RHOQ

Summary

RHOQ (ras homolog family member Q, HGNC:17736) is a protein-coding gene on chromosome 2p21, encoding Rho-related GTP-binding protein RhoQ (P17081). Plasma membrane-associated small GTPase which cycles between an active GTP-bound and an inactive GDP-bound state. It is a selective cancer dependency (DepMap: 89.2% of cell lines).

This gene encodes a member of the Rho family of small GTPases, which cycle between inactive GDP-bound and active GTP-bound states and function as molecular switches in signal transduction cascades. Rho proteins promote reorganization of the actin cytoskeleton and regulate cell shape, attachment, and motility. The encoded protein is an important signalling protein for sarcomere assembly and has been shown to play a significant role in the exocytosis of the solute carrier family 2, facilitated glucose transporter member 4 and other proteins, possibly acting as the signal that turns on the membrane fusion machinery. Three related pseudogene have been identified on chromosomes 2 and 14.

Source: NCBI Gene 23433 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 14 total
• Druggable target: yes
• Cancer dependency (DepMap): dependent in 89.2% of screened cell lines
• MANE Select transcript: NM_012249

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17736
Approved symbol	RHOQ
Name	ras homolog family member Q
Location	2p21
Locus type	gene with protein product
Status	Approved
Aliases	TC10
Ensembl gene	ENSG00000119729
Ensembl biotype	protein_coding
OMIM	605857
Entrez	23433

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 4 protein_coding, 3 nonsense_mediated_decay, 2 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000238738, ENST00000432183, ENST00000465198, ENST00000473428, ENST00000482449, ENST00000489448, ENST00000489471, ENST00000494370, ENST00000902923, ENST00000945010

RefSeq mRNA: 1 — MANE Select: NM_012249 NM_012249

CCDS: CCDS33191

Canonical transcript exons

ENST00000238738 — 5 exons

Exon	Start	End
ENSE00000809801	46542490	46543188
ENSE00000809802	46543754	46543812
ENSE00001314285	46580928	46584688
ENSE00003651279	46576087	46576251
ENSE00003785058	46576561	46576656

Expression profiles

Bgee: expression breadth ubiquitous, 287 present calls, max score 99.38.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.4666 / max 64.9964, expressed in 1702 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
20093	2.6008	1163
20094	2.0921	1307
20095	0.5328	295
202182	0.4522	271
20091	0.3577	154
20092	0.2399	94
20096	0.1052	40
202181	0.0860	19

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left ventricle myocardium	UBERON:0006566	99.38	gold quality
heart right ventricle	UBERON:0002080	99.23	gold quality
calcaneal tendon	UBERON:0003701	99.17	gold quality
myocardium	UBERON:0002349	98.63	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	98.61	gold quality
biceps brachii	UBERON:0001507	98.56	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	98.47	gold quality
vastus lateralis	UBERON:0001379	98.34	gold quality
diaphragm	UBERON:0001103	98.22	gold quality
cardiac muscle of right atrium	UBERON:0003379	98.15	gold quality
cardiac ventricle	UBERON:0002082	98.10	gold quality
heart left ventricle	UBERON:0002084	98.08	gold quality
skeletal muscle tissue	UBERON:0001134	98.02	gold quality
choroid plexus epithelium	UBERON:0003911	97.97	gold quality
quadriceps femoris	UBERON:0001377	97.76	gold quality
hindlimb stylopod muscle	UBERON:0004252	97.74	gold quality
muscle tissue	UBERON:0002385	97.66	gold quality
muscle organ	UBERON:0001630	97.64	gold quality
skeletal muscle organ	UBERON:0014892	97.64	gold quality
heart	UBERON:0000948	97.59	gold quality
adipose tissue	UBERON:0001013	97.57	gold quality
deltoid	UBERON:0001476	97.57	gold quality
muscle of leg	UBERON:0001383	97.54	gold quality
popliteal artery	UBERON:0002250	97.47	gold quality
tibial artery	UBERON:0007610	97.47	gold quality
decidua	UBERON:0002450	97.45	gold quality
monocyte	CL:0000576	97.43	gold quality
gastrocnemius	UBERON:0001388	97.39	gold quality
corpus epididymis	UBERON:0004359	97.39	gold quality
tibialis anterior	UBERON:0001385	97.33	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-MTAB-9221	yes	26.10
E-ANND-3	yes	17.39

