Gene
pmm2
- ID
- ZDB-GENE-030722-6
- Name
- phosphomannomutase 2
- Symbol
- pmm2 Nomenclature History
- Previous Names
-
- cb626 (1)
- it768
- unm_it768
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Predicted to enable phosphomannomutase activity. Acts upstream of or within several processes, including protein N-linked glycosylation; protein processing; and skeletal system development. Predicted to be located in cytoplasm. Predicted to be active in cytosol. Is expressed in several structures, including axis; digestive system; hatching gland; periderm; and polster. Used to study congenital disorder of glycosylation type I. Human ortholog(s) of this gene implicated in congenital disorder of glycosylation and congenital disorder of glycosylation Ia. Orthologous to human PMM2 (phosphomannomutase 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 12 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb626 (21 images)
- IMAGE:7142433 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 17 figures from 3 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| it768 | Allele with one point mutation | Intron 5 | Splice Site | ENU | |
| sa10150 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa18686 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa19432 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| zko200a | Allele with one deletion | Unknown | Unknown | CRISPR | |
| zko200b | Allele with one deletion | Unknown | Unknown | CRISPR |
1 - 6 of 6
Show
| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-pmm2 | Sun et al., 2019 | |
| MO1-pmm2 | N/A | Cline et al., 2012 |
| MO2-pmm2 | N/A | Cline et al., 2012 |
| MO3-pmm2 | N/A | Mukaigasa et al., 2018 |
1 - 4 of 4
Show
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| congenital disorder of glycosylation Ia | Alliance | Congenital disorder of glycosylation, type Ia | 212065 |
1 - 1 of 1
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| congenital disorder of glycosylation type I | WT + MO2-pmm2 | standard conditions | Cline et al., 2012 |
1 - 1 of 1
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | HAD-like superfamily | HAD superfamily | HAD-superfamily hydrolase, subfamily IIB | Phosphomannomutase | Phosphomannomutase, cap domain |
|---|---|---|---|---|---|---|---|
| UniProtKB:Q7ZTZ3 | InterPro | 250 |
1 - 1 of 1
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-54F10 | ZFIN Curated Data | |
| Contains | STS | chunp30367 | ||
| Encodes | EST | cb626 | Thisse et al., 2001 | |
| Encodes | EST | IMAGE:7142433 | Thisse et al., 2004 | |
| Encodes | cDNA | MGC:56149 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:192286 | ZFIN Curated Data |
1 - 6 of 6
Show
| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_200084 (1) | 1259 nt | ||
| Genomic | GenBank:BX927386 (2) | 80968 nt | ||
| Polypeptide | UniProtKB:Q7ZTZ3 (1) | 250 aa |
- Matheny-Rabun, C., Mokashi, S.S., Radenkovic, S., Wiggins, K., Dukes-Rimsky, L., Angel, P., Ghesquiere, B., Kozicz, T., Steet, R., Morava, E., Flanagan-Steet, H. (2024) O-GlcNAcylation modulates expression and abundance of N-glycosylation machinery in an inherited glycosylation disorder. Cell Reports. 43:114976114976
- Radenkovic, S., Ligezka, A.N., Mokashi, S.S., Driesen, K., Dukes-Rimsky, L., Preston, G., Owuocha, L.F., Sabbagh, L., Mousa, J., Lam, C., Edmondson, A., Larson, A., Schultz, M., Vermeersch, P., Cassiman, D., Witters, P., Beamer, L.J., Kozicz, T., Flanagan-Steet, H., Ghesquière, B., Morava, E. (2023) Tracer metabolomics reveals the role of aldose reductase in glycosylation. Cell reports. Medicine. 4(6):101056
- Klaver, E.J., Dukes-Rimsky, L., Kumar, B., Xia, Z.J., Dang, T., Lehrman, M.A., Angel, P., Drake, R.R., Freeze, H.H., Steet, R., Flanagan-Steet, H. (2021) Protease-dependent defects in N-cadherin processing drive PMM2-CDG pathogenesis. JCI insight. 6(24):
- Sun, Y., Zhang, B., Luo, L., Shi, D.L., Wang, H., Cui, Z., Huang, H., Cao, Y., Shu, X., Zhang, W., Zhou, J., Li, Y., Du, J., Zhao, Q., Chen, J., Zhong, H., Zhong, T.P., Li, L., Xiong, J.W., Peng, J., Xiao, W., Zhang, J., Yao, J., Yin, Z., Mo, X., Peng, G., Zhu, J., Chen, Y., Zhou, Y., Liu, D., Pan, W., Zhang, Y., Ruan, H., Liu, F., Zhu, Z., Meng, A., ZAKOC Consortium (2019) Systematic genome editing of the genes on zebrafish Chromosome 1 by CRISPR/Cas9. Genome research. 30(1):118-26
- Mukaigasa, K., Tsujita, T., Nguyen, V.T., Li, L., Yagi, H., Fuse, Y., Nakajima-Takagi, Y., Kato, K., Yamamoto, M., Kobayashi, M. (2018) Nrf2 activation attenuates genetic endoplasmic reticulum stress induced by a mutation in the phosphomannomutase 2 gene in zebrafish. Proceedings of the National Academy of Sciences of the United States of America. 115(11):2758-2763
- DeRossi, C., Vacaru, A., Rafiq, R., Cinaroglu, A., Imrie, D., Nayar, S., Baryshnikova, A., Milev, M.P., Stanga, D., Kadakia, D., Gao, N., Chu, J., Freeze, H.H., Lehrman, M.A., Sacher, M., Sadler, K.C. (2016) trappc11 is required for protein glycosylation in zebrafish and humans. Molecular biology of the cell. 27(8):1220-34
- 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
- Briolat, V., Jouneau, L., Carvalho, R., Palha, N., Langevin, C., Herbomel, P., Schwartz, O., Spaink, H.P., Levraud, J.P., Boudinot, P. (2014) Contrasted Innate Responses to Two Viruses in Zebrafish: Insights into the Ancestral Repertoire of Vertebrate IFN-Stimulated Genes. Journal of immunology (Baltimore, Md. : 1950). 192:4328-41
- Desvignes, T., Contreras, A., Postlethwait, J.H. (2014) Evolution of the miR199-214 cluster and vertebrate skeletal development. RNA Biology. 11(4):281-94
- Cline, A., Gao, N., Flanagan-Steet, H., Sharma, V., Rosa, S., Sonon, R., Azadi, P., Sadler, K.C., Freeze, H.H., Lehrman, M.A., and Steet, R. (2012) A Zebrafish Model Of PMM2-CDG Reveals Altered Neurogenesis And A Substrate-Accumulation Mechanism For N-Linked Glycosylation Deficiency. Molecular biology of the cell. 23(21):4175-4187
1 - 10 of 13
Show