RAB3C

Summary

RAB3C (RAB3C, member RAS oncogene family, HGNC:30269) is a protein-coding gene on chromosome 5q11.2, encoding Ras-related protein Rab-3C (Q96E17). The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes.

This gene is a member of the RAS oncogene family and encodes a small GTPase. Other similar small GTPases are known to be involved in vesicle trafficking, and the encoded protein was shown to play a role in recycling phagocytosed MHC class 1 complexes to the cell surface. Two transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 115827 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 31 total
• MANE Select transcript: NM_138453

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30269
Approved symbol	RAB3C
Name	RAB3C, member RAS oncogene family
Location	5q11.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000152932
Ensembl biotype	protein_coding
OMIM	612829
Entrez	115827

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 3 protein_coding_CDS_not_defined, 1 protein_coding

ENST00000282878, ENST00000381158, ENST00000507977, ENST00000513316

RefSeq mRNA: 2 — MANE Select: NM_138453 NM_001317915, NM_138453

CCDS: CCDS3976

Canonical transcript exons

ENST00000282878 — 5 exons

Exon	Start	End
ENSE00001136179	58617643	58617870
ENSE00001314284	58583075	58583232
ENSE00001951600	58851164	58859394
ENSE00003583839	58825038	58825162
ENSE00003644800	58726002	58726120

Expression profiles

Bgee: expression breadth ubiquitous, 179 present calls, max score 98.57.

FANTOM5 (CAGE): breadth broad, TPM avg 11.2480 / max 588.4982, expressed in 464 samples.

FANTOM5 promoters (10 alternative TSS)

Promoter ID	TPM avg	Samples expressed
56560	5.2422	290
56557	3.2725	427
56561	1.2224	168
56559	0.7486	146
56556	0.2995	132
56555	0.1288	68
56563	0.1276	65
56566	0.0909	22
56562	0.0683	43
56558	0.0471	20

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lateral nuclear group of thalamus	UBERON:0002736	98.57	gold quality
substantia nigra pars compacta	UBERON:0001965	96.80	gold quality
substantia nigra pars reticulata	UBERON:0001966	96.19	gold quality
Brodmann (1909) area 46	UBERON:0006483	96.16	gold quality
middle temporal gyrus	UBERON:0002771	96.04	gold quality
superior frontal gyrus	UBERON:0002661	93.76	gold quality
Brodmann (1909) area 23	UBERON:0013554	93.03	gold quality
superior vestibular nucleus	UBERON:0007227	92.85	gold quality
islet of Langerhans	UBERON:0000006	92.13	gold quality
postcentral gyrus	UBERON:0002581	92.06	gold quality
prefrontal cortex	UBERON:0000451	91.92	gold quality
parietal lobe	UBERON:0001872	91.70	gold quality
pons	UBERON:0000988	91.49	gold quality
lateral globus pallidus	UBERON:0002476	90.12	gold quality
frontal cortex	UBERON:0001870	89.84	gold quality
frontal lobe	UBERON:0016525	89.84	gold quality
hypothalamus	UBERON:0001898	89.56	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	89.37	gold quality
entorhinal cortex	UBERON:0002728	88.99	gold quality
neocortex	UBERON:0001950	88.75	gold quality
cerebral cortex	UBERON:0000956	88.15	gold quality
Brodmann (1909) area 9	UBERON:0013540	87.98	gold quality
anterior cingulate cortex	UBERON:0009835	87.05	gold quality
ventral tegmental area	UBERON:0002691	86.87	gold quality
cortical plate	UBERON:0005343	86.51	gold quality
nucleus accumbens	UBERON:0001882	86.43	gold quality
forebrain	UBERON:0001890	86.39	gold quality
midbrain	UBERON:0001891	85.47	gold quality
brain	UBERON:0000955	85.37	gold quality
substantia nigra	UBERON:0002038	85.28	gold quality

Single-cell (SCXA)

Detected in 7 experiment(s), a significant marker in 7.

