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 located in cytoplasm and nucleolus. 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 | Additional Resources | 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 | InterPro | 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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