ARHGAP19

Summary

ARHGAP19 (Rho GTPase activating protein 19, HGNC:23724) is a protein-coding gene on chromosome 10q24.1, encoding Rho GTPase-activating protein 19 (Q14CB8). GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state.

Members of the ARHGAP family, such as ARHGAP19, encode negative regulators of Rho GTPases (see RHOA; MIM 165390), which are involved in cell migration, proliferation, and differentiation, actin remodeling, and G1 cell cycle progression (Lv et al., 2007 [PubMed 17454002]).

Source: NCBI Gene 84986 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 75 total — 3 pathogenic, 1 likely-pathogenic
• Phenotypes (HPO): 54
• MANE Select transcript: NM_032900

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23724
Approved symbol	ARHGAP19
Name	Rho GTPase activating protein 19
Location	10q24.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ00194, MGC14258
Ensembl gene	ENSG00000213390
Ensembl biotype	protein_coding
OMIM	611587
Entrez	84986

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 13 protein_coding, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay, 1 retained_intron

ENST00000358308, ENST00000358531, ENST00000371027, ENST00000466484, ENST00000487035, ENST00000492211, ENST00000493068, ENST00000906073, ENST00000906074, ENST00000906075, ENST00000911351, ENST00000911352, ENST00000911353, ENST00000911354, ENST00000911355, ENST00000911356

RefSeq mRNA: 3 — MANE Select: NM_032900 NM_001204300, NM_001256423, NM_032900

CCDS: CCDS58092, CCDS73175, CCDS7454

Canonical transcript exons

ENST00000358531 — 12 exons

Exon	Start	End
ENSE00003478523	97264826	97264906
ENSE00003530663	97229764	97229874
ENSE00003551419	97235217	97235315
ENSE00003556486	97259402	97259628
ENSE00003588473	97243968	97244159
ENSE00003598233	97292572	97292637
ENSE00003609912	97222179	97226132
ENSE00003611433	97229147	97229225
ENSE00003614444	97256318	97256404
ENSE00003621482	97265860	97266125
ENSE00003631917	97263420	97263629
ENSE00003638219	97246272	97246337

Expression profiles

Bgee: expression breadth ubiquitous, 243 present calls, max score 95.01.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.2039 / max 28.0524, expressed in 66 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
110920	11.9009	1691
110919	0.2039	66

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
trigeminal ganglion	UBERON:0001675	95.01	gold quality
olfactory bulb	UBERON:0002264	94.12	gold quality
secondary oocyte	CL:0000655	91.96	gold quality
tibial nerve	UBERON:0001323	91.92	gold quality
dorsal root ganglion	UBERON:0000044	91.83	gold quality
oocyte	CL:0000023	91.49	gold quality
renal glomerulus	UBERON:0000074	91.33	gold quality
metanephric glomerulus	UBERON:0004736	90.75	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	88.97	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	88.23	gold quality
ventricular zone	UBERON:0003053	87.28	gold quality
bone marrow	UBERON:0002371	86.17	gold quality
trabecular bone tissue	UBERON:0002483	85.99	gold quality
ganglionic eminence	UBERON:0004023	83.70	gold quality
hair follicle	UBERON:0002073	83.43	silver quality
blood	UBERON:0000178	83.42	gold quality
testis	UBERON:0000473	83.32	gold quality
monocyte	CL:0000576	83.26	gold quality
leukocyte	CL:0000738	83.17	gold quality
mononuclear cell	CL:0000842	83.17	gold quality
right testis	UBERON:0004534	83.01	gold quality
bone marrow cell	CL:0002092	82.71	gold quality
left testis	UBERON:0004533	82.37	gold quality
metanephros	UBERON:0000081	82.36	gold quality
embryo	UBERON:0000922	81.68	gold quality
spleen	UBERON:0002106	81.56	gold quality
sural nerve	UBERON:0015488	80.98	gold quality
tonsil	UBERON:0002372	80.89	gold quality
kidney epithelium	UBERON:0004819	80.89	gold quality
lymph node	UBERON:0000029	80.69	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.90

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

167 targeting ARHGAP19, 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-7110-3P	100.00	73.18	2486
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-188-3P	100.00	68.76	1240
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-4745-5P	99.98	65.95	1028
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505

