ARL4C

Summary

ARL4C (ARF like GTPase 4C, HGNC:698) is a protein-coding gene on chromosome 2q37.1, encoding ADP-ribosylation factor-like protein 4C (P56559). Small GTP-binding protein which cycles between an inactive GDP-bound and an active GTP-bound form, and the rate of cycling is regulated by guanine nucleotide exchange factors (GEF) and GTPase-activating proteins (GAP).

ADP-ribosylation factor-like 4C is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL4C is closely similar to ARL4A and ARL4D and each has a nuclear localization signal and an unusually high guanine nucleotide exchange rate. This protein may play a role in cholesterol transport.

Source: NCBI Gene 10123 — RefSeq curated summary.

At a glance

• GWAS associations: 8
• Clinical variants (ClinVar): 14 total
• MANE Select transcript: NM_001282431

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:698
Approved symbol	ARL4C
Name	ARF like GTPase 4C
Location	2q37.1
Locus type	gene with protein product
Status	Approved
Aliases	LAK
Ensembl gene	ENSG00000188042
Ensembl biotype	protein_coding
OMIM	604787
Entrez	10123

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000339728, ENST00000390645

RefSeq mRNA: 2 — MANE Select: NM_001282431 NM_001282431, NM_005737

CCDS: CCDS2512, CCDS63169

Canonical transcript exons

ENST00000339728 — 2 exons

Exon	Start	End
ENSE00001389643	234496012	234497081
ENSE00001460370	234493041	234495836

Expression profiles

Bgee: expression breadth ubiquitous, 277 present calls, max score 97.08.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 26.6989 / max 724.9691, expressed in 1512 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
34648	16.8169	1451
34645	8.6216	1066
34646	0.7634	193
34647	0.4970	256

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
pons	UBERON:0000988	97.08	gold quality
granulocyte	CL:0000094	97.04	gold quality
choroid plexus epithelium	UBERON:0003911	95.18	gold quality
esophagus squamous epithelium	UBERON:0006920	95.10	gold quality
middle temporal gyrus	UBERON:0002771	94.53	gold quality
secondary oocyte	CL:0000655	94.31	gold quality
Brodmann (1909) area 46	UBERON:0006483	94.28	gold quality
oocyte	CL:0000023	94.07	gold quality
lymph node	UBERON:0000029	94.04	gold quality
epithelium of mammary gland	UBERON:0003244	94.02	gold quality
mammary duct	UBERON:0001765	93.90	gold quality
epithelium of esophagus	UBERON:0001976	93.83	gold quality
penis	UBERON:0000989	93.74	gold quality
lateral nuclear group of thalamus	UBERON:0002736	93.67	gold quality
amniotic fluid	UBERON:0000173	93.61	gold quality
thymus	UBERON:0002370	93.40	gold quality
embryo	UBERON:0000922	92.98	gold quality
nipple	UBERON:0002030	92.95	gold quality
blood	UBERON:0000178	92.79	gold quality
palpebral conjunctiva	UBERON:0001812	92.72	gold quality
hair follicle	UBERON:0002073	92.62	gold quality
buccal mucosa cell	CL:0002336	92.50	gold quality
squamous epithelium	UBERON:0006914	92.44	gold quality
occipital lobe	UBERON:0002021	92.37	gold quality
primary visual cortex	UBERON:0002436	92.28	gold quality
superior vestibular nucleus	UBERON:0007227	92.20	gold quality
gall bladder	UBERON:0002110	92.15	gold quality
cerebellar vermis	UBERON:0004720	92.07	gold quality
cervix squamous epithelium	UBERON:0006922	92.06	gold quality
visceral pleura	UBERON:0002401	92.05	gold quality

Single-cell (SCXA)

Detected in 19 experiment(s), a significant marker in 18.

