ARHGAP30

Summary

ARHGAP30 (Rho GTPase activating protein 30, HGNC:27414) is a protein-coding gene on chromosome 1q23.3, encoding Rho GTPase-activating protein 30 (Q7Z6I6). GTPase-activating protein (GAP) for RAC1 and RHOA, but not for CDC42.

Enables GTPase activator activity. Involved in negative regulation of Rho protein signal transduction. Located in intracellular membrane-bounded organelle.

Source: NCBI Gene 257106 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 181 total
• MANE Select transcript: NM_001025598

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:27414
Approved symbol	ARHGAP30
Name	Rho GTPase activating protein 30
Location	1q23.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ00267
Ensembl gene	ENSG00000186517
Ensembl biotype	protein_coding
OMIM	614264
Entrez	257106

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 3 protein_coding, 3 nonsense_mediated_decay, 1 retained_intron

ENST00000368013, ENST00000368015, ENST00000368016, ENST00000368018, ENST00000461003, ENST00000471492, ENST00000490279

RefSeq mRNA: 4 — MANE Select: NM_001025598 NM_001025598, NM_001287600, NM_001287602, NM_181720

CCDS: CCDS1215, CCDS30918, CCDS72958

Canonical transcript exons

ENST00000368013 — 12 exons

Exon	Start	End
ENSE00001865076	161046946	161049334
ENSE00002169508	161069528	161069891
ENSE00003478714	161052626	161052797
ENSE00003480811	161054366	161054473
ENSE00003485509	161059614	161059716
ENSE00003492289	161051314	161051715
ENSE00003508910	161053258	161053385
ENSE00003521966	161049424	161049689
ENSE00003556645	161052286	161052363
ENSE00003612950	161056388	161056532
ENSE00003612984	161052440	161052543
ENSE00003615436	161054623	161054705

Expression profiles

Bgee: expression breadth ubiquitous, 253 present calls, max score 98.80.

FANTOM5 (CAGE): breadth broad, TPM avg 11.9025 / max 594.9924, expressed in 529 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
15577	6.5963	416
15576	3.0157	430
15574	1.1458	271
15573	0.7072	208
15578	0.3265	194
15575	0.1110	58

Top tissues by expression

255 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	98.80	gold quality
leukocyte	CL:0000738	98.33	gold quality
monocyte	CL:0000576	98.30	gold quality
blood	UBERON:0000178	97.80	gold quality
tendon of biceps brachii	UBERON:0008188	97.74	gold quality
vermiform appendix	UBERON:0001154	96.09	gold quality
lymph node	UBERON:0000029	95.54	gold quality
spleen	UBERON:0002106	95.52	gold quality
vena cava	UBERON:0004087	94.88	gold quality
caecum	UBERON:0001153	94.43	gold quality
bone marrow cell	CL:0002092	93.59	gold quality
left ventricle myocardium	UBERON:0006566	93.57	gold quality
upper arm skin	UBERON:0004263	93.19	gold quality
kidney epithelium	UBERON:0004819	93.17	gold quality
nasal cavity epithelium	UBERON:0005384	93.17	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	92.99	gold quality
buccal mucosa cell	CL:0002336	92.79	gold quality
myocardium	UBERON:0002349	92.77	gold quality
pancreatic ductal cell	CL:0002079	92.65	silver quality
parotid gland	UBERON:0001831	92.47	gold quality
bone marrow	UBERON:0002371	91.92	gold quality
cardiac muscle of right atrium	UBERON:0003379	91.82	gold quality
medial globus pallidus	UBERON:0002477	91.79	gold quality
ileal mucosa	UBERON:0000331	91.76	gold quality
body of tongue	UBERON:0011876	91.46	gold quality
globus pallidus	UBERON:0001875	91.37	gold quality
superficial temporal artery	UBERON:0001614	91.36	gold quality
thymus	UBERON:0002370	90.69	gold quality
pons	UBERON:0000988	90.31	gold quality
tongue	UBERON:0001723	89.36	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	13.81
E-GEOD-130148	yes	4.47