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): GDNF

miRNA regulators (miRDB)

289 targeting RHOQ, 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-9-5P	100.00	72.28	2361
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-3689D	100.00	66.14	1181
HSA-MIR-6851-5P	100.00	65.63	1294
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-433-3P	99.98	69.37	1203
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-493-5P	99.96	72.47	2382

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 89.2% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 10)

• The exocyst complex is required for targeting of Glut4 to the plasma membrane by insulin (PMID:12687004)
• Overexpression of the Rho family member TC10alpha, disrupts adipocyte cortical actin structure and inhibits insulin-stimulated GLUT4 translocation (PMID:12972548)
• The GTP-bound form of TC10 directs the trafficking of CFTR from the juxtanuclear region to the secretory pathway toward the plasma membrane (PMID:15546864)
• The crystal structure of TC10 proved that the basic region of WASp and two unique glutamates in Cdc42 generate favorable electrostatic steering forces that control the accelerated WASp-Cdc42 association reaction. (PMID:16246732)
• We propose that an EGF-stimulated GAP accelerates GTP hydrolysis of TC10, thereby promoting vesicle fusion. (PMID:16950130)
• These findings reveal a novel signaling pathway in human skeletal muscle that involves obscurin and the Rho GTPase TC10 and implicate this pathway in new sarcomere formation. (PMID:19258391)
• Exocytosis of Rab11- and L1-positive vesicles may play a central role in TC10-mediated neurite outgrowth (PMID:24223996)
• The enhancement of Cb-induced gephyrin clustering by GTP-TC10 does not depend on the guanine nucleotide exchange activity of Cb but involves an interaction that resembles reported interactions of other small GTPases with their effectors (PMID:24297911)
• Novel tumor-associated increase of RNA editing in ras homologue family member Q (RHOQ) transcripts, is reported. (PMID:24663214)
• RHOQ is induced by DLL4 and regulates angiogenesis by determining the intracellular route of the Notch intracellular domain. (PMID:32506201)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	rhoq	ENSDARG00000025953
mus_musculus	Rhoq	ENSMUSG00000024143
rattus_norvegicus		ENSRNOG00000083467

Paralogs (22): RHOBTB2 (ENSG00000008853), RHOA (ENSG00000067560), CDC42 (ENSG00000070831), RHOBTB1 (ENSG00000072422), RHOV (ENSG00000104140), RND2 (ENSG00000108830), RND3 (ENSG00000115963), RHOU (ENSG00000116574), RHOJ (ENSG00000126785), RHOT1 (ENSG00000126858), RAC2 (ENSG00000128340), RAC1 (ENSG00000136238), RHOF (ENSG00000139725), RHOT2 (ENSG00000140983), RHOB (ENSG00000143878), RHOC (ENSG00000155366), RHOBTB3 (ENSG00000164292), RHOH (ENSG00000168421), RAC3 (ENSG00000169750), RND1 (ENSG00000172602), RHOD (ENSG00000173156), RHOG (ENSG00000177105)

Protein

Protein identifiers

Rho-related GTP-binding protein RhoQ — P17081 (reviewed: P17081)

Alternative names: Ras-like protein TC10, Ras-like protein family member 7A

All UniProt accessions (6): P17081, E5RFZ3, F8WET9, H0YB40, H0YB93, V9HWD0

UniProt curated annotations — full annotation on UniProt →

Function. Plasma membrane-associated small GTPase which cycles between an active GTP-bound and an inactive GDP-bound state. In active state binds to a variety of effector proteins to regulate cellular responses. Involved in epithelial cell polarization processes. May play a role in CFTR trafficking to the plasma membrane. Causes the formation of thin, actin-rich surface projections called filopodia.