Experiment	Marker?	Max mean expression
E-HCAD-36	yes	1836.20
E-GEOD-149689	yes	773.55
E-CURD-6	yes	340.18
E-MTAB-8142	yes	75.50
E-HCAD-35	yes	68.84
E-CURD-122	yes	50.17
E-MTAB-9221	yes	49.46
E-HCAD-6	yes	46.29
E-MTAB-9467	yes	41.25
E-HCAD-4	yes	30.77
E-GEOD-135922	yes	27.08
E-HCAD-10	yes	19.07
E-HCAD-9	yes	18.41
E-CURD-112	yes	14.68
E-CURD-46	yes	8.39

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): NR1H3

miRNA regulators (miRDB)

171 targeting ARL4C, 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-513A-5P	100.00	69.77	2465
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-188-3P	100.00	68.76	1240
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-144-3P	99.94	73.98	2698
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-12133	99.92	71.82	2006

Literature-anchored findings (GeneRIF, showing 20)

• Study shows that three related Arf-like GTPases Arl4a, Arl4c, and Arl4d, are able to recruit ARNO and other cytohesins to the plasma membrane by binding to their PH domains irrespective of whether they are in the diglycine or triglycine form. (PMID:17398095)
• ARL7 might modulate the intracellular vesicular transport via interaction with microtubules. (PMID:19409876)
• an important role of LXRs in the coordinated regulation of lipid metabolic and inflammatory gene programs in macrophages (PMID:21187453)
• Arl4c is involved in tumorigenesis and might represent a novel therapeutic target for suppressing proliferation and invasion of colorectal and lung cancer cells. (PMID:25486429)
• Results indicated that overexpression of Arl4c might contribute to the tumorigenesis and might play a pivotal role in the progression of CRC. (PMID:26756615)
• ARL4C is expressed due to hypomethylation in the 3’-UTR for certain types of cancers and that ARL4C methylation status is involved in squamous cell carcinoma cell function. (PMID:27835592)
• Arl4c as a novel Wnt signal target molecule that links epithelial tubulogenesis to tumourigenesis. (PMID:28053143)
• High ARL4C expression was associated with the depth of invasion and Peritoneal Dissemination in Gastric Cancer. (PMID:29270876)
• We demonstrate that ARL4C knockdown likely attenuates osteogenesis of hASCs through inhibition of the Wnt signaling pathway. These results provide new insights into the mechanisms of osteogenic differentiation and provide a potential molecular target for bone tissue engineering. (PMID:29432742)
• ARL4C stabilized by AKT/mTOR pathway promotes the invasiveness of PTEN-deficient glioblastoma cells. (PMID:30357833)
• High ARL4C expression is associated with Peritoneal Dissemination in Gastric Cancer. (PMID:30556117)
• High ADP-ribosylation factor-like protein 4C (ARL4C) expression in endometriosis-associated ovarian cancer is a significantly independent predictive factor for worse 5-year overall survival and 5-year progression-free survival. (PMID:30594917)
• ARL4C antisense oligonucleotides (ASO) accumulated in cancer cells more efficiently than the surrounding normal cells in the liver and decreased ARL4C expression in the tumor. These results suggest that ARL4C ASO represents a novel targeted nucleic acid medicine for the treatment of primary and metastatic liver cancers. (PMID:30647122)
• ARL4C is involved in the initiation of the premalignant stage. (PMID:31925985)
• ARL4C might serve as a prognostic factor and a novel therapeutic target for gastric cancer: bioinformatics analyses and biological experiments. (PMID:33724652)
• RAF1-MEK/ERK pathway-dependent ARL4C expression promotes ameloblastoma cell proliferation and osteoclast formation. (PMID:34622442)
• Identification of Neural Progenitor Cell-associated Chemoradiotherapy Resistance Gene Set (ARL4C, MSN, TNFAIP6) for Prognosis of Glioma. (PMID:35718975)
• ARL4C depletion suppresses the resistance of ovarian cancer to carboplatin by disrupting cholesterol transport and autophagy via notch-RBP-Jkappa-H3K4Me3-OSBPL5. (PMID:36366750)
• Stepwise activation of p63 and the MEK/ERK pathway induces the expression of ARL4C to promote oral squamous cell carcinoma cell proliferation. (PMID:37141698)
• ARL4C is associated with epithelial-to-mesenchymal transition in colorectal cancer. (PMID:37237373)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	arl4ca	ENSDARG00000057606
mus_musculus	Arl4c	ENSMUSG00000049866
rattus_norvegicus	Arl4c	ENSRNOG00000069663