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

48 targeting ARHGAP30, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-302A-3P	99.89	71.23	1777
HSA-MIR-302B-3P	99.89	71.23	1777
HSA-MIR-302C-3P	99.89	71.20	1778
HSA-MIR-302D-3P	99.89	71.25	1777
HSA-MIR-373-3P	99.84	70.68	1668
HSA-MIR-520E-3P	99.84	70.55	1698
HSA-MIR-372-3P	99.83	70.58	1691
HSA-MIR-520A-3P	99.83	70.59	1687
HSA-MIR-520B-3P	99.83	70.56	1699
HSA-MIR-520C-3P	99.83	70.56	1699
HSA-MIR-520D-3P	99.83	70.78	1676
HSA-MIR-5010-3P	99.83	70.60	2357
HSA-MIR-204-5P	99.79	71.62	2439
HSA-MIR-211-5P	99.79	71.65	2440
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-4428	99.73	66.41	1733
HSA-MIR-4755-5P	99.71	70.34	2716
HSA-MIR-5006-3P	99.71	70.26	2728
HSA-MIR-1915-3P	99.58	66.79	1988
HSA-MIR-5589-3P	99.29	68.30	1443
HSA-MIR-4721	99.26	66.05	818
HSA-MIR-4685-5P	99.25	65.99	1563
HSA-MIR-4292	99.16	65.57	1767
HSA-MIR-6791-5P	99.16	65.92	1844
HSA-MIR-4254	99.11	65.15	1315
HSA-MIR-873-5P	98.84	66.90	1348

Literature-anchored findings (GeneRIF, showing 6)

• A screen for Wrch-1 binding-partners identified the novel RhoGAP protein, ARHGAP30, as a Wrch-1 interactor. (PMID:21565175)
• ArhGAP30 is required for p53 acetylation and functional activation in colorectal cancer.Down-regulation of ArhGAP30 in colorectal cancer is associated with poor survival. (PMID:25156493)
• Potential Prognostic Predictors and Molecular Targets for Skin Melanoma Screened by Weighted Gene Co-expression Network Analysis. (PMID:32416689)
• Overexpression of ARHGAP30 suppresses growth of cervical cancer cells by downregulating ribosome biogenesis. (PMID:34490691)
• Knockdown of ARHGAP30 inhibits ovarian cancer cell proliferation, migration, and invasiveness by suppressing the PI3K/AKT/mTOR signaling pathway. (PMID:37170915)
• KIAA1429 regulates lung adenocarcinoma proliferation and metastasis through the PI3K/AKT pathway by modulating ARHGAP30 expression. (PMID:38717936)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
mus_musculus	Arhgap30	ENSMUSG00000048865
rattus_norvegicus	Arhgap30	ENSRNOG00000004192
drosophila_melanogaster	CdGAPr	FBGN0032821
caenorhabditis_elegans		WBGENE00009800

Paralogs (3): ARHGAP33 (ENSG00000004777), ARHGAP31 (ENSG00000031081), ARHGAP32 (ENSG00000134909)

Protein

Protein identifiers

Rho GTPase-activating protein 30 — Q7Z6I6 (reviewed: Q7Z6I6)

Alternative names: Rho-type GTPase-activating protein 30

All UniProt accessions (6): A0A0A0MRJ8, A0A0A0MRJ9, E9PAN4, E9PLA4, E9PLT5, Q7Z6I6

UniProt curated annotations — full annotation on UniProt →

Function. GTPase-activating protein (GAP) for RAC1 and RHOA, but not for CDC42.

Subunit / interactions. Interacts with RHOU in a GTP-independent manner.

Subcellular location. Cytoplasmic vesicle.

