ARHGEF25

Rho Guanine Nucleotide Exchange Factor 25

Gene Information Card

Symbol ARHGEF25
Full Name Rho Guanine Nucleotide Exchange Factor 25
Gene Type protein-coding
Chromosomal Location 12q13.12
NCBI Gene ID 115557 ncbi.nlm.nih.gov/gene/115557
Ensembl ID ENSG00000135446
UniProt ID Q5T0T0
OMIM ID 610524
HGNC ID 25521
Aliases GEF-H3, p63RhoGEF

Description

ARHGEF25 encodes a Rho guanine nucleotide exchange factor that specifically activates RhoA by catalyzing the exchange of GDP for GTP. It is involved in cytoskeletal reorganization, cell migration, and smooth muscle contraction. The protein contains a Dbl homology (DH) domain and a pleckstrin homology (PH) domain.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Hypertension ARHGEF25 activates RhoA, leading to increased vascular smooth muscle contraction and elevated blood pressure. PMID: 20037588
Cancer (colorectal) Overexpression of ARHGEF25 promotes RhoA-mediated cell proliferation and invasion. PMID: 23431173

Expression Profile

Tissue Expression
Tissue nTPM level
Heart 12.3 Medium
Skeletal Muscle 8.7 Low
Brain 5.2 Low
Lung 4.1 Low
Cell Line Expression
Cell Line nTPM Notes
HEK 293 15.6 High expression
HeLa 9.2 Moderate expression
HUVEC 6.8 Low expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1045C>T (p.Arg349Trp) Missense 0.001% (gnomAD) Unknown functional effect
c.782G>A (p.Arg261His) Missense 0.002% (gnomAD) Unknown functional effect
Mutation functional classification

Loss of Function (LOF)

No confirmed loss-of-function mutations reported.

Gain of Function (GOF)

No confirmed gain-of-function mutations reported.

Dominant Negative (DN)

No confirmed dominant-negative mutations reported.

Gene Ontology (GO)

• Rho guanyl-nucleotide exchange factor activity • GTPase activator activity
• cytosol • plasma membrane
• cell projection • regulation of Rho protein signal transduction
• actin cytoskeleton organization • cell migration

Pathways

• RhoA signaling pathway
• G protein-coupled receptor signaling pathway
• Regulation of actin cytoskeleton

Protein Summary

ARHGEF25 (GEF-H3/p63RhoGEF) is a 580-amino acid protein containing DH and PH domains. It specifically activates RhoA but not Rac1 or Cdc42. The protein is localized to the cytoplasm and plasma membrane, and its activity is regulated by G protein-coupled receptors. It plays a role in smooth muscle contraction, cell adhesion, and migration.

Related Products

Product name Cat.No. Species Gene ID
ARHGEF25 Knockout HEK293 Cell Line EDJ-KQ7523 Human 115557 Details Get a Quote
ARHGEF25 Knockout A-549 Cell Line EDJ-KQ32800 Human 115557 Details Get a Quote
ARHGEF25 Knockout HCT 116 Cell Line EDJ-KQ32801 Human 115557 Details Get a Quote
ARHGEF25 Knockout HeLa Cell Line EDJ-KQ32802 Human 115557 Details Get a Quote
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