Paralogs (30): ARF5 (ENSG00000004059), SAR1A (ENSG00000079332), ARFRP1 (ENSG00000101246), TRIM23 (ENSG00000113595), ARL6 (ENSG00000113966), ARL1 (ENSG00000120805), ARL4A (ENSG00000122644), ARL8B (ENSG00000134108), ARF3 (ENSG00000134287), ARL3 (ENSG00000138175), ARL5C (ENSG00000141748), ARF1 (ENSG00000143761), ARL8A (ENSG00000143862), ARL11 (ENSG00000152213), SAR1B (ENSG00000152700), ARL5A (ENSG00000162980), ARF6 (ENSG00000165527), ARL5B (ENSG00000165997), ARF4 (ENSG00000168374), ARL13B (ENSG00000169379), ARL13A (ENSG00000174225), ARL10 (ENSG00000175414), ARL4D (ENSG00000175906), ARL14 (ENSG00000179674), ARL15 (ENSG00000185305), ARL17A (ENSG00000185829), ARL9 (ENSG00000196503), ARL2 (ENSG00000213465), ARL16 (ENSG00000214087), ARL17B (ENSG00000228696)

Protein

Protein identifiers

ADP-ribosylation factor-like protein 4C — P56559 (reviewed: P56559)

Alternative names: ADP-ribosylation factor-like protein 7, ADP-ribosylation factor-like protein LAK

All UniProt accessions (1): P56559

UniProt curated annotations — full annotation on UniProt →

Function. Small GTP-binding protein which cycles between an inactive GDP-bound and an active GTP-bound form, and the rate of cycling is regulated by guanine nucleotide exchange factors (GEF) and GTPase-activating proteins (GAP). GTP-binding protein that does not act as an allosteric activator of the cholera toxin catalytic subunit. May be involved in transport between a perinuclear compartment and the plasma membrane, apparently linked to the ABCA1-mediated cholesterol secretion pathway. Recruits CYTH1, CYTH2, CYTH3 and CYTH4 to the plasma membrane in the GDP-bound form. Regulates the microtubule-dependent intracellular vesicular transport from early endosome to recycling endosome process.

Subunit / interactions. Interacts with CYTH2. Interacts with alpha tubulin; interaction is independent on the ARL4C GTP or GDP binding status.

Subcellular location. Cell projection. Filopodium. Cell membrane. Cytoplasm.

Tissue specificity. Expressed in several tumor cell lines (at protein level). Expressed in lung, brain, leukocytes and placenta.

Induction. By liver X-receptor/retinoid X receptor agonists or cholesterol loading.

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

Isoforms (2)

UniProt ID	Names	Canonical?
P56559-1	1	yes
P56559-2	2

RefSeq proteins (2): NP_001269360, NP_005728 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR005225	Small_GTP-bd	Domain
IPR006689	Small_GTPase_ARF/SAR	Family
IPR024156	Small_GTPase_ARF	Family
IPR027417	P-loop_NTPase	Homologous_superfamily

Pfam: PF00025

UniProt features (11 total): mutagenesis site 4, binding site 3, initiator methionine 1, chain 1, lipid moiety-binding region 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P56559-F1	93.55	0.90

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): 20–27; 68–72; 127–130

Post-translational modifications (1): 2

Mutagenesis-validated functional residues (4):

Position	Phenotype
72	does not interact with alpha tubulin. activates transferrin transport from early endosome to recycling endosome.
2	cytoplasmic localization.
27	does not interact with alpha tubulin.
34	cytoplasmic localization. increases gdp-form.

