RAB4B

Summary

RAB4B (RAB4B, member RAS oncogene family, HGNC:9782) is a protein-coding gene on chromosome 19q13.2, encoding Ras-related protein Rab-4B (P61018). The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes.

Enables GTPase activity. Involved in D-glucose import; early endosome to Golgi transport; and endosomal vesicle fusion. Located in insulin-responsive compartment; perinuclear region of cytoplasm; and recycling endosome. Is active in early endosome membrane.

Source: NCBI Gene 53916 — RefSeq curated summary.

At a glance

• GWAS associations: 11
• MANE Select transcript: NM_016154

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9782
Approved symbol	RAB4B
Name	RAB4B, member RAS oncogene family
Location	19q13.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ78649, MGC52123
Ensembl gene	ENSG00000167578
Ensembl biotype	protein_coding
OMIM	612945
Entrez	53916

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 11 protein_coding, 3 retained_intron, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000357052, ENST00000378307, ENST00000594800, ENST00000597476, ENST00000598430, ENST00000600078, ENST00000602069, ENST00000602173, ENST00000858145, ENST00000858146, ENST00000858147, ENST00000858148, ENST00000858149, ENST00000939022, ENST00000939023, ENST00000971035

RefSeq mRNA: 1 — MANE Select: NM_016154 NM_016154

CCDS: CCDS33030

Canonical transcript exons

ENST00000357052 — 8 exons

Exon	Start	End
ENSE00001414417	40778247	40778391
ENSE00003466729	40780019	40780099
ENSE00003483754	40783921	40784075
ENSE00003583873	40786665	40786760
ENSE00003597551	40783778	40783840
ENSE00003627631	40780385	40780499
ENSE00003672309	40786848	40786978
ENSE00003715778	40796570	40796942

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 97.45.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.2388 / max 9.7597, expressed in 89 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
175903	11.0773	1785
175902	0.2388	89

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
C1 segment of cervical spinal cord	UBERON:0006469	97.45	gold quality
granulocyte	CL:0000094	97.31	gold quality
primary visual cortex	UBERON:0002436	97.03	gold quality
substantia nigra	UBERON:0002038	96.69	gold quality
Brodmann (1909) area 9	UBERON:0013540	96.55	gold quality
monocyte	CL:0000576	96.30	gold quality
leukocyte	CL:0000738	96.26	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	96.19	gold quality
Ammon’s horn	UBERON:0001954	96.11	gold quality
hypothalamus	UBERON:0001898	96.04	gold quality
putamen	UBERON:0001874	95.96	gold quality
right frontal lobe	UBERON:0002810	95.92	gold quality
temporal lobe	UBERON:0001871	95.80	gold quality
amygdala	UBERON:0001876	95.78	gold quality
superior frontal gyrus	UBERON:0002661	95.71	gold quality
cerebral cortex	UBERON:0000956	95.59	gold quality
anterior cingulate cortex	UBERON:0009835	95.56	gold quality
blood	UBERON:0000178	95.53	gold quality
mucosa of transverse colon	UBERON:0004991	95.52	gold quality
frontal cortex	UBERON:0001870	95.49	gold quality
prefrontal cortex	UBERON:0000451	95.16	gold quality
caudate nucleus	UBERON:0001873	95.12	gold quality
right adrenal gland	UBERON:0001233	94.97	gold quality
right adrenal gland cortex	UBERON:0035827	94.76	gold quality
brain	UBERON:0000955	94.74	gold quality
nucleus accumbens	UBERON:0001882	94.45	gold quality
adenohypophysis	UBERON:0002196	94.41	gold quality
pituitary gland	UBERON:0000007	94.15	gold quality
spleen	UBERON:0002106	94.14	gold quality
left adrenal gland	UBERON:0001234	93.89	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.98

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CIITA

miRNA regulators (miRDB)

41 targeting RAB4B, 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-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-6798-5P	100.00	65.77	699
HSA-MIR-4650-5P	99.98	64.69	999
HSA-MIR-7152-3P	99.97	67.47	849
HSA-MIR-4487	99.96	64.58	1252
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-16-5P	99.90	72.80	2780
HSA-MIR-195-5P	99.90	72.81	2805
HSA-MIR-6838-5P	99.89	71.94	2690
HSA-MIR-424-5P	99.89	71.90	2641
HSA-MIR-6763-5P	99.76	64.68	1767
HSA-MIR-3150A-3P	99.76	64.44	1640
HSA-MIR-3934-5P	99.67	64.04	846
HSA-MIR-6132	99.60	65.83	1554
HSA-MIR-6836-5P	99.60	65.62	1538
HSA-MIR-4254	99.11	65.15	1315
HSA-MIR-3619-5P	99.00	68.87	2308
HSA-MIR-887-5P	98.82	65.90	1347
HSA-MIR-214-3P	98.71	68.12	2128
HSA-MIR-761	98.71	68.07	2051
HSA-MIR-5572	98.55	65.84	970
HSA-MIR-4662A-5P	98.48	67.18	1007

