Gene
msh2
- ID
- ZDB-GENE-040426-2932
- Name
- mutS homolog 2 (E. coli)
- Symbol
- msh2 Nomenclature History
- Previous Names
-
- wu:fc06b02
- wu:fc13e09
- zgc:55333
- Type
- protein_coding_gene
- Location
- Chr: 12 Mapping Details/Browsers
- Description
- Enables guanine/thymine mispair binding activity. Acts upstream of or within maintenance of DNA repeat elements. Predicted to be part of MutSalpha complex. Predicted to be active in nucleus. Is expressed in alar plate midbrain region; immature eye; nervous system; and pharyngeal arch 3-7 skeleton. Human ortholog(s) of this gene implicated in several diseases, including Lynch syndrome (multiple); gastrointestinal system cancer (multiple); lung cancer (multiple); mismatch repair cancer syndrome; and transitional cell carcinoma. Orthologous to human MSH2 (mutS homolog 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 8 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7151921 (4 images)
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Feitsma et al., 2008
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| hu1886 | Allele with one point mutation | Donor Splice Site of Exon 5 | Splice Site, Exon Loss of Exon 5 | ENU | |
| kh19 | Allele with one deletion | Exon 3 | Frameshift | CRISPR | |
| kh20 | Allele with one deletion | Exon 3 | Inframe Deletion | CRISPR | |
| kh21 | Allele with one deletion | Exon 3 | Inframe Deletion | CRISPR | |
| la018142Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa6253 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa11438 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa22101 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa24911 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa31876 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Lynch syndrome 1 | Alliance | Lynch syndrome 1 | 120435 |
| Muir-Torre syndrome | Alliance | Muir-Torre syndrome | 158320 |
| Mismatch repair cancer syndrome 2 | 619096 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR000432 | DNA mismatch repair protein MutS, C-terminal |
| Domain | IPR007695 | DNA mismatch repair protein MutS-like, N-terminal |
| Domain | IPR007696 | DNA mismatch repair protein MutS, core |
| Domain | IPR007860 | DNA mismatch repair protein MutS, connector domain |
| Domain | IPR007861 | DNA mismatch repair protein MutS, clamp |
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Domain Details Per Protein
| Protein | Additional Resources | Length | DNA mismatch repair Msh2-type | DNA mismatch repair MutS | DNA mismatch repair protein Msh2, ATP-binding cassette domain | DNA mismatch repair protein MutS, clamp | DNA mismatch repair protein MutS, connector domain | DNA mismatch repair protein MutS, core | DNA mismatch repair protein MutS, core domain superfamily | DNA mismatch repair protein MutS, C-terminal | DNA mismatch repair protein MutS-like, N-terminal | DNA mismatch repair protein MutS, N-terminal | MutS, connector domain superfamily | P-loop containing nucleoside triphosphate hydrolase |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:Q803R6 | InterPro | 936 |
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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 | CH211-63A11 | ZFIN Curated Data | |
| Contains | SNP | rs3728508 | ZFIN Curated Data | |
| Encodes | EST | fc06b02 | ||
| Encodes | EST | fc13e09 | ||
| Encodes | EST | IMAGE:7151921 | Thisse et al., 2004 | |
| Encodes | cDNA | MGC:55333 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:192781 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_213524 (1) | 3069 nt | ||
| Genomic | GenBank:BX511072 (2) | 165932 nt | ||
| Polypeptide | UniProtKB:Q803R6 (1) | 936 aa |
- Shin, U., Nakhro, K., Oh, C.K., Carrington, B., Song, H., Varshney, G.K., Kim, Y., Song, H., Jeon, S., Robbins, G., Kim, S., Yoon, S., Choi, Y.J., Kim, Y.J., Burgess, S., Kang, S., Sood, R., Lee, Y., Myung, K. (2021) Large-scale generation and phenotypic characterization of zebrafish CRISPR mutants of DNA repair genes. DNA repair. 107:103173
- Honjo, Y., Ichinohe, T. (2019) Cellular responses to ionizing radiation change quickly over time during early development in zebrafish. Cell biology international. 43(5):516-527
- Ho, T.N., Paul, G.V., Chen, Y.H., Hsu, T. (2018) Heat stress upregulates G-T mismatch binding activities in zebrafish (Danio rerio) embryos preexposed and nonexposed to a sublethal level of cadmium (Cd). Chemosphere. 218:179-188
- Zhang, Y., O'Leary, M.N., Peri, S., Wang, M., Zha, J., Melov, S., Kappes, D.J., Feng, Q., Rhodes, J., Amieux, P.S., Morris, D.R., Kennedy, B.K., Wiest, D.L. (2017) Ribosomal Proteins Rpl22 and Rpl22l1 Control Morphogenesis by Regulating Pre-mRNA Splicing. Cell Reports. 18:545-556
- Leontovich, A.A., Intine, R.V., Sarras, M.P. (2016) Epigenetic Studies Point to DNA Replication/Repair Genes as a Basis for the Heritable Nature of Long Term Complications in Diabetes. Journal of Diabetes Research. 2016:2860780
- Maugars, G., Dufour, S. (2015) Demonstration of the Coexistence of Duplicated LH Receptors in Teleosts, and Their Origin in Ancestral Actinopterygians. PLoS One. 10:e0135184
- Šrut, M., Bourdineaud, J.P., Štambuk, A., Klobučar, G.I. (2015) Genomic and gene expression responses to genotoxic stress in PAC2 zebrafish embryonic cell line. Journal of applied toxicology : JAT. 35(11):1381-9
- Recher, G., Jouralet, J., Brombin, A., Heuzé, A., Mugniery, E., Hermel, J.M., Desnoulez, S., Savy, T., Herbomel, P., Bourrat, F., Peyriéras, N., Jamen, F., and Joly, J.S. (2013) Zebrafish midbrain slow-amplifying progenitors exhibit high levels of transcripts for nucleotide and ribosome biogenesis. Development (Cambridge, England). 140(24):4860-9
- 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
- Mirbahai, L., Williams, T.D., Zhan, H., Gong, Z., and Chipman, J.K. (2011) Comprehensive profiling of zebrafish hepatic proximal promoter CpG island methylation and its modification during chemical carcinogenesis. BMC Genomics. 12:3
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