RABEP2

Summary

RABEP2 (rabaptin, RAB GTPase binding effector protein 2, HGNC:24817) is a protein-coding gene on chromosome 16p11.2, encoding Rab GTPase-binding effector protein 2 (Q9H5N1). Plays a role in membrane trafficking and in homotypic early endosome fusion.

Predicted to enable GTPase activator activity and growth factor activity. Involved in regulation of cilium assembly. Located in Golgi apparatus; cytosol; and microtubule organizing center.

Source: NCBI Gene 79874 — RefSeq curated summary.

At a glance

• GWAS associations: 24
• Clinical variants (ClinVar): 114 total — 5 pathogenic
• MANE Select transcript: NM_024816

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24817
Approved symbol	RABEP2
Name	rabaptin, RAB GTPase binding effector protein 2
Location	16p11.2
Locus type	gene with protein product
Status	Approved
Aliases	FRA, FLJ23282
Ensembl gene	ENSG00000177548
Ensembl biotype	protein_coding
OMIM	611869
Entrez	79874

Gene structure

Transcript identifiers

Ensembl transcripts: 25 — 18 protein_coding, 3 protein_coding_CDS_not_defined, 3 retained_intron, 1 nonsense_mediated_decay

ENST00000357573, ENST00000358201, ENST00000544477, ENST00000561501, ENST00000561803, ENST00000562475, ENST00000562590, ENST00000563577, ENST00000564473, ENST00000564579, ENST00000566762, ENST00000567483, ENST00000568703, ENST00000570030, ENST00000873986, ENST00000873987, ENST00000873988, ENST00000971429, ENST00000971430, ENST00000971431, ENST00000971432, ENST00000971433, ENST00000971434, ENST00000971435, ENST00000971436

RefSeq mRNA: 1 — MANE Select: NM_024816 NM_024816

CCDS: CCDS42140

Canonical transcript exons

ENST00000358201 — 13 exons

Exon	Start	End
ENSE00001229237	28905704	28905759
ENSE00001229257	28906019	28906196
ENSE00001229265	28908609	28908764
ENSE00001229274	28910888	28910986
ENSE00001406503	28904421	28905044
ENSE00001425852	28905397	28905513
ENSE00001429551	28925103	28925238
ENSE00001714214	28905867	28905878
ENSE00003621409	28924403	28924615
ENSE00003652288	28919786	28919943
ENSE00003663286	28911084	28911179
ENSE00003674596	28914672	28914782
ENSE00003786764	28914236	28914586

Expression profiles

Bgee: expression breadth ubiquitous, 263 present calls, max score 97.00.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.2161 / max 203.1126, expressed in 1746 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
156922	5.0332	1718
207824	0.5058	257
156920	0.3208	196
156921	0.3077	154
156919	0.0486	18

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
pancreatic ductal cell	CL:0002079	97.00	gold quality
spleen	UBERON:0002106	94.57	gold quality
granulocyte	CL:0000094	92.48	gold quality
sural nerve	UBERON:0015488	92.20	gold quality
apex of heart	UBERON:0002098	91.95	gold quality
lymph node	UBERON:0000029	91.70	gold quality
small intestine Peyer’s patch	UBERON:0003454	90.96	gold quality
parotid gland	UBERON:0001831	90.72	gold quality
skin of leg	UBERON:0001511	90.23	gold quality
skin of abdomen	UBERON:0001416	90.08	gold quality
right adrenal gland cortex	UBERON:0035827	90.00	gold quality
mucosa of transverse colon	UBERON:0004991	89.89	gold quality
small intestine	UBERON:0002108	89.54	gold quality
right adrenal gland	UBERON:0001233	89.33	gold quality
vermiform appendix	UBERON:0001154	89.26	gold quality
lower esophagus mucosa	UBERON:0035834	89.25	gold quality
metanephros cortex	UBERON:0010533	89.16	gold quality
left adrenal gland	UBERON:0001234	89.05	gold quality
left adrenal gland cortex	UBERON:0035825	88.71	gold quality
tonsil	UBERON:0002372	88.64	gold quality
zone of skin	UBERON:0000014	88.44	gold quality
minor salivary gland	UBERON:0001830	88.35	gold quality
saliva-secreting gland	UBERON:0001044	88.10	gold quality
adrenal cortex	UBERON:0001235	87.91	gold quality
transverse colon	UBERON:0001157	87.87	gold quality
adrenal gland	UBERON:0002369	87.75	gold quality
prostate gland	UBERON:0002367	87.73	gold quality
esophagus mucosa	UBERON:0002469	87.62	gold quality
body of stomach	UBERON:0001161	87.31	gold quality
adenohypophysis	UBERON:0002196	87.22	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	10.02

