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 have guanyl-nucleotide exchange factor activity. Human ortholog(s) of this gene implicated in early infantile epileptic encephalopathy 8. Is expressed in retinal ganglion cell layer. Orthologous to human ARHGEF9 (Cdc42 guanine nucleotide exchange factor 9).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

8 figures from 2 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

eu2464 (9 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 arhgef9a Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
developmental and epileptic encephalopathy 8	Alliance	Developmental and epileptic encephalopathy 8	300607

Associated With arhgef9a 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	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 InterPro	528
UniProtKB:E9QHS5 InterPro	549
UniProtKB:A0A1Q1NKP8 InterPro	521

Transcripts

Genome Browsers

NCBI

Ensembl

ZFIN

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	arhgef9a-201 (1) Ensembl	Ensembl	890 nt	Select Tool
mRNA	arhgef9a-203 (1) Ensembl	Ensembl	3,022 nt	Select Tool
mRNA	arhgef9a-204 (1) Ensembl	Ensembl	1,548 nt	Select Tool ZFIN BLAST
ncRNA	arhgef9a-002 (1) Ensembl	Ensembl	679 nt	Select Tool

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