Gene
ipo8
- ID
- ZDB-GENE-060503-3
- Name
- importin 8
- Symbol
- ipo8 Nomenclature History
- Previous Names
-
- si:ch211-116i17.1
- Type
- protein_coding_gene
- Location
- Chr: 4 Mapping Details/Browsers
- Description
- Predicted to enable small GTPase binding activity. Acts upstream of or within dorsal/ventral pattern formation; positive regulation of BMP signaling pathway; and regulation of fertilization. Predicted to be located in cytoplasm and nucleus. Predicted to be active in cytosol and nuclear envelope. Is expressed in blastomere. Orthologous to human IPO8 (importin 8).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Mbarek et al., 2023
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| idv8 | Allele with one delins | Exon 4 | Unknown | CRISPR | |
| la024756Tg | Transgenic insertion | Unknown | Unknown | DNA |
1 - 2 of 2
Show
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| VISS syndrome | 619472 |
1 - 1 of 1
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Armadillo-like helical | Armadillo-type fold | Exportin-2, central domain | Importin-beta, N-terminal domain |
|---|---|---|---|---|---|---|
| UniProtKB:A0A8M9PUE9 | InterPro | 992 | ||||
| UniProtKB:A0A8M3B1K0 | InterPro | 658 | ||||
| UniProtKB:A0A8M3ARG6 | InterPro | 661 | ||||
| UniProtKB:A0A2R8RMT5 | InterPro | 1018 | ||||
| UniProtKB:B7ZV68 | InterPro | 1015 |
1 - 5 of 5
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH73-1O10 | ZFIN Curated Data | |
| Contained in | BAC | CH211-116I17 | ZFIN Curated Data | |
| Contained in | BAC | CH211-251O16 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:198203 | ZFIN Curated Data |
1 - 4 of 4
Show
| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001044334 (1) | 3164 nt | ||
| Genomic | GenBank:CR790375 (1) | 153499 nt | ||
| Polypeptide | UniProtKB:A0A2R8RMT5 (1) | 1018 aa |
- Mbarek, H., Gordon, S.D., Duffy, D.L., Hubers, N., Mortlock, S., Beck, J.J., Hottenga, J.J., Pool, R., Dolan, C.V., Actkins, K.V., Gerring, Z.F., Van Dongen, J., Ehli, E.A., Iacono, W.G., Mcgue, M., Chasman, D.I., Gallagher, C.S., Schilit, S.L.P., Morton, C.C., Paré, G., Willemsen, G., Whiteman, D.C., Olsen, C.M., Derom, C., Vlietinck, R., Gudbjartsson, D., Cannon-Albright, L., Krapohl, E., Plomin, R., Magnusson, P.K.E., Pedersen, N.L., Hysi, P., Mangino, M., Spector, T.D., Palviainen, T., Milaneschi, Y., Penninnx, B.W., Campos, A.I., Ong, K.K., Perry, J.R.B., Lambalk, C.B., Kaprio, J., Ólafsson, Í., Duroure, K., Revenu, C., Rentería, M.E., Yengo, L., Davis, L., Derks, E.M., Medland, S.E., Stefansson, H., Stefansson, K., Del Bene, F., Reversade, B., Montgomery, G.W., Boomsma, D.I., Martin, N.G. (2023) Genome-wide association study meta-analysis of dizygotic twinning illuminates genetic regulation of female fecundity. Human reproduction (Oxford, England). 39(1):240-257
- Ziegler, A., Duclaux-Loras, R., Revenu, C., Charbit-Henrion, F., Begue, B., Duroure, K., Grimaud, L., Guihot, A.L., Desquiret-Dumas, V., Zarhrate, M., Cagnard, N., Mas, E., Breton, A., Edouard, T., Billon, C., Frank, M., Colin, E., Lenaers, G., Henrion, D., Lyonnet, S., Faivre, L., Alembik, Y., Philippe, A., Moulin, B., Reinstein, E., Tzur, S., Attali, R., McGillivray, G., White, S.M., Gallacher, L., Kutsche, K., Schneeberger, P., Girisha, K.M., Nayak, S.S., Pais, L., Maroofian, R., Rad, A., Vona, B., Karimiani, E.G., Lekszas, C., Haaf, T., Martin, L., Ruemmele, F., Bonneau, D., Cerf-Bensussan, N., Del Bene, F., Parlato, M. (2021) Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation. American journal of human genetics. 108(6):1126-1137
- 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
- Harty, B.L., Krishnan, A., Sanchez, N.E., Schiöth, H.B., Monk, K.R. (2015) Defining the gene repertoire and spatiotemporal expression profiles of adhesion G protein-coupled receptors in zebrafish. BMC Genomics. 16:62
- 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
- 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
1 - 7 of 7
Show