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-9029569	NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux
R-HSA-162582	Signal Transduction
R-HSA-9006931	Signaling by Nuclear Receptors
R-HSA-9024446	NR1H2 and NR1H3-mediated signaling

MSigDB gene sets: 513 (showing top): GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_DN, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, LEE_NEURAL_CREST_STEM_CELL_DN, BROWNE_HCMV_INFECTION_6HR_DN, WALLACE_PROSTATE_CANCER_RACE_UP, YAGI_AML_WITH_INV_16_TRANSLOCATION, CCAWYNNGAAR_UNKNOWN, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, CHIARETTI_T_ALL_REFRACTORY_TO_THERAPY, GCANCTGNY_MYOD_Q6, MODULE_45, CHEOK_RESPONSE_TO_HD_MTX_UP, GOBP_VESICLE_MEDIATED_TRANSPORT, TACAATC_MIR508, HNF1_Q6

GO Biological Process (2): intracellular protein transport (GO:0006886), endocytic recycling (GO:0032456)

GO Molecular Function (5): GTPase activity (GO:0003924), GTP binding (GO:0005525), alpha-tubulin binding (GO:0043014), nucleotide binding (GO:0000166), protein binding (GO:0005515)

GO Cellular Component (8): nucleus (GO:0005634), cytoplasm (GO:0005737), mitochondrion (GO:0005739), cytosol (GO:0005829), plasma membrane (GO:0005886), filopodium (GO:0030175), membrane (GO:0016020), cell projection (GO:0042995)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
NR1H2 and NR1H3-mediated signaling	1
Signal Transduction	1
Signaling by Nuclear Receptors	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
intracellular membrane-bounded organelle	2
cytoplasm	2
intracellular protein localization	1
protein transport	1
intracellular transport	1
endosomal transport	1
vesicle-mediated transport to the plasma membrane	1
ribonucleoside triphosphate phosphatase activity	1
guanyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
tubulin binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
intracellular anatomical structure	1
membrane	1
cell periphery	1
actin-based cell projection	1

Protein interactions and networks

STRING

1833 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ARL4C	JDP2	Q8WYK2	905
ARL4C	CYTH2	Q99418	627
ARL4C	FOSL2	P15408	595
ARL4C	CTSK	P43235	553
ARL4C	JUND	P17535	537
ARL4C	FLNA	P21333	485
ARL4C	HDAC3	O15379	481
ARL4C	FRMD4A	Q9P2Q2	419
ARL4C	FAM89B	Q8N5H3	418
ARL4C	ARL16	Q0P5N6	402
ARL4C	LMOD1	P29536	397
ARL4C	ABCA1	O95477	381
ARL4C	MORN5	Q5VZ52	377
ARL4C	ABCG1	P45844	366
ARL4C	CYTH1	Q15438	357

IntAct

13 interactions, top by confidence:

A	B	Type	Score
ARL4C	RGS12	psi-mi:“MI:0914”(association)	0.640
ARL4C		psi-mi:“MI:0915”(physical association)	0.560
RBP4	POLR3D	psi-mi:“MI:0914”(association)	0.530
DCUN1D4	ARL4C	psi-mi:“MI:0914”(association)	0.350
FYN	ARL4C	psi-mi:“MI:0915”(physical association)	0.000
UBQLN4	ARL4C	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (160): XRCC2 (Affinity Capture-MS), ARL4C (Affinity Capture-MS), RGS12 (Affinity Capture-MS), FBXO33 (Affinity Capture-MS), DIRAS1 (Affinity Capture-MS), TERF2 (Affinity Capture-MS), RAD51B (Affinity Capture-MS), NKIRAS1 (Affinity Capture-MS), DNAJC12 (Affinity Capture-MS), POLE2 (Affinity Capture-MS), TERF2IP (Affinity Capture-MS), RAD51D (Affinity Capture-MS), ARL10 (Affinity Capture-MS), POLE4 (Affinity Capture-MS), PAF1 (Affinity Capture-MS)

