RALGPS2

Summary

RALGPS2 (Ral GEF with PH domain and SH3 binding motif 2, HGNC:30279) is a protein-coding gene on chromosome 1q25.2, encoding Ras-specific guanine nucleotide-releasing factor RalGPS2 (Q86X27). Guanine nucleotide exchange factor for the small GTPase RALA.

Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in Ras protein signal transduction. Predicted to be located in cytoplasm. Predicted to be active in plasma membrane.

Source: NCBI Gene 55103 — RefSeq curated summary.

At a glance

• GWAS associations: 10
• Clinical variants (ClinVar): 93 total
• MANE Select transcript: NM_152663

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30279
Approved symbol	RALGPS2
Name	Ral GEF with PH domain and SH3 binding motif 2
Location	1q25.2
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0351, FLJ10244, FLJ25604
Ensembl gene	ENSG00000116191
Ensembl biotype	protein_coding
OMIM	617819
Entrez	55103

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 10 protein_coding, 3 retained_intron

ENST00000324778, ENST00000367632, ENST00000367634, ENST00000367635, ENST00000415888, ENST00000478871, ENST00000480743, ENST00000495034, ENST00000853429, ENST00000853430, ENST00000853431, ENST00000853432, ENST00000853433

RefSeq mRNA: 3 — MANE Select: NM_152663 NM_001286247, NM_001400042, NM_152663

CCDS: CCDS1325, CCDS65733

Canonical transcript exons

ENST00000367635 — 20 exons

Exon	Start	End
ENSE00001696961	178916330	178921840
ENSE00002155168	178893919	178894024
ENSE00003464436	178877498	178877635
ENSE00003472789	178776682	178776821
ENSE00003480930	178833424	178833550
ENSE00003551226	178811315	178811404
ENSE00003554005	178885076	178885211
ENSE00003571070	178906776	178906867
ENSE00003572028	178897664	178897756
ENSE00003599579	178785557	178785607
ENSE00003608780	178784418	178784522
ENSE00003618106	178902106	178902211
ENSE00003634962	178892230	178892307
ENSE00003637032	178821612	178821704
ENSE00003648617	178808045	178808128
ENSE00003669812	178889642	178889696
ENSE00003674138	178878902	178878992
ENSE00003684109	178885969	178886120
ENSE00003789490	178883466	178883533
ENSE00003920172	178725244	178725419

Expression profiles

Bgee: expression breadth ubiquitous, 247 present calls, max score 95.03.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 19.5636 / max 812.1424, expressed in 1700 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
6886	13.0806	1648
6887	4.1956	1286
6885	2.2168	991
6884	0.0706	20

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
gingival epithelium	UBERON:0001949	95.03	gold quality
epithelium of nasopharynx	UBERON:0001951	94.23	gold quality
gingiva	UBERON:0001828	93.81	gold quality
adrenal tissue	UBERON:0018303	92.89	gold quality
esophagus squamous epithelium	UBERON:0006920	92.06	gold quality
superficial temporal artery	UBERON:0001614	92.03	gold quality
left testis	UBERON:0004533	91.47	gold quality
right testis	UBERON:0004534	91.04	gold quality
lymph node	UBERON:0000029	90.94	gold quality
testis	UBERON:0000473	90.73	gold quality
amniotic fluid	UBERON:0000173	90.65	gold quality
tonsil	UBERON:0002372	90.61	gold quality
sperm	CL:0000019	90.10	gold quality
mucosa of sigmoid colon	UBERON:0004993	89.63	gold quality
bronchial epithelial cell	CL:0002328	89.38	gold quality
colonic mucosa	UBERON:0000317	88.61	gold quality
upper leg skin	UBERON:0004262	88.44	gold quality
buccal mucosa cell	CL:0002336	88.03	gold quality
colonic epithelium	UBERON:0000397	87.46	gold quality
caput epididymis	UBERON:0004358	87.27	gold quality
caecum	UBERON:0001153	87.17	gold quality
jejunal mucosa	UBERON:0000399	87.15	gold quality
cortical plate	UBERON:0005343	87.15	gold quality
vermiform appendix	UBERON:0001154	87.13	gold quality
lower esophagus mucosa	UBERON:0035834	86.89	gold quality
stromal cell of endometrium	CL:0002255	86.67	gold quality
male germ cell	CL:0000015	86.66	gold quality
adult organism	UBERON:0007023	86.61	gold quality
oral cavity	UBERON:0000167	86.33	gold quality
mammalian vulva	UBERON:0000997	85.53	gold quality

Single-cell (SCXA)

Detected in 10 experiment(s), a significant marker in 8.