Experiment	Marker?	Max mean expression
E-HCAD-35	yes	80.35
E-HCAD-25	yes	43.51
E-MTAB-5061	yes	25.79
E-GEOD-83139	yes	8.31
E-ANND-3	yes	6.80
E-GEOD-125970	yes	4.36
E-HCAD-10	yes	3.85

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

364 targeting RAB3C, 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-8485	100.00	77.57	4731
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-3064-3P	100.00	70.09	1254
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-12118	100.00	65.88	1270
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-4282	99.99	75.36	6408
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-520G-5P	99.99	66.76	658

Literature-anchored findings (GeneRIF, showing 4)

• cloning, mapping, and characterization; expressed in the brain, placenta, and lung; maps to chromosome 5q13 (PMID:12296628)
• Rab3b/3c-positive recycling vesicles are involved in and may constitute one of the recycling compartments in exogenous antigen cross-presentation. (PMID:19717423)
• Studied role of RAB3C overexpression in tumor metastasis and poor prognosis of colorectal cancer. Found RAB3c is associated with modulating exocytosis of IL-6 in cancer cells, leading to activation of the IL6-JAK2-STAT3 pathway. (PMID:28784136)
• Overexpression of synaptic vesicle protein Rab GTPase 3C promotes vesicular exocytosis and drug resistance in colorectal cancer cells. (PMID:36652260)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	rab3c	ENSDARG00000014462
mus_musculus	Rab3c	ENSMUSG00000021700
rattus_norvegicus	Rab3c	ENSRNOG00000011623

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-3C — Q96E17 (reviewed: Q96E17)

All UniProt accessions (1): Q96E17

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 sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion.

Subunit / interactions. Interacts with RIMS1, RIMS2, RPH3A and RPH3AL. The GTP-bound form interacts with REP15. Interacts with GDI2, CHM and CHML; phosphorylation at Thr-94 disrupts these interactions. Interacts with MADD (via uDENN domain); the GTP-bound form is preferred for interaction.

Subcellular location. Cell membrane.

Tissue specificity. Expressed in brain, placenta and lung.

Post-translational modifications. Phosphorylation of Thr-94 in the switch II region by LRRK2 prevents the association of RAB regulatory proteins, including CHM, CHML and RAB GDP dissociation inhibitor GDI2.

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) which prevent Rab-GDP dissociation.

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.

RefSeq proteins (2): NP_001304844, NP_612462* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001806	Small_GTPase	Family
IPR005225	Small_GTP-bd	Domain
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR037872	Rab3	Family
IPR050305	Small_GTPase_Rab	Family

Pfam: PF00071

Catalyzed reactions (Rhea), 1 shown:

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

UniProt features (44 total): binding site 18, helix 7, strand 6, modified residue 5, short sequence motif 2, lipid moiety-binding region 2, mutagenesis site 2, chain 1, turn 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
6Y7G	X-RAY DIFFRACTION	2.3

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96E17-F1	83.20	0.63

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 (18): 57; 61; 62; 62; 85; 88; 143; 144; 146; 174; 175; 39 …

Post-translational modifications (7): 94, 196, 198, 206, 227, 225, 227

Mutagenesis-validated functional residues (2):

Position	Phenotype
94	loss of phosphorylation. no effect on gdi2, chm and chml binding.
94	phosphomimetic mutant. loss of gdi2, chm and chml binding.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-8873719	RAB geranylgeranylation

MSigDB gene sets: 200 (showing top): FXR_IR1_Q6, SHEPARD_BMYB_MORPHOLINO_UP, GOBP_REGULATION_OF_EXOCYTOSIS, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, GOBP_VESICLE_MEDIATED_TRANSPORT, CAGCTG_AP4_Q5, GOBP_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT, NKX61_01, GOBP_EXOCYTOSIS, GATA3_01, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM2, GOBP_ANTIGEN_PROCESSING_AND_PRESENTATION, TGCTGAY_UNKNOWN, GATA1_01, GOBP_SECRETION

