Gene
uba2
- ID
- ZDB-GENE-040426-2681
- Name
- ubiquitin-like modifier activating enzyme 2
- Symbol
- uba2 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 25 Mapping Details/Browsers
- Description
- Predicted to enable SUMO activating enzyme activity. Acts upstream of or within several processes, including fin morphogenesis; regulation of cartilage development; and regulation of neural retina development. Predicted to be located in nucleus. Predicted to be part of SUMO activating enzyme complex. Predicted to be active in cytoplasm. Is expressed in forebrain neural rod; head; nervous system; pectoral fin bud; and somite. Orthologous to human UBA2 (ubiquitin like modifier activating enzyme 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:66354 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 3 figures from Schnur et al., 2021
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| la014652Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| la023134Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| nni101 | Allele with one deletion | Exon 1 | Unknown | CRISPR | |
| nni102 | Allele with one insertion | Exon 1 | Unknown | CRISPR | |
| sa12884 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa15421 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa24623 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa44250 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-uba2 | Schnur et al., 2021 | |
| CRISPR2-uba2 | Schnur et al., 2021 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| ACCES syndrome | 619959 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Active_site | IPR033127 | Ubiquitin-activating enzyme E1, Cys active site |
| Domain | IPR000594 | THIF-type NAD/FAD binding fold |
| Domain | IPR028077 | Ubiquitin/SUMO-activating enzyme ubiquitin-like domain |
| Domain | IPR032426 | SUMO-activating enzyme subunit 2, C-terminal domain |
| Family | IPR030661 | SUMO-activating enzyme subunit Uba2 |
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Domain Details Per Protein
| Protein | Additional Resources | Length | SUMO-activating enzyme subunit 2, C-terminal domain | SUMO-activating enzyme subunit Uba2 | ThiF/MoeB/HesA family | THIF-type NAD/FAD binding fold | Ubiquitin activating enzyme, alpha domain superfamily | Ubiquitin-activating enzyme E1, Cys active site | Ubiquitin-activating enzyme E1, inactive adenylation domain, subdomain 1 | Ubiquitin/SUMO-activating enzyme ubiquitin-like domain |
|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M3ANZ0 | InterPro | 640 | ||||||||
| UniProtKB:Q7SXG4 | InterPro | 650 | ||||||||
| UniProtKB:B2GQ09 | InterPro | 640 | ||||||||
| UniProtKB:A0A8M3AWE5 | InterPro | 641 | ||||||||
| UniProtKB:A0AB32TC59 | InterPro | 639 |
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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 | CH211-149O7 | ZFIN Curated Data | |
| Encodes | EST | fi17g06 | ||
| Encodes | cDNA | MGC:66354 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:174022 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:191731 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_213363 (1) | 2111 nt | ||
| Genomic | GenBank:BX005103 (2) | 143034 nt | ||
| Polypeptide | UniProtKB:Q7SXG4 (1) | 650 aa |
| Species | Symbol | Chromosome | Accession # | Evidence |
|---|---|---|---|---|
| Human | UBA2 | 19 | Amino acid sequence comparison (1) |
- Liu, S., Hu, G., Luo, S., Wu, W., Zhou, Q., Jin, R., Zhang, Y., Ruan, H., Huang, H., Li, H. (2022) Insights into the evolution of the ISG15 and UBA7 system. Genomics. 114(2):110302
- Schnur, R.E., Yousaf, S., Liu, J., Chung, W.K., Rhodes, L., Marble, M., Zambrano, R.M., Sobreira, N., Jayakar, P., Pierpont, M.E., Schultz, M.J., Pichurin, P.N., Olson, R.J., Graham, G.E., Osmond, M., Contreras-García, G.A., Campo-Neira, K.A., Peñaloza-Mantilla, C.A., Flage, M., Kuppa, S., Navarro, K., Sacoto, M.J.G., Wentzensen, I.M., Scarano, M.I., Juusola, J., Prada, C.E., Hufnagel, R.B. (2021) UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly. Genetics in medicine : official journal of the American College of Medical Genetics. 23(9):1624-1635
- Zhou, T., Li, N., Jin, Y., Zeng, Q., Prabowo, W., Liu, Y., Tian, C., Bao, L., Liu, S., Yuan, Z., Fu, Q., Gao, S., Gao, D., Dunham, R., Shubin, N.H., Liu, Z. (2018) Chemokine C-C motif ligand 33 is a key regulator of teleost fish barbel development. Proceedings of the National Academy of Sciences of the United States of America. 115(22):E5018-E5027
- Dhliwayo, N., Sarras, M.P., Luczkowski, E., Mason, S., Intine, R.V. (2014) Parp inhibition prevents ten eleven translocase enzyme activation and hyperglycemia induced DNA demethylation. Diabetes... 63(9):3069-76
- 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
- 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
- Woods, I.G., Wilson, C., Friedlander, B., Chang, P., Reyes, D.K., Nix, R., Kelly, P.D., Chu, F., Postlethwait, J.H., and Talbot, W.S. (2005) The zebrafish gene map defines ancestral vertebrate chromosomes. Genome research. 15(9):1307-1314
- 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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