Gene
thoc2
- ID
- ZDB-GENE-030616-54
- Name
- THO complex 2
- Symbol
- thoc2 Nomenclature History
- Previous Names
-
- Tho2 (1)
- fb73e08
- fd21d11
- si:bz1o18.2
- wu:fb73e08
- wu:fd21d11
- Type
- protein_coding_gene
- Location
- Chr: 14 Mapping Details/Browsers
- Description
- Predicted to enable mRNA binding activity. Predicted to be involved in mRNA export from nucleus. Predicted to act upstream of or within mRNA processing. Predicted to be located in nucleus. Predicted to be part of THO complex part of transcription export complex. Human ortholog(s) of this gene implicated in X-linked intellectual disability-short stature-overweight syndrome. Orthologous to human THOC2 (THO complex subunit 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- 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 |
|---|---|---|---|---|---|
| hi3237Tg | Transgenic insertion | Intron 1 | Unknown | DNA | |
| sa6339 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa13841 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa16669 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa17955 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa35651 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa42361 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-thoc2 | LaCoursiere et al., 2024 | |
| CRISPR2-thoc2 | LaCoursiere et al., 2024 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| X-linked intellectual disability-short stature-overweight syndrome | Alliance | Intellectual developmental disorder, X-linked syndromic, Kumar type | 300957 |
| Arthrogryposis multiplex congenita 7, X-linked | 301127 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | THO complex subunit 2 | THO complex subunit 2, N-terminal domain | THO complex, subunitTHOC2, C-terminal | THO complex, subunitTHOC2, N-terminal |
|---|---|---|---|---|---|---|
| UniProtKB:F1R5B5 | InterPro | 1535 | ||||
| UniProtKB:F1QXF4 | InterPro | 1560 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
thoc2-202
(1)
|
Ensembl | 5,492 nt | ||
| mRNA |
thoc2-203
(1)
|
Ensembl | 5,457 nt | ||
| mRNA |
thoc2-204
(1)
|
Ensembl | 1,063 nt | ||
| ncRNA |
thoc2-001
(1)
|
Ensembl | 5,471 nt | ||
| ncRNA |
thoc2-002
(1)
|
Ensembl | 352 nt | ||
| ncRNA |
thoc2-005
(1)
|
Ensembl | 2,584 nt | ||
| ncRNA |
thoc2-006
(1)
|
Ensembl | 574 nt |
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-125C23 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-41K7 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-270L11 | ZFIN Curated Data | |
| Contained in | BAC | RP71-1O18 | ZFIN Curated Data | |
| Encodes | EST | fb73e08 | ||
| Encodes | EST | fd21d11 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001003847 (1) | 5484 nt | ||
| Genomic | GenBank:BX511226 (1) | 252757 nt | ||
| Polypeptide | UniProtKB:F1QXF4 (1) | 1560 aa |
- LaCoursiere, C.M., Ullmann, J.F.P., Koh, H.Y., Turner, L., Baker, C.M., Robens, B., Shao, W., Rotenberg, A., McGraw, C.M., Poduri, A.H. (2024) Zebrafish models of candidate human epilepsy-associated genes provide evidence of hyperexcitability. iScience. 27:110172110172
- Huang, Y., Gao, B.Q., Meng, Q., Yang, L.Z., Ma, X.K., Wu, H., Pan, Y.H., Yang, L., Li, D., Chen, L.L. (2023) CRISPR-dCas13-tracing reveals transcriptional memory and limited mRNA export in developing zebrafish embryos. Genome biology. 24:1515
- 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
- Baraban, S.C., Dinday, M.T., and Hortopan, G.A. (2013) Drug screening in Scn1a zebrafish mutant identifies clemizole as a potential Dravet syndrome treatment. Nature communications. 4:2410
- Sadler, K.C., Amsterdam, A., Soroka, C., Boyer, J., and Hopkins, N. (2005) A genetic screen in zebrafish identifies the mutants vps18, nf2 and foie gras as models of liver disease. Development (Cambridge, England). 132(15):3561-3572
- Amsterdam, A., Nissen, R.M., Sun, Z., Swindell, E., Farrington, S., and Hopkins, N. (2004) Identification of 315 genes essential for early zebrafish development. Proceedings of the National Academy of Sciences of the United States of America. 101(35):12792-12797
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