Subunit / interactions. Interacts with CDC42EP4 in a GTP-dependent manner. Interacts with ARHGAP33/TCGAP. Interacts with CDC42EP1, CDC42EP2, CDC42EP3, PARD6A, PARD6G (and probably PARD6B) in a GTP-dependent manner. Part of a quaternary complex containing PARD3, some PARD6 protein (PARD6A, PARD6B or PARD6G) and some atypical PKC protein (PRKCI or PRKCZ). Interacts with EXO70 in a GTP-dependent manner. Interacts with GOPC.

Subcellular location. Cytoplasm. Cell membrane.

Post-translational modifications. May be post-translationally modified by both palmitoylation and polyisoprenylation.

Activity regulation. Regulated by guanine nucleotide exchange factors (GEFs) which promote the exchange of bound GDP for free GTP, GTPase activating proteins (GAPs) which increase the GTP hydrolysis activity, and GDP dissociation inhibitors which inhibit the dissociation of the nucleotide from the GTPase.

Similarity. Belongs to the small GTPase superfamily. Rho family.

RefSeq proteins (1): NP_036381* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001806	Small_GTPase	Family
IPR003578	Small_GTPase_Rho	Family
IPR005225	Small_GTP-bd	Domain
IPR027417	P-loop_NTPase	Homologous_superfamily

Pfam: PF00071

UniProt features (28 total): strand 7, helix 7, mutagenesis site 3, turn 3, binding site 3, chain 1, propeptide 1, short sequence motif 1, modified residue 1, lipid moiety-binding region 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2ATX	X-RAY DIFFRACTION	2.65

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P17081-F1	89.35	0.80

Functional residue map

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

Ligand- & substrate-binding residues (3): 16–23; 63–67; 121–124

Post-translational modifications (2): 202, 202

Mutagenesis-validated functional residues (3):

Position	Phenotype
67	constitutively active. interacts with pard6 proteins and gopc.
23	loss of interaction with gopc.
44	loss of interaction with gopc.

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-1445148	Translocation of SLC2A4 (GLUT4) to the plasma membrane
R-HSA-5627083	RHO GTPases regulate CFTR trafficking
R-HSA-9013406	RHOQ GTPase cycle

MSigDB gene sets: 472 (showing top): GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_CARBOHYDRATE_TRANSPORT, GOBP_REGULATION_OF_CELL_MORPHOGENESIS, GOBP_ESTABLISHMENT_OR_MAINTENANCE_OF_CELL_POLARITY, GOZGIT_ESR1_TARGETS_DN, MORI_IMMATURE_B_LYMPHOCYTE_UP, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, TGACCTY_ERR1_Q2, GOBP_VESICLE_MEDIATED_TRANSPORT, TACAATC_MIR508, REACTOME_MEMBRANE_TRAFFICKING, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_LOCALIZATION

GO Biological Process (16): endocytosis (GO:0006897), actin filament organization (GO:0007015), signal transduction (GO:0007165), small GTPase-mediated signal transduction (GO:0007264), insulin receptor signaling pathway (GO:0008286), regulation of cell shape (GO:0008360), establishment of cell polarity (GO:0030010), cortical actin cytoskeleton organization (GO:0030866), cellular response to insulin stimulus (GO:0032869), regulation of actin cytoskeleton organization (GO:0032956), positive regulation of transcription by RNA polymerase II (GO:0045944), GTP metabolic process (GO:0046039), positive regulation of D-glucose import across plasma membrane (GO:0046326), positive regulation of filopodium assembly (GO:0051491), negative regulation of protein localization to plasma membrane (GO:1903077), actin cytoskeleton organization (GO:0030036)

GO Molecular Function (7): GTPase activity (GO:0003924), profilin binding (GO:0005522), GTP binding (GO:0005525), protein kinase binding (GO:0019901), GBD domain binding (GO:0032427), nucleotide binding (GO:0000166), protein binding (GO:0005515)

