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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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ARHGAP42
Rho GTPase activating protein 42
Chromosome 11 Β· 11q22.1
NCBI Gene: 143872Ensembl: ENSG00000165895.19HGNC: HGNC:26545UniProt: A6NI28
31PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
GTPase activator activityactivation of GTPase activitysignal transductioncytoplasmhypertensioncoronary artery diseaseessential hypertensionMyocardial Ischemia
✦AI Summary

ARHGAP42 is a smooth muscle cell-selective GTPase-activating protein that primarily functions as a RhoA inhibitor to regulate blood pressure homeostasis 1. The protein contains GTPase activator activity and functions by suppressing RhoA-dependent vascular smooth muscle contractility 1. ARHGAP42 expression is controlled through multiple regulatory mechanisms: a blood pressure-associated SNP (rs604723) in an intronic enhancer promotes serum response factor binding to increase expression 1, while RBPJ and TEAD1 transcription factors cooperatively bind to regulate SMC-selective expression 2. Post-transcriptional regulation occurs through miR505-mediated degradation and long non-coding RNA AK124326-mediated transcriptional inhibition 2. Clinically, ARHGAP42 haploinsufficiency is associated with age-dependent hypertension 3, and a homozygous stop-gain variant causes childhood interstitial lung disease with systemic hypertension and enhanced RhoA signaling 4. The protein's role extends beyond vascular regulation, as elevated ARHGAP42 expression in nasopharyngeal carcinoma promotes cell migration and invasion through PI3K/Akt signaling 5. Additionally, ARHGAP42 expression levels contribute to a three-gene prognostic score for predicting clinical response to anti-PD-1 immunotherapy in renal cell carcinoma 6. These findings support ARHGAP42 as both a cardiovascular disease susceptibility gene and a potential oncogenic factor in certain cancers.

Sources cited
1
ARHGAP42 is a smooth muscle-selective RhoA GTPase-activating protein controlling blood pressure; rs604723 SNP increases expression via serum response factor binding
PMID: 28112683
2
RBPJ and TEAD1 cooperatively regulate ARHGAP42 transcription; miR505 and lncRNA AK124326 provide post-transcriptional regulation
PMID: 31886719
3
ARHGAP42 haploinsufficiency leads to age-dependent hypertension in human translocation carriers
PMID: 30903111
4
Homozygous stop-gain ARHGAP42 variant causes childhood interstitial lung disease with hypertension and enhanced RhoA signaling
PMID: 34232960
5
ARHGAP42 overexpression promotes nasopharyngeal carcinoma cell migration and invasion via PI3K/Akt pathway
PMID: 29936709
6
ARHGAP42 expression is part of a three-gene score predicting response to anti-PD-1 therapy in renal cell carcinoma
PMID: 38660294
Disease Associationsβ“˜20
hypertensionOpen Targets
0.54Moderate
coronary artery diseaseOpen Targets
0.53Moderate
essential hypertensionOpen Targets
0.50Moderate
Myocardial IschemiaOpen Targets
0.49Moderate
neurodegenerative diseaseOpen Targets
0.46Moderate
coronary atherosclerosisOpen Targets
0.46Moderate
cardiovascular diseaseOpen Targets
0.45Moderate
alcohol drinkingOpen Targets
0.45Moderate
Increased blood pressureOpen Targets
0.42Moderate
goutOpen Targets
0.41Moderate
hypertension, pregnancy-inducedOpen Targets
0.40Weak
colorectal cancerOpen Targets
0.40Weak
gastroesophageal reflux diseaseOpen Targets
0.35Weak
metabolic diseaseOpen Targets
0.33Weak
myocardial infarctionOpen Targets
0.33Weak
Transient global amnesiaOpen Targets
0.32Weak
adverse effectOpen Targets
0.32Weak
schizophreniaOpen Targets
0.32Weak
angina pectorisOpen Targets
0.32Weak
heart failureOpen Targets
0.32Weak
Pathogenic Variants1
t(11;18)(q11.2;q12.2)Likely pathogenic
not provided
β˜†β˜†β˜†β˜†2018
View on ClinVar β†—
Related Genes
KRTAP20-4Protein interaction71%RALGAPBShared pathway50%RALGAPA2Shared pathway50%RALGAPA1Shared pathway33%RANGAP1Shared pathway25%CCDC125Shared pathway25%
Tissue Expression6 tissues
Heart
100%
Liver
55%
Lung
40%
Bone Marrow
29%
Brain
22%
Ovary
21%
Gene Interaction Network
Click a node to explore
ARHGAP42KRTAP20-4RALGAPBRALGAPA2RALGAPA1RANGAP1CCDC125
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt A6NI28
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.67LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.52 [0.40–0.67]
RankingsWhere ARHGAP42 stands among ~20K protein-coding genes
  • #11,663of 20,598
    Most Researched31
  • #5,252of 5,498
    Most Pathogenic Variants1
  • #4,891of 17,882
    Most Constrained (LOEUF)0.67
Genes detectedARHGAP42
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans.
PMID: 25954001
Science Β· 2015
1.00
2
Transcriptional and posttranscriptional regulation of the SMC-selective blood pressure-associated gene, ARHGAP42.
PMID: 31886719
Am J Physiol Heart Circ Physiol Β· 2020
0.90
3
Haploinsufficiency of ARHGAP42 is associated with hypertension.
PMID: 30903111
Eur J Hum Genet Β· 2019
0.80
4
ARHGAP42 promotes cell migration and invasion involving PI3K/Akt signaling pathway in nasopharyngeal carcinoma.
PMID: 29936709
Cancer Med Β· 2018
0.70
5
SB Digestor: a tailored driver gene identification tool for dissecting heterogeneous Sleeping Beauty transposon-induced tumors.
PMID: 37063417
Int J Biol Sci Β· 2023
0.60