Gene
pomt2
- ID
- ZDB-GENE-070112-1002
- Name
- protein-O-mannosyltransferase 2
- Symbol
- pomt2 Nomenclature History
- Previous Names
-
- im:7153045
- zgc:158749
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Enables dolichyl-phosphate-mannose-protein mannosyltransferase activity. Acts upstream of or within photoreceptor cell maintenance and protein O-linked mannosylation. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in endoplasmic reticulum. Is expressed in several structures, including brain; fin bud; liver; muscle; and pleuroperitoneal region. Human ortholog(s) of this gene implicated in lissencephaly and muscular dystrophy (multiple). Orthologous to human POMT2 (protein O-mannosyltransferase 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7153045 (1 image)
Wild Type Expression Summary
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| hu3612 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| la013114Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| la020084Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa69 | Allele with one point mutation | Unknown | Unknown | ENU | |
| zf3886 | Allele with multiple variants | Unknown | Unknown | CRISPR |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-pomt2 | Liu et al., 2022 | |
| CRISPR2-pomt2 | Liu et al., 2022 | |
| MO1-pomt2 | N/A | Avsar-Ban et al., 2010 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal recessive limb-girdle muscular dystrophy type 2N | Alliance | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 | 613158 |
| congenital muscular dystrophy-dystroglycanopathy type A2 | Alliance | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 | 613150 |
| muscular dystrophy-dystroglycanopathy type B2 | Alliance | Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 2 | 613156 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Glycosyltransferase 39-like | Glycosyl transferase family 39/83 | Mir domain superfamily | MIR motif | Protein O-mannosyl-transferase, C-terminal four TM domain |
|---|---|---|---|---|---|---|
|
UniProtKB:F1Q8R9
|
756 |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-173E20 | ZFIN Curated Data | |
| Encodes | EST | IMAGE:7153045 | Thisse et al., 2004 | |
| Encodes | cDNA | MGC:158749 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:191761 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001045033 (1) | 2491 nt | ||
| Genomic | GenBank:BX950192 (2) | 135523 nt | ||
| Polypeptide | UniProtKB:F1Q8R9 (1) | 756 aa |
- Karas, B.F., Terez, K.R., Mowla, S., Battula, N., Flannery, K.P., Gural, B.M., Aboussleman, G., Mubin, N., Manzini, M.C. (2024) Removal of pomt1 in zebrafish leads to loss of α-dystroglycan glycosylation and dystroglycanopathy phenotypes. Human molecular genetics. 33(8):709-723
- Liu, Y., Rittershaus, J.M., Yu, M., Sager, R., Hu, H. (2022) Deletion of POMT2 in Zebrafish Causes Degeneration of Photoreceptors. International Journal of Molecular Sciences. 23(23):
- Newman, M., Hin, N., Pederson, S., Lardelli, M. (2019) Brain transcriptome analysis of a familial Alzheimer's disease-like mutation in the zebrafish presenilin 1 gene implies effects on energy production. Molecular brain. 12:43
- Serafini, P.R., Feyder, M.J., Hightower, R.M., Garcia-Perez, D., Vieira, N.M., Lek, A., Gibbs, D.E., Moukha-Chafiq, O., Augelli-Szafran, C.E., Kawahara, G., Widrick, J.J., Kunkel, L.M., Alexander, M.S. (2018) A limb-girdle muscular dystrophy 2I model of muscular dystrophy identifies corrective drug compounds for dystroglycanopathies. JCI insight. 3(18):
- 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
- Varshney, G.K., Lu, J., Gildea, D., Huang, H., Pei, W., Yang, Z., Huang, S.C., Schoenfeld, D.S., Pho, N., Casero, D., Hirase, T., Mosbrook-Davis, D.M., Zhang, S., Jao, L.E., Zhang, B., Woods, I.G., Zimmerman, S., Schier, A.F., Wolfsberg, T., Pellegrini, M., Burgess, S.M., and Lin, S. (2013) A large-scale zebrafish gene knockout resource for the genome-wide study of gene function. Genome research. 23(4):727-735
- Avsar-Ban, E., Ishikawa, H., Manya, H., Watanabe, M., Akiyama, S., Miyake, H., Endo, T., and Tamaru, Y. (2010) Protein O-mannosylation is necessary for normal embryonic development in zebrafish. Glycobiology. 20(9):1089-1102
- Moore, C.J., Goh, H.T., and Hewitt, J.E. (2008) Genes required for functional glycosylation of dystroglycan are conserved in zebrafish. Genomics. 92(3):159-167
- Wang, D., Jao, L.E., Zheng, N., Dolan, K., Ivey, J., Zonies, S., Wu, X., Wu, K., Yang, H., Meng, Q., Zhu, Z., Zhang, B., Lin, S., and Burgess, S.M. (2007) Efficient genome-wide mutagenesis of zebrafish genes by retroviral insertions. Proceedings of the National Academy of Sciences of the United States of America. 104(30):12428-12433
- Strausberg,R.L., Feingold,E.A., Grouse,L.H., Derge,J.G., Klausner,R.D., Collins,F.S., Wagner,L., Shenmen,C.M., Schuler,G.D., Altschul,S.F., Zeeberg,B., Buetow,K.H., Schaefer,C.F., Bhat,N.K., Hopkins,R.F., Jordan,H., Moore,T., Max,S.I., Wang,J., Hsieh,F., Diatchenko,L., Marusina,K., Farmer,A.A., Rubin,G.M., Hong,L., Stapleton,M., Soares,M.B., Bonaldo,M.F., Casavant,T.L., Scheetz,T.E., Brownstein,M.J., Usdin,T.B., Toshiyuki,S., Carninci,P., Prange,C., Raha,S.S., Loquellano,N.A., Peters,G.J., Abramson,R.D., Mullahy,S.J., Bosak,S.A., McEwan,P.J., McKernan,K.J., Malek,J.A., Gunaratne,P.H., Richards,S., Worley,K.C., Hale,S., Garcia,A.M., Gay,L.J., Hulyk,S.W., Villalon,D.K., Muzny,D.M., Sodergren,E.J., Lu,X., Gibbs,R.A., Fahey,J., Helton,E., Ketteman,M., Madan,A., Rodrigues,S., Sanchez,A., Whiting,M., Madan,A., Young,A.C., Shevchenko,Y., Bouffard,G.G., Blakesley,R.W., Touchman,J.W., Green,E.D., Dickson,M.C., Rodriguez,A.C., Grimwood,J., Schmutz,J., Myers,R.M., Butterfield,Y.S., Krzywinski,M.I., Skalska,U., Smailus,D.E., Schnerch,A., Schein,J.E., Jones,S.J., and Marra,M.A. (2002) Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proceedings of the National Academy of Sciences of the United States of America. 99(26):16899-903
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