MVB12B

Summary

MVB12B (multivesicular body subunit 12B, HGNC:23368) is a protein-coding gene on chromosome 9q33.3, encoding Multivesicular body subunit 12B (Q9H7P6). Component of the ESCRT-I complex, a regulator of vesicular trafficking process.

The protein encoded by this gene is a component of the ESCRT-I complex, a heterotetramer, which mediates the sorting of ubiquitinated cargo protein from the plasma membrane to the endosomal vesicle. ESCRT-I complex plays an essential role in HIV budding and endosomal protein sorting. Depletion and overexpression of this and related protein (MVB12A) inhibit HIV-1 infectivity and induce unusual viral assembly defects, indicating a role for MVB12 subunits in regulating ESCRT-mediated virus budding. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 89853 — RefSeq curated summary.

At a glance

• GWAS associations: 13
• Clinical variants (ClinVar): 61 total
• MANE Select transcript: NM_033446

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23368
Approved symbol	MVB12B
Name	multivesicular body subunit 12B
Location	9q33.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ00001
Ensembl gene	ENSG00000196814
Ensembl biotype	protein_coding
Entrez	89853

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 7 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000361171, ENST00000402437, ENST00000470567, ENST00000485886, ENST00000489570, ENST00000489637, ENST00000885961, ENST00000885962, ENST00000885963, ENST00000944841

RefSeq mRNA: 2 — MANE Select: NM_033446 NM_001011703, NM_033446

CCDS: CCDS35142, CCDS48022

Canonical transcript exons

ENST00000361171 — 10 exons

Exon	Start	End
ENSE00001152123	126326829	126327010
ENSE00001358628	126481369	126481424
ENSE00003480372	126392066	126392195
ENSE00003486129	126381064	126381171
ENSE00003494375	126503177	126507040
ENSE00003546212	126421854	126421948
ENSE00003576645	126340508	126340630
ENSE00003578355	126386562	126386658
ENSE00003616609	126483973	126484032
ENSE00003784344	126395575	126395697

Expression profiles

Bgee: expression breadth ubiquitous, 218 present calls, max score 97.15.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.9558 / max 460.2410, expressed in 1585 samples.

FANTOM5 promoters (13 alternative TSS)

Promoter ID	TPM avg	Samples expressed
98543	6.3492	1419
98538	1.0320	576
98537	0.8074	418
98539	0.3224	114
98542	0.1110	51
98541	0.1026	38
98540	0.0634	29
98548	0.0604	15
98546	0.0432	29
98547	0.0274	18

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
C1 segment of cervical spinal cord	UBERON:0006469	97.15	gold quality
spinal cord	UBERON:0002240	96.77	gold quality
inferior vagus X ganglion	UBERON:0005363	95.82	gold quality
corpus callosum	UBERON:0002336	95.45	gold quality
endothelial cell	CL:0000115	95.00	gold quality
inferior olivary complex	UBERON:0002127	94.70	gold quality
cortical plate	UBERON:0005343	93.65	gold quality
subthalamic nucleus	UBERON:0001906	93.05	gold quality
cranial nerve II	UBERON:0000941	92.73	gold quality
medulla oblongata	UBERON:0001896	92.64	gold quality
medial globus pallidus	UBERON:0002477	92.49	gold quality
substantia nigra	UBERON:0002038	91.92	gold quality
midbrain	UBERON:0001891	91.78	gold quality
globus pallidus	UBERON:0001875	91.75	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	90.99	gold quality
substantia nigra pars reticulata	UBERON:0001966	90.00	gold quality
ganglionic eminence	UBERON:0004023	89.98	gold quality
superior vestibular nucleus	UBERON:0007227	89.74	gold quality
Ammon’s horn	UBERON:0001954	89.55	gold quality
ventral tegmental area	UBERON:0002691	89.34	gold quality
putamen	UBERON:0001874	88.76	gold quality
hypothalamus	UBERON:0001898	88.70	gold quality
dorsal plus ventral thalamus	UBERON:0001897	88.43	gold quality
amygdala	UBERON:0001876	88.29	gold quality
sural nerve	UBERON:0015488	88.24	gold quality
caudate nucleus	UBERON:0001873	87.96	gold quality
nucleus accumbens	UBERON:0001882	87.72	gold quality
lateral globus pallidus	UBERON:0002476	86.95	gold quality
telencephalon	UBERON:0001893	86.67	gold quality
right frontal lobe	UBERON:0002810	86.64	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-HCAD-25	yes	49.83
E-CURD-119	yes	24.68
E-ANND-3	yes	5.07