Isoforms (4)

UniProt ID	Names	Canonical?
Q7Z6I6-1	1, L-ARHGAP30, L-30	yes
Q7Z6I6-2	2, S-ARHGAP30, S-30
Q7Z6I6-3	3
Q7Z6I6-4	4

RefSeq proteins (4): NP_001020769, NP_001274529, NP_001274531, NP_859071 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000198	RhoGAP_dom	Domain
IPR008936	Rho_GTPase_activation_prot	Homologous_superfamily
IPR051576	PX-Rho_GAP	Family

Pfam: PF00620

UniProt features (29 total): compositionally biased region 11, region of interest 6, splice variant 4, modified residue 2, sequence variant 2, chain 1, domain 1, site 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7Z6I6-F1	50.85	0.17

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (1): 55 (arginine finger; crucial for gtp hydrolysis by stabilizing the transition state)

Post-translational modifications (2): 576, 996

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-8980692	RHOA GTPase cycle
R-HSA-9013148	CDC42 GTPase cycle
R-HSA-9013149	RAC1 GTPase cycle
R-HSA-9013420	RHOU GTPase cycle

MSigDB gene sets: 181 (showing top): HNF3ALPHA_Q6, PAX4_01, GOBP_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, RACCACAR_AML_Q6, FOXO4_01, GGGTGGRR_PAX4_03, GOBP_NEGATIVE_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, GATA3_01, FREAC3_01, GOBP_NEGATIVE_REGULATION_OF_RHO_PROTEIN_SIGNAL_TRANSDUCTION, HFH8_01, FOXJ2_01, HFH3_01, TGACATY_UNKNOWN

GO Biological Process (4): small GTPase-mediated signal transduction (GO:0007264), negative regulation of Rho protein signal transduction (GO:0035024), regulation of small GTPase mediated signal transduction (GO:0051056), signal transduction (GO:0007165)

GO Molecular Function (2): GTPase activator activity (GO:0005096), protein binding (GO:0005515)

GO Cellular Component (2): cytosol (GO:0005829), cytoplasmic vesicle (GO:0031410)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
RHO GTPase cycle	4

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	2
intracellular signaling cassette	1
Rho protein signal transduction	1
regulation of Rho protein signal transduction	1
negative regulation of small GTPase mediated signal transduction	1
small GTPase-mediated signal transduction	1
regulation of intracellular signal transduction	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
GTPase activity	1
enzyme activator activity	1
GTPase regulator activity	1
binding	1
cellular anatomical structure	1
intracellular vesicle	1

Protein interactions and networks

STRING

1198 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ARHGAP30	RHOU	Q7L0Q8	599
ARHGAP30	KLHDC9	Q8NEP7	583
ARHGAP30	SLAMF8	Q9P0V8	527
ARHGAP30	FAM78A	Q5JUQ0	449
ARHGAP30	GIMAP4	Q9NUV9	442
ARHGAP30	INCA1	Q0VD86	433
ARHGAP30	SNX20	Q7Z614	416
ARHGAP30	SASH3	O75995	414
ARHGAP30	SLAMF9	Q96A28	367
ARHGAP30	AP1G1	O43747	363
ARHGAP30	PSMC6	P49719	349
ARHGAP30	SH3BP4	Q9P0V3	347
ARHGAP30	LEO1	Q8WVC0	345
ARHGAP30	ARHGEF37	A1IGU5	343
ARHGAP30	JAML	Q86YT9	336

IntAct

9 interactions, top by confidence:

