Gene
spen
- ID
- ZDB-GENE-050309-70
- Name
- spen family transcriptional repressor
- Symbol
- spen Nomenclature History
- Previous Names
-
- im:7148349 (1)
- si:ch211-125c5.1
- Type
- protein_coding_gene
- Location
- Chr: 23 Mapping Details/Browsers
- Description
- Predicted to enable mRNA binding activity. Acts upstream of or within heart contraction. Predicted to be active in nucleus. Human ortholog(s) of this gene implicated in esophagus squamous cell carcinoma. Orthologous to human SPEN (spen family transcriptional repressor).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
Wild Type Expression Summary
- All Phenotype Data
- 4 figures from Rattka et al., 2021
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| la022575Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| la028519Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa14508 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa17259 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa24329 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa24330 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa24331 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa24332 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa29926 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa37703 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| MO1-spen | N/A | Rattka et al., 2021 |
| MO2-spen | N/A | Rattka et al., 2021 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Radio-Tartaglia syndrome | 619312 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR000504 | RNA recognition motif domain |
| Domain | IPR010912 | Spen paralogue/orthologue C-terminal, metazoa |
| Domain | IPR012921 | Spen paralogue and orthologue SPOC, C-terminal |
| Domain | IPR034172 | SHARP, RNA recognition motif 1 |
| Domain | IPR034173 | SHARP, RNA recognition motif 2 |
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Domain Details Per Protein
| Protein | Additional Resources | Length | Msx2-interacting protein, MID domain | Msx2-interacting protein, nuclear receptor-interacting domain | Nucleotide-binding alpha-beta plait domain superfamily | RNA-binding domain superfamily | RNA recognition motif domain | SHARP, RNA recognition motif 1 | SHARP, RNA recognition motif 2 | SHARP, RNA recognition motif 3 | SHARP, RNA recognition motif 4 | Spen paralogue and orthologue SPOC, C-terminal | Spen paralogue/orthologue C-terminal, metazoa | SPOC-like, C-terminal domain superfamily |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M9PQS1 | InterPro | 3476 | ||||||||||||
| UniProtKB:A0A8M3AMZ8 | InterPro | 3475 | ||||||||||||
| UniProtKB:F1QMN6 | InterPro | 3476 |
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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 | CH211-125C5 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-31B16 | ZFIN Curated Data | |
| Encodes | EST | IMAGE:7148349 | Thisse et al., 2004 | |
| Encodes | EST | IMAGE:7163861 | Thisse et al., 2004 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_003201204 (1) | 12378 nt | ||
| Genomic | GenBank:BX957326 (1) | 259092 nt | ||
| Polypeptide | UniProtKB:A0A8M9PQS1 (1) | 3476 aa |
- Rattka, M., Westphal, S., Gahr, B.M., Just, S., Rottbauer, W. (2021) Spen deficiency interferes with Connexin 43 expression and leads to heart failure in zebrafish. Journal of Molecular and Cellular Cardiology. 155:25-35
- 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
- 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
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