ESM2 similar proteins: A8ISN6, B5FYQ0, O00909, O45379, O48649, O48920, P0CM16, P0CM17, P0DH91, P18085, P25160, P36397, P36405, P37996, P38116, P40616, P40940, P49076, P49702, P51644, P51821, P56559, P61208, P61211, P61212, P61750, P61751, P84081, P84082, P84083, P84084, P84085, Q06396, Q19705, Q1MTE5, Q20758, Q2TBW6, Q2YDM1, Q3SZF2, Q52NJ4

Diamond homologs: A1CRG9, A1D4D1, A3LTA2, A8INQ0, A8ISN6, B5FYQ0, H2L0N8, O04266, O04267, O04834, O08697, O45379, P0C950, P0C951, P0CM16, P0CM17, P0CR30, P0CR31, P20606, P22274, P25160, P36404, P36405, P36536, P37996, P49703, P52885, P56559, P61208, Q01474, Q01475, Q02804, Q06849, Q09767, Q0CUN7, Q0VC18, Q10943, Q13795, Q19705, Q1MTE5

SIGNOR signaling

0 interactions.

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	13
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

86 predictions. Top by Δscore:

Variant	Effect	Δscore
2:234496952:G:A	donor_gain	0.8100
2:234494586:T:TC	acceptor_gain	0.6800
2:234497017:C:A	donor_gain	0.6600
2:234493408:C:CC	acceptor_gain	0.6200
2:234494586:T:C	acceptor_gain	0.6200
2:234497016:T:TA	donor_gain	0.6000
2:234493407:T:TC	acceptor_gain	0.5700
2:234493406:C:CA	acceptor_gain	0.5500
2:234495725:G:GT	donor_gain	0.5500
2:234496037:T:TA	donor_gain	0.5300
2:234494583:CTTT:C	acceptor_gain	0.5200
2:234494584:TTTT:T	acceptor_gain	0.5200
2:234495817:AGCT:A	donor_gain	0.5200
2:234493415:GTC:G	acceptor_gain	0.4800
2:234495827:G:C	donor_gain	0.4700
2:234496250:TGGTC:T	donor_gain	0.4600
2:234496012:C:CT	donor_gain	0.4500
2:234496885:T:TA	donor_gain	0.4500
2:234493361:C:CG	acceptor_gain	0.4100
2:234493416:T:A	acceptor_gain	0.4100
2:234496011:CCG:C	donor_gain	0.4100
2:234495813:T:TA	donor_gain	0.4000
2:234495835:T:TA	donor_gain	0.3800
2:234495640:T:TA	acceptor_gain	0.3700
2:234496551:C:CC	acceptor_gain	0.3700
2:234496959:G:A	donor_gain	0.3700
2:234494585:T:G	acceptor_gain	0.3600
2:234495551:A:T	donor_gain	0.3600
2:234493360:C:CA	acceptor_gain	0.3500
2:234495818:G:C	donor_gain	0.3400

AlphaMissense

1314 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:234496203:C:A	K128N	1.000
2:234496203:C:G	K128N	1.000
2:234496219:A:G	L123P	1.000
2:234496324:C:T	G88D	1.000
2:234496352:A:G	W79R	1.000
2:234496352:A:T	W79R	1.000
2:234496384:T:G	D68A	1.000
2:234496385:C:G	D68H	1.000
2:234496446:G:C	F47L	1.000
2:234496446:G:T	F47L	1.000
2:234496448:A:G	F47L	1.000
2:234496492:C:G	R32P	1.000
2:234496507:G:A	T27I	1.000
2:234496511:T:G	K26Q	1.000
2:234496513:C:A	G25V	1.000
2:234496513:C:T	G25D	1.000
2:234496514:C:G	G25R	1.000
2:234496529:C:G	G20R	1.000
2:234496063:A:G	L175P	0.999
2:234496076:C:G	G171R	0.999
2:234496102:G:T	A162D	0.999
2:234496204:T:A	K128M	0.999
2:234496204:T:G	K128T	0.999
2:234496205:T:C	K128E	0.999
2:234496206:G:C	N127K	0.999
2:234496206:G:T	N127K	0.999
2:234496210:G:T	A126D	0.999
2:234496216:A:T	V124D	0.999
2:234496264:A:G	L108P	0.999
2:234496277:C:G	A104P	0.999