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AP1, JUND

miRNA regulators (miRDB)

29 targeting RABEP2, 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-345-3P	99.89	70.23	1421
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-659-3P	99.85	70.69	1620
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-6766-5P	99.68	67.70	2325
HSA-MIR-670-5P	99.67	69.94	1565
HSA-MIR-1915-3P	99.58	66.79	1988
HSA-MIR-7106-5P	99.53	67.47	3574
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-122B-5P	99.46	70.81	1457
HSA-MIR-125A-5P	99.36	70.59	1640
HSA-MIR-125B-5P	99.36	70.36	1662
HSA-MIR-3922-3P	99.25	64.96	1136
HSA-MIR-3176	99.25	64.35	954
HSA-MIR-4292	99.16	65.57	1767
HSA-MIR-6791-5P	99.16	65.92	1844
HSA-MIR-491-5P	99.13	65.98	1468
HSA-MIR-4695-5P	99.06	64.87	1151
HSA-MIR-6840-3P	98.68	65.95	1923
HSA-MIR-4726-3P	98.49	63.89	1385
HSA-MIR-4518	98.12	66.82	1030
HSA-MIR-4443	98.02	66.25	1928
HSA-MIR-1266-5P	97.71	66.92	1052
HSA-MIR-558	97.50	67.16	977
HSA-MIR-4732-3P	97.15	65.45	881
HSA-MIR-4497	92.25	64.06	134

Literature-anchored findings (GeneRIF, showing 5)

• Pyk2 regulation is associated with increased expression of Fra-1 and JunD, activator protein-1 transcription factors known to be required for involucrin expression. (PMID:17205062)
• FRA-1 expression, including its intracellular localization, may be considered a useful marker for hyperplastic and neoplastic proliferative breast disorders (PMID:17254320)
• Phosphorylation regulates RABEP2 function. (PMID:29247183)
• Results found that H. pylori upregulates RABEP2 in human gastric epithelium. In addition, the level of RABEP2 expression increases with severity of gastric malignant lesions in vivo. (PMID:30455363)
• A cross-species approach using an in vivo evaluation platform in mice demonstrates that sequence variation in human RABEP2 modulates ischemic stroke outcomes. (PMID:36167069)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	rabep2	ENSDARG00000061213
mus_musculus	Rabep2	ENSMUSG00000030727
rattus_norvegicus	Rabep2	ENSRNOG00000018462
caenorhabditis_elegans		WBGENE00017161

Paralogs (1): RABEP1 (ENSG00000029725)

Protein

Protein identifiers

Rab GTPase-binding effector protein 2 — Q9H5N1 (reviewed: Q9H5N1)

Alternative names: Rabaptin-5beta

All UniProt accessions (7): B4DHR0, Q9H5N1, H3BMR7, H3BNR2, H3BNR8, H3BT64, H3BU67

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in membrane trafficking and in homotypic early endosome fusion. Participates in arteriogenesis by regulating vascular endothelial growth factor receptor 2/VEGFR2 cell surface expression and endosomal trafficking. By interacting with SDCCAG8, localizes to centrosomes and plays a critical role in ciliogenesis.

Subunit / interactions. Heterodimer with RABGEF1. The dimer binds RAB5A that has been activated by GTP-binding. Interacts with SDCCAG8; this interaction is important for ciliogenesis regulation. Interacts with RAB4A; this interaction may mediate VEGFR2 cell surface expression.