Literature-anchored findings (GeneRIF, showing 5)

• Data conclude that Rab4b is a new important player in the control of GLUT4 trafficking in adipocyte. (PMID:19590752)
• Interaction between Rab4b and AP1gamma allows the budding of clathrin-coated vesicles for subsequent traffic to recycling endosomes. (PMID:24006255)
• real-time RT-PCR assays showed that expressions of MIA and MIA-RAB4B located 35 kb upstream of the deletion, were up-regulated in the polyps compared to the matched mucosa of the proband. MIA-RAB4B, the read-through long non-coding RNA (lncRNA), RAB4B, PIM2 and TAOK1 share common binding site of a microRNA, miR-24, in their 3’UTRs (PMID:28306719)
• knockdown of RAB4B reduces the release of intact virion particles, suggesting that it plays a role in virion assembly and egress. (PMID:29946045)
• the obesity-induced loss of Rab4b in adipose T cells may contribute to maladaptive white adipose tissue remodeling and insulin resistance by altering adipose T cell fate. (PMID:30566860)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	rab4b	ENSDARG00000012177
mus_musculus	Rab4b	ENSMUSG00000053291
rattus_norvegicus	Rab4b	ENSRNOG00000001500
drosophila_melanogaster	Rab4	FBGN0016701

Paralogs (68): RAB27B (ENSG00000041353), RAB27A (ENSG00000069974), RAB7A (ENSG00000075785), RABL2B (ENSG00000079974), RAB21 (ENSG00000080371), RAB10 (ENSG00000084733), RAB18 (ENSG00000099246), RAB36 (ENSG00000100228), IFT27 (ENSG00000100360), RAB40AL (ENSG00000102128), RAB11A (ENSG00000103769), RAB2A (ENSG00000104388), RAB3D (ENSG00000105514), RAB3A (ENSG00000105649), RAB5C (ENSG00000108774), RAB34 (ENSG00000109113), RAB5B (ENSG00000111540), RAB35 (ENSG00000111737), RAB23 (ENSG00000112210), DNAJC27 (ENSG00000115137), RAB29 (ENSG00000117280), RAB32 (ENSG00000118508), RAB14 (ENSG00000119396), RAB9B (ENSG00000123570), RAB9A (ENSG00000123595), RAB38 (ENSG00000123892), RAB22A (ENSG00000124209), RAB17 (ENSG00000124839), RAB2B (ENSG00000129472), RAB25 (ENSG00000132698), RAB33A (ENSG00000134594), RAB30 (ENSG00000137502), RAB1A (ENSG00000138069), RAB20 (ENSG00000139832), RAB15 (ENSG00000139998), RAB40B (ENSG00000141542), RAB13 (ENSG00000143545), RABL2A (ENSG00000144134), RAB5A (ENSG00000144566), RAB19 (ENSG00000146955)

Protein

Protein identifiers

Ras-related protein Rab-4B — P61018 (reviewed: P61018)

All UniProt accessions (3): P61018, F6SQB9, M0R0X1

UniProt curated annotations — full annotation on UniProt →

Function. The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. RAB4B mediates endosomal tethering and fusion through the interaction with RUFY1 and RAB14. Acts as a regulator of platelet alpha-granule release during activation and aggregation of platelets.

Subunit / interactions. Interacts (GTP-bound form) with RUFY1; the interaction allows endosomal tethering and fusion.

Subcellular location. Cell membrane. Early endosome membrane.

Post-translational modifications. Serotonylation of Gln-67 by TGM2 during activation and aggregation of platelets leads to constitutive activation of GTPase activity.

Activity regulation. Regulated by guanine nucleotide exchange factors (GEFs) which promote the exchange of bound GDP for free GTP. Regulated by GTPase activating proteins (GAPs) which increase the GTP hydrolysis activity. Inhibited by GDP dissociation inhibitors (GDIs).

Domain organisation. Switch 1, switch 2 and the interswitch regions are characteristic of Rab GTPases and mediate the interactions with Rab downstream effectors. The switch regions undergo conformational changes upon nucleotide binding which drives interaction with specific sets of effector proteins, with most effectors only binding to GTP-bound Rab.