GO Biological Process (4): exocytosis (GO:0006887), protein transport (GO:0015031), regulation of exocytosis (GO:0017157), antigen processing and presentation (GO:0019882)

GO Molecular Function (9): GTPase activity (GO:0003924), G protein activity (GO:0003925), GTP binding (GO:0005525), GTP-dependent protein binding (GO:0030742), myosin V binding (GO:0031489), metal ion binding (GO:0046872), nucleotide binding (GO:0000166), protein binding (GO:0005515), hydrolase activity (GO:0016787)

GO Cellular Component (6): endosome (GO:0005768), plasma membrane (GO:0005886), synaptic vesicle (GO:0008021), vesicle (GO:0031982), perinuclear region of cytoplasm (GO:0048471), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Post-translational protein modification	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
vesicle-mediated transport	1
secretion by cell	1
vesicle fusion to plasma membrane	1
transport	1
intracellular protein localization	1
establishment of protein localization	1
exocytosis	1
regulation of vesicle-mediated transport	1
regulation of secretion by cell	1
immune system process	1
ribonucleoside triphosphate phosphatase activity	1
GTPase activity	1
molecular function regulator activity	1
guanyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
protein binding	1
myosin binding	1
cation binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
catalytic activity	1
endomembrane system	1
cytoplasmic vesicle	1
membrane	1
cell periphery	1
exocytic vesicle	1
presynapse	1
membrane-bounded organelle	1
cytoplasm	1

Protein interactions and networks

STRING

1488 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RAB3C	RIMS2	Q9UQ26	873
RAB3C	RIMBP2	O15034	827
RAB3C	TSPOAP1	O95153	809
RAB3C	RPH3A	Q9Y2J0	765
RAB3C	RIMS1	Q86UR5	659
RAB3C	SNAP25	P13795	477
RAB3C	SV2C	Q496J9	467
RAB3C	VAMP2	P19065	462
RAB3C	SYT1	P21579	454
RAB3C	STX18	Q9P2W9	440
RAB3C	MADD	Q8WXG6	428
RAB3C	STX1B	P61266	418
RAB3C	SCAMP5	Q8TAC9	416
RAB3C	SYNGR1	O43759	405
RAB3C	UNC13A	Q9UPW8	405

IntAct

47 interactions, top by confidence:

A	B	Type	Score
RABIF	RAB3C	psi-mi:“MI:0915”(physical association)	0.560
RAB3C	VRTN	psi-mi:“MI:0915”(physical association)	0.560
CALR	RAB3C	psi-mi:“MI:0915”(physical association)	0.560
DLST	RAB3C	psi-mi:“MI:0915”(physical association)	0.560
TP53BP2	RAB3C	psi-mi:“MI:0915”(physical association)	0.560
CDK5R1	RAB3C	psi-mi:“MI:0915”(physical association)	0.560
RAB3C	ITM2B	psi-mi:“MI:0915”(physical association)	0.560
RAB3C	NEK7	psi-mi:“MI:0915”(physical association)	0.560
RAB3A	CHM	psi-mi:“MI:0914”(association)	0.530
RAB3C	SMARCC2	psi-mi:“MI:0915”(physical association)	0.400
APBB1	SSPOP	psi-mi:“MI:0914”(association)	0.350
LRRK2		psi-mi:“MI:0914”(association)	0.350
CD177	MYO1G	psi-mi:“MI:0914”(association)	0.350
IQCB1	PCP4L1	psi-mi:“MI:0914”(association)	0.350
MAPT	SHTN1	psi-mi:“MI:0914”(association)	0.350

