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 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 intracellular signal transduction. Predicted to be located in Golgi apparatus and bicellular tight junction. 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

Expression

All Expression Data

5 figures from Thisse et al., 2001

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

cb473 (41 images)

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	Alliance	?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	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