SH3RF3

Summary

SH3RF3 (SH3 domain containing ring finger 3, HGNC:24699) is a protein-coding gene on chromosome 2q13, encoding E3 ubiquitin-protein ligase SH3RF3 (Q8TEJ3). Has E3 ubiquitin-protein ligase activity.

Enables ubiquitin protein ligase activity. Involved in positive regulation of JNK cascade and protein autoubiquitination.

Source: NCBI Gene 344558 — RefSeq curated summary.

At a glance

• GWAS associations: 17
• Clinical variants (ClinVar): 1 total
• MANE Select transcript: NM_001099289

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24699
Approved symbol	SH3RF3
Name	SH3 domain containing ring finger 3
Location	2q13
Locus type	gene with protein product
Status	Approved
Aliases	FLJ00204, POSH2
Ensembl gene	ENSG00000172985
Ensembl biotype	protein_coding
OMIM	618933
Entrez	344558

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000309415

RefSeq mRNA: 1 — MANE Select: NM_001099289 NM_001099289

CCDS: CCDS74557

Canonical transcript exons

ENST00000309415 — 10 exons

Exon	Start	End
ENSE00001298936	109432501	109432671
ENSE00001336727	109398590	109398943
ENSE00001409452	109436893	109437146
ENSE00001420312	109419539	109419642
ENSE00001680891	109490605	109490936
ENSE00001684351	109501503	109504634
ENSE00001747131	109129205	109130113
ENSE00001770949	109347674	109347949
ENSE00002499209	109371586	109371681
ENSE00003468498	109449170	109449489

Expression profiles

Bgee: expression breadth ubiquitous, 226 present calls, max score 87.09.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.2994 / max 18.2500, expressed in 164 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
21921	0.2994	164

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
pancreatic ductal cell	CL:0002079	87.09	silver quality
ganglionic eminence	UBERON:0004023	86.07	gold quality
decidua	UBERON:0002450	84.83	gold quality
popliteal artery	UBERON:0002250	83.60	gold quality
tibial artery	UBERON:0007610	83.60	gold quality
aorta	UBERON:0000947	83.01	gold quality
tibialis anterior	UBERON:0001385	82.91	silver quality
tibia	UBERON:0000979	82.80	gold quality
cortical plate	UBERON:0005343	82.46	gold quality
ventricular zone	UBERON:0003053	82.24	gold quality
ascending aorta	UBERON:0001496	82.21	gold quality
thoracic aorta	UBERON:0001515	82.19	gold quality
descending thoracic aorta	UBERON:0002345	81.57	gold quality
saphenous vein	UBERON:0007318	81.54	gold quality
cardiac muscle of right atrium	UBERON:0003379	81.25	gold quality
right coronary artery	UBERON:0001625	81.21	gold quality
layer of synovial tissue	UBERON:0007616	81.20	gold quality
mucosa of paranasal sinus	UBERON:0005030	80.52	gold quality
coronary artery	UBERON:0001621	79.98	gold quality
stromal cell of endometrium	CL:0002255	79.88	gold quality
bronchial epithelial cell	CL:0002328	79.75	gold quality
urethra	UBERON:0000057	79.65	gold quality
left coronary artery	UBERON:0001626	79.50	gold quality
bronchus	UBERON:0002185	79.31	gold quality
pericardium	UBERON:0002407	79.10	silver quality
Brodmann (1909) area 46	UBERON:0006483	78.96	gold quality
tendon of biceps brachii	UBERON:0008188	78.86	silver quality
deltoid	UBERON:0001476	78.84	silver quality
penis	UBERON:0000989	77.79	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	77.67	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-GEOD-131882	yes	1919.21
E-CURD-119	yes	37.14
E-HCAD-35	yes	31.21
E-HCAD-25	yes	15.22
E-ANND-3	no	2.67

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

124 targeting SH3RF3, 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-6867-5P	100.00	82.21	3464
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-4455	100.00	65.48	1587
HSA-MIR-3925-3P	100.00	69.95	1237
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-LET-7D-5P	99.96	71.76	1632
HSA-MIR-4458	99.96	71.64	1650
HSA-MIR-1236-3P	99.94	68.04	1695
HSA-MIR-6768-5P	99.92	67.36	1942

Literature-anchored findings (GeneRIF, showing 3)