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

142 targeting MVB12B, 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-8485	100.00	77.57	4731
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-4645-5P	99.98	65.81	1284
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-185-3P	99.95	67.01	1743
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-218-5P	99.93	72.22	2103
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-22-3P	99.93	68.13	917
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-3681-3P	99.88	70.46	2254
HSA-MIR-605-3P	99.88	69.22	1833
HSA-MIR-4492	99.87	68.25	3611

Literature-anchored findings (GeneRIF, showing 3)

• These results suggest that the expression of MVB12B may be normally suppressed through the ubiquitin-proteasome pathway that simultaneously regulates the fate of MVB12A and the functions of ESCRT-I. (PMID:20654576)
• The 1.3-A atomic resolution crystal structure of the MVB12B MABP domain reveals a beta-prism fold, a hydrophobic membrane-anchoring loop, and an electropositive phosphoinositide-binding patch. (PMID:22232651)
• Study suggests a novel association between SNPs in FAM125B andintra-ocular pressure in the TwinsUK cohort. (PMID:24518671)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	mvb12bb	ENSDARG00000079478
danio_rerio	mvb12ba	ENSDARG00000091619
mus_musculus	Mvb12b	ENSMUSG00000038740
rattus_norvegicus	Mvb12b	ENSRNOG00000017172

Protein

Protein identifiers

Multivesicular body subunit 12B — Q9H7P6 (reviewed: Q9H7P6)

Alternative names: ESCRT-I complex subunit MVB12B, Protein FAM125B

All UniProt accessions (2): Q9H7P6, F8W922

UniProt curated annotations — full annotation on UniProt →

Function. Component of the ESCRT-I complex, a regulator of vesicular trafficking process. Required for the sorting of endocytic ubiquitinated cargos into multivesicular bodies.

Subunit / interactions. Component of the ESCRT-I complex (endosomal sorting complex required for transport I) which consists of TSG101, VPS28, a VPS37 protein (VPS37A to -D) and MVB12A or MVB12B in a 1:1:1:1 stoichiometry. Interacts with TSG101; the association appears to be mediated by the TSG101-VPS37 binary subcomplex. Interacts with VPS28. Interacts with VPS37B; the association appears to be mediated by the TSG101-VPS37 binary subcomplex. Interacts with VPS37C; the association appears to be mediated by the TSG101-VPS37 binary subcomplex.

Subcellular location. Endosome. Late endosome membrane.

Similarity. Belongs to the MVB12 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9H7P6-1	1	yes
Q9H7P6-2	2

RefSeq proteins (2): NP_001011703, NP_258257* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR018798
IPR023340	UMA	Domain
IPR023341	MABP	Domain
IPR040297	MVB12B	Family

Pfam: PF10240

UniProt features (26 total): modified residue 7, strand 7, region of interest 3, domain 2, helix 2, compositionally biased region 2, chain 1, splice variant 1, turn 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
3TOW	X-RAY DIFFRACTION	1.34

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H7P6-F1	76.53	0.42

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 (7): 122, 204, 205, 224, 309, 46, 101