Subcellular location. Cytoplasm. Early endosome. Cytoskeleton. Microtubule organizing center. Centrosome. Cilium basal body.

Similarity. Belongs to the rabaptin family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9H5N1-1	1	yes
Q9H5N1-2	2

RefSeq proteins (1): NP_079092* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003914	Rabaptin	Family
IPR015390	Rabaptin_Rab5-bd_dom	Domain
IPR018514	Rabaptin_CC	Domain

Pfam: PF03528, PF09311

UniProt features (16 total): modified residue 5, region of interest 3, splice variant 2, coiled-coil region 2, compositionally biased region 2, initiator methionine 1, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H5N1-F1	79.02	0.55

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 (5): 189, 193, 200, 204, 2

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 137 (showing top): GSE45365_NK_CELL_VS_BCELL_DN, GOMF_GROWTH_FACTOR_ACTIVITY, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOCC_MICROTUBULE_ORGANIZING_CENTER, BOHN_PRIMARY_IMMUNODEFICIENCY_SYNDROM_DN, GOBP_REGULATION_OF_CELL_PROJECTION_ORGANIZATION, GOBP_CILIUM_ORGANIZATION, chr16p11, GOCC_CENTROSOME, TURASHVILI_BREAST_LOBULAR_CARCINOMA_VS_LOBULAR_NORMAL_DN, GOBP_ORGANELLE_ASSEMBLY, GOBP_REGULATION_OF_CILIUM_ASSEMBLY, GOBP_CELL_PROJECTION_ORGANIZATION, GOBP_REGULATION_OF_CELL_PROJECTION_ASSEMBLY

GO Biological Process (5): endocytosis (GO:0006897), protein transport (GO:0015031), cell projection organization (GO:0030030), regulation of cilium assembly (GO:1902017), signal transduction (GO:0007165)

GO Molecular Function (3): GTPase activator activity (GO:0005096), growth factor activity (GO:0008083), protein binding (GO:0005515)

GO Cellular Component (9): early endosome (GO:0005769), Golgi apparatus (GO:0005794), centrosome (GO:0005813), cytosol (GO:0005829), ciliary basal body (GO:0036064), cytoplasm (GO:0005737), endosome (GO:0005768), cytoskeleton (GO:0005856), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
cytoplasm	2
endomembrane system	2
microtubule organizing center	2
vesicle budding from membrane	1
membrane invagination	1
vesicle-mediated transport	1
import into cell	1
transport	1
intracellular protein localization	1
establishment of protein localization	1
cellular component organization	1
cilium assembly	1
regulation of plasma membrane bounded cell projection assembly	1
regulation of organelle assembly	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
GTPase activity	1
enzyme activator activity	1
GTPase regulator activity	1
receptor ligand activity	1
binding	1
endosome	1
intracellular membrane-bounded organelle	1
centriole	1
cilium	1
intracellular anatomical structure	1
cytoplasmic vesicle	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

992 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RABEP2	RABGEF1	Q9UJ41	903
RABEP2	RAB5A	P20339	676
RABEP2	TUFM	P49411	667
RABEP2	ATXN2L	Q8WWM7	654
RABEP2	ZNF324B	Q6AW86	633
RABEP2	SDCCAG8	Q86SQ7	613
RABEP2	EID2	Q8N6I1	575
RABEP2	NFATC2IP	Q8NCF5	571
RABEP2	SPNS1	Q9H2V7	570
RABEP2	APOBR	Q0VD83	565
RABEP2	SGF29	Q96ES7	560
RABEP2	EIF3C	Q99613	557
RABEP2	SH2B1	Q9NRF2	538
RABEP2	NUPR1	O60356	526
RABEP2	ATP2A1	O14983	506
RABEP2	NPIPB9	F8W1W9	506

IntAct

42 interactions, top by confidence:

A	B	Type	Score
EXOC1	EXOC5	psi-mi:“MI:0914”(association)	0.730
IFT57	IFT56	psi-mi:“MI:0914”(association)	0.640
SDCCAG8	RABEP2	psi-mi:“MI:0915”(physical association)	0.620
RAB4A	RABEP2	psi-mi:“MI:0915”(physical association)	0.550
CPNE2	HIP1	psi-mi:“MI:0914”(association)	0.530
ASB7	POLR3A	psi-mi:“MI:0914”(association)	0.530
CPNE5	RAD21	psi-mi:“MI:0914”(association)	0.530
KLC1	KIF5C	psi-mi:“MI:0914”(association)	0.530
ENTREP3	NEDD4	psi-mi:“MI:0914”(association)	0.530
CPNE2	DNM1L	psi-mi:“MI:0914”(association)	0.530
EXOC4	EXOC5	psi-mi:“MI:0914”(association)	0.510
RABEP2	FRAT1	psi-mi:“MI:0915”(physical association)	0.370
Dnaaf5	TPRN	psi-mi:“MI:0914”(association)	0.350
PB2	SEC15L3	psi-mi:“MI:0914”(association)	0.350
SDCCAG8	MYO1C	psi-mi:“MI:0914”(association)	0.350
SDCCAG8	ERC1	psi-mi:“MI:0914”(association)	0.350
FAM167A	SHTN1	psi-mi:“MI:0914”(association)	0.350
C19orf25	NBAS	psi-mi:“MI:0914”(association)	0.350
TMEM74	KLRG2	psi-mi:“MI:0914”(association)	0.350
INSYN1	CCDC85C	psi-mi:“MI:0914”(association)	0.350
FGFR1OP2	RGPD3	psi-mi:“MI:0914”(association)	0.350
NRSN1	FAM171A2	psi-mi:“MI:0914”(association)	0.350
EXOC1	RABGAP1L	psi-mi:“MI:0914”(association)	0.350
RABEP2	HECTD4	psi-mi:“MI:0914”(association)	0.350
RGS9BP	HGS	psi-mi:“MI:0914”(association)	0.350
RABGEF1	GAK	psi-mi:“MI:0914”(association)	0.350
LRRC61	INPPL1	psi-mi:“MI:0914”(association)	0.350
RABEP1	KIF20A	psi-mi:“MI:0914”(association)	0.350

BioGRID (125): RABEP2 (Biochemical Activity), RABEP2 (Affinity Capture-MS), RABEP2 (Affinity Capture-MS), RABEP2 (Two-hybrid), RABEP2 (Affinity Capture-MS), RABEP2 (Proximity Label-MS), RABEP2 (Affinity Capture-MS), RABEP2 (Affinity Capture-MS), RABEP2 (Affinity Capture-MS), RABEP2 (Affinity Capture-MS), RABEP2 (Affinity Capture-MS), RABEP2 (Affinity Capture-MS), RABEP2 (Affinity Capture-MS), RABEP2 (Affinity Capture-MS), RABEP2 (Affinity Capture-MS)

ESM2 similar proteins: A0PJP4, A0PJT0, A1A600, A2A6T1, A4IFK7, D3YV10, D3ZUQ0, G9G127, P97817, Q08379, Q0IHE5, Q0P4J3, Q17QG3, Q499E4, Q5EBL4, Q5RCR6, Q5RD32, Q5VU43, Q5XIA0, Q5XJA2, Q5ZJA3, Q61043, Q62839, Q6AYA0, Q6DFC2, Q6IP02, Q6NZT2, Q80YF0, Q86X02, Q86YS3, Q8BH60, Q8BQP8, Q8C2K1, Q8IYE1, Q8N4C6, Q91WG2, Q921M4, Q92574, Q969X0, Q96CN9

Diamond homologs: A4FUG8, Q5RCR6, Q62835, Q91WG2, Q9H5N1

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
SMURF1	unknown	RABEP2	ubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 61 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
Translocation of SLC2A4 (GLUT4) to the plasma membrane	5	20.3×	4e-04

GO biological processes:

GO term	Partners	Fold	FDR
endocytosis	6	11.0×	1e-03
protein transport	10	8.4×	7e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	5
Likely pathogenic	0
Uncertain significance	86
Likely benign	4
Benign	2

