Gene
pomgnt2
- ID
- ZDB-GENE-050522-242
- Name
- protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
- Symbol
- pomgnt2 Nomenclature History
- Previous Names
-
- gtdc2
- im:7153239
- zgc:112079
- Type
- protein_coding_gene
- Location
- Chr: 16 Mapping Details/Browsers
- Description
- Predicted to enable protein O-acetylglucosaminyltransferase activity. Acts upstream of or within brain development; muscle cell development; and retina development in camera-type eye. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in endoplasmic reticulum. Is expressed in basal plate midbrain region; heart; nervous system; and somite. Human ortholog(s) of this gene implicated in congenital muscular dystrophy-dystroglycanopathy type A8 and muscular dystrophy-dystroglycanopathy type C8. Orthologous to human POMGNT2 (protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 8 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7153239 (10 images)
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Manzini et al., 2012
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| MO1-pomgnt2 | N/A | Manzini et al., 2012 |
| MO2-pomgnt2 | N/A | Manzini et al., 2012 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| congenital muscular dystrophy-dystroglycanopathy type A8 | Alliance | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8 | 614830 |
| muscular dystrophy-dystroglycanopathy type C8 | Alliance | Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 | 618135 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Fibronectin type III | Fibronectin type III superfamily | Glycosyltransferase 61 | Glycosyltransferase 61, catalytic domain | Immunoglobulin-like fold |
|---|---|---|---|---|---|---|---|
| UniProtKB:Q5NDE5 | InterPro | 578 | |||||
| UniProtKB:F1QAS8 | InterPro | 585 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
pomgnt2-201
(1)
|
Ensembl | 2,617 nt | ||
| mRNA |
pomgnt2-202
(1)
|
Ensembl | 2,089 nt |
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-281M7 | ||
| Encodes | EST | IMAGE:7153239 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:112079 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001012384 (1) | 2617 nt | ||
| Genomic | GenBank:CR627484 (1) | 152450 nt | ||
| Polypeptide | UniProtKB:F1QAS8 (1) | 585 aa |
- 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):
- 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
- 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
- Manzini, M.C., Tambunan, D.E., Hill, R.S., Yu, T.W., Maynard, T.M., Heinzen, E.L., Shianna, K.V., Stevens, C.R., Partlow, J.N., Barry, B.J., Rodriguez, J., Gupta, V.A., Al-Qudah, A.K., Eyaid, W.M., Friedman, J.M., Salih, M.A., Clark, R., Moroni, I., Mora, M., Beggs, A.H., Gabriel, S.B., and Walsh, C.A. (2012) Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome. American journal of human genetics. 91(3):541-547
- 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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