HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ARHGAP19
Rho GTPase activating protein 19
Chromosome 10 Β· 10q24.1
NCBI Gene: 84986Ensembl: ENSG00000213390.12HGNC: HGNC:23724UniProt: Q14CB8
35PubMed Papers
20Diseases
0Drugs
4Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
GTPase activator activityprotein bindingGTPase bindingcytoplasmAbnormality of the skeletal systemtype 2 diabetes mellitusMethicillin-Resistant Staphylococcus Aureus Infectionrisk-taking behaviour
✦AI Summary

ARHGAP19 is a Rho GTPase-activating protein that negatively regulates RhoA signaling by catalyzing GTP hydrolysis to convert Rho GTPases to their inactive GDP-bound state 1. The protein localizes to multiple cellular compartments including the cytoplasm, plasma membrane, nucleus, and equatorial cell cortex, with subcellular positioning dynamically regulated by CDK1 and ROCK-mediated phosphorylation during mitosis 2. ARHGAP19 is essential for cell division, controlling cytokinesis, chromosome 10, and proper recruitment of contractile machinery components including citron and myosin II to the mitotic cleavage furrow in T lymphocytes 1. Loss-of-function mutations in ARHGAP19 cause autosomal recessive Charcot-Marie-Tooth disease, a motor-predominant inherited neuropathy affecting 25 individuals from 20 families 3. Patient variants impair GAP activity and reduce protein levels, leading to axonal and synaptic morphology defects through dysregulation of motor proteins and cell cycle pathways 3. Beyond neurological function, ARHGAP19 participates in endometrial epithelial transformation during uterine receptivity establishment, where it remodels junctional complexes and cytoskeletal architecture to promote embryo implantation 4. Genetic variants associated with ARHGAP19 expression show suggestive association with supernormal coronary artery phenotypes 5. However, ARHGAP19 demonstrates no causal relationship with autism spectrum disorder 6.

Sources cited
1
Biallelic ARHGAP19 variants cause motor-predominant neuropathy through loss-of-function mechanism affecting GAP activity and axonal/synaptic morphology
PMID: 41086021
2
ARHGAP19 shows no causal association with autism spectrum disorder
PMID: 39514479
3
ARHGAP19 phosphorylation by CDK1 and ROCK regulates subcellular localization and function during mitosis
PMID: 29420299
4
ARHGAP19 acts as GAP for RhoA and controls cytokinesis, chromosome segregation, and recruitment of contractile machinery in T lymphocytes
PMID: 24259668
5
ARHGAP19 contains RhoGAP domain and bipartite nuclear localization signal; expressed in fetal tissues and adult hematopoietic tissues
PMID: 17454002
6
ARHGAP19 expression associated with supernormal coronary artery phenotypes through eQTL variants
PMID: 35793981
7
ARHGAP19 regulates endometrial epithelial transformation and junctional protein remodeling during uterine receptivity establishment
PMID: 33407571
Disease Associationsβ“˜20
Abnormality of the skeletal systemOpen Targets
0.38Weak
type 2 diabetes mellitusOpen Targets
0.34Weak
Methicillin-Resistant Staphylococcus Aureus InfectionOpen Targets
0.28Weak
risk-taking behaviourOpen Targets
0.27Weak
Abnormal blistering of the skinOpen Targets
0.27Weak
diabetes mellitusOpen Targets
0.25Weak
major depressive disorderOpen Targets
0.17Weak
attention deficit hyperactivity disorderOpen Targets
0.17Weak
intelligenceOpen Targets
0.16Weak
vulvitisOpen Targets
0.12Weak
lung diseaseOpen Targets
0.03Suggestive
cystic fibrosisOpen Targets
0.02Suggestive
lung cancerOpen Targets
0.02Suggestive
neuropathyOpen Targets
0.01Suggestive
triple-negative breast cancerOpen Targets
0.01Suggestive
breast cancerOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
breast carcinomaOpen Targets
0.01Suggestive
acute myeloid leukemiaOpen Targets
0.00Suggestive
diabetic nephropathyOpen Targets
0.00Suggestive
Pathogenic Variants4
NM_032900.6(ARHGAP19):c.563del (p.Pro188fs)Likely pathogenic
Charcot-Marie-Tooth disease, axonal, type 2KK
β˜…β˜†β˜†β˜†2026β†’ Residue 188
NM_032900.6(ARHGAP19):c.203T>C (p.Leu68Pro)Pathogenic
Charcot-Marie-Tooth disease, axonal, type 2KK
β˜†β˜†β˜†β˜†2026β†’ Residue 68
NM_032900.6(ARHGAP19):c.585dup (p.His196fs)Pathogenic
Charcot-Marie-Tooth disease, axonal, type 2KK
β˜†β˜†β˜†β˜†2026β†’ Residue 196
NM_032900.6(ARHGAP19):c.451C>A (p.Gln151Lys)Pathogenic
Charcot-Marie-Tooth disease, axonal, type 2KK
β˜†β˜†β˜†β˜†2026β†’ Residue 151
View on ClinVar β†—
Related Genes
FAM13AShared pathway100%ARHGEF9Shared pathway100%FAM13BShared pathway100%PLEKHG6Shared pathway100%PLEKHG1Shared pathway100%GARNL3Shared pathway100%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
29%
Brain
24%
Lung
19%
Liver
15%
Heart
14%
Gene Interaction Network
Click a node to explore
ARHGAP19FAM13AARHGEF9FAM13BPLEKHG6PLEKHG1GARNL3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q14CB8
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.02LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.78 [0.60–1.02]
RankingsWhere ARHGAP19 stands among ~20K protein-coding genes
  • #10,911of 20,598
    Most Researched35
  • #3,822of 5,498
    Most Pathogenic Variants4
  • #10,078of 17,882
    Most Constrained (LOEUF)1.02
Genes detectedARHGAP19
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy.
PMID: 41086021
J Clin Invest Β· 2025
1.00
2
Identifying the impact of ARHGAP and MAP gene families on autism spectrum disorders.
PMID: 39514479
PLoS One Β· 2024
0.90
3
Phosphorylation of ARHGAP19 by CDK1 and ROCK regulates its subcellular localization and function during mitosis.
PMID: 29420299
J Cell Sci Β· 2018
0.80
4
The RhoGAP ARHGAP19 controls cytokinesis and chromosome segregation in T lymphocytes.
PMID: 24259668
J Cell Sci Β· 2014
0.70
5
Sequence analysis of a human RhoGAP domain-containing gene and characterization of its expression in human multiple tissues.
PMID: 17454002
DNA Seq Β· 2007
0.60