• POSH2 was found to have a conserved N-terminal extension not present in POSH1 and POSH3. POSH2 has GTP-loaded Rac1 binding activity and this activity was mapped to a partial Cdc42/Rac-interactive binding (CRIB) domain. (PMID:20696164)
• SH3RF3 promotes breast cancer stem-like properties via JNK activation and PTX3 upregulation. (PMID:32427938)
• MiR-192-5p inhibits proliferation, migration, and invasion in papillary thyroid carcinoma cells by regulation of SH3RF3. (PMID:34486645)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	SH3RF3	ENSDARG00000102334
mus_musculus	Sh3rf3	ENSMUSG00000037990
rattus_norvegicus	Sh3rf3	ENSRNOG00000046791
drosophila_melanogaster	Dlish	FBGN0034264
drosophila_melanogaster	EndoB	FBGN0034433
caenorhabditis_elegans		WBGENE00001335
caenorhabditis_elegans		WBGENE00012891
caenorhabditis_elegans		WBGENE00015128

Paralogs (12): SORBS1 (ENSG00000095637), SH3GLB1 (ENSG00000097033), NCF4 (ENSG00000100365), SH3GL2 (ENSG00000107295), SH3D19 (ENSG00000109686), SORBS3 (ENSG00000120896), SH3GL3 (ENSG00000140600), SH3GL1 (ENSG00000141985), SH3GLB2 (ENSG00000148341), SH3RF1 (ENSG00000154447), SORBS2 (ENSG00000154556), SH3RF2 (ENSG00000156463)

Protein

Protein identifiers

E3 ubiquitin-protein ligase SH3RF3 — Q8TEJ3 (reviewed: Q8TEJ3)

Alternative names: Plenty of SH3s 2, SH3 domain-containing RING finger protein 3, SH3 multiple domains protein 4

All UniProt accessions (1): Q8TEJ3

UniProt curated annotations — full annotation on UniProt →

Function. Has E3 ubiquitin-protein ligase activity.

Subunit / interactions. Interacts (via SH3 domain 3) with PAK2. Interacts with RAC1 (GTP-bound form).

Post-translational modifications. Autoubiquitinated.

Domain organisation. The RING finger domain is required for ubiquitin ligase activity and autoubiquitination.

Pathway. Protein modification; protein ubiquitination.

Similarity. Belongs to the SH3RF family.

RefSeq proteins (1): NP_001092759* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001452	SH3_domain	Domain
IPR001841	Znf_RING	Domain
IPR013083	Znf_RING/FYVE/PHD	Homologous_superfamily
IPR017907	Znf_RING_CS	Conserved_site
IPR027370	Znf-RING_euk	Domain
IPR028502	SH3RF3_RING-HC_Zfn	Domain
IPR035612	SH3RF3_SH3_3	Domain
IPR035816	SH3RF1/SH3RF3_SH3_4	Domain
IPR036028	SH3-like_dom_sf	Homologous_superfamily
IPR050384	Endophilin_SH3RF	Family

Pfam: PF00018, PF13445, PF14604

UniProt features (25 total): region of interest 7, compositionally biased region 5, mutagenesis site 5, domain 4, modified residue 2, chain 1, zinc finger region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8TEJ3-F1	59.15	0.29

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 (2): 400, 797

Mutagenesis-validated functional residues (5):

Position	Phenotype
73	significant reduction in autoubiquitination; when associated with a-75.
75	significant reduction in autoubiquitination; when associated with a-73.
403	significant loss of interaction with rac1; alone or when associated with p-404 and a-406.
404	reduced jnk activation. significant loss of interaction with rac1; alone or when associated with n-403 and a-406.
406	significant loss of interaction with rac1; when associated with n-403 and p-404.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 85 (showing top): GSE45365_NK_CELL_VS_CD8_TCELL_DN, GOBP_POSITIVE_REGULATION_OF_MAPK_CASCADE, CERVERA_SDHB_TARGETS_1_DN, GOBP_JNK_CASCADE, GOBP_PROTEIN_AUTOUBIQUITINATION, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, SENESE_HDAC3_TARGETS_DN, KRIGE_RESPONSE_TO_TOSEDOSTAT_24HR_UP, GOMF_ACYLTRANSFERASE_ACTIVITY, GOMF_AMINOACYLTRANSFERASE_ACTIVITY, GOMF_UBIQUITIN_LIKE_PROTEIN_LIGASE_ACTIVITY, GSE13522_WT_VS_IFNG_KO_SKIN_DN, MEISSNER_NPC_HCP_WITH_H3K4ME3_AND_H3K27ME3, MIKKELSEN_MCV6_HCP_WITH_H3K27ME3

