ARHGAP5

Rho GTPase Activating Protein 5

Gene Information Card

Symbol ARHGAP5
Full Name Rho GTPase Activating Protein 5
Gene Type Protein coding
Chromosomal Location 14q12
NCBI Gene ID 331 ncbi.nlm.nih.gov/gene/331
Ensembl ID ENSG00000100852
UniProt ID Q13017
OMIM ID 602680
HGNC ID 676
Aliases p190-B, RhoGAP5, KIAA0260

Description

ARHGAP5 encodes a member of the Rho GTPase-activating protein family. The protein stimulates the GTPase activity of Rho family members, converting them to the inactive GDP-bound state, thereby regulating cytoskeletal dynamics, cell migration, and proliferation. It is widely expressed and implicated in cancer progression and metastasis.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Cancer (various types) Dysregulation of ARHGAP5 expression alters Rho GTPase signaling, promoting cell migration and invasion. NCBI Gene, COSMIC
Breast cancer Overexpression correlates with poor prognosis and increased metastatic potential. ClinVar, COSMIC
Lung cancer Altered expression linked to tumor growth and invasion. COSMIC

Expression Profile

Tissue Expression
Tissue nTPM level
Brain 12.5 Medium
Lung 8.3 Low
Liver 6.1 Low
Kidney 9.7 Low
Testis 15.2 Medium
Cell Line Expression
Cell Line nTPM Notes
HeLa 10.1 Cervical cancer cell line
A549 8.9 Lung cancer cell line
MCF7 7.5 Breast cancer cell line
HEK293 6.8 Embryonic kidney cell line
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1234G>A Missense <0.1% Unknown functional impact
c.567_568del Frameshift <0.01% Predicted loss of function
Mutation functional classification

Loss of Function (LOF)

Frameshift mutations leading to truncated protein and loss of RhoGAP activity.

Gain of Function (GOF)

Not well documented; some missense variants may alter substrate specificity.

Dominant Negative (DN)

Not reported.

Gene Ontology (GO)

• Rho GTPase activator activity • GTPase activator activity
• cytoskeleton • cell migration
• signal transduction

Pathways

Rho GTPase cycle
Signaling by Rho GTPases
Regulation of actin cytoskeleton

Protein Summary

ARHGAP5 (p190-B RhoGAP) is a 1492-amino acid protein containing a RhoGAP domain that inactivates RhoA, Rac1, and Cdc42. It regulates actin dynamics, cell adhesion, and migration. The protein is involved in tumor suppression and metastasis modulation.

Related Products

Product name Cat.No. Species Gene ID
ARHGAP5 Knockout HEK293 Cell Line EDJ-KQ3422 Human 394 Details Get a Quote
ARHGAP5 Knockout A-549 Cell Line EDJ-KQ26474 Human 394 Details Get a Quote
ARHGAP5 Knockout HCT 116 Cell Line EDJ-KQ26475 Human 394 Details Get a Quote
ARHGAP5 Knockout HeLa Cell Line EDJ-KQ26476 Human 394 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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