Literature-anchored findings (GeneRIF, showing 4)

• sequence analysis of the ARHGAP19 gene and its genomic structure, expression profile and sub-cellular localization (PMID:17454002)
• The docking of 14-3-3 proteins to phosphorylated S422 protects ARHGAP19 from dephosphorylation of the threonine sites and prevents ARHGAP19 from relocating to the plasma membrane during prophase and metaphase, thus allowing RhoA to become activated (PMID:29420299)
• Regulation of ARHGAP19 in the endometrial epithelium: a possible role in the establishment of uterine receptivity. (PMID:33407571)
• MicroRNA-192-5p inhibits migration of triple negative breast cancer cells and directly regulates Rho GTPase activating protein 19. (PMID:34296808)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	arhgap19	ENSDARG00000083189
mus_musculus	Arhgap19	ENSMUSG00000025154
rattus_norvegicus	Arhgap19	ENSRNOG00000048166
drosophila_melanogaster	RhoGAP54D	FBGN0034249

Paralogs (3): ARHGAP28 (ENSG00000088756), ARHGAP40 (ENSG00000124143), ARHGAP18 (ENSG00000146376)

Protein

Protein identifiers

Rho GTPase-activating protein 19 — Q14CB8 (reviewed: Q14CB8)

Alternative names: Rho-type GTPase-activating protein 19

All UniProt accessions (3): Q14CB8, R4GMS4, R4GNI4

UniProt curated annotations — full annotation on UniProt →

Function. GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state.

Subcellular location. Nucleus.

Tissue specificity. Strong expression in fetal heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. Weak expression in adult pancreas, spleen, thymus, and ovary.

Isoforms (7)

UniProt ID	Names	Canonical?
Q14CB8-1	1	yes
Q14CB8-2	2
Q14CB8-3	3
Q14CB8-4	4
Q14CB8-5	5
Q14CB8-6	6
Q14CB8-7	7

RefSeq proteins (3): NP_001191229, NP_001243352, NP_116289* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000198	RhoGAP_dom	Domain
IPR008936	Rho_GTPase_activation_prot	Homologous_superfamily
IPR047941	ARHGAP19_RhoGAP	Domain

Pfam: PF00620

UniProt features (27 total): modified residue 7, splice variant 7, sequence conflict 4, region of interest 2, compositionally biased region 2, initiator methionine 1, chain 1, domain 1, sequence variant 1, site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q14CB8-F1	70.40	0.35

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): 143 (arginine finger; crucial for gtp hydrolysis by stabilizing the transition state)

Post-translational modifications (7): 31, 422, 438, 470, 478, 2, 7

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-8980692	RHOA GTPase cycle

MSigDB gene sets: 210 (showing top): GOBP_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, IVANOVA_HEMATOPOIESIS_MATURE_CELL, MITSIADES_RESPONSE_TO_APLIDIN_DN, PUJANA_CHEK2_PCC_NETWORK, FISCHER_G2_M_CELL_CYCLE, GARCIA_TARGETS_OF_FLI1_AND_DAX1_DN, DOUGLAS_BMI1_TARGETS_DN, FISCHER_DREAM_TARGETS, ACEVEDO_LIVER_CANCER_UP, GOBP_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, MARSON_BOUND_BY_E2F4_UNSTIMULATED, LIU_SOX4_TARGETS_UP, GEORGES_TARGETS_OF_MIR192_AND_MIR215, RAY_TUMORIGENESIS_BY_ERBB2_CDC25A_UP, GOMF_ENZYME_ACTIVATOR_ACTIVITY

GO Biological Process (2): signal transduction (GO:0007165), regulation of small GTPase mediated signal transduction (GO:0051056)

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

GO Cellular Component (4): nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829), plasma membrane (GO:0005886)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
RHO GTPase cycle	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
small GTPase-mediated signal transduction	1
regulation of intracellular signal transduction	1
GTPase activity	1
enzyme activator activity	1
GTPase regulator activity	1
binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cytoplasm	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

