Gene
cnksr2b
- ID
- ZDB-GENE-030131-8048
- Name
- connector enhancer of kinase suppressor of Ras 2b
- Symbol
- cnksr2b Nomenclature History
- Previous Names
-
- fj48e09
- si:dkey-92k1.12
- wu:fj48e09 (1)
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Description
- Predicted to enable kinase activity. Predicted to act upstream of or within phosphorylation and regulation of signal transduction. Predicted to be located in cytoplasm and membrane. Human ortholog(s) of this gene implicated in syndromic X-linked mental retardation Hough type. Orthologous to human CNKSR2 (connector enhancer of kinase suppressor of Ras 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
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| a356 | Allele with one delins | Unknown | Unknown | CRISPR | |
| la028326Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa23943 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa23944 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa29600 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa39329 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa43650 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-cnksr2b | Thyme et al., 2019 | |
| CRISPR2-cnksr2b | Thyme et al., 2019 | |
| CRISPR3-cnksr2b | Thyme et al., 2019 | |
| CRISPR4-cnksr2b | Thyme et al., 2019 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| syndromic X-linked mental retardation Hough type | Alliance | Intellectual developmental disorder, X-linked syndromic, Houge type | 301008 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | CNK1-3, SAM domain | Connector enhancer of kinase suppressor of Ras | Connector enhancer of kinase suppressor of ras 2/3 domain | CRIC domain | PDZ domain | PDZ superfamily | PH-like domain superfamily | Pleckstrin homology domain | Sterile alpha motif domain | Sterile alpha motif/pointed domain superfamily |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:E7FAZ0 | InterPro | 963 | ||||||||||
| UniProtKB:A0A8M3AM98 | InterPro | 969 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
cnksr2b-201
(1)
|
Ensembl | 3,352 nt | ||
| mRNA |
cnksr2b-203
(1)
|
Ensembl | 2,409 nt | ||
| mRNA |
cnksr2b-204
(1)
|
Ensembl | 7,988 nt | ||
| ncRNA |
cnksr2b-002
(1)
|
Ensembl | 494 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 | CH211-267P17 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-92K1 | ZFIN Curated Data | |
| Encodes | EST | fj48e09 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_009295430 (1) | 4260 nt | ||
| Genomic | GenBank:BX510938 (1) | 204009 nt | ||
| Polypeptide | UniProtKB:A0A8M3AM98 (1) | 969 aa |
- Wei, X.Y., Jia, P.P., Hu, H., Liu, L., Li, T.Y., Li, Y.Z., Pei, D.S. (2023) Multi-omics reveal mechanisms underlying chronic kidney disease of unknown etiology (CKDu) pathogenesis using zebrafish. Environmental pollution (Barking, Essex : 1987). 337:122524
- Ghilardi, A., Diana, A., Prosperi, L., Del Giacco, L. (2020) Expression pattern of the small muscle protein, X-linked (smpx) gene during zebrafish embryonic and larval developmental stages. Gene expression patterns : GEP. 36:119110
- Thyme, S.B., Pieper, L.M., Li, E.H., Pandey, S., Wang, Y., Morris, N.S., Sha, C., Choi, J.W., Herrera, K.J., Soucy, E.R., Zimmerman, S., Randlett, O., Greenwood, J., McCarroll, S.A., Schier, A.F. (2019) Phenotypic Landscape of Schizophrenia-Associated Genes Defines Candidates and Their Shared Functions. Cell. 177(2):478-491.e20
- Bayés, À., Collins, M.O., Reig-Viader, R., Gou, G., Goulding, D., Izquierdo, A., Choudhary, J.S., Emes, R.D., Grant, S.G. (2017) Evolution of complexity in the zebrafish synapse proteome. Nature communications. 8:14613
- 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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