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; regulation of Arp2/3 complex-mediated actin nucleation; and regulation of actin cytoskeleton reorganization. Predicted to act upstream of or within maintenance of cell polarity. Predicted to be located in cytoplasm and membrane. 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
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
immunodeficiency 58 | Alliance | Immunodeficiency 58 | 618131 |
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 |
Repeat | IPR001611 | Leucine-rich repeat |
Domain Details Per Protein
Protein | 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
|
1665 | ||||||
UniProtKB:A0A8M9PQB9
|
1006 |
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
carmil2-201
(1)
|
Ensembl | 5,241 nt |
Interactions and Pathways
No data available
Plasmids
No data available