Function

Pathways and Gene Ontology

Reactome pathways

17 pathways

ID	Pathway
R-HSA-162588	Budding and maturation of HIV virion
R-HSA-174490	Membrane binding and targetting of GAG proteins
R-HSA-917729	Endosomal Sorting Complex Required For Transport (ESCRT)
R-HSA-9610379	HCMV Late Events
R-HSA-9615710	Late endosomal microautophagy
R-HSA-162587	HIV Life Cycle
R-HSA-162599	Late Phase of HIV Life Cycle
R-HSA-162906	HIV Infection
R-HSA-1643685	Disease
R-HSA-174495	Synthesis And Processing Of GAG, GAGPOL Polyproteins
R-HSA-175474	Assembly Of The HIV Virion
R-HSA-199991	Membrane Trafficking
R-HSA-5653656	Vesicle-mediated transport
R-HSA-5663205	Infectious disease
R-HSA-9609646	HCMV Infection
R-HSA-9612973	Autophagy
R-HSA-9824446	Viral Infection Pathways

MSigDB gene sets: 187 (showing top): REACTOME_ENDOSOMAL_SORTING_COMPLEX_REQUIRED_FOR_TRANSPORT_ESCRT, GOBP_REGULATION_OF_ERBB_SIGNALING_PATHWAY, GOBP_ENDOSOME_ORGANIZATION, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_VESICLE_ORGANIZATION, ATACCTC_MIR202, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_VACUOLAR_TRANSPORT, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, CHANDRAN_METASTASIS_DN, REACTOME_HIV_INFECTION, GOBP_ERBB_SIGNALING_PATHWAY, GOBP_PROTEIN_LOCALIZATION_TO_VACUOLE

GO Biological Process (8): protein transport (GO:0015031), virus maturation (GO:0019075), multivesicular body assembly (GO:0036258), regulation of epidermal growth factor receptor signaling pathway (GO:0042058), ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162), protein transport to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043328), viral budding (GO:0046755), membrane fission (GO:0090148)

GO Molecular Function (2): lipid binding (GO:0008289), protein binding (GO:0005515)

GO Cellular Component (13): ESCRT I complex (GO:0000813), nucleus (GO:0005634), early endosome (GO:0005769), late endosome (GO:0005770), cytosol (GO:0005829), plasma membrane (GO:0005886), endosome membrane (GO:0010008), late endosome membrane (GO:0031902), vesicle (GO:0031982), extracellular exosome (GO:0070062), cytoplasm (GO:0005737), endosome (GO:0005768), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-12 pathways:

Category	Pathways
Late Phase of HIV Life Cycle	2
Viral Infection Pathways	2
Synthesis And Processing Of GAG, GAGPOL Polyproteins	1
Membrane Trafficking	1
HCMV Infection	1
Autophagy	1
HIV Infection	1
HIV Life Cycle	1
Assembly Of The HIV Virion	1
Vesicle-mediated transport	1
Disease	1
Infectious disease	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
endosome	3
cellular anatomical structure	3
viral process	2
binding	2
endosome membrane	2
transport	1
intracellular protein localization	1
establishment of protein localization	1
viral life cycle	1
multivesicular body organization	1
organelle assembly	1
epidermal growth factor receptor signaling pathway	1
regulation of ERBB signaling pathway	1
ubiquitin-dependent protein catabolic process	1
protein catabolic process in the vacuole	1
multivesicular body sorting pathway	1
intracellular protein transport	1
late endosome to vacuole transport via multivesicular body sorting pathway	1
ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	1
protein localization to vacuole	1
establishment of protein localization to vacuole	1
virion assembly	1
membrane organization	1
ESCRT complex	1
membrane protein complex	1
intracellular membrane-bounded organelle	1
cytoplasm	1
membrane	1
cell periphery	1
cytoplasmic vesicle membrane	1
bounding membrane of organelle	1
late endosome	1
membrane-bounded organelle	1
extracellular vesicle	1
intracellular anatomical structure	1
endomembrane system	1
cytoplasmic vesicle	1

Protein interactions and networks

STRING

670 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MVB12B	VPS28	Q9UK41	931
MVB12B	TSG101	Q99816	920
MVB12B	VPS37A	Q8NEZ2	838
MVB12B	VPS37B	Q9H9H4	711
MVB12B	UBAP1	Q9NZ09	680
MVB12B	VPS37C	A5D8V6	646
MVB12B	VPS37D	Q86XT2	592
MVB12B	VPS36	Q86VN1	591
MVB12B	VPS25	Q9BRG1	561
MVB12B	SNF8	Q96H20	559
MVB12B	CHMP6	Q96FZ7	529
MVB12B	CHMP7	Q8WUX9	504
MVB12B	A0A140T963	A0A140T963	491
MVB12B	CHMP3	Q9Y3E7	483
MVB12B	LONRF2	Q1L5Z9	483