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

Isoforms (2)

UniProt ID	Names	Canonical?
P61018-1	1	yes
P61018-2	2

RefSeq proteins (1): NP_057238* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001806	Small_GTPase	Family
IPR005225	Small_GTP-bd	Domain
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR041819	Rab4	Family
IPR050209	Rab_GTPases_membrane_traffic	Family

Pfam: PF00071

Catalyzed reactions (Rhea), 1 shown:

• GTP + H2O = GDP + phosphate + H(+) (RHEA:19669)

UniProt features (59 total): binding site 29, helix 9, strand 6, modified residue 5, short sequence motif 2, lipid moiety-binding region 2, initiator methionine 1, chain 1, splice variant 1, mutagenesis site 1, sequence conflict 1, turn 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2O52	X-RAY DIFFRACTION	2.2

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P61018-F1	88.81	0.70

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 (29): 21; 21; 22; 22; 22; 23; 23; 37; 39; 40; 40; 63 …

Post-translational modifications (7): 2, 67, 185, 193, 213, 211, 213

Mutagenesis-validated functional residues (1):

Position	Phenotype
67	gtp-locked. interacts with rufy1.

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-6798695	Neutrophil degranulation
R-HSA-8873719	RAB geranylgeranylation
R-HSA-8875656	MET receptor recycling

MSigDB gene sets: 201 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_UP, GOBP_CARBOHYDRATE_TRANSPORT, REACTOME_INNATE_IMMUNE_SYSTEM, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, GOCC_SECRETORY_GRANULE, LFA1_Q6, GOBP_VESICLE_ORGANIZATION, MODULE_45, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, CGGAARNGGCNG_UNKNOWN, GOBP_MEMBRANE_FUSION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT

GO Biological Process (7): protein transport (GO:0015031), vesicle-mediated transport (GO:0016192), regulation of endocytosis (GO:0030100), Rab protein signal transduction (GO:0032482), endosomal vesicle fusion (GO:0034058), early endosome to Golgi transport (GO:0034498), obsolete D-glucose import (GO:0046323)

GO Molecular Function (7): GTPase activity (GO:0003924), G protein activity (GO:0003925), GTP binding (GO:0005525), metal ion binding (GO:0046872), nucleotide binding (GO:0000166), protein binding (GO:0005515), hydrolase activity (GO:0016787)

GO Cellular Component (10): cytosol (GO:0005829), plasma membrane (GO:0005886), secretory granule membrane (GO:0030667), early endosome membrane (GO:0031901), insulin-responsive compartment (GO:0032593), perinuclear region of cytoplasm (GO:0048471), recycling endosome (GO:0055037), endosome (GO:0005768), membrane (GO:0016020), cytoplasmic vesicle membrane (GO:0030659)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Innate Immune System	1
Post-translational protein modification	1
Signaling by MET	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
transport	2
cytoplasm	2
secretory granule	2
cytoplasmic vesicle	2
intracellular protein localization	1
establishment of protein localization	1
cellular process	1
endocytosis	1
regulation of cellular component organization	1
regulation of vesicle-mediated transport	1
small GTPase-mediated signal transduction	1
vesicle fusion	1
retrograde transport, endosome to Golgi	1
Golgi vesicle transport	1
ribonucleoside triphosphate phosphatase activity	1
GTPase activity	1
molecular function regulator activity	1
guanyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
cation binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
catalytic activity	1
membrane	1
cell periphery	1
cytoplasmic vesicle membrane	1
bounding membrane of organelle	1
early endosome	1
endosome membrane	1
endosome	1
endomembrane system	1
vesicle membrane	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

31 interactions, top by confidence:

A	B	Type	Score
GDI1	RAB4A	psi-mi:“MI:0914”(association)	0.820
RAB4B	EXOC5	psi-mi:“MI:0915”(physical association)	0.720
EXOC5	RAB4B	psi-mi:“MI:0915”(physical association)	0.720
CDC45	RAB4B	psi-mi:“MI:0915”(physical association)	0.560
RAB4B	RABEP1	psi-mi:“MI:0915”(physical association)	0.560
RAB4B	VPS52	psi-mi:“MI:0915”(physical association)	0.560
RAB4B	GARIN6	psi-mi:“MI:0915”(physical association)	0.560
BOLA2-SMG1P6	RAB4B	psi-mi:“MI:0915”(physical association)	0.560
RAB4B	NSF	psi-mi:“MI:0914”(association)	0.350
CACNA1C	CACNB4	psi-mi:“MI:0914”(association)	0.350
SYNGAP1	POTEF	psi-mi:“MI:0914”(association)	0.350
CACNA1C	DISP2	psi-mi:“MI:0914”(association)	0.350
HCN1	POTEF	psi-mi:“MI:0914”(association)	0.350
GDI1	NADK	psi-mi:“MI:0914”(association)	0.350
RAB4A	CHM	psi-mi:“MI:0914”(association)	0.350
RAB4B	RABEP1	psi-mi:“MI:0915”(physical association)	0.000
RAB4B	VPS52	psi-mi:“MI:0915”(physical association)	0.000
RAB4B	GARIN6	psi-mi:“MI:0915”(physical association)	0.000
RAB4B	EXOC5	psi-mi:“MI:0915”(physical association)	0.000
BOLA2-SMG1P6	RAB4B	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (38): RAB4B (Two-hybrid), RAB4B (Synthetic Lethality), NSF (Affinity Capture-MS), PRDX1 (Affinity Capture-MS), SKIV2L (Affinity Capture-MS), TAF11 (Affinity Capture-MS), PRPF3 (Affinity Capture-MS), SNRNP200 (Affinity Capture-MS), PRPF6 (Affinity Capture-MS), NECAP1 (Affinity Capture-MS), RAB14 (Affinity Capture-MS), CHD8 (Affinity Capture-MS), TFB2M (Affinity Capture-MS), ARHGAP39 (Affinity Capture-MS), RNF170 (Affinity Capture-MS)

ESM2 similar proteins: A8NU18, D3Z8L7, G4N1S3, O08989, O14807, O42785, O93856, O95716, P01114, P08647, P0CQ42, P0CQ43, P10301, P10833, P22126, P28775, P35276, P46629, P51146, P51156, P56371, P59190, P61017, P61018, P62070, P62071, P70425, P70426, P97538, Q01387, Q05058, Q12526, Q1RMR4, Q29RR0, Q3SZA1, Q4X241, Q53B90, Q5BJQ5, Q63942, Q86YS6

Diamond homologs: A5D7F5, F1PTE3, H9BW96, O18333, O23561, O24461, P05712, P05714, P10536, P16976, P17609, P20338, P20791, P22125, P24409, P31022, P31584, P34140, P35282, P35286, P36409, P36410, P36411, P36861, P36862, P36863, P36864, P41924, P49103, P49104, P51146, P51153, P53994, P55745, P56371, P59279, P61017, P61018, P61019, P61026

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 17 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.

GO biological processes:

GO term	Partners	Fold	FDR
vesicle-mediated transport	5	32.1×	4e-05
protein transport	5	14.6×	1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

1054 predictions. Top by Δscore:

Variant	Effect	Δscore
19:40778392:G:GA	donor_loss	1.0000
19:40783772:CCACA:C	acceptor_loss	1.0000
19:40783773:CACA:C	acceptor_loss	1.0000
19:40783775:CA:C	acceptor_loss	1.0000
19:40783775:CAG:C	acceptor_loss	1.0000
19:40783776:A:AC	acceptor_loss	1.0000
19:40783777:G:A	acceptor_loss	1.0000
19:40783918:C:G	acceptor_gain	1.0000
19:40783918:CA:C	acceptor_loss	1.0000
19:40783919:A:AG	acceptor_gain	1.0000
19:40783919:A:AT	acceptor_loss	1.0000
19:40783919:A:C	acceptor_loss	1.0000
19:40783919:AGCC:A	acceptor_gain	1.0000
19:40783919:AGCCG:A	acceptor_gain	1.0000
19:40783920:G:GA	acceptor_gain	1.0000
19:40783920:G:GG	acceptor_gain	1.0000
19:40783920:G:T	acceptor_loss	1.0000
19:40783920:GCC:G	acceptor_gain	1.0000
19:40783920:GCCG:G	acceptor_gain	1.0000
19:40783920:GCCGG:G	acceptor_gain	1.0000
19:40784033:G:GT	donor_gain	1.0000
19:40784033:G:T	donor_gain	1.0000
19:40784071:GAATG:G	donor_gain	1.0000
19:40786661:GCAGA:G	acceptor_loss	1.0000
19:40786662:CAGA:C	acceptor_loss	1.0000
19:40786663:A:AG	acceptor_gain	1.0000
19:40786663:AGAGC:A	acceptor_loss	1.0000
19:40786664:G:GA	acceptor_gain	1.0000
19:40786664:GA:G	acceptor_gain	1.0000
19:40786664:GAGC:G	acceptor_gain	1.0000