dbSNP variants (sampled 300 via entrez): RS1000477576 (2:234494986 C>T), RS1000529579 (2:234494601 G>A,T), RS1001478834 (2:234497135 C>T), RS1001846046 (2:234497374 C>G), RS1002097888 (2:234495370 C>A), RS1003364693 (2:234497732 T>G), RS1003546106 (2:234492931 T>A), RS1003596774 (2:234492763 T>G), RS1003804936 (2:234498000 G>A,T), RS1004765348 (2:234494171 T>A,C), RS1005154578 (2:234492988 C>T), RS1005512525 (2:234498031 A>G), RS1005770093 (2:234496180 G>A,C,T), RS1006678654 (2:234498521 C>T), RS1006952393 (2:234498795 C>A,T)

Disease associations

OMIM: gene MIM:604787 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST000745_1	Pancreatic cancer	6.000000e-06
GCST002252_2	Blood pressure measurement (high sodium and potassium intervention)	2.000000e-08
GCST002252_6	Blood pressure measurement (high sodium and potassium intervention)	1.000000e-06
GCST003901_19	Cognitive decline (age-related)	6.000000e-06
GCST005026_2	Initial pursuit acceleration in psychotic disorders	2.000000e-07
GCST006366_12	Central corneal thickness	9.000000e-09
GCST006436_8	Triglyceride levels	1.000000e-09
GCST010426_2	Systolic blood pressure x educational attainment (some college) interaction (2df)	2.000000e-08

EFO canonical traits (9, from GWAS)

EFO ID	Trait name
EFO:0005401	response to high sodium diet
EFO:0005403	response to dietary potassium supplementation
EFO:0006336	diastolic blood pressure
EFO:0006340	mean arterial pressure
EFO:0008434	initial pursuit acceleration
EFO:0005213	central corneal thickness
EFO:0004530	triglyceride measurement
EFO:0004784	self reported educational attainment
EFO:0006335	systolic blood pressure

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases methylation, increases expression	5
Valproic Acid	affects expression, increases expression, increases methylation	4
sodium arsenite	decreases expression, affects cotreatment, increases abundance, increases expression	3
Acetaminophen	affects cotreatment, increases expression	3
Estradiol	affects expression, affects cotreatment, decreases expression, increases expression	3
trichostatin A	affects cotreatment, decreases expression	2
nickel sulfate	increases expression	2
entinostat	decreases expression, affects cotreatment	2
(+)-JQ1 compound	decreases expression, increases expression	2
Arsenic	increases expression, affects methylation, affects cotreatment, increases abundance	2
Lipopolysaccharides	affects expression, affects response to substance, increases expression, affects cotreatment, decreases expression	2
Nickel	increases expression	2
Progesterone	affects cotreatment, decreases expression	2
Cyclosporine	decreases expression, increases expression	2
Raloxifene Hydrochloride	affects expression, affects cotreatment, decreases expression	2
aristolochic acid I	decreases expression	1
triphenyl phosphate	affects expression	1
propionaldehyde	increases expression	1
bisphenol A	increases expression	1
terbufos	increases methylation	1
tris(2-butoxyethyl) phosphate	affects expression	1
3,4,5,3’,4’-pentachlorobiphenyl	increases expression	1
manganese chloride	increases abundance, increases expression, affects cotreatment	1
ochratoxin A	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment, decreases expression	1
tamibarotene	decreases expression	1
perfluorooctane sulfonic acid	increases expression	1
CGP 52608	affects binding, increases reaction	1
2-palmitoylglycerol	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	decreases expression, affects cotreatment	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_E1C8	Ubigene SK-LMS-1 ARL4C KO	Cancer cell line	Female

Clinical trials (associated diseases)

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