Experiment	Marker?	Max mean expression
E-GEOD-149689	yes	645.22
E-MTAB-9221	yes	511.31
E-CURD-122	yes	110.93
E-HCAD-4	yes	104.51
E-MTAB-9467	yes	28.80
E-ANND-3	yes	21.50
E-GEOD-137537	yes	19.36
E-CURD-112	yes	12.87
E-MTAB-11011	no	2858.27
E-CURD-77	no	1215.87

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

287 targeting RALGPS2, 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-4668-3P	100.00	68.74	2635
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-6758-5P	100.00	66.21	1470
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-432-3P	100.00	67.86	705
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-4713-3P	100.00	65.92	505
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-3646	100.00	73.56	5283
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-98-3P	100.00	74.08	3907
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-126-5P	100.00	72.71	3180
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-3692-3P	99.98	70.27	2139

Literature-anchored findings (GeneRIF, showing 2)

• RALGPS2 is implicated in the control of cell cycle progression and survival in the in vitro growth of NSCLC cell lines. This function is largely independent of Ral GTPases and associated with modulation of Skp2, p27 and p21 cell cycle regulators (PMID:27149377)
• In fact the overexpression of RalGPS2 or of its PH-domain increased markedly the number and the length of nanotubes, while the knock-down of RalGPS2 caused a strong reduction of these structures. Moreover, using a series of RalA mutants impaired in the interaction with different downstream components (Sec5, Exo84, RalBP1) we demonstrated that the interaction of RalA with Sec5 is required for TNTs formation (PMID:29208460)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	ralgps2	ENSDARG00000026519
mus_musculus	Ralgps2	ENSMUSG00000026594
rattus_norvegicus	Ralgps2	ENSRNOG00000004736

Paralogs (24): RASGRF1 (ENSG00000058335), RASGRP2 (ENSG00000068831), RAPGEF3 (ENSG00000079337), RAPGEF4 (ENSG00000091428), SOS2 (ENSG00000100485), RAPGEF1 (ENSG00000107263), RAPGEFL1 (ENSG00000108352), RAPGEF2 (ENSG00000109756), RASGRF2 (ENSG00000113319), SOS1 (ENSG00000115904), RAPGEF5 (ENSG00000136237), RALGPS1 (ENSG00000136828), RASGEF1B (ENSG00000138670), RGL1 (ENSG00000143344), RASGEF1C (ENSG00000146090), RASGRP3 (ENSG00000152689), RAPGEF6 (ENSG00000158987), RGL4 (ENSG00000159496), RALGDS (ENSG00000160271), RASGRP4 (ENSG00000171777), RASGRP1 (ENSG00000172575), RASGEF1A (ENSG00000198915), RGL3 (ENSG00000205517), RGL2 (ENSG00000237441)

Protein

Protein identifiers

Ras-specific guanine nucleotide-releasing factor RalGPS2 — Q86X27 (reviewed: Q86X27)

Alternative names: Ral GEF with PH domain and SH3-binding motif 2, RalA exchange factor RalGPS2

All UniProt accessions (4): A0A0A0MR31, Q86X27, H0Y338, H7C2H2

UniProt curated annotations — full annotation on UniProt →

Function. Guanine nucleotide exchange factor for the small GTPase RALA. May be involved in cytoskeletal organization. May also be involved in the stimulation of transcription in a Ras-independent fashion.

Subunit / interactions. Interacts with the SH3 domains of GRB2 and PLCG1. Interacts with RALA.

Subcellular location. Cytoplasm. Cell membrane.

Disease relevance. RALGPS2 is a potential candidate gene for susceptibility to Alzheimer disease linked to 1q24.

Domain organisation. The PH domain mediates binding to phosphatidylinositol 4,5-bisphosphate.

