Gene
cyfip2
- ID
- ZDB-GENE-080724-2
- Name
- cytoplasmic FMR1 interacting protein 2
- Symbol
- cyfip2 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 14 Mapping Details/Browsers
- Description
- Acts upstream of or within with a positive effect on retinal ganglion cell axon guidance. Acts upstream of or within retina layer formation and startle response. Predicted to be located in cytoplasm. Predicted to be active in neuron projection and synapse. Is expressed in central nervous system and retina. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 65. Orthologous to human CYFIP2 (cytoplasmic FMR1 interacting protein 2).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 3 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 19 figures from 7 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
developmental and epileptic encephalopathy 65 | Alliance | Developmental and epileptic encephalopathy 65 | 618008 |
Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Length | CYRIA/CYRIB, Rac1 binding domain | Cytoplasmic FMR1-interacting |
---|---|---|---|
UniProtKB:A0A8M3AS06
|
1251 | ||
UniProtKB:A5A5E1
|
1253 | ||
UniProtKB:B3DIT1
|
1252 | ||
UniProtKB:A0A8M3AP56
|
1016 |
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
cyfip2-201
(1)
|
Ensembl | 4,023 nt | ||
mRNA |
cyfip2-202
(1)
|
Ensembl | 5,369 nt | ||
mRNA |
cyfip2-203
(1)
|
Ensembl | 3,762 nt | ||
mRNA |
cyfip2-204
(1)
|
Ensembl | 6,797 nt |
Interactions and Pathways
No data available
Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
---|---|---|---|---|---|---|---|
Ab1-cyfip2 | polyclonal | IgG | Rabbit |
|
Abcam plc
|
2 |
Plasmids
No data available