Gene
exosc2
- ID
- ZDB-GENE-050417-27
- Name
- exosome component 2
- Symbol
- exosc2 Nomenclature History
- Previous Names
-
- fa97b01
- wu:fa97b01
- zgc:110117
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Predicted to enable RNA binding activity. Acts upstream of or within neural retina development; ribonucleotide metabolic process; and spinal cord development. Predicted to be part of cytoplasmic exosome (RNase complex) and nuclear exosome (RNase complex). Is expressed in immature eye; midbrain hindbrain boundary; and optic tectum. Human ortholog(s) of this gene implicated in short stature, hearing loss, retinitis pigmentosa, and distinctive facies. Orthologous to human EXOSC2 (exosome component 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:6903240 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 4 figures from Yatsuka et al., 2020
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| gyf27 | Allele with one deletion | Exon 5 | Unknown | CRISPR | |
| oi1 | Allele with one deletion | Exon 1 | Unknown | CRISPR | |
| sa10662 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa33781 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa40616 | Allele with one point mutation | Unknown | Splice Site | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-exosc2 | Yatsuka et al., 2020 | |
| CRISPR2-exosc2 | Zebrafish Nomenclature Committee |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| short stature, hearing loss, retinitis pigmentosa, and distinctive facies | Alliance | Short stature, hearing loss, retinitis pigmentosa, and distinctive facies | 617763 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR004088 | K Homology domain, type 1 |
| Domain | IPR025721 | Exosome complex component, N-terminal domain |
| Domain | IPR048565 | RRP4, S1 domain |
| Family | IPR026699 | Exosome complex RNA-binding protein 1/RRP40/RRP4 |
| Homologous_superfamily | IPR012340 | Nucleic acid-binding, OB-fold |
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Domain Details Per Protein
| Protein | Length | Exosome complex component, N-terminal domain | Exosome complex RNA-binding protein 1/RRP40/RRP4 | K Homology domain, type 1 | K Homology domain, type 1 superfamily | Nucleic acid-binding, OB-fold | RRP4, S1 domain |
|---|---|---|---|---|---|---|---|
|
UniProtKB:F8W3K6
|
295 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
exosc2-201
(1)
|
Ensembl | 1,032 nt | ||
| ncRNA |
exosc2-002
(1)
|
Ensembl | 782 nt |
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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 | CH73-64K8 | ZFIN Curated Data | |
| Encodes | EST | fa97b01 | ||
| Encodes | EST | IMAGE:6903240 | Thisse et al., 2004 | |
| Encodes | cDNA | MGC:110117 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:192005 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001017572 (1) | 1029 nt | ||
| Genomic | GenBank:CU929062 (1) | 111698 nt | ||
| Polypeptide | UniProtKB:F8W3K6 (1) | 295 aa |
- Zebrafish Nomenclature Committee (2025) Nomenclature Data Curation (2025). Nomenclature Committee Submission.
- Cabrera-Quio, L.E., Schleiffer, A., Mechtler, K., Pauli, A. (2021) Zebrafish Ski7 tunes RNA levels during the oocyte-to-embryo transition. PLoS Genetics. 17:e1009390
- Yatsuka, H., Hada, K., Shiraishi, H., Umeda, R., Morisaki, I., Urushibata, H., Shimizu, N., Sebastian, W.A., Hikida, T., Ishitani, T., Hanada, R., Shimada, T., Kimoto, K., Kubota, T., Hanada, T. (2020) Exosc2 deficiency leads to developmental disorders by causing a nucleotide pool imbalance in zebrafish. Biochemical and Biophysical Research Communications. 533:1470-1476
- 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
- Ettl, A.K., Holzschuh, J., and Driever, W. (2006) The zebrafish mutation m865 affects formation of dopaminergic neurons and neuronal survival, and maps to a genetic interval containing the sepiapterin reductase locus. Anatomy and embryology. 211(7):73-86
- 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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