IntAct

25 interactions, top by confidence:

A	B	Type	Score
TSG101	VPS37C	psi-mi:“MI:0914”(association)	0.780
VPS28	VPS37A	psi-mi:“MI:0914”(association)	0.640
METTL15	MVB12B	psi-mi:“MI:0915”(physical association)	0.590
MVB12B	LNX1	psi-mi:“MI:0915”(physical association)	0.560
SLC25A41	NUDT19	psi-mi:“MI:0914”(association)	0.530
ITM2C	MVB12B	psi-mi:“MI:0915”(physical association)	0.400
MVB12B	PLCG1	psi-mi:“MI:0914”(association)	0.350
VPS28	DCAF6	psi-mi:“MI:0914”(association)	0.350
VPS37B	UMAD1	psi-mi:“MI:0914”(association)	0.350
SLC25A41	VPS37C	psi-mi:“MI:0914”(association)	0.350
CERS2	VPS37C	psi-mi:“MI:0914”(association)	0.350
VPS28	PRPF6	psi-mi:“MI:0914”(association)	0.350
CFL2	VPS37C	psi-mi:“MI:0914”(association)	0.350
TSC22D3	VPS37C	psi-mi:“MI:0914”(association)	0.350
P/V/C	MAP4K4	psi-mi:“MI:0914”(association)	0.350
FNTA	VPS37C	psi-mi:“MI:0914”(association)	0.350
UCHL1	SNAP23	psi-mi:“MI:0914”(association)	0.350
EPHA4	MVB12B	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (34): MVB12B (Two-hybrid), MVB12B (Affinity Capture-MS), MVB12B (Affinity Capture-MS), FEM1B (Affinity Capture-MS), PLCG1 (Affinity Capture-MS), MVB12B (Affinity Capture-MS), MVB12B (Affinity Capture-MS), MVB12B (Affinity Capture-MS), MVB12B (Affinity Capture-MS), MVB12B (Affinity Capture-MS), PLCG1 (Affinity Capture-MS), FEM1B (Affinity Capture-MS), MVB12B (Affinity Capture-MS), MVB12B (Affinity Capture-MS), MVB12B (Affinity Capture-MS)

ESM2 similar proteins: A1A5R9, A2RSX4, A5WUY6, A6QQ60, A8MTA8, A8MYP8, B1AR13, H3BNL1, O94888, P21580, P54277, Q08BC4, Q13542, Q14161, Q14CM0, Q2TBS4, Q3KQ80, Q3UGM2, Q4KLY8, Q4R8V9, Q4R8W3, Q5BK20, Q5M8M2, Q5RDJ2, Q5RDU9, Q5REY7, Q5TH74, Q5ZLS2, Q60769, Q658L1, Q6IE70, Q6KAU4, Q6P5G6, Q6PGH2, Q6ZWH5, Q8BGF7, Q8BQB6, Q8C8J0, Q8IWR0, Q8K2D3

Diamond homologs: Q3T0N1, Q5ZJX7, Q6KAU4, Q6P777, Q78HU3, Q7SXX7, Q7ZYJ7, Q96EY5, Q9H7P6

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 23 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
Budding and maturation of HIV virion	5	120.0×	2e-08
Endosomal Sorting Complex Required For Transport (ESCRT)	5	108.3×	2e-08
Late endosomal microautophagy	5	96.0×	3e-08
HCMV Late Events	5	29.0×	1e-05

GO biological processes:

GO term	Partners	Fold	FDR
protein transport to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	5	250.8×	1e-09
viral budding via host ESCRT complex	5	191.1×	3e-09
ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	5	129.4×	2e-08
multivesicular body assembly	5	125.4×	2e-08
membrane fission	5	97.9×	5e-08
macroautophagy	5	57.3×	6e-07