Isoforms (3)

UniProt ID	Names	Canonical?
Q86X27-1	1	yes
Q86X27-2	2
Q86X27-3	3

RefSeq proteins (3): NP_001273176, NP_001386971, NP_689876* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001849	PH_domain	Domain
IPR001895	RASGEF_cat_dom	Domain
IPR008937	Ras-like_GEF	Family
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR023578	Ras_GEF_dom_sf	Homologous_superfamily
IPR036964	RASGEF_cat_dom_sf	Homologous_superfamily

Pfam: PF00169, PF00617

UniProt features (22 total): modified residue 10, region of interest 3, domain 2, splice variant 2, chain 1, sequence variant 1, sequence conflict 1, short sequence motif 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q86X27-F1	72.34	0.50

Functional residue map

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

Post-translational modifications (10): 308, 311, 326, 329, 343, 361, 374, 422, 293, 296

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 324 (showing top): RNGTGGGC_UNKNOWN, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, NKX25_02, GOBP_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, FOXD3_01, CADWELL_ATG16L1_TARGETS_DN, GARGALOVIC_RESPONSE_TO_OXIDIZED_PHOSPHOLIPIDS_BLUE_DN, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, NF1_Q6_01, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_UP, OCT1_07, GARY_CD5_TARGETS_DN, GATA1_04

GO Biological Process (2): Ras protein signal transduction (GO:0007265), small GTPase-mediated signal transduction (GO:0007264)

GO Molecular Function (2): guanyl-nucleotide exchange factor activity (GO:0005085), protein binding (GO:0005515)

GO Cellular Component (3): cytoplasm (GO:0005737), plasma membrane (GO:0005886), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
small GTPase-mediated signal transduction	1
intracellular signaling cassette	1
GTP binding	1
GDP binding	1
GTPase regulator activity	1
binding	1
intracellular anatomical structure	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

1382 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RALGPS2	TEX35	Q5T0J7	953
RALGPS2	RGSL1	A5PLK6	842
RALGPS2	LST1	O00453	733
RALGPS2	GRIP1	Q9Y3R0	703
RALGPS2	RALA	P11233	696
RALGPS2	ESRP1	Q6NXG1	473
RALGPS2	AURKAIP1	Q9NWT8	467
RALGPS2	UBQLNL	Q8IYU4	467
RALGPS2	YWHAZ	P29213	454
RALGPS2	NBR1	Q14596	452
RALGPS2	OR52H1	Q8NGJ2	447
RALGPS2	RALGAPB	Q86X10	444
RALGPS2	NBEA	Q8NFP9	442
RALGPS2	HYAL2	Q12891	441
RALGPS2	HDAC4	P56524	438

IntAct

82 interactions, top by confidence:

A	B	Type	Score
YWHAB	RALGPS2	psi-mi:“MI:0915”(physical association)	0.900
RALGPS2	YWHAG	psi-mi:“MI:0914”(association)	0.870
RALGPS2	YWHAZ	psi-mi:“MI:0914”(association)	0.870
RALGPS2	YWHAG	psi-mi:“MI:0915”(physical association)	0.870
YWHAZ	RALGPS2	psi-mi:“MI:0915”(physical association)	0.870
YWHAQ	WDR62	psi-mi:“MI:0914”(association)	0.830
YWHAB	WDR62	psi-mi:“MI:0914”(association)	0.770
YWHAG	BLTP3B	psi-mi:“MI:0914”(association)	0.640
YWHAH	PLEKHG3	psi-mi:“MI:0914”(association)	0.610
YWHAB	BLTP3B	psi-mi:“MI:0914”(association)	0.610
SFN	RALGPS2	psi-mi:“MI:0915”(physical association)	0.590
RALGPS2	SFN	psi-mi:“MI:0915”(physical association)	0.590
YWHAH	BLTP3B	psi-mi:“MI:0914”(association)	0.570
RALGPS2	OSBPL3	psi-mi:“MI:0915”(physical association)	0.560
YWHAG	SHTN1	psi-mi:“MI:0914”(association)	0.560
RALGPS2	YWHAE	psi-mi:“MI:0915”(physical association)	0.560
YWHAQ	IGLC7	psi-mi:“MI:0914”(association)	0.530
YWHAB	SHTN1	psi-mi:“MI:0914”(association)	0.530
YWHAZ	SHTN1	psi-mi:“MI:0914”(association)	0.530
YWHAZ	BLTP3B	psi-mi:“MI:0914”(association)	0.530
NRAS	ESYT2	psi-mi:“MI:2364”(proximity)	0.480
YWHAB	PLEKHG3	psi-mi:“MI:0914”(association)	0.480
YWHAQ	PLEKHG3	psi-mi:“MI:0914”(association)	0.480
RALGPS2	AIFM1	psi-mi:“MI:0915”(physical association)	0.400
YWHAB	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
YWHAG	C1orf226	psi-mi:“MI:0914”(association)	0.350
YWHAZ	SPEG	psi-mi:“MI:0914”(association)	0.350
YWHAH	SHTN1	psi-mi:“MI:0914”(association)	0.350
YWHAQ	SHTN1	psi-mi:“MI:0914”(association)	0.350

