Gene

arhgef2a

ID
ZDB-GENE-030722-5
Name
Rho guanine nucleotide exchange factor (GEF) 2a
Symbol
arhgef2a Nomenclature History
Previous Names
  • arhgef1
  • arhgef1a (1)
  • cb473 (1)
  • si:dkey-240h12.3
  • zgc:158261
Type
protein_coding_gene
Location
Chr: 19 Mapping Details/Browsers
Description
Predicted to have Rho guanyl-nucleotide exchange factor activity and 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 localize to 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
Expression
All Expression Data
5 figures from Thisse et al., 2001
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With arhgef2a Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
?Neurodevelopmental disorder with midbrain and hindbrain malformations 617523
Associated With arhgef2a Via Experimental Models
No data available
Gene Ontology
Protein Domains
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
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
UniProtKB:A0A8M3B3E5 874
UniProtKB:A0A8M9PN51 1139
UniProtKB:A0A8M9PRC8 1149
UniProtKB:A2RUX1 935
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations