RAB30

Summary

RAB30 (RAB30, member RAS oncogene family, HGNC:9770) is a protein-coding gene on chromosome 11q14.1, encoding Ras-related protein Rab-30 (Q15771). The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes.

Predicted to enable GTP binding activity and GTPase activity. Involved in Golgi organization. Located in Golgi cisterna; cis-Golgi network; and trans-Golgi network.

Source: NCBI Gene 27314 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 22 total
• MANE Select transcript: NM_001286060

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9770
Approved symbol	RAB30
Name	RAB30, member RAS oncogene family
Location	11q14.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000137502
Ensembl biotype	protein_coding
OMIM	605693
Entrez	27314

Gene structure

Transcript identifiers

Ensembl transcripts: 31 — 31 protein_coding

ENST00000260056, ENST00000524635, ENST00000525117, ENST00000526205, ENST00000527633, ENST00000528379, ENST00000530224, ENST00000531021, ENST00000532548, ENST00000533014, ENST00000533276, ENST00000533486, ENST00000534103, ENST00000534141, ENST00000534301, ENST00000612684, ENST00000876634, ENST00000876635, ENST00000876636, ENST00000876637, ENST00000876638, ENST00000876639, ENST00000876640, ENST00000876641, ENST00000876642, ENST00000921437, ENST00000947972, ENST00000947973, ENST00000947974, ENST00000947975, ENST00000947976

RefSeq mRNA: 4 — MANE Select: NM_001286060 NM_001286059, NM_001286060, NM_001286061, NM_014488

CCDS: CCDS8264

Canonical transcript exons

ENST00000527633 — 5 exons

Exon	Start	End
ENSE00000927720	82987587	82987770
ENSE00002159841	82973133	82982415
ENSE00002173955	83071691	83071897
ENSE00003675310	82997224	82997324
ENSE00003784596	82994039	82994122

Expression profiles

Bgee: expression breadth ubiquitous, 259 present calls, max score 95.17.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.0076 / max 503.4468, expressed in 1686 samples.

FANTOM5 promoters (10 alternative TSS)

Promoter ID	TPM avg	Samples expressed
121589	16.3549	1660
121588	1.9950	925
121590	0.4046	196
121584	0.4029	128
121583	0.3537	124
121585	0.1576	58
121581	0.1303	52
121579	0.1052	49
121580	0.0630	38
121582	0.0403	19

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
medial globus pallidus	UBERON:0002477	95.17	gold quality
globus pallidus	UBERON:0001875	94.74	gold quality
corpus callosum	UBERON:0002336	93.86	gold quality
secondary oocyte	CL:0000655	93.02	gold quality
lateral globus pallidus	UBERON:0002476	92.84	gold quality
substantia nigra pars reticulata	UBERON:0001966	92.44	gold quality
substantia nigra pars compacta	UBERON:0001965	91.69	gold quality
Brodmann (1909) area 23	UBERON:0013554	91.22	gold quality
inferior vagus X ganglion	UBERON:0005363	91.16	gold quality
endothelial cell	CL:0000115	91.13	gold quality
superior vestibular nucleus	UBERON:0007227	90.86	gold quality
entorhinal cortex	UBERON:0002728	90.58	gold quality
subthalamic nucleus	UBERON:0001906	90.52	gold quality
calcaneal tendon	UBERON:0003701	89.74	gold quality
postcentral gyrus	UBERON:0002581	89.63	gold quality
parietal lobe	UBERON:0001872	89.16	gold quality
ventral tegmental area	UBERON:0002691	88.87	gold quality
middle temporal gyrus	UBERON:0002771	87.66	gold quality
colonic epithelium	UBERON:0000397	87.45	gold quality
tendon	UBERON:0000043	87.21	gold quality
dorsal plus ventral thalamus	UBERON:0001897	87.17	gold quality
lateral nuclear group of thalamus	UBERON:0002736	87.09	gold quality
superficial temporal artery	UBERON:0001614	87.03	gold quality
tonsil	UBERON:0002372	86.99	gold quality
cortical plate	UBERON:0005343	86.74	gold quality
parietal pleura	UBERON:0002400	86.60	gold quality
superior frontal gyrus	UBERON:0002661	86.38	gold quality
buccal mucosa cell	CL:0002336	86.31	gold quality
adrenal tissue	UBERON:0018303	86.29	gold quality
primary visual cortex	UBERON:0002436	85.82	gold quality

Single-cell (SCXA)

Detected in 7 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-GEOD-100618	yes	204.44
E-CURD-122	yes	41.52
E-ANND-3	yes	23.48
E-CURD-46	yes	15.50
E-MTAB-10553	yes	9.43
E-MTAB-7303	no	483.37
E-GEOD-99795	no	61.86

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

357 targeting RAB30, 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-126-5P	100.00	72.71	3180
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-4795-3P	100.00	74.62	4024
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-6758-5P	100.00	66.21	1470
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-3689D	100.00	66.14	1181
HSA-MIR-6851-5P	100.00	65.63	1294
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-3163	100.00	77.23	8605
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-188-3P	100.00	68.76	1240
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-196A-1-3P	99.99	72.15	2772

Literature-anchored findings (GeneRIF, showing 4)

• Rab30 is primarily expressed in the Golgi apparatus and is required for the structural integrity of this organelle. (PMID:22188167)
• Data indicate taht the parasitophorous vacuole (PV), marked with Rab14, Rab30, or Rab43, colocalize with host-derived sphingolipids in the vacuolar space. (PMID:23615442)
• The results demonstrate a novel autophagosomal formation mechanism involving coordinative functions of RAB30 and PI4KB distinct from those utilized in canonical autophagy. (PMID:30290718)
• A role for Rab30 in retrograde trafficking and maintenance of endosome-TGN organization. (PMID:33359467)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	rab30	ENSDARG00000037884
mus_musculus	Rab30	ENSMUSG00000030643
rattus_norvegicus	Rab30	ENSRNOG00000077006
drosophila_melanogaster	Rab30	FBGN0031882
caenorhabditis_elegans		WBGENE00004282

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), RAB1A (ENSG00000138069), RAB20 (ENSG00000139832), RAB15 (ENSG00000139998), RAB40B (ENSG00000141542), RAB13 (ENSG00000143545), RABL2A (ENSG00000144134), RAB5A (ENSG00000144566), RAB19 (ENSG00000146955), RAB41 (ENSG00000147127)

Protein

Protein identifiers

Ras-related protein Rab-30 — Q15771 (reviewed: Q15771)

All UniProt accessions (13): A8K5R1, E9PI18, E9PJQ5, E9PLM3, E9PMJ1, E9PNB9, E9PPW9, E9PQ07, E9PRF7, E9PRX0, E9PS06, Q15771, H0YDK7

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. RAB30 is required for maintaining the structural integrity of the Golgi apparatus, possibly by mediating interactions with cytoplasmic scaffolding proteins. Facilitates lipid homeostasis during fasting by regulating hepatic protein and lipid trafficking in a PPAR-alpha-dependent manner. Promotes autophagosome biogenesis during bacterial infection such as group A Streptococcus infection.

Subunit / interactions. Interacts (GTP-bound) with USP6NL; USP6NL acts as a GAP.

Subcellular location. Membrane. Golgi apparatus. trans-Golgi network membrane. cis-Golgi network membrane. Golgi apparatus membrane. Cytoplasm. Cytoplasmic vesicle. Autophagosome membrane. Autolysosome membrane.

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) including USP6NL, which increase the GTP hydrolysis activity. Inhibited by GDP dissociation inhibitors (GDIs).

Domain organisation. Switch I, switch II 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 drive 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?
Q15771-1	1	yes
Q15771-2	2

RefSeq proteins (4): NP_001272988, NP_001272989, NP_001272990, NP_055303 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001806	Small_GTPase	Family
IPR005225	Small_GTP-bd	Domain
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR041820	Rab30	Family
IPR050227	Rab	Family

Pfam: PF00071

Catalyzed reactions (Rhea), 1 shown:

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

UniProt features (43 total): binding site 15, helix 9, strand 6, region of interest 2, lipid moiety-binding region 2, splice variant 2, mutagenesis site 2, chain 1, propeptide 1, modified residue 1, sequence conflict 1, turn 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2EW1	X-RAY DIFFRACTION	2

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q15771-F1	87.58	0.74

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 (15): 41; 41; 64; 67; 122; 123; 125; 153; 154; 20; 21; 22 …

Post-translational modifications (3): 200, 199, 200

Mutagenesis-validated functional residues (2):

Position	Phenotype
23	constitutively inactive (gdp-bound) mutant. decreased colocalization with group a streptococcus-containing autophagosome
68	constitutively active (gtp-bound) mutant. increased colocalization with group a streptococcus-containing autophagosome-l

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-6811438	Intra-Golgi traffic
R-HSA-8873719	RAB geranylgeranylation

MSigDB gene sets: 356 (showing top): TGGTGCT_MIR29A_MIR29B_MIR29C, RRAGTTGT_UNKNOWN, GOCC_VACUOLAR_MEMBRANE, GOZGIT_ESR1_TARGETS_DN, GCAAGGA_MIR502, AP4_Q6, GOBP_VESICLE_MEDIATED_TRANSPORT, TAL1ALPHAE47_01, REACTOME_MEMBRANE_TRAFFICKING, GGGTGGRR_PAX4_03, AAAYRNCTG_UNKNOWN, CAGCTG_AP4_Q5, GGCNKCCATNK_UNKNOWN, GOBP_LIPID_HOMEOSTASIS, LEE_NAIVE_T_LYMPHOCYTE

GO Biological Process (4): Golgi organization (GO:0007030), vesicle-mediated transport (GO:0016192), Rab protein signal transduction (GO:0032482), lipid homeostasis (GO:0055088)

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 (13): Golgi membrane (GO:0000139), autophagosome membrane (GO:0000421), Golgi stack (GO:0005795), cis-Golgi network (GO:0005801), trans-Golgi network (GO:0005802), cytoplasmic vesicle (GO:0031410), Golgi cisterna (GO:0031985), cis-Golgi network membrane (GO:0033106), autolysosome membrane (GO:0120281), cytoplasm (GO:0005737), lysosome (GO:0005764), Golgi apparatus (GO:0005794), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Intra-Golgi and retrograde Golgi-to-ER traffic	1
Post-translational protein modification	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
Golgi apparatus subcompartment	3
Golgi apparatus	2
bounding membrane of organelle	2
intracellular membrane-bounded organelle	2
cytoplasm	2
cellular anatomical structure	2
organelle organization	1
endomembrane system organization	1
transport	1
cellular process	1
small GTPase-mediated signal transduction	1
chemical homeostasis	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
vacuolar membrane	1
autophagosome	1
intracellular vesicle	1
Golgi stack	1
cis-Golgi network	1
lysosomal membrane	1
autolysosome	1
intracellular anatomical structure	1
lytic vacuole	1
endomembrane system	1

Protein interactions and networks

STRING

880 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RAB30	GCC2	Q8IWJ2	723
RAB30	ARF3	P16587	662
RAB30	COG4	Q9H9E3	633
RAB30	TRIP11	Q15643	589
RAB30	MSANTD2	Q6P1R3	523
RAB30	PHLDB3	Q6NSJ2	517
RAB30	RAB18	Q9NP72	507
RAB30	STX5	Q13190	502
RAB30	RAB29	O14966	489
RAB30	SCFD1	Q8WVM8	481
RAB30	C9orf152	Q5JTZ5	480
RAB30	ANKRD42	Q8N9B4	480
RAB30	CCDC90B	Q9GZT6	476
RAB30	MFSD6L	Q8IWD5	471
RAB30	RAB19	A4D1S5	469

IntAct

19 interactions, top by confidence:

A	B	Type	Score
RAB30	AGTRAP	psi-mi:“MI:0915”(physical association)	0.560
	RAB30	psi-mi:“MI:0915”(physical association)	0.560
RAB30	UBB	psi-mi:“MI:0914”(association)	0.530
RAB30	CHM	psi-mi:“MI:0914”(association)	0.530
GYP1	RAB30	psi-mi:“MI:0407”(direct interaction)	0.440
	RAB30	psi-mi:“MI:0883”(gtpase reaction)	0.440
EIF5A2	RAB30	psi-mi:“MI:0915”(physical association)	0.370
CD177	MYO1G	psi-mi:“MI:0914”(association)	0.350
POLD3	ESYT2	psi-mi:“MI:0914”(association)	0.350
AFG2B	MMP24OS	psi-mi:“MI:0914”(association)	0.350
SLC25A37	RAB30	psi-mi:“MI:0914”(association)	0.350
RAB30	AGTRAP	psi-mi:“MI:0915”(physical association)	0.000
RAB30		psi-mi:“MI:0915”(physical association)	0.000

BioGRID (59): RAB30 (Affinity Capture-MS), HTT (Affinity Capture-MS), CHML (Affinity Capture-MS), F8A1 (Affinity Capture-MS), CHM (Affinity Capture-MS), USP4 (Affinity Capture-MS), D2HGDH (Affinity Capture-MS), RANGRF (Affinity Capture-MS), UHRF1BP1 (Affinity Capture-MS), PHLDB3 (Affinity Capture-MS), TRAPPC10 (Affinity Capture-MS), TRAPPC9 (Affinity Capture-MS), VPS13C (Affinity Capture-MS), VASP (Affinity Capture-MS), CUX1 (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: A2WSI7, A2Y7R5, A2YEQ6, H9BW96, O17915, O76742, O97572, P09527, P18067, P22127, P24408, P24409, P28748, P32835, P32836, P33519, P34139, P35288, P36411, P36864, P38542, P38543, P38544, P38545, P38546, P38547, P38548, P41914, P41915, P41916, P41917, P41918, P41919, P42558, P51149, P51150, P51151, P52301, P54765, P54766

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	15
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1675 predictions. Top by Δscore:

Variant	Effect	Δscore
11:82987584:TAC:T	donor_loss	1.0000
11:82987585:A:AC	donor_gain	1.0000
11:82987585:AC:A	donor_gain	1.0000
11:82987585:ACC:A	donor_gain	1.0000
11:82987586:C:CT	donor_gain	1.0000
11:82987586:CC:C	donor_gain	1.0000
11:82987586:CCC:C	donor_gain	1.0000
11:82987586:CCCA:C	donor_gain	1.0000
11:82987766:TGTAG:T	acceptor_gain	1.0000
11:82987771:C:CC	acceptor_gain	1.0000
11:82997218:CCTTA:C	donor_loss	1.0000
11:82997219:CTTA:C	donor_loss	1.0000
11:82997221:TA:T	donor_loss	1.0000
11:82997320:CACAG:C	acceptor_gain	1.0000
11:82997321:ACAG:A	acceptor_gain	1.0000
11:82997322:CAG:C	acceptor_gain	1.0000
11:82997322:CAGC:C	acceptor_gain	1.0000
11:82997322:CAGCT:C	acceptor_loss	1.0000
11:82997323:AG:A	acceptor_gain	1.0000
11:82997323:AGCT:A	acceptor_loss	1.0000
11:82997324:GCT:G	acceptor_loss	1.0000
11:82997325:C:CC	acceptor_gain	1.0000
11:82997325:C:CG	acceptor_loss	1.0000
11:82997326:T:A	acceptor_loss	1.0000
11:82982423:A:T	acceptor_gain	0.9900
11:82984470:T:TA	donor_gain	0.9900
11:82984470:TCC:T	donor_gain	0.9900
11:82984471:C:A	donor_gain	0.9900
11:82987584:TACCC:T	donor_gain	0.9900
11:82987585:ACCCA:A	donor_gain	0.9900