GO Cellular Component (7): actin filament (GO:0005884), plasma membrane (GO:0005886), Golgi-associated vesicle membrane (GO:0030660), membrane raft (GO:0045121), extracellular exosome (GO:0070062), cytoplasm (GO:0005737), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Membrane Trafficking	1
RHO GTPase Effectors	1
RHO GTPase cycle	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
actin cytoskeleton organization	3
cellular anatomical structure	2
vesicle budding from membrane	1
membrane invagination	1
vesicle-mediated transport	1
import into cell	1
supramolecular fiber organization	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
intracellular signaling cassette	1
cell surface receptor protein tyrosine kinase signaling pathway	1
cellular response to insulin stimulus	1
regulation of cell morphogenesis	1
regulation of biological quality	1
establishment or maintenance of cell polarity	1
cortical cytoskeleton organization	1
response to insulin	1
cellular response to peptide hormone stimulus	1
regulation of actin filament-based process	1
regulation of cytoskeleton organization	1
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
positive regulation of DNA-templated transcription	1
purine ribonucleotide metabolic process	1
purine ribonucleoside triphosphate metabolic process	1
positive regulation of D-glucose transmembrane transport	1
regulation of D-glucose import across plasma membrane	1
D-glucose import across plasma membrane	1
filopodium assembly	1
regulation of filopodium assembly	1
positive regulation of plasma membrane bounded cell projection assembly	1
protein localization to plasma membrane	1
regulation of protein localization to plasma membrane	1
negative regulation of protein localization to cell periphery	1
negative regulation of protein localization to membrane	1
cytoskeleton organization	1
actin filament-based process	1

Protein interactions and networks

STRING

3238 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RHOQ	GOPC	Q9HD26	989
RHOQ	EXOC7	Q9UPT5	989
RHOQ	CDC42EP3	Q9UKI2	954
RHOQ	CDC42EP4	Q9H3Q1	951
RHOQ	EXOC4	Q96A65	914
RHOQ	EXOC3	O60645	902
RHOQ	CDC42EP2	O14613	887
RHOQ	CDC42EP5	Q6NZY7	843
RHOQ	RAPGEF1	Q13905	840
RHOQ	CRK	P46108	818
RHOQ	CDC42EP1	Q00587	810
RHOQ	SLC2A4	P14672	806
RHOQ	DOCK8	Q8NF50	769
RHOQ	ARF3	P16587	718
RHOQ	WAS	P42768	676

IntAct

24 interactions, top by confidence:

A	B	Type	Score
PARD6B	RHOQ	psi-mi:“MI:0915”(physical association)	0.560
MORN4	RHOQ	psi-mi:“MI:0915”(physical association)	0.560
NTAQ1	RHOQ	psi-mi:“MI:0915”(physical association)	0.560
RHOQ	ZNF417	psi-mi:“MI:0915”(physical association)	0.560
RHOQ	NTAQ1	psi-mi:“MI:0915”(physical association)	0.560
RHOQ	BANP	psi-mi:“MI:0915”(physical association)	0.560
RHOQ	PARD6B	psi-mi:“MI:0915”(physical association)	0.560
RHOQ	MORN4	psi-mi:“MI:0915”(physical association)	0.560
RHOQ	PACSIN2	psi-mi:“MI:0915”(physical association)	0.400
WAS	RHOQ	psi-mi:“MI:0915”(physical association)	0.400
RHOQ	PAK1	psi-mi:“MI:0915”(physical association)	0.400
CDC42BPA	RHOQ	psi-mi:“MI:0915”(physical association)	0.400
CDC42BPG	RHOQ	psi-mi:“MI:0915”(physical association)	0.400
TRIP6	RHOQ	psi-mi:“MI:0915”(physical association)	0.370
FADD	NUP42	psi-mi:“MI:0914”(association)	0.350
SLC26A4	UPK3BL1	psi-mi:“MI:0914”(association)	0.350
ZNF417	RHOQ	psi-mi:“MI:0915”(physical association)	0.000
BANP	RHOQ	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (452): RHOQ (Two-hybrid), GOPC (Two-hybrid), RHOQ (Affinity Capture-MS), RHOQ (Reconstituted Complex), RHOQ (Affinity Capture-Western), RHOQ (Affinity Capture-MS), PARD6B (Two-hybrid), WDYHV1 (Two-hybrid), MORN4 (Two-hybrid), BANP (Two-hybrid), ZNF417 (Two-hybrid), PARD6B (Two-hybrid), RHOQ (Reconstituted Complex), TRIP10 (Two-hybrid), TRIP10 (Affinity Capture-Western)

