Gene
snf8
- ID
- ZDB-GENE-041114-117
- Name
- SNF8 subunit of ESCRT-II
- Symbol
- snf8 Nomenclature History
- Previous Names
-
- zgc:101578
- Type
- protein_coding_gene
- Location
- Chr: 12 Mapping Details/Browsers
- Description
- Acts upstream of or within forebrain development and optic chiasma development. Predicted to be located in cytoplasm. Predicted to be part of ESCRT II complex. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy. Orthologous to human SNF8 (SNF8 subunit of ESCRT-II).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from O'Boyle et al., 2007
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 3 figures from Brugger et al., 2024
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
No data available
Human Disease
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | ESCRT-2 complex, Snf8 | Snf8/Vps36 family | Winged helix DNA-binding domain superfamily | Winged helix-like DNA-binding domain superfamily |
|---|---|---|---|---|---|---|
| UniProtKB:B2GSG6 | InterPro | 258 | ||||
| UniProtKB:Q5U3V9 | InterPro | 258 |
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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 | DKEY-220F10 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:101578 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:192599 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001007412 (1) | 1295 nt | ||
| Genomic | GenBank:CR383677 (1) | 164387 nt | ||
| Polypeptide | UniProtKB:B2GSG6 (1) | 258 aa |
- Brugger, M., Lauri, A., Zhen, Y., Gramegna, L.L., Zott, B., Sekulić, N., Fasano, G., Kopajtich, R., Cordeddu, V., Radio, F.C., Mancini, C., Pizzi, S., Paradisi, G., Zanni, G., Vasco, G., Carrozzo, R., Palombo, F., Tonon, C., Lodi, R., La Morgia, C., Arelin, M., Blechschmidt, C., Finck, T., Sørensen, V., Kreiser, K., Strobl-Wildemann, G., Daum, H., Michaelson-Cohen, R., Ziccardi, L., Zampino, G., Prokisch, H., Abou Jamra, R., Fiorini, C., Arzberger, T., Winkelmann, J., Caporali, L., Carelli, V., Stenmark, H., Tartaglia, M., Wagner, M. (2024) Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy. American journal of human genetics. 111(3):594-613
- 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
- O'Boyle, S., Bree, R.T., McLoughlin, S., Grealy, M., and Byrnes, L. (2007) Identification of zygotic genes expressed at the midblastula transition in zebrafish. Biochemical and Biophysical Research Communications. 358(2):462-468
- Irwin, D.M., and Zhang, T. (2006) Evolution of the vertebrate glucose-dependent insulinotropic polypeptide (GIP) gene. Comparative biochemistry and physiology. Part D, Genomics & proteomics. 1(4):385-395
- 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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