620 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ARHGAP19	RHOA	P06749	636
ARHGAP19	PAK4	O96013	359
ARHGAP19	SH3PXD2A	Q5TCZ1	354
ARHGAP19	ARHGAP1	Q07960	344
ARHGAP19	NHLRC3	Q5JS37	342
ARHGAP19	THAP10	Q9P2Z0	293
ARHGAP19	TNS2	Q63HR2	293
ARHGAP19	KIF14	Q15058	281
ARHGAP19	RACGAP1	Q9H0H5	275
ARHGAP19	TOR1AIP1	Q5JTV8	271
ARHGAP19	METTL26	Q96S19	260
ARHGAP19	SZRD1	Q7Z422	258
ARHGAP19	DEPDC1	Q5TB30	253
ARHGAP19	KIF22	Q14807	251
ARHGAP19	RBM12B	Q8IXT5	249

IntAct

39 interactions, top by confidence:

A	B	Type	Score
ATXN3	ARHGAP19	psi-mi:“MI:0915”(physical association)	0.670
YWHAH	PLEKHG3	psi-mi:“MI:0914”(association)	0.610
YWHAH	BLTP3B	psi-mi:“MI:0914”(association)	0.570
YWHAQ	IGLC7	psi-mi:“MI:0914”(association)	0.530
N	RBM47	psi-mi:“MI:0914”(association)	0.530
DEFA5	NUDT19	psi-mi:“MI:0914”(association)	0.530
CBY1	CFAP410	psi-mi:“MI:0914”(association)	0.510
YWHAB	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
YWHAG	C1orf226	psi-mi:“MI:0914”(association)	0.350
N	RBM47	psi-mi:“MI:0914”(association)	0.350
CALM2	MYO1C	psi-mi:“MI:0914”(association)	0.350
CALM3	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
TMED10	PGRMC1	psi-mi:“MI:0914”(association)	0.350
YWHAG	BRAF	psi-mi:“MI:0914”(association)	0.350
YWHAB	FOXO6	psi-mi:“MI:0914”(association)	0.350
YWHAG	FOXO6	psi-mi:“MI:0914”(association)	0.350
YWHAQ	FOXO6	psi-mi:“MI:0914”(association)	0.350
S100A2	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
HNRNPCL2	SMCHD1	psi-mi:“MI:0914”(association)	0.350
CCT8L2	DVL2	psi-mi:“MI:0914”(association)	0.350
IKZF5	PEX14	psi-mi:“MI:0914”(association)	0.350
ARHGAP19	FHIT	psi-mi:“MI:0914”(association)	0.350
ARHGAP19	IFIT5	psi-mi:“MI:0914”(association)	0.350

BioGRID (81): ARHGAP19 (Affinity Capture-MS), FHIT (Affinity Capture-MS), ARHGAP19 (Affinity Capture-MS), DCAF16 (Affinity Capture-MS), RNF41 (Affinity Capture-MS), TDRKH (Affinity Capture-MS), LRP2 (Affinity Capture-MS), ERBB2IP (Affinity Capture-MS), CBY1 (Affinity Capture-MS), ARHGAP19 (Co-fractionation), ARHGAP19 (FRET), ATP5C1 (Affinity Capture-MS), CCDC50 (Affinity Capture-MS), CPSF1 (Affinity Capture-MS), DDOST (Affinity Capture-MS)

ESM2 similar proteins: A2AR50, A4IJ06, F1QGZ6, O17482, O55043, O94988, O97790, P42331, P49021, Q0VGW0, Q14CB8, Q15311, Q28CB1, Q3U0J8, Q4QR86, Q4R7W3, Q5F3G0, Q5JS13, Q5R8B7, Q5RDX5, Q5U2Z7, Q5XXR3, Q5ZJK0, Q62172, Q62796, Q6AZT6, Q6INE5, Q6NTL4, Q6ZM86, Q6ZWE6, Q86TI0, Q86X27, Q8BL80, Q8BM47, Q8BN58, Q8BRH3, Q8BYW1, Q8C4V1, Q8K0Q5, Q8K4I3

Diamond homologs: A1A4S6, A6NI28, A6X8Z5, A7E300, B2RQE8, B5DFQ4, B9VTT2, D3ZFJ3, D3ZZN9, E9Q6X9, F1LQX4, O43182, O60890, P0CAX5, P15882, P30337, P55194, P81128, P83509, P98171, Q07960, Q08DP6, Q13459, Q14CB8, Q17QN0, Q17R89, Q2M1Z3, Q3KRB8, Q54FF4, Q54PG5, Q54TH9, Q54VW7, Q553X3, Q559A0, Q5FWK3, Q5SSM3, Q5TG30, Q5U4T3, Q62172, Q63358

