Gene
arhgef2a
- ID
- ZDB-GENE-030722-5
- Name
- Rho guanine nucleotide exchange factor (GEF) 2a
- Symbol
- arhgef2a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 19 Mapping Details/Browsers
- Description
- Predicted to have guanyl-nucleotide exchange factor activity and metal ion binding activity. Predicted to be involved in intracellular signal transduction. Human ortholog(s) of this gene implicated in neurodevelopmental disorder with midbrain and hindbrain malformations and primary immunodeficiency disease. Is expressed in several structures, including blood vessel; hindbrain neural plate; immature eye; mesoderm; and nervous system. Orthologous to several human genes including ARHGEF2 (Rho/Rac guanine nucleotide exchange factor 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 5 figures from Thisse et al., 2001
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb473 (41 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 |
|---|---|---|---|
| neurodevelopmental disorder with midbrain and hindbrain malformations | Alliance | ?Neurodevelopmental disorder with midbrain and hindbrain malformations | 617523 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR000219 | Dbl homology (DH) domain |
| Domain | IPR001849 | Pleckstrin homology domain |
| Domain | IPR002219 | Protein kinase C-like, phorbol ester/diacylglycerol-binding domain |
| Domain | IPR037806 | ARHGEF2, PH domain |
| Domain | IPR041020 | ARHGEF1-like, PH domain |
| Family | IPR051632 | Rho guanine nucleotide exchange factor |
| Homologous_superfamily | IPR011993 | PH-like domain superfamily |
| Homologous_superfamily | IPR035899 | Dbl homology (DH) domain superfamily |
| Homologous_superfamily | IPR046349 | C1-like domain superfamily |
Domain Details Per Protein
| Protein | Length | ARHGEF1-like, PH domain | ARHGEF2, PH domain | C1-like domain superfamily | Dbl homology (DH) domain | Dbl homology (DH) domain superfamily | PH-like domain superfamily | Pleckstrin homology domain | Protein kinase C-like, phorbol ester/diacylglycerol-binding domain | Rho guanine nucleotide exchange factor |
|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M3B3E5
|
874 | |||||||||
|
UniProtKB:A0A8M9PN51
|
1139 | |||||||||
|
UniProtKB:A0A8M9PRC8
|
1149 | |||||||||
|
UniProtKB:A2RUX1
|
935 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
arhgef1a-201
(1)
|
Ensembl | 4,238 nt | ||
| mRNA |
si:dkey-240h12.3-201
(1)
|
Ensembl | 961 nt |
Interactions and Pathways
No data available
Plasmids
No data available