A	B	Type	Score
ARHGAP30	RHOU	psi-mi:“MI:0915”(physical association)	0.510
ARHGAP30	H2BC21	psi-mi:“MI:0915”(physical association)	0.400
DOCK7	CKB	psi-mi:“MI:0914”(association)	0.350
RHOG	COPE	psi-mi:“MI:0914”(association)	0.350
gatB	ARHGAP30	psi-mi:“MI:0915”(physical association)	0.000
	ARHGAP30	psi-mi:“MI:0915”(physical association)	0.000
lysS	ARHGAP30	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (13): ARHGAP30 (Affinity Capture-RNA), ARHGAP30 (Affinity Capture-MS), ARHGAP30 (Proximity Label-MS), DOCK7 (Affinity Capture-Western), ARHGAP30 (Affinity Capture-MS), ARHGAP30 (Affinity Capture-RNA), U2SURP (Cross-Linking-MS (XL-MS)), M6PR (Cross-Linking-MS (XL-MS)), ARHGAP30 (Co-fractionation), ARHGAP30 (Co-fractionation), ARHGAP30 (Co-fractionation), ARHGAP30 (Co-fractionation), ARHGAP30 (Affinity Capture-RNA)

ESM2 similar proteins: A0A8I5ZN27, A6X8Z5, E1AZ71, F1N8V3, O35668, O54963, O70318, P20689, P48165, P51954, P54256, P54257, P55917, P62025, P70278, Q01538, Q13029, Q13127, Q14028, Q16799, Q28139, Q28181, Q2M1Z3, Q3SYS4, Q3UH66, Q4KMM3, Q4V8B0, Q5DW34, Q5IS59, Q5TCY1, Q62100, Q63HN8, Q640N3, Q64548, Q6IR42, Q6PCN3, Q7Z6I6, Q811Q2, Q8BYM7, Q8C5W0

Diamond homologs: A0A0G2JTR4, A1A4S6, A2AB59, A2RUV4, A4IF90, A4II46, A6QNS3, A6X8Z5, A7KAX9, A7YY57, A8WRJ2, D3ZFJ3, E7EZG2, E7F3F0, F1LXF1, O14559, O94466, P11274, P15882, P30337, P34288, P38339, P46941, P52757, P55194, P81128, P97393, Q03070, Q08DP6, Q10164, Q12979, Q13017, Q15311, Q17QN0, Q20498, Q2M1Z3, Q3TBD2, Q3UIA2, Q52LW3, Q53QZ3

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
ARHGAP30	“down-regulates activity”	RHOA	“gtpase-activating protein”
ARHGAP30	“down-regulates activity”	RAC1	“gtpase-activating protein”
ARHGAP30	“down-regulates activity”	CDC42	“gtpase-activating protein”

Disease & clinical

Clinical variants and AI predictions

ClinVar

181 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	154
Likely benign	8
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2078 predictions. Top by Δscore:

Variant	Effect	Δscore
1:161049201:T:TA	donor_gain	1.0000
1:161049216:T:TA	donor_gain	1.0000
1:161049596:T:TA	donor_gain	1.0000
1:161052278:ATACT:A	donor_loss	1.0000
1:161052281:CTCA:C	donor_loss	1.0000
1:161052282:TCA:T	donor_loss	1.0000
1:161052283:CAC:C	donor_loss	1.0000
1:161052284:A:AC	donor_gain	1.0000
1:161052284:AC:A	donor_gain	1.0000
1:161052285:C:CA	donor_gain	1.0000
1:161052285:CC:C	donor_gain	1.0000
1:161052285:CCAT:C	donor_gain	1.0000
1:161052359:ATCCT:A	acceptor_gain	1.0000
1:161052360:TCCT:T	acceptor_gain	1.0000
1:161052361:CCTC:C	acceptor_gain	1.0000
1:161052362:CT:C	acceptor_gain	1.0000
1:161052363:TC:T	acceptor_loss	1.0000
1:161052364:C:CC	acceptor_gain	1.0000
1:161052364:CTGTA:C	acceptor_loss	1.0000
1:161052365:T:C	acceptor_loss	1.0000
1:161052624:A:AC	donor_gain	1.0000
1:161052625:C:CC	donor_gain	1.0000
1:161054362:CTAC:C	donor_loss	1.0000
1:161054364:A:AC	donor_gain	1.0000
1:161054365:C:CC	donor_gain	1.0000
1:161054474:C:CC	acceptor_gain	1.0000
1:161054475:T:A	acceptor_loss	1.0000
1:161054618:CATA:C	donor_loss	1.0000
1:161054619:ATACC:A	donor_loss	1.0000
1:161054620:TA:T	donor_loss	1.0000