GO Biological Process (4): protein ubiquitination (GO:0016567), positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436), positive regulation of JNK cascade (GO:0046330), protein autoubiquitination (GO:0051865)

GO Molecular Function (5): zinc ion binding (GO:0008270), ubiquitin protein ligase activity (GO:0061630), protein binding (GO:0005515), transferase activity (GO:0016740), metal ion binding (GO:0046872)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein modification by small protein conjugation	1
regulation of proteasomal ubiquitin-dependent protein catabolic process	1
proteasome-mediated ubiquitin-dependent protein catabolic process	1
positive regulation of proteasomal protein catabolic process	1
positive regulation of ubiquitin-dependent protein catabolic process	1
JNK cascade	1
positive regulation of MAPK cascade	1
regulation of JNK cascade	1
protein ubiquitination	1
transition metal ion binding	1
ubiquitin-protein transferase activity	1
ubiquitin-like protein ligase activity	1
binding	1
catalytic activity	1
cation binding	1

Protein interactions and networks

STRING

998 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SH3RF3	ZFYVE28	Q9HCC9	483
SH3RF3	UXS1	Q8NBZ7	476
SH3RF3	ASMTL	O95671	475
SH3RF3	AKAP17A	Q02040	462
SH3RF3	SEPTIN10	Q9P0V9	462
SH3RF3	EDAR	Q9UNE0	454
SH3RF3	ZCCHC24	Q8N2G6	451
SH3RF3	TMEM140	Q9NV12	446
SH3RF3	ARHGAP31	Q2M1Z3	444
SH3RF3	VWA5B2	Q8N398	441
SH3RF3	PAK2	Q13177	430
SH3RF3	PACSIN1	Q9BY11	430
SH3RF3	PDLIM1	O00151	412
SH3RF3	TNK2	Q07912	406
SH3RF3	ERICH2	A1L162	400
SH3RF3	GREB1	Q4ZG55	400

IntAct

55 interactions, top by confidence:

A	B	Type	Score
YWHAG	BLTP3B	psi-mi:“MI:0914”(association)	0.640
YWHAB	BLTP3B	psi-mi:“MI:0914”(association)	0.610
YWHAH	BLTP3B	psi-mi:“MI:0914”(association)	0.570
SH3RF3	RAC1	psi-mi:“MI:0915”(physical association)	0.540
RAC1	SH3RF3	psi-mi:“MI:0915”(physical association)	0.540
SH3RF3	RAC1	psi-mi:“MI:0407”(direct interaction)	0.540
SH3RF3	PAK2	psi-mi:“MI:0915”(physical association)	0.520
PAK2	SH3RF3	psi-mi:“MI:0915”(physical association)	0.520
SH3RF3	HSP90B1	psi-mi:“MI:0915”(physical association)	0.400
nef	SH3RF3	psi-mi:“MI:0915”(physical association)	0.400
SH3RF3	ADAM15	psi-mi:“MI:0915”(physical association)	0.400
SH3RF3	UBC	psi-mi:“MI:0915”(physical association)	0.400
SIAH2	OGDH	psi-mi:“MI:0914”(association)	0.350
YWHAB	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
YWHAG	C1orf226	psi-mi:“MI:0914”(association)	0.350
YWHAE	DEPDC5	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
KLHL22	TRAV18	psi-mi:“MI:0914”(association)	0.350
CREB3L2	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
SH3RF3	DCLK1	psi-mi:“MI:0915”(physical association)	0.000
SH3RF3	SIPA1L1	psi-mi:“MI:0915”(physical association)	0.000
SH3RF3	MAST3	psi-mi:“MI:0915”(physical association)	0.000
SH3RF3	SRGAP2	psi-mi:“MI:0915”(physical association)	0.000
SH3RF3	GIGYF1	psi-mi:“MI:0915”(physical association)	0.000
SH3RF3	NF1	psi-mi:“MI:0915”(physical association)	0.000
SH3RF3	CDC25C	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (73): KCTD3 (Affinity Capture-MS), KIF13B (Affinity Capture-MS), CGN (Affinity Capture-MS), ZBTB21 (Affinity Capture-MS), SH3RF3 (Affinity Capture-MS), GIGYF1 (Affinity Capture-MS), LPIN3 (Affinity Capture-MS), LRFN1 (Affinity Capture-MS), RTKN (Affinity Capture-MS), DENND4C (Affinity Capture-MS), MAST3 (Affinity Capture-MS), DENND1A (Affinity Capture-MS), SH3PXD2A (Affinity Capture-MS), SRGAP2 (Affinity Capture-MS), PPM1H (Affinity Capture-MS)