Top pathogenic / likely-pathogenic (5)

Variant ID	HGVS	Classification
2685564	GRCh37/hg19 16p11.2(chr16:28747521-29084772)x1	Pathogenic
2685567	GRCh37/hg19 16p11.2(chr16:28824491-29070000)x1	Pathogenic
442823	GRCh37/hg19 16p11.2(chr16:28819028-29043972)x1	Pathogenic
503583	GRCh37/hg19 16p11.2(chr16:28825605-29043450)x1	Pathogenic
979439	GRCh37/hg19 16p11.2(chr16:28336673-29358712)x1	Pathogenic

SpliceAI

2982 predictions. Top by Δscore:

Variant	Effect	Δscore
16:28905049:C:CT	acceptor_gain	1.0000
16:28905050:G:T	acceptor_gain	1.0000
16:28905054:C:CT	acceptor_gain	1.0000
16:28905055:G:T	acceptor_gain	1.0000
16:28905393:ATAC:A	donor_loss	1.0000
16:28905394:TA:T	donor_loss	1.0000
16:28905396:C:T	donor_loss	1.0000
16:28905509:TGGGC:T	acceptor_gain	1.0000
16:28905514:C:CC	acceptor_gain	1.0000
16:28905514:C:G	acceptor_loss	1.0000
16:28905515:T:G	acceptor_loss	1.0000
16:28906014:CTCAC:C	donor_loss	1.0000
16:28906015:TCACC:T	donor_loss	1.0000
16:28906018:C:CT	donor_loss	1.0000
16:28906018:CCTGT:C	donor_gain	1.0000
16:28906043:G:C	donor_gain	1.0000
16:28906078:T:TA	donor_gain	1.0000
16:28906192:AGCTC:A	acceptor_gain	1.0000
16:28906194:CTC:C	acceptor_gain	1.0000
16:28906195:TC:T	acceptor_gain	1.0000
16:28906196:CC:C	acceptor_gain	1.0000
16:28906197:C:CC	acceptor_gain	1.0000
16:28908603:G:C	donor_gain	1.0000
16:28908607:A:AC	donor_gain	1.0000
16:28908608:C:CC	donor_gain	1.0000
16:28908608:CTGG:C	donor_gain	1.0000
16:28910882:ACTC:A	donor_loss	1.0000
16:28910884:TCAC:T	donor_loss	1.0000
16:28910885:CACCA:C	donor_loss	1.0000
16:28910886:A:AC	donor_gain	1.0000

AlphaMissense

3637 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:28924496:C:G	A61P	0.997
16:28924420:A:G	L86P	0.996
16:28924408:A:G	L90P	0.995
16:28924466:C:G	A71P	0.995
16:28905421:G:C	F528L	0.994
16:28905421:G:T	F528L	0.994
16:28905423:A:G	F528L	0.994
16:28924502:C:G	A59P	0.994
16:28914718:A:G	L166P	0.993
16:28924473:C:A	K68N	0.993
16:28924473:C:G	K68N	0.993
16:28905413:A:G	L531P	0.991
16:28914760:A:G	L152P	0.991
16:28910934:A:G	L348P	0.990
16:28911127:A:G	L316P	0.990
16:28914706:A:G	L170P	0.990
16:28905401:A:G	L535P	0.989
16:28905422:A:G	F528S	0.989
16:28910943:A:G	L345P	0.989
16:28914270:A:T	V287D	0.989
16:28924485:G:C	S64R	0.989
16:28924485:G:T	S64R	0.989
16:28924487:T:G	S64R	0.989
16:28905411:A:G	S532P	0.987
16:28914312:A:T	V273D	0.987
16:28905452:A:G	L518P	0.986
16:28910976:A:G	L334P	0.986
16:28905422:A:C	F528C	0.984
16:28910956:A:G	S341P	0.984
16:28914458:G:C	F224L	0.984