BioGRID (17): RAB3C (Affinity Capture-MS), RAB3C (Two-hybrid), RABIF (Two-hybrid), RAB3C (Proximity Label-MS), RAB3C (Affinity Capture-MS), RAB3C (Affinity Capture-MS), RAB3C (Proximity Label-MS), RAB3C (Affinity Capture-MS), RAB3C (Reconstituted Complex), RAB3C (Two-hybrid), RAB3C (Co-fractionation), RAB3C (Reconstituted Complex), RAB3C (Cross-Linking-MS (XL-MS)), RAB3C (Affinity Capture-MS), RAB3C (Affinity Capture-MS)

ESM2 similar proteins: A4D1S5, O13876, O80501, P05714, P10948, P10949, P20337, P20338, P34213, P35289, P35293, P35294, P51152, P51159, P56371, P62823, P90726, Q05976, Q0IIG8, Q15771, Q17QB7, Q18969, Q1HE58, Q28IZ3, Q2TBH7, Q32NQ0, Q3ZC27, Q53B90, Q54E92, Q55FK2, Q5EB77, Q5KTJ7, Q5M7U5, Q5R5H5, Q63941, Q68EK7, Q6DHC1, Q6PHI9, Q8CG50, Q923S9

Diamond homologs: A4FV54, C4YL11, F1PTE3, O24466, O42819, O76173, O95716, P01123, P07560, P0CY30, P0CY31, P10536, P10949, P11023, P11620, P16976, P17609, P20336, P20790, P20791, P22125, P22127, P22128, P24409, P25228, P28186, P28188, P31584, P33723, P34139, P34140, P35276, P35280, P35281, P35286, P35289, P36861, P40392, P41924, P51153

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
RAB3C	up-regulates	Dense-core_vesicle_exocytosis
RIMS2	“up-regulates activity”	RAB3C	relocalization
RIMS3	“up-regulates activity”	RAB3C	relocalization
RIMS1	“up-regulates activity”	RAB3C	relocalization

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 36 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
axonogenesis	5	25.9×	6e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	26
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2287 predictions. Top by Δscore:

Variant	Effect	Δscore
5:58614046:TGGG:T	donor_gain	1.0000
5:58617639:ACAG:A	acceptor_loss	1.0000
5:58617640:CAG:C	acceptor_loss	1.0000
5:58617641:A:AC	acceptor_loss	1.0000
5:58617641:AGAT:A	acceptor_gain	1.0000
5:58617642:G:A	acceptor_loss	1.0000
5:58617642:GAT:G	acceptor_gain	1.0000
5:58617642:GATG:G	acceptor_gain	1.0000
5:58725998:TTA:T	acceptor_loss	1.0000
5:58725999:TAG:T	acceptor_loss	1.0000
5:58726000:A:AG	acceptor_gain	1.0000
5:58726001:G:A	acceptor_loss	1.0000
5:58726001:G:GG	acceptor_gain	1.0000
5:58726116:GATTG:G	donor_gain	1.0000
5:58726121:G:GG	donor_gain	1.0000
5:58726121:GTAA:G	donor_loss	1.0000
5:58726122:T:A	donor_loss	1.0000
5:58825032:TTTTA:T	acceptor_loss	1.0000
5:58825033:TTTAG:T	acceptor_loss	1.0000
5:58825034:TTA:T	acceptor_loss	1.0000
5:58825035:TAG:T	acceptor_loss	1.0000
5:58825036:A:AC	acceptor_loss	1.0000
5:58825036:A:AG	acceptor_gain	1.0000
5:58825037:G:GG	acceptor_gain	1.0000
5:58825037:GGT:G	acceptor_gain	1.0000
5:58825037:GGTC:G	acceptor_gain	1.0000
5:58825037:GGTCA:G	acceptor_gain	1.0000
5:58825158:GCTTG:G	donor_gain	1.0000
5:58825159:C:G	donor_gain	1.0000
5:58825161:TGGT:T	donor_loss	1.0000