ESM2 similar proteins: A0A286QZ36, C4YDI6, O04369, O42825, O88931, P0CY33, P15153, P17081, P19073, P34144, P34145, P34146, P34148, P34149, P40793, P48554, P60766, P60952, P60953, P62745, P62746, P62747, Q007T2, Q01112, Q03206, Q05062, Q05144, Q09914, Q16YG0, Q17031, Q24814, Q29HY3, Q2KJ93, Q38903, Q38912, Q38919, Q3ZBW5, Q40220, Q41253, Q41254

Diamond homologs: A0A286QZ36, A5D7J5, C4YDI6, O04369, O76321, O82480, O82481, O88931, O94103, O96390, P01122, P08134, P0CY33, P15153, P17081, P19073, P24406, P34144, P34145, P34146, P34147, P34148, P34149, P34150, P40792, P40793, P48148, P48554, P60763, P60764, P60766, P60952, P60953, P61585, P61586, P61589, P62998, P62999, P63000, P63001

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
INS	up-regulates	RHOQ
RHOQ	up-regulates	EXOC7	binding
RHOQ	up-regulates	SLC2A4
GDNF	“up-regulates quantity by expression”	RHOQ	“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	10
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1594 predictions. Top by Δscore:

Variant	Effect	Δscore
2:46543185:GCAG:G	donor_gain	1.0000
2:46543187:AGGT:A	donor_loss	1.0000
2:46543189:G:GG	donor_gain	1.0000
2:46543189:GTA:G	donor_loss	1.0000
2:46543809:ACAGG:A	donor_loss	1.0000
2:46543810:CAGG:C	donor_loss	1.0000
2:46543811:AGGT:A	donor_loss	1.0000
2:46543813:GTG:G	donor_loss	1.0000
2:46543814:T:A	donor_loss	1.0000
2:46576210:G:GT	donor_gain	1.0000
2:46543184:CGCAG:C	donor_gain	0.9900
2:46543185:GCAGG:G	donor_gain	0.9900
2:46543186:CAG:C	donor_gain	0.9900
2:46543187:AG:A	donor_gain	0.9900
2:46543188:GG:G	donor_gain	0.9900
2:46543190:T:G	donor_loss	0.9900
2:46543752:A:AG	acceptor_gain	0.9900
2:46543753:G:GC	acceptor_gain	0.9900
2:46543753:GTC:G	acceptor_gain	0.9900
2:46543753:GTCA:G	acceptor_gain	0.9900
2:46545054:G:C	acceptor_gain	0.9900
2:46576081:CCTCA:C	acceptor_loss	0.9900
2:46576082:CTCAG:C	acceptor_loss	0.9900
2:46576083:TCAGG:T	acceptor_loss	0.9900
2:46576085:A:AG	acceptor_gain	0.9900
2:46576085:A:T	acceptor_loss	0.9900
2:46576086:G:GG	acceptor_gain	0.9900
2:46576086:GGAA:G	acceptor_gain	0.9900
2:46576155:G:GA	donor_gain	0.9900
2:46576186:GAGGA:G	donor_gain	0.9900