AlphaMissense

1329 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:82982408:C:A	K123N	1.000
11:82982408:C:G	K123N	1.000
11:82987735:A:C	F71L	1.000
11:82987735:A:T	F71L	1.000
11:82987737:A:G	F71L	1.000
11:82987737:A:T	F71I	1.000
11:82987748:C:T	G67D	1.000
11:82987756:G:C	D64E	1.000
11:82987756:G:T	D64E	1.000
11:82987757:T:A	D64V	1.000
11:82987757:T:C	D64G	1.000
11:82987757:T:G	D64A	1.000
11:82987758:C:A	D64Y	1.000
11:82987758:C:G	D64H	1.000
11:82987761:A:G	W63R	1.000
11:82987761:A:T	W63R	1.000
11:82987769:A:G	L60P	1.000
11:82994078:A:C	F46L	1.000
11:82994078:A:T	F46L	1.000
11:82994080:A:G	F46L	1.000
11:82994088:C:T	G43E	1.000
11:82994089:C:G	G43R	1.000
11:82994089:C:T	G43R	1.000
11:82997255:C:T	G21E	1.000
11:82997270:C:A	G16V	1.000
11:82982268:A:G	L170P	0.999
11:82982288:G:C	F163L	0.999
11:82982288:G:T	F163L	0.999
11:82982289:A:G	F163S	0.999
11:82982290:A:G	F163L	0.999

dbSNP variants (sampled 300 via entrez): RS1000009144 (11:83057369 A>T), RS1000105947 (11:83046733 G>T), RS1000142287 (11:83059618 C>T), RS1000160734 (11:83030254 T>A,G), RS1000186284 (11:83009642 A>G), RS1000269589 (11:83050149 G>A), RS1000285992 (11:82999258 T>G), RS1000338247 (11:83000535 T>C), RS1000381306 (11:83043048 C>A,T), RS1000388249 (11:83072181 G>A,C), RS1000445667 (11:83006457 C>T), RS1000471254 (11:83056851 G>C), RS1000474114 (11:82979953 T>G), RS1000478065 (11:83020382 A>C), RS1000523131 (11:83063839 A>G)

Disease associations

OMIM: gene MIM:605693 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST001514_1	Economic and political preferences (feminism/equality)	4.000000e-07
GCST001814_18	Age-related macular degeneration	8.000000e-06
GCST90002389_367	Lymphocyte percentage of white cells	3.000000e-09

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004827	economic and social preference
EFO:0007993	lymphocyte percentage of leukocytes

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Estradiol	decreases reaction, increases expression, affects expression, affects cotreatment, decreases expression	4
Valproic Acid	decreases methylation, affects cotreatment, increases expression, decreases expression	4
trichostatin A	decreases expression, increases expression	2
sodium arsenite	decreases expression, affects cotreatment, increases abundance	2
Tetrachlorodibenzodioxin	affects expression, increases expression	2
aminomethylphosphonic acid (AMPA)	increases expression	1
methylmercuric chloride	decreases expression, increases expression	1
triphenyl phosphate	affects expression	1
arsenite	decreases reaction, affects binding	1
afimoxifene	increases expression, decreases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
potassium chromate(VI)	decreases expression	1
hydroquinone	decreases expression	1
perfluorooctane sulfonic acid	decreases expression	1
abrine	increases expression	1
jinfukang	affects cotreatment, decreases expression	1
Sunitinib	decreases expression	1
Fulvestrant	decreases reaction, increases expression	1
Leflunomide	increases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Air Pollutants, Occupational	increases expression	1
Arsenic	affects cotreatment, decreases expression, increases abundance	1
Benzo(a)pyrene	affects methylation	1
Cisplatin	affects cotreatment, decreases expression	1
Dinitrochlorobenzene	affects binding	1
Doxorubicin	decreases expression	1
Ethyl Methanesulfonate	increases expression	1
Formaldehyde	increases expression	1

Clinical trials (associated diseases)

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