AlphaMissense

1527 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:58617712:A:G	K32E	1.000
5:58617719:T:C	L34P	1.000
5:58617727:G:C	G37R	1.000
5:58617727:G:T	G37C	1.000
5:58617728:G:A	G37D	1.000
5:58617728:G:T	G37V	1.000
5:58617742:G:A	G42R	1.000
5:58617742:G:C	G42R	1.000
5:58617742:G:T	G42W	1.000
5:58617743:G:A	G42E	1.000
5:58617743:G:T	G42V	1.000
5:58617745:A:C	K43Q	1.000
5:58617746:A:T	K43I	1.000
5:58617749:C:T	T44I	1.000
5:58617764:G:C	R49P	1.000
5:58617781:T:C	F55L	1.000
5:58617783:T:A	F55L	1.000
5:58617783:T:G	F55L	1.000
5:58617803:C:T	T62I	1.000
5:58617806:T:A	V63D	1.000
5:58617808:G:A	G64R	1.000
5:58617808:G:C	G64R	1.000
5:58617808:G:T	G64W	1.000
5:58617809:G:A	G64E	1.000
5:58617817:T:C	F67L	1.000
5:58617818:T:C	F67S	1.000
5:58617819:C:A	F67L	1.000
5:58617819:C:G	F67L	1.000
5:58617860:T:C	L81P	1.000
5:58617868:T:A	W84R	1.000

dbSNP variants (sampled 300 via entrez): RS1000014210 (5:58811970 C>G,T), RS1000015399 (5:58725853 T>A), RS1000031180 (5:58768403 T>C), RS1000033056 (5:58627520 C>A), RS1000044807 (5:58775665 G>T), RS1000046133 (5:58687291 G>A,T), RS1000049183 (5:58771827 T>C), RS1000079552 (5:58819138 G>A), RS1000082618 (5:58686203 T>C), RS1000085649 (5:58620439 G>A), RS1000090121 (5:58592220 G>C), RS1000096925 (5:58681021 T>A), RS1000117973 (5:58701588 G>C), RS1000122309 (5:58753756 C>T), RS1000127231 (5:58636803 G>T)

Disease associations

OMIM: gene MIM:612829 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST001937_55	Breast cancer	3.000000e-08
GCST002761_11	Hippocampal volume	5.000000e-06
GCST004988_208	Breast cancer	1.000000e-08
GCST007560_5	Sleep duration (long sleep)	1.000000e-08
GCST008768_2	Perceived intensity of sweet substances	7.000000e-06
GCST009391_756	Metabolite levels	7.000000e-06
GCST010396_119	Gut microbiota (bacterial taxa, hurdle binary method)	7.000000e-07

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0005035	hippocampal volume
EFO:0010390	sphingomyelin 14:0 measurement
EFO:0007874	gut microbiome measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression, affects cotreatment	6
Benzo(a)pyrene	affects methylation, decreases expression, increases methylation	4
Aflatoxin B1	affects expression, decreases expression, decreases methylation	4
trichostatin A	affects cotreatment, increases expression	3
bisphenol A	decreases expression, increases methylation	2
belinostat	affects cotreatment, increases expression	2
Vorinostat	affects cotreatment, increases expression	2
Panobinostat	affects cotreatment, increases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
p-Chloromercuribenzoic Acid	affects cotreatment, decreases expression	2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	increases expression	1
methylmercuric chloride	decreases expression	1
methyleugenol	decreases expression	1
decabromobiphenyl ether	affects expression	1
terbufos	increases methylation	1
arsenite	increases methylation	1
benzo(e)pyrene	increases methylation	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression, decreases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
dorsomorphin	affects cotreatment, increases expression, decreases expression	1
Acetaminophen	increases expression	1
Arsenic	affects methylation	1
Cadmium	decreases expression	1
Citrulline	increases expression, affects reaction, decreases expression, increases phosphorylation	1
Dimethyl Sulfoxide	affects expression	1
Fonofos	increases methylation	1
Estradiol	decreases expression	1
Lead	affects expression	1
Lipopolysaccharides	affects response to substance, increases expression, affects cotreatment	1

Clinical trials (associated diseases)

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