available
Plasmids
No data available
Relationship | Marker Type | Marker | Accession Numbers | Citations |
---|---|---|---|---|
Contained in | BAC | CH211-107P11 | ZFIN Curated Data | |
Encodes | EST | fc14g07 |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:NM_001008400 (1) | 3443 nt | ||
Genomic | GenBank:BX510305 (1) | 156938 nt | ||
Polypeptide | UniProtKB:A0AB32TX90 (1) | 736 aa |
- Jones, A.A., Diamantopoulou, E., Baxendale, S., Whitfield, T.T. (2022) Presence of chondroitin sulphate and requirement for heparan sulphate biosynthesis in the developing zebrafish inner ear. Frontiers in cell and developmental biology. 10:959624
- Khalil, R., Lalai, R.A., Wiweger, M.I., Avramut, C.M., Koster, A.J., Spaink, H.P., Bruijn, J.A., Hogendoorn, P.C.W., Baelde, H.J. (2019) Glomerular permeability is not affected by heparan sulfate glycosaminoglycan deficiency in zebrafish embryos. American journal of physiology. Renal physiology. 317(5):F1211-F1216
- Di Donato, V., De Santis, F., Albadri, S., Auer, T.O., Duroure, K., Charpentier, M., Concordet, J.P., Gebhardt, C., Del Bene, F. (2018) An Attractive Reelin Gradient Establishes Synaptic Lamination in the Vertebrate Visual System. Neuron. 97(5):1049-1062.e6
- Bayés, À., Collins, M.O., Reig-Viader, R., Gou, G., Goulding, D., Izquierdo, A., Choudhary, J.S., Emes, R.D., Grant, S.G. (2017) Evolution of complexity in the zebrafish synapse proteome. Nature communications. 8:14613
- Volpi, S., Yamazaki, Y., Brauer, P.M., van Rooijen, E., Hayashida, A., Slavotinek, A., Sun Kuehn, H., Di Rocco, M., Rivolta, C., Bortolomai, I., Du, L., Felgentreff, K., Ott de Bruin, L., Hayashida, K., Freedman, G., Marcovecchio, G.E., Capuder, K., Rath, P., Luche, N., Hagedorn, E.J., Buoncompagni, A., Royer-Bertrand, B., Giliani, S., Poliani, P.L., Imberti, L., Dobbs, K., Poulain, F.E., Martini, A., Manis, J., Linhardt, R.J., Bosticardo, M., Rosenzweig, S.D., Lee, H., Puck, J.M., Zúñiga-Pflücker, J.C., Zon, L., Park, P.W., Superti-Furga, A., Notarangelo, L.D. (2017) EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay.. The Journal of experimental medicine. 214(3):623-637
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
- Venero Galanternik, M., Kramer, K.L., Piotrowski, T. (2015) Heparan Sulfate Proteoglycans Regulate Fgf Signaling and Cell Polarity during Collective Cell Migration. Cell Reports. 10(30):414-428
- Desvignes, T., Contreras, A., Postlethwait, J.H. (2014) Evolution of the miR199-214 cluster and vertebrate skeletal development. RNA Biology. 11(4):281-94
- Wiweger, M.I., de Andrea, C.E., Scheepstra, K.W., Zhao, Z., Hogendoorn, P.C. (2014) Possible effects of EXT2 on mesenchymal differentiation--lessons from the zebrafish. Orphanet journal of rare diseases. 9:35
- Poulain, F.E., and Chien, C.B. (2013) Proteoglycan-mediated axon degeneration corrects pretarget topographic sorting errors. Neuron. 78(1):49-56
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