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
ARHGAP19	“down-regulates activity”	RHOA	“gtpase-activating protein”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 35 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Activation of BAD and translocation to mitochondria	7	222.1×	4e-14
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	7	195.9×	6e-14
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	7	195.9×	6e-14
Activation of BH3-only proteins	7	144.8×	6e-13
RHO GTPases activate PKNs	7	92.5×	1e-11
Intrinsic Pathway for Apoptosis	7	85.4×	2e-11
FOXO-mediated transcription	6	84.0×	1e-09
Translocation of SLC2A4 (GLUT4) to the plasma membrane	8	51.4×	3e-11

GO biological processes:

GO term	Partners	Fold	FDR
protein targeting	5	59.1×	2e-06
substantia nigra development	5	59.1×	2e-06
intracellular protein localization	9	30.4×	3e-09

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	1
Uncertain significance	69
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (4)

Variant ID	HGVS	Classification
4687856	NM_032900.6(ARHGAP19):c.203T>C (p.Leu68Pro)	Pathogenic
4687858	NM_032900.6(ARHGAP19):c.585dup (p.His196fs)	Pathogenic
4687859	NM_032900.6(ARHGAP19):c.451C>A (p.Gln151Lys)	Pathogenic
4759345	NM_032900.6(ARHGAP19):c.563del (p.Pro188fs)	Likely pathogenic

SpliceAI

2230 predictions. Top by Δscore:

Variant	Effect	Δscore
10:97229223:TAA:T	acceptor_gain	1.0000
10:97229226:C:CC	acceptor_gain	1.0000
10:97229762:A:AC	donor_gain	1.0000
10:97229763:C:CC	donor_gain	1.0000
10:97229766:AGTT:A	donor_gain	1.0000
10:97229880:T:TC	acceptor_gain	1.0000
10:97235311:TTAAA:T	acceptor_gain	1.0000
10:97235312:TAAA:T	acceptor_gain	1.0000
10:97235313:AAA:A	acceptor_gain	1.0000
10:97235314:AA:A	acceptor_gain	1.0000
10:97235316:C:CC	acceptor_gain	1.0000
10:97243988:T:TA	donor_gain	1.0000
10:97244035:AGTG:A	donor_gain	1.0000
10:97244044:T:TA	donor_gain	1.0000
10:97244157:ATCC:A	acceptor_loss	1.0000
10:97244158:TCC:T	acceptor_loss	1.0000
10:97244160:CTAA:C	acceptor_loss	1.0000
10:97244161:T:C	acceptor_loss	1.0000
10:97244161:T:G	acceptor_loss	1.0000
10:97246266:TCTTA:T	donor_loss	1.0000
10:97246267:CTTA:C	donor_loss	1.0000
10:97246267:CTTAC:C	donor_loss	1.0000
10:97246268:TTACC:T	donor_loss	1.0000
10:97246269:TA:T	donor_loss	1.0000
10:97246270:A:C	donor_loss	1.0000
10:97246270:ACCT:A	donor_loss	1.0000
10:97246271:C:CT	donor_loss	1.0000
10:97246344:A:T	acceptor_gain	1.0000
10:97246348:C:CT	acceptor_gain	1.0000
10:97246349:A:AC	acceptor_gain	1.0000

AlphaMissense

3253 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:97259442:A:G	L267P	1.000
10:97259457:A:G	M262T	1.000
10:97263490:C:A	K181N	1.000
10:97263490:C:G	K181N	1.000
10:97263596:C:T	G146D	1.000
10:97259439:G:T	A268D	0.999
10:97259442:A:T	L267H	0.999
10:97259456:C:A	M262I	0.999
10:97259456:C:G	M262I	0.999
10:97259456:C:T	M262I	0.999
10:97259482:C:G	A254P	0.999
10:97259493:A:G	L250P	0.999
10:97259496:A:G	L249P	0.999
10:97259514:A:G	L243P	0.999
10:97259523:C:G	R240P	0.999
10:97263492:T:C	K181E	0.999
10:97263494:A:G	L180P	0.999
10:97263503:G:T	A177D	0.999
10:97263584:C:G	R150P	0.999
10:97263596:C:A	G146V	0.999
10:97263597:C:G	G146R	0.999
10:97263604:T:A	R143S	0.999
10:97263604:T:G	R143S	0.999
10:97263605:C:G	R143T	0.999
10:97263606:T:C	R143G	0.999
10:97263608:A:G	F142S	0.999
10:97263614:C:T	G140D	0.999
10:97263615:C:G	G140R	0.999
10:97264834:A:G	L132P	0.999
10:97259457:A:C	M262R	0.998

