ARHGEF18 - Rho/Rac guanine nucleotide exchange factor 18 Gene

Homo sapiens

Also known as RP78; SA-RhoGEF; p114RhoGEF; P114-RhoGEF

Gene ID: 23370 | Gene type: protein coding

About ARHGEF18

Cytogenetic location: 19p13.2 Genomic coordinates (GRCh38): 19:7,348,937-7,479,989 (from NCBI)

This gene has 7 transcripts (splice variants), 271 orthologues, 8 paralogues and is associated with 3 phenotypes. Ubiquitous expression in spleen (RPKM 12.9), lymph node (RPKM 11.3) and 25 other tissues.

Summary

Rho GTPases are GTP binding proteins that regulate a wide spectrum of cellular functions. These cellular processes include cytoskeletal rearrangements, gene transcription, cell growth and motility. Activation of Rho GTPases is under the direct control of guanine nucleotide exchange factors (GEFs). The protein encoded by this gene is a guanine nucleotide exchange factor and belongs to the Rho GTPase GEF family. Family members share a common feature, a Dbl (DH) homology domain followed by a pleckstrin (PH) homology domain. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Nov 2018]

ARHGEF18 Products(4)

mRNA	Protein	Name
NM_001130955.2	NP_001124427.2	rho guanine nucleotide exchange factor 18 isoform b
NM_001367823.1	NP_001354752.1	rho guanine nucleotide exchange factor 18 isoform c
NM_001367824.1	NP_001354753.1	rho guanine nucleotide exchange factor 18 isoform a
NM_015318.4	NP_056133.2	rho guanine nucleotide exchange factor 18 isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables guanyl-nucleotide exchange factor activity	IDA IDA: Inferred from direct assay	14512443	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25753039	GOA

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of or within actin cytoskeleton organization	IDA IDA: Inferred from direct assay	14512443	GOA
involved in negative regulation of stress fiber assembly	IMP IMP: Inferred from mutant phenotype	25753039	GOA
involved in protein localization to cell-cell junction	IMP IMP: Inferred from mutant phenotype	25753039	GOA
acts upstream of or within regulation of cell shape	IDA IDA: Inferred from direct assay	14512443	GOA
acts upstream of or within small GTPase-mediated signal transduction	IDA IDA: Inferred from direct assay	14512443	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in apical part of cell	IDA IDA: Inferred from direct assay	22006950	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ARHGEF18 Protein Structure

RhoGEF

0
200
400
600
800
1000
1173 a.a.

Protein Preferred Names

Protein Names

rho guanine nucleotide exchange factor 18

114 kDa Rho-specific guanine nucleotide exchange factor

ARHGEF18 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	ARHGEF18	Q6ZSZ5	AKAP13	Homo sapiens	Q12802	Anti Tag CoIP	35271311

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Retinitis Pigmentosa 78

RP78	Retinitis Pigmentosa, Type 78

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Retinitis Pigmentosa 83

RP83	Retinitis Pigmentosa, Type 83

Retinitis Pigmentosa 41

RP41	Retinal Degeneration, Autosomal Recessive, Prominin-Related
Retinal Degeneration Autosomal Recessive Prominin-Related	Retinitis Pigmentosa-41
Retinitis Pigmentosa, Type 41

Retinitis Pigmentosa 86

RP86	Retinitis Pigmentosa, Type 86

Retinal Degeneration

Degeneration Of Retina

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00953	ARHGEF18 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	ARHGEF18	RGD	RGD:1311448
Bos taurus	ARHGEF18	VGNC	VGNC:106426
Mus musculus	ARHGEF18	MGD	MGI:2142567

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