AlphaMissense

7126 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:161054369:A:G	L178P	1.000
1:161054372:A:G	L177P	1.000
1:161054374:G:C	N176K	1.000
1:161054374:G:T	N176K	1.000
1:161054378:G:T	P175H	1.000
1:161054385:A:G	W173R	1.000
1:161054385:A:T	W173R	1.000
1:161054390:A:T	I171N	1.000
1:161054393:G:T	A170D	1.000
1:161054396:A:G	L169P	1.000
1:161054398:G:C	N168K	1.000
1:161054398:G:T	N168K	1.000
1:161056448:C:A	K95N	1.000
1:161056448:C:G	K95N	1.000
1:161056450:T:C	K95E	1.000
1:161056464:A:T	V90D	1.000
1:161056476:T:A	D86V	1.000
1:161056476:T:G	D86A	1.000
1:161056477:C:G	D86H	1.000
1:161059641:C:T	G58E	1.000
1:161059642:C:A	G58W	1.000
1:161059659:C:T	G52E	1.000
1:161059660:C:A	G52W	1.000
1:161052515:A:G	W289R	0.999
1:161052515:A:T	W289R	0.999
1:161053299:A:G	L208P	0.999
1:161053304:G:C	F206L	0.999
1:161053304:G:T	F206L	0.999
1:161053305:A:G	F206S	0.999
1:161053306:A:G	F206L	0.999

dbSNP variants (sampled 300 via entrez): RS1000081495 (1:161050291 G>A), RS1000122296 (1:161057436 A>G), RS1000201810 (1:161060323 C>T), RS1000337060 (1:161060643 T>C,G), RS1000396299 (1:161051090 A>G), RS1000536123 (1:161058421 G>A), RS1000687253 (1:161051597 C>A,T), RS1000699512 (1:161055973 G>A,C), RS1000756283 (1:161053211 T>C), RS1000821332 (1:161057314 C>G,T), RS1000994128 (1:161050285 G>A,T), RS1001069849 (1:161071389 A>G), RS1001102062 (1:161064560 A>G), RS1001168478 (1:161053990 C>T), RS1001212985 (1:161061805 T>C)

Disease associations

OMIM: gene MIM:614264 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST001725_36	Inflammatory bowel disease	7.000000e-09
GCST003542_114	Night sleep phenotypes	7.000000e-06
GCST003542_135	Night sleep phenotypes	4.000000e-06
GCST90002393_159	Monocyte count	2.000000e-22
GCST90002394_86	Monocyte percentage of white cells	1.000000e-12

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0005091	monocyte count
EFO:0007989	monocyte percentage of leukocytes

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

25 total (human), top 25 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases expression	2
Air Pollutants	affects expression, increases abundance, increases expression	2
Benzo(a)pyrene	increases expression, increases methylation	2
Cisplatin	increases expression	2
Nickel	increases expression	2
Valproic Acid	increases expression, increases methylation	2
dimethylselenide	increases expression, increases oxidation, decreases expression	1
ferrous chloride	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
CGP 52608	affects binding, increases reaction	1
Leflunomide	increases expression	1
Cadmium	decreases expression	1
Calcitriol	decreases expression	1
Curcumin	decreases expression	1
Lead	decreases expression	1
Ozone	affects expression, increases abundance	1
Testosterone	decreases expression	1
Tobacco Smoke Pollution	affects expression	1
Tretinoin	increases expression	1
Reactive Oxygen Species	decreases expression, increases expression, increases oxidation	1
Antirheumatic Agents	decreases expression	1
Cadmium Chloride	decreases expression	1
Okadaic Acid	increases expression	1
Particulate Matter	increases expression, increases abundance	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.