Gene
arhgef9a
- ID
- ZDB-GENE-070705-271
- Name
- Cdc42 guanine nucleotide exchange factor (GEF) 9a
- Symbol
- arhgef9a Nomenclature History
- Previous Names
-
- si:ch73-92i20.3
- si:cu137718.3
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in regulation of postsynaptic specialization assembly. Predicted to be located in cytoplasm and postsynaptic density. Predicted to be active in GABA-ergic synapse; cytosol; and postsynaptic specialization. Is expressed in retinal ganglion cell layer. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 8. Orthologous to human ARHGEF9 (Cdc42 guanine nucleotide exchange factor 9).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 8 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- eu2464 (9 images)
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 |
---|---|---|---|
developmental and epileptic encephalopathy 8 | Alliance | Developmental and epileptic encephalopathy 8 | 300607 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Domain | IPR000219 | Dbl homology (DH) domain |
Domain | IPR001452 | SH3 domain |
Domain | IPR001849 | Pleckstrin homology domain |
Domain | IPR035728 | Rho guanine nucleotide exchange factor 9, SH3 domain |
Homologous_superfamily | IPR011993 | PH-like domain superfamily |
Homologous_superfamily | IPR035899 | Dbl homology (DH) domain superfamily |
Homologous_superfamily | IPR036028 | SH3-like domain superfamily |
Domain Details Per Protein
Protein | Length | Dbl homology (DH) domain | Dbl homology (DH) domain superfamily | PH-like domain superfamily | Pleckstrin homology domain | Rho guanine nucleotide exchange factor 9, SH3 domain | SH3 domain | SH3-like domain superfamily |
---|---|---|---|---|---|---|---|---|
UniProtKB:A0A8M3ASD0
|
528 | |||||||
UniProtKB:E9QHS5
|
549 | |||||||
UniProtKB:A0A1Q1NKP8
|
521 |
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
arhgef9a-201
(1)
|
Ensembl | 890 nt | ||
mRNA |
arhgef9a-203
(1)
|
Ensembl | 3,022 nt | ||
mRNA |
arhgef9a-204
(1)
|
Ensembl | 1,548 nt | ||
ncRNA |
arhgef9a-002
(1)
|
Ensembl | 679 nt |
Interactions and Pathways
No data available
Plasmids
No data available