BioGRID (76): YWHAZ (Affinity Capture-MS), YWHAG (Affinity Capture-MS), CGN (Affinity Capture-MS), RALGPS2 (Affinity Capture-MS), KIF13B (Affinity Capture-MS), RALGPS2 (Affinity Capture-MS), RALGPS2 (Affinity Capture-MS), RALGPS2 (Affinity Capture-MS), GIGYF2 (Affinity Capture-MS), RALGPS2 (Affinity Capture-MS), RALGPS2 (Affinity Capture-MS), GIGYF1 (Affinity Capture-MS), RALGPS2 (Affinity Capture-MS), RALGPS2 (Affinity Capture-MS), CBY1 (Affinity Capture-MS)

ESM2 similar proteins: A2AR50, B0UXH6, D3ZAZ5, D4AB98, F1M386, F1MSG6, F1PBJ0, F7EL49, O60343, O75044, O97790, P0CE43, P42331, Q00IB7, Q13905, Q14155, Q15678, Q28CB1, Q4R7W3, Q58DL5, Q5JS13, Q5U2Z7, Q5ZJK0, Q60695, Q60949, Q62130, Q62136, Q6INE5, Q6INP9, Q6P112, Q6P549, Q7Z6B7, Q80TI1, Q86TI0, Q86X27, Q8BYJ6, Q8BYW1, Q8C4V1, Q8CHG7, Q8IV61

Diamond homologs: A2AR50, A2CEA7, B0M0P8, B0UXH6, F1M386, F1MSG6, F1PBJ0, O14827, P27671, P28818, P70392, Q03385, Q03386, Q07889, Q07890, Q12967, Q13905, Q13972, Q3MIN7, Q3UYI5, Q4R7W3, Q54FF3, Q54PQ4, Q54TK8, Q552M5, Q55GH9, Q5JS13, Q5ZJK0, Q60695, Q86G47, Q86X27, Q8CHG7, Q8IS14, Q8IS15, Q8IS16, Q8IS18, Q8IS20, Q8IS21, Q8SSQ0, Q8SSW7

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 57 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
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	8	125.0×	1e-13
Activation of BAD and translocation to mitochondria	7	123.9×	4e-12
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	7	109.4×	9e-12
Activation of BH3-only proteins	7	80.8×	7e-11
RHO GTPases activate PKNs	8	59.0×	3e-11
Intrinsic Pathway for Apoptosis	7	47.7×	3e-09
RAF activation	6	46.9×	5e-08
Signaling by high-kinase activity BRAF mutants	6	44.3×	7e-08

GO biological processes:

GO term	Partners	Fold	FDR
protein targeting	6	40.7×	3e-06
Ras protein signal transduction	6	22.8×	3e-05
MAPK cascade	6	17.0×	1e-04
intracellular protein localization	8	15.5×	9e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	72
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

4793 predictions. Top by Δscore:

Variant	Effect	Δscore
1:178784408:A:AG	acceptor_gain	1.0000
1:178784409:C:G	acceptor_gain	1.0000
1:178784413:A:AG	acceptor_gain	1.0000
1:178784417:GA:G	acceptor_gain	1.0000
1:178784417:GAAA:G	acceptor_gain	1.0000
1:178784417:GAAAA:G	acceptor_gain	1.0000
1:178784520:GCG:G	donor_gain	1.0000
1:178784520:GCGGT:G	donor_loss	1.0000
1:178784523:G:GG	donor_gain	1.0000
1:178784524:T:TC	donor_loss	1.0000
1:178785604:AGAT:A	donor_gain	1.0000
1:178785605:GAT:G	donor_gain	1.0000
1:178785605:GATG:G	donor_gain	1.0000
1:178785608:G:GG	donor_gain	1.0000
1:178808124:ATCAT:A	donor_gain	1.0000
1:178808125:TCAT:T	donor_gain	1.0000
1:178808126:CATGT:C	donor_loss	1.0000
1:178808128:TGTGA:T	donor_loss	1.0000
1:178808129:G:GG	donor_gain	1.0000
1:178808129:GTG:G	donor_loss	1.0000
1:178808130:T:A	donor_loss	1.0000
1:178808131:GAGT:G	donor_loss	1.0000
1:178811314:GGTAA:G	acceptor_gain	1.0000
1:178821603:A:G	acceptor_gain	1.0000
1:178833420:TTA:T	acceptor_loss	1.0000
1:178833421:TA:T	acceptor_loss	1.0000
1:178833422:A:AG	acceptor_gain	1.0000
1:178833423:G:GT	acceptor_gain	1.0000
1:178833423:GT:G	acceptor_gain	1.0000
1:178833423:GTT:G	acceptor_gain	1.0000