AlphaMissense

1325 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:46543092:G:C	G16R	1.000
2:46543107:G:C	G21R	1.000
2:46543146:T:C	F34L	1.000
2:46543148:C:A	F34L	1.000
2:46543148:C:G	F34L	1.000
2:46543798:G:C	D63H	1.000
2:46543799:A:C	D63A	1.000
2:46543799:A:G	D63G	1.000
2:46543799:A:T	D63V	1.000
2:46576106:G:T	R74M	1.000
2:46576146:C:G	C87W	1.000
2:46576192:T:A	W103R	1.000
2:46576192:T:C	W103R	1.000
2:46543092:G:T	G16C	0.999
2:46543093:G:A	G16D	0.999
2:46543093:G:T	G16V	0.999
2:46543107:G:T	G21C	0.999
2:46543108:G:A	G21D	0.999
2:46543108:G:T	G21V	0.999
2:46543110:A:C	K22Q	0.999
2:46543111:A:T	K22M	0.999
2:46543112:G:C	K22N	0.999
2:46543112:G:T	K22N	0.999
2:46543114:C:T	T23M	0.999
2:46543120:T:C	L25P	0.999
2:46543158:T:C	Y38H	0.999
2:46543173:T:C	F43L	0.999
2:46543175:C:A	F43L	0.999
2:46543175:C:G	F43L	0.999
2:46543798:G:T	D63Y	0.999

dbSNP variants (sampled 300 via entrez): RS1000017881 (2:46575432 C>G,T), RS1000116466 (2:46564411 TCTC>T), RS1000142917 (2:46549401 G>A,T), RS1000224289 (2:46572028 T>C), RS1000311877 (2:46569970 C>G), RS1000334619 (2:46566009 A>C), RS1000412143 (2:46558982 C>G), RS1000440154 (2:46560612 C>A,T), RS1000489529 (2:46575874 A>C), RS1000589032 (2:46544673 T>C), RS1000603724 (2:46568768 C>G,T), RS1000683513 (2:46570228 C>A,T), RS1000747184 (2:46578500 G>C), RS1000749418 (2:46574815 A>G,T), RS1000787499 (2:46566261 G>A)

Disease associations

OMIM: gene MIM:605857 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST010697_51	Cortical surface area (min-P)	4.000000e-12
GCST010698_64	Subcortical volume (min-P)	3.000000e-09
GCST010699_93	Brain morphology (min-P)	1.000000e-12
GCST010700_22	Cortical thickness (MOSTest)	9.000000e-11
GCST010701_108	Cortical surface area (MOSTest)	4.000000e-12
GCST010702_134	Subcortical volume (MOSTest)	2.000000e-14
GCST010703_146	Brain morphology (MOSTest)	5.000000e-08

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004346	neuroimaging measurement
EFO:0004840	cortical thickness

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4295721 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

50 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression, decreases methylation	9
methylmercuric chloride	affects cotreatment, increases expression	4
Cyclosporine	decreases expression, increases expression	4
bisphenol A	affects expression, decreases expression, increases expression, increases methylation	3
trichostatin A	increases expression, affects cotreatment	3
sodium arsenite	decreases expression, increases expression	2
entinostat	increases expression, affects cotreatment	2
Resveratrol	affects cotreatment, decreases expression, increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression, increases expression	2
aristolochic acid I	decreases expression	1
GSK-J4	increases expression	1
triphenyl phosphate	affects expression	1
butyraldehyde	decreases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, decreases expression	1
isobutyl alcohol	affects cotreatment, decreases expression, increases abundance	1
diallyl trisulfide	decreases expression	1
tamibarotene	affects expression	1
gadodiamide	increases expression	1
di-n-butylphosphoric acid	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, affects cotreatment	1
ICG 001	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
jinfukang	affects cotreatment, increases expression	1
Sunitinib	increases expression	1
Arsenic Trioxide	increases expression	1
Acetaminophen	increases expression	1
Arsenic	increases methylation	1
Carbamazepine	affects expression	1
Cisplatin	affects cotreatment, increases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL4270849	Binding	Binding affinity to rho-related GTP-binding protein in human Hela cells lysates assessed as protein enrichment by measuring normalized heavy/light ratio at by nano-LC-ESIMS/MS analysis	Determination of Gymnemic Acid I as a Protein Biosynthesis Inhibitor Using Chemical Proteomics. — J Nat Prod

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_KU01	HeLa SilenciX RHOQ	Cancer cell line	Female

Clinical trials (associated diseases)

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