Gene
carmil2
- ID
- ZDB-GENE-050419-197
- Name
- capping protein regulator and myosin 1 linker 2
- Symbol
- carmil2 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 18 Mapping Details/Browsers
- Description
- Predicted to be involved in cell migration and regulation of Arp2/3 complex-mediated actin nucleation. Predicted to be located in cytoplasm. Predicted to be active in lamellipodium and plasma membrane. Is expressed in central nervous system; eye; and pronephric duct. Human ortholog(s) of this gene implicated in immunodeficiency 58. Orthologous to human CARMIL2 (capping protein regulator and myosin 1 linker 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from Stark et al., 2015
- 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 |
---|---|---|---|---|---|
ct78bGt | Transgenic insertion | Unknown | Unknown | DNA | |
la027930Tg | Transgenic insertion | Unknown | Unknown | DNA | |
sa6517 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa6518 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa12493 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa13235 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa15203 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa23302 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa23303 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa23304 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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No data available
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
immunodeficiency 58 | Alliance | Immunodeficiency 58 | 618131 |
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Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Domain | IPR031943 | CARMIL, C-terminal domain |
Domain | IPR041245 | CARMIL, pleckstrin homology domain |
Family | IPR051279 | Protein Phosphatase 1 Regulatory and Actin Interaction Protein |
Homologous_superfamily | IPR011993 | PH-like domain superfamily |
Homologous_superfamily | IPR032675 | Leucine-rich repeat domain superfamily |
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Domain Details Per Protein
Protein | Additional Resources | Length | CARMIL, C-terminal domain | CARMIL, pleckstrin homology domain | Leucine-rich repeat | Leucine-rich repeat domain superfamily | PH-like domain superfamily | Protein Phosphatase 1 Regulatory and Actin Interaction Protein |
---|---|---|---|---|---|---|---|---|
UniProtKB:F6NI44 | InterPro | 1665 | ||||||
UniProtKB:A0A8M9PQB9 | InterPro | 1006 |
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Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
carmil2-201
(1)
|
Ensembl | 5,241 nt |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:NM_001317766 (1) | 5241 nt | ||
Genomic | GenBank:BX088593 (1) | 251217 nt | ||
Polypeptide | UniProtKB:F6NI44 (1) | 1665 aa |
- 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
- Stark, B.C., Cooper, J.A. (2015) Differential expression of CARMIL-family genes during zebrafish development. Cytoskeleton (Hoboken, N.J.). 72(10):534-41
- 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
- Trinh, A., Hochgreb, T., Graham, M., Wu, D., Ruf-Zamojski, F., Jayasena, C.S., Saxena, A., Hawk, R., Gonzalez-Serricchio, A., Dixson, A., Chow, E., Gonzales, C., Leung, H.Y., Solomon, I., Bronner-Fraser, M., Megason, S.G., and Fraser, S.E. (2011) A versatile gene trap to visualize and interrogate the function of the vertebrate proteome. Genes & Development. 25(21):2306-20
- 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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