AlphaMissense

3848 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:178808063:T:A	W78R	1.000
1:178808063:T:C	W78R	1.000
1:178808065:G:C	W78C	1.000
1:178808065:G:T	W78C	1.000
1:178811343:T:C	L109P	1.000
1:178811367:G:C	R117T	1.000
1:178811367:G:T	R117I	1.000
1:178811368:A:C	R117S	1.000
1:178811368:A:T	R117S	1.000
1:178811399:G:C	A128P	1.000
1:178821616:T:C	L131P	1.000
1:178821664:T:C	L147P	1.000
1:178821685:G:C	R154T	1.000
1:178821685:G:T	R154M	1.000
1:178821688:T:C	L155S	1.000
1:178821688:T:G	L155W	1.000
1:178833504:A:C	R187S	1.000
1:178833504:A:T	R187S	1.000
1:178877600:G:C	R237P	1.000
1:178906823:T:A	W560R	1.000
1:178906823:T:C	W560R	1.000
1:178784521:C:A	A54E	0.999
1:178785567:C:A	T58K	0.999
1:178785588:T:C	F65S	0.999
1:178808049:T:C	L73P	0.999
1:178808064:G:C	W78S	0.999
1:178808120:T:C	F97L	0.999
1:178808122:C:A	F97L	0.999
1:178808122:C:G	F97L	0.999
1:178808125:T:A	N98K	0.999

dbSNP variants (sampled 300 via entrez): RS1000001605 (1:178763631 G>C), RS1000020725 (1:178847395 G>A), RS1000047323 (1:178801293 T>C), RS1000079363 (1:178839337 AAG>A), RS1000090913 (1:178851841 C>G,T), RS1000094630 (1:178751143 C>A), RS1000127572 (1:178833023 A>C), RS1000142540 (1:178884989 C>A,G), RS1000165373 (1:178883545 G>A), RS1000189727 (1:178747643 T>C), RS1000212959 (1:178796887 A>G), RS1000220649 (1:178786995 TTTTCCCCCA>T), RS1000231066 (1:178783315 G>A), RS1000244556 (1:178877028 A>G), RS1000256189 (1:178878747 C>G)

Disease associations

OMIM: gene MIM:617819 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

10 associations (top):

Study	Trait	p-value
GCST007429_56	Lung function (FVC)	2.000000e-11
GCST007432_34	FEV1	1.000000e-13
GCST010697_44	Cortical surface area (min-P)	8.000000e-17
GCST010698_45	Subcortical volume (min-P)	1.000000e-11
GCST010699_30	Brain morphology (min-P)	3.000000e-09
GCST010700_47	Cortical thickness (MOSTest)	2.000000e-10
GCST010701_132	Cortical surface area (MOSTest)	3.000000e-10
GCST010702_9	Subcortical volume (MOSTest)	4.000000e-08
GCST010703_34	Brain morphology (MOSTest)	8.000000e-09
GCST011426_3	Systemic lupus erythematosus	1.000000e-06

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004312	vital capacity
EFO:0004314	forced expiratory volume
EFO:0004346	neuroimaging measurement
EFO:0004840	cortical thickness

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression, affects expression, decreases expression, decreases methylation	4
bisphenol A	decreases expression, decreases methylation	2
sodium arsenite	decreases expression	2
potassium chromate(VI)	affects cotreatment, decreases expression	2
aristolochic acid I	decreases expression	1
FR900359	increases phosphorylation	1
dicrotophos	decreases expression	1
urushiol	increases expression	1
triphenyl phosphate	affects expression	1
trichostatin A	increases expression	1
cobaltous chloride	decreases expression	1
coumarin	decreases phosphorylation	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
chromium hexavalent ion	decreases expression	1
2-palmitoylglycerol	increases expression	1
Vorinostat	increases expression	1
Benzo(a)pyrene	affects methylation	1
Cadmium	decreases expression	1
Caffeine	affects phosphorylation	1
Calcitriol	increases expression	1
Cisplatin	decreases expression	1
Estradiol	increases expression	1
Folic Acid	decreases expression	1
Methotrexate	increases expression	1
Nickel	increases expression	1
Urethane	increases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1
Cyclosporine	increases expression	1
Aflatoxin B1	decreases methylation	1

Clinical trials (associated diseases)

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