dbSNP variants (sampled 300 via entrez): RS1000062182 (10:97256984 G>A,T), RS1000124263 (10:97273895 G>A), RS1000143399 (10:97252618 A>G), RS1000180040 (10:97250705 A>G), RS1000215740 (10:97225062 G>A), RS1000251698 (10:97264439 C>G,T), RS1000260952 (10:97229140 T>C), RS1000308156 (10:97270947 G>A), RS1000337339 (10:97290200 G>A), RS1000418156 (10:97264224 G>A,T), RS1000427131 (10:97237950 T>A,C), RS1000430419 (10:97221835 A>C), RS1000493930 (10:97247533 T>C), RS1000558733 (10:97248121 A>G), RS1000634604 (10:97280084 A>C)

Disease associations

OMIM: gene MIM:611587 | disease phenotypes: MIM:621466

GenCC curated gene-disease

Mondo (1): Charcot-Marie-Tooth disease, axonal, type 2KK (MONDO:0980963)

Orphanet (0):

HPO phenotypes

54 total (30 of 54 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0001263	Global developmental delay
HP:0001271	Polyneuropathy
HP:0001288	Gait disturbance
HP:0001653	Mitral regurgitation
HP:0001761	Pes cavus
HP:0001763	Pes planus
HP:0001765	Hammertoe
HP:0002359	Frequent falls
HP:0002460	Distal muscle weakness
HP:0002495	Impaired vibratory sensation
HP:0002515	Waddling gait
HP:0002522	Areflexia of lower limbs
HP:0002527	Falls
HP:0002650	Scoliosis
HP:0002922	Increased CSF protein concentration
HP:0003376	Steppage gait
HP:0003394	Muscle spasm
HP:0003396	Syringomyelia
HP:0003431	Decreased motor nerve conduction velocity
HP:0003438	Absent Achilles reflex
HP:0003477	Peripheral axonal neuropathy
HP:0003484	Upper limb muscle weakness
HP:0003487	Babinski sign
HP:0003593	Infantile onset
HP:0003621	Juvenile onset
HP:0003707	Calf muscle pseudohypertrophy
HP:0006844	Absent patellar reflexes
HP:0006858	Impaired distal proprioception
HP:0006886	Impaired distal vibration sensation

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST007324_62	Adventurousness	1.000000e-15
GCST010118_115	Type 2 diabetes	9.000000e-11
GCST010796_3812	Electrocardiogram morphology (amplitude at temporal datapoints)	7.000000e-09
GCST010796_3813	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-08
GCST010796_3814	Electrocardiogram morphology (amplitude at temporal datapoints)	9.000000e-09

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0008579	risk-taking behaviour
EFO:0004327	electrocardiography

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Tetrachlorodibenzodioxin	affects expression, decreases expression	3
Valproic Acid	affects expression, decreases expression	3
trichostatin A	affects cotreatment, decreases expression	2
Acetaminophen	decreases expression, increases expression	2
Air Pollutants	affects cotreatment, increases abundance, increases oxidation, decreases expression	2
Cadmium	decreases expression, increases abundance	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
aristolochic acid I	decreases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
bisphenol A	decreases expression	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	affects methylation	1
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
ICG 001	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	decreases expression	1
Sunitinib	decreases expression	1
Zoledronic Acid	decreases expression	1
Arsenic Trioxide	increases response to substance	1
Acrolein	affects cotreatment, increases oxidation, increases abundance	1
Arsenic	affects methylation	1
Atrazine	increases expression	1
Benzene	decreases expression	1
Benzo(a)pyrene	affects methylation	1
Calcitriol	affects cotreatment, decreases expression	1
Carbamazepine	affects expression	1
Coumestrol	increases expression	1

Clinical trials (associated diseases)

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