ESM2 similar proteins: A1L1I3, A5PKW4, O08919, O70405, O75385, O75420, O75553, P16554, P42128, P49757, P53814, P85037, P97318, P98081, Q04637, Q2LC84, Q3UCQ1, Q4KMP7, Q5DTT2, Q5I1X5, Q5RBR0, Q5VZ18, Q69ZH9, Q69ZI1, Q7TN02, Q7Z6J0, Q80VC9, Q80XI3, Q80Z38, Q86V15, Q8BGT6, Q8BHL3, Q8BSD5, Q8C120, Q8CI12, Q8IY33, Q8K4J6, Q8N3F8, Q8TEH3, Q8TEJ3

Diamond homologs: A0JNJ1, A1CEK6, A1DFN5, A2QW93, A4RF61, A6QLK6, A7A261, F1LRS8, O35179, O35964, O43307, O74749, O75791, O75886, O88811, O89100, O93436, P02549, P07751, P09215, P09216, P10830, P13395, P16054, P16086, P16546, P23298, P24723, P28867, P29355, P32793, P34885, P38753, P43603, P53281, P62993, P62994, P70297, P87379, P97306

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
Ub:E2	“up-regulates activity”	SH3RF3	ubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 51 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	5	90.8×	4e-07
RHO GTPases activate PKNs	6	51.4×	4e-07
G2/M Checkpoints	6	21.8×	2e-05
Translocation of SLC2A4 (GLUT4) to the plasma membrane	5	20.9×	2e-04
G2/M DNA damage checkpoint	5	16.2×	4e-04
RHO GTPase Effectors	7	12.9×	4e-05
Cell Cycle Checkpoints	5	12.0×	1e-03
Transcriptional Regulation by TP53	6	10.1×	7e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

4320 predictions. Top by Δscore:

Variant	Effect	Δscore
2:109130114:G:GG	donor_gain	1.0000
2:109130114:GTGA:G	donor_loss	1.0000
2:109347669:TGCA:T	acceptor_loss	1.0000
2:109347670:GCA:G	acceptor_loss	1.0000
2:109347671:CAGA:C	acceptor_loss	1.0000
2:109347672:A:AG	acceptor_gain	1.0000
2:109347672:A:AT	acceptor_loss	1.0000
2:109347673:G:GG	acceptor_gain	1.0000
2:109347673:GA:G	acceptor_gain	1.0000
2:109347673:GAATC:G	acceptor_gain	1.0000
2:109347951:T:G	donor_loss	1.0000
2:109371536:A:AG	acceptor_gain	1.0000
2:109371536:ATT:A	acceptor_gain	1.0000
2:109371536:ATTGT:A	acceptor_gain	1.0000
2:109371537:T:G	acceptor_gain	1.0000
2:109371538:T:A	acceptor_gain	1.0000
2:109371540:T:TA	acceptor_gain	1.0000
2:109371542:T:TA	acceptor_gain	1.0000
2:109371544:T:TA	acceptor_gain	1.0000
2:109371546:T:TA	acceptor_gain	1.0000
2:109371550:C:A	acceptor_gain	1.0000
2:109371553:A:AG	acceptor_gain	1.0000
2:109371553:AT:A	acceptor_gain	1.0000
2:109371554:T:G	acceptor_gain	1.0000
2:109371554:T:TA	acceptor_gain	1.0000
2:109371558:T:TA	acceptor_gain	1.0000
2:109371560:T:TA	acceptor_gain	1.0000
2:109371565:AC:A	acceptor_gain	1.0000
2:109371565:ACGGT:A	acceptor_gain	1.0000
2:109371566:C:CA	acceptor_gain	1.0000

AlphaMissense

5661 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:109129709:T:A	C57S	1.000
2:109129709:T:C	C57R	1.000
2:109129710:G:A	C57Y	1.000
2:109129710:G:C	C57S	1.000
2:109129711:C:G	C57W	1.000
2:109129718:T:C	C60R	1.000
2:109129752:T:C	L71P	1.000
2:109129757:T:C	C73R	1.000
2:109129758:G:A	C73Y	1.000
2:109129765:C:A	H75Q	1.000
2:109129765:C:G	H75Q	1.000
2:109129769:T:C	F77L	1.000
2:109129770:T:C	F77S	1.000
2:109129770:T:G	F77C	1.000
2:109129771:C:A	F77L	1.000
2:109129771:C:G	F77L	1.000
2:109129772:T:C	C78R	1.000
2:109129773:G:A	C78Y	1.000
2:109129774:C:G	C78W	1.000
2:109129781:T:C	C81R	1.000
2:109129785:T:C	L82P	1.000
2:109129820:T:A	C94S	1.000
2:109129820:T:C	C94R	1.000
2:109129821:G:A	C94Y	1.000
2:109129821:G:C	C94S	1.000
2:109129822:C:G	C94W	1.000
2:109129829:T:A	C97S	1.000
2:109129829:T:C	C97R	1.000
2:109129830:G:C	C97S	1.000
2:109129863:T:C	L108P	1.000