AlphaMissense

1375 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:40780064:A:T	K21I	1.000
19:40780411:G:C	G42R	1.000
19:40780412:G:A	G42D	1.000
19:40780420:T:C	F45L	1.000
19:40780422:T:A	F45L	1.000
19:40780422:T:G	F45L	1.000
19:40780463:T:C	L59P	1.000
19:40780471:T:A	W62R	1.000
19:40780471:T:C	W62R	1.000
19:40780473:G:C	W62C	1.000
19:40780473:G:T	W62C	1.000
19:40780474:G:C	D63H	1.000
19:40780474:G:T	D63Y	1.000
19:40780475:A:C	D63A	1.000
19:40780475:A:G	D63G	1.000
19:40780475:A:T	D63V	1.000
19:40780476:C:A	D63E	1.000
19:40780476:C:G	D63E	1.000
19:40780483:G:C	G66R	1.000
19:40780483:G:T	G66C	1.000
19:40780484:G:A	G66D	1.000
19:40780495:T:A	F70I	1.000
19:40780495:T:C	F70L	1.000
19:40780497:T:A	F70L	1.000
19:40780497:T:G	F70L	1.000
19:40783813:G:A	G83E	1.000
19:40784011:G:C	K122N	1.000
19:40784011:G:T	K122N	1.000
19:40780030:A:G	K10E	0.999
19:40780032:A:C	K10N	0.999

dbSNP variants (sampled 300 via entrez): RS1000126726 (19:40795782 A>T), RS1000215381 (19:40785366 C>G), RS1000315692 (19:40791205 G>A), RS1000327350 (19:40790981 G>A,T), RS1000500606 (19:40795993 C>T), RS1000595513 (19:40786405 A>G,T), RS1000638916 (19:40792694 T>G), RS1000714092 (19:40785067 C>T), RS1000827255 (19:40776547 C>A), RS1000931237 (19:40776738 T>C), RS1001050434 (19:40781231 G>C,T), RS1001059672 (19:40781976 G>A), RS1001298853 (19:40797069 C>G), RS1001457878 (19:40780602 GCAGA>G), RS1001552924 (19:40782159 A>G)

Disease associations

OMIM: gene MIM:612945 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

11 associations (top):

Study	Trait	p-value
GCST001321_2	Chronic obstructive pulmonary disease	3.000000e-09
GCST001322_2	Kawasaki disease	2.000000e-12
GCST002945_35	Emphysema imaging phenotypes	2.000000e-06
GCST004147_15	Chronic obstructive pulmonary disease	6.000000e-08
GCST007602_6	Smoking behaviour (cigarettes smoked per day)	2.000000e-12
GCST007602_7	Smoking behaviour (cigarettes smoked per day)	3.000000e-12
GCST009921_7	Carotid intima media thickness (mean)	1.000000e-10
GCST90002382_466	Eosinophil percentage of white cells	4.000000e-11
GCST90002383_281	Hematocrit	3.000000e-12
GCST90002384_451	Hemoglobin	3.000000e-11
GCST90002403_296	Red blood cell count	3.000000e-13

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0007626	emphysema imaging measurement
EFO:0006525	cigarettes per day measurement
EFO:0007991	eosinophil percentage of leukocytes
EFO:0004348	hematocrit
EFO:0004509	hemoglobin measurement
EFO:0004305	erythrocyte count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

22 total (human), top 22 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol F	affects cotreatment, increases expression	1
beta-lapachone	increases expression	1
aflatoxin B2	decreases methylation	1
mitomycin C-DNA adduct	decreases expression	1
4-hydroxy-equilenin	decreases expression	1
CGP 52608	affects binding, increases reaction	1
Acetaminophen	increases expression	1
Calcitriol	increases expression, affects cotreatment	1
Dexamethasone	affects cotreatment, increases expression	1
Doxorubicin	decreases expression	1
Estradiol	decreases expression	1
Indomethacin	affects cotreatment, increases expression	1
Silicon Dioxide	decreases expression	1
Smoke	decreases expression	1
Testosterone	affects cotreatment, increases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
Aflatoxin B1	affects methylation	1
Antirheumatic Agents	decreases expression	1
Cadmium Chloride	increases expression	1
Okadaic Acid	decreases expression	1
Acrylamide	decreases expression	1
S-Nitrosoglutathione	increases expression	1

Clinical trials (associated diseases)

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