dbSNP variants (sampled 300 via entrez): RS1000025229 (16:28905940 C>A,G,T), RS1000055504 (16:28923721 G>A), RS1000163657 (16:28915227 T>C,G), RS1000279228 (16:28922056 T>A), RS1000534233 (16:28922577 TAGTC>T), RS1000606377 (16:28922325 G>A), RS1000705449 (16:28908918 A>G), RS1000797473 (16:28921838 G>A), RS1000870858 (16:28910344 G>C), RS1000900319 (16:28926541 A>G), RS1001223863 (16:28908539 G>A), RS1001316125 (16:28916787 C>T), RS1001482647 (16:28904504 G>A), RS1001498832 (16:28909333 T>C), RS1001623400 (16:28916571 C>G,T)

Disease associations

OMIM: gene MIM:611869 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

24 associations (top):

Study	Trait	p-value
GCST001725_52	Inflammatory bowel disease	1.000000e-21
GCST001953_36	Obesity	7.000000e-09
GCST004131_83	Inflammatory bowel disease	2.000000e-12
GCST004132_69	Crohn’s disease	3.000000e-10
GCST006421_6	Cannabis use	1.000000e-09
GCST007044_23	Extremely high intelligence	2.000000e-08
GCST007293_116	Body fat distribution (arm fat ratio)	2.000000e-08
GCST007293_16	Body fat distribution (arm fat ratio)	4.000000e-09
GCST007293_43	Body fat distribution (arm fat ratio)	2.000000e-12
GCST007294_71	Body fat distribution (trunk fat ratio)	2.000000e-12
GCST007294_97	Body fat distribution (trunk fat ratio)	1.000000e-11
GCST007295_20	Body fat distribution (leg fat ratio)	3.000000e-06
GCST007295_44	Body fat distribution (leg fat ratio)	1.000000e-21
GCST007295_79	Body fat distribution (leg fat ratio)	2.000000e-24
GCST007324_96	Adventurousness	6.000000e-09
GCST008059_159	Estimated glomerular filtration rate	6.000000e-11
GCST009107_11	Body mass index variance	6.000000e-12
GCST009121_15	Body mass index	3.000000e-28
GCST009524_312	Household income (MTAG)	2.000000e-09
GCST010242_96	HDL cholesterol levels	3.000000e-08
GCST010703_152	Brain morphology (MOSTest)	3.000000e-09
GCST90020026_258	Hip index	8.000000e-09
GCST90020028_1493	Hip circumference adjusted for BMI	9.000000e-12
GCST90020029_564	Waist circumference adjusted for body mass index	2.000000e-08

EFO canonical traits (10, from GWAS)

EFO ID	Trait name
EFO:0007585	Cannabis use
EFO:0004337	intelligence
EFO:0004341	body fat distribution
EFO:0008579	risk-taking behaviour
EFO:0004340	body mass index
EFO:0009695	household income
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0004346	neuroimaging measurement
EFO:0008039	BMI-adjusted hip circumference
EFO:0007789	BMI-adjusted waist circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

24 total (human), top 24 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression, affects expression, decreases expression, affects cotreatment	7
Air Pollutants	affects cotreatment, increases abundance, increases expression, decreases expression	2
Estradiol	affects expression, decreases expression	2
alpha-pinene	affects cotreatment, increases expression, increases abundance	1
sodium arsenite	increases expression	1
cupric chloride	increases expression	1
methacrylaldehyde	affects cotreatment, increases expression, increases abundance	1
di-n-butylphosphoric acid	affects expression	1
jinfukang	increases expression	1
Zoledronic Acid	decreases expression	1
Vorinostat	decreases expression	1
Acrolein	affects cotreatment, increases expression, increases abundance	1
Caffeine	decreases phosphorylation	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Hydralazine	affects cotreatment, increases expression	1
Ozone	affects cotreatment, increases expression, increases abundance	1
Smoke	decreases expression	1
Thiram	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Cadmium Chloride	increases expression	1
tert-Butylhydroperoxide	decreases expression	1
Particulate Matter	decreases expression, increases abundance	1
Volatile Organic Compounds	affects cotreatment, increases expression	1

Clinical trials (associated diseases)

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