dbSNP variants (sampled 300 via entrez): RS1000001447 (2:109494755 A>T), RS1000011024 (2:109185342 G>T), RS1000014075 (2:109313734 T>C), RS1000021593 (2:109458965 G>A), RS1000031159 (2:109133383 T>A), RS1000033237 (2:109423047 C>T), RS1000033478 (2:109274618 A>G), RS1000033592 (2:109495162 G>A), RS1000042560 (2:109350222 T>G), RS1000042917 (2:109176427 A>G), RS1000056180 (2:109320286 T>G), RS1000058547 (2:109350495 A>G,T), RS1000072618 (2:109471232 G>A,T), RS1000083077 (2:109335143 C>G,T), RS1000098089 (2:109483976 C>T)

Disease associations

OMIM: gene MIM:618933 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

17 associations (top):

Study	Trait	p-value
GCST003474_7	Scalp hair shape	3.000000e-119
GCST003475_4	Beard thickness	1.000000e-15
GCST003477_5	Monobrow thickness	1.000000e-07
GCST004407_1	Neurocognitive impairment in HIV-1 infection (dichotomous)	7.000000e-07
GCST005653_2	Cleft lip with or without cleft palate (maternal periconceptional alcohol intake interaction)	4.000000e-07
GCST006979_17	Heel bone mineral density	2.000000e-09
GCST007469_12	Rapid automatized naming of digits	4.000000e-06
GCST008017_6	Bitter taste perception (6-n-propylthiouracil) in obesity with metabolic syndrome	5.000000e-06
GCST008839_156	Height	3.000000e-06
GCST010698_79	Subcortical volume (min-P)	3.000000e-12
GCST010699_43	Brain morphology (min-P)	2.000000e-08
GCST010700_12	Cortical thickness (MOSTest)	4.000000e-13
GCST010701_99	Cortical surface area (MOSTest)	1.000000e-12
GCST010702_30	Subcortical volume (MOSTest)	7.000000e-11
GCST010703_333	Brain morphology (MOSTest)	2.000000e-10
GCST012490_299	Femur bone mineral density x serum urate levels interaction	8.000000e-10
GCST90013421_24	Left-handedness	1.000000e-08

EFO canonical traits (9, from GWAS)

EFO ID	Trait name
EFO:0007998	cognitive impairment measurement
EFO:0003959	cleft lip
EFO:0009113	alcohol exposure measurement
EFO:0009270	heel bone mineral density
EFO:0005301	reading and spelling ability
EFO:0004346	neuroimaging measurement
EFO:0004840	cortical thickness
EFO:0004531	urate measurement
EFO:0009902	handedness

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression	3
Tobacco Smoke Pollution	affects expression, decreases expression, increases methylation	3
Valproic Acid	increases expression, affects expression	3
Aflatoxin B1	decreases expression, increases methylation	3
lasiocarpine	decreases expression	1
methyleugenol	decreases expression	1
bisphenol A	affects cotreatment, increases methylation	1
ethyl-p-hydroxybenzoate	increases expression	1
dimethylselenide	decreases expression, increases oxidation	1
sulforaphane	increases expression	1
zinc chromate	decreases expression, increases abundance	1
manganese chloride	decreases expression, increases abundance	1
benzo(e)pyrene	affects methylation	1
aflatoxin B2	increases methylation	1
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, decreases expression	1
chromium hexavalent ion	decreases expression, increases abundance	1
abrine	decreases expression	1
bisphenol S	increases methylation	1
(+)-JQ1 compound	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Sunitinib	decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Acetaminophen	increases expression	1
Arsenic	affects methylation	1
Carbamazepine	affects expression	1
Doxorubicin	decreases expression	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Estradiol	affects cotreatment, increases expression	1
Lipopolysaccharides	decreases expression, affects cotreatment	1
Manganese	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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