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 enable microtubule binding activity. Predicted to be involved in several processes, including actin filament organization; positive regulation of neuron differentiation; and regulation of Rho protein signal transduction. Predicted to act upstream of or within several processes, including cell division; innate immune response; and nervous system development. Predicted to be located in several cellular components, including Golgi apparatus; bicellular tight junction; and spindle. Predicted to be active in cytoskeleton and ruffle membrane. Is expressed in several structures, including blood vessel; hindbrain neural plate; immature eye; mesoderm; and nervous system. Human ortholog(s) of this gene implicated in immunodeficiency 62 and neurodevelopmental disorder with midbrain and hindbrain malformations. 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 | 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 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