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	44
Likely benign	6
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

3468 predictions. Top by Δscore:

Variant	Effect	Δscore
9:126327012:T:G	donor_gain	1.0000
9:126327012:T:TG	donor_gain	1.0000
9:126327016:G:GG	donor_gain	1.0000
9:126340497:T:TA	acceptor_gain	1.0000
9:126340500:T:TA	acceptor_gain	1.0000
9:126340507:G:GT	acceptor_gain	1.0000
9:126340626:ACGTA:A	donor_gain	1.0000
9:126340627:CGTAG:C	donor_loss	1.0000
9:126340628:GTA:G	donor_gain	1.0000
9:126340628:GTAGT:G	donor_loss	1.0000
9:126340629:TA:T	donor_gain	1.0000
9:126340629:TAGTA:T	donor_loss	1.0000
9:126340630:AGTAA:A	donor_loss	1.0000
9:126340631:G:GG	donor_gain	1.0000
9:126340631:GTA:G	donor_loss	1.0000
9:126340632:TAA:T	donor_loss	1.0000
9:126381170:AT:A	donor_gain	1.0000
9:126381172:G:GG	donor_gain	1.0000
9:126381956:G:GT	donor_gain	1.0000
9:126386560:A:G	acceptor_gain	1.0000
9:126386659:G:GG	donor_gain	1.0000
9:126392064:A:AG	acceptor_gain	1.0000
9:126392064:AGAG:A	acceptor_gain	1.0000
9:126392065:G:GG	acceptor_gain	1.0000
9:126392065:GA:G	acceptor_gain	1.0000
9:126392065:GAGG:G	acceptor_gain	1.0000
9:126392065:GAGGA:G	acceptor_gain	1.0000
9:126392194:GG:G	donor_gain	1.0000
9:126392195:GG:G	donor_gain	1.0000
9:126392195:GGTGA:G	donor_loss	1.0000

AlphaMissense

2076 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:126340575:T:A	I50N	1.000
9:126340575:T:G	I50S	1.000
9:126340584:T:A	V53D	1.000
9:126381092:C:A	A78D	1.000
9:126381098:T:C	L80P	1.000
9:126381116:T:C	F86S	1.000
9:126381134:G:C	R92T	1.000
9:126381134:G:T	R92I	1.000
9:126381135:A:C	R92S	1.000
9:126381135:A:T	R92S	1.000
9:126381136:T:G	Y93D	1.000
9:126381142:T:C	C95R	1.000
9:126381144:T:G	C95W	1.000
9:126386578:T:A	V110E	1.000
9:126386581:T:C	L111S	1.000
9:126386596:T:C	L116P	1.000
9:126386625:G:C	G126R	1.000
9:126386628:T:A	F127I	1.000
9:126386628:T:C	F127L	1.000
9:126386629:T:C	F127S	1.000
9:126386630:C:A	F127L	1.000
9:126386630:C:G	F127L	1.000
9:126392095:T:C	C147R	1.000
9:126392131:G:C	A159P	1.000
9:126392132:C:A	A159E	1.000
9:126392135:T:A	I160N	1.000
9:126392194:G:A	G180R	1.000
9:126392194:G:C	G180R	1.000
9:126392194:G:T	G180W	1.000
9:126392195:G:A	G180E	1.000

dbSNP variants (sampled 300 via entrez): RS1000007826 (9:126474197 C>T), RS1000023111 (9:126412572 C>G), RS1000049354 (9:126364477 G>T), RS1000053605 (9:126466600 A>C,T), RS1000092095 (9:126406911 T>C), RS1000101776 (9:126377913 G>A), RS1000106062 (9:126372599 C>T), RS1000119411 (9:126483102 G>A,C), RS1000147907 (9:126493768 T>G), RS1000154795 (9:126332732 C>T), RS1000159295 (9:126430146 T>C), RS1000163156 (9:126505672 G>A,C), RS1000175860 (9:126471130 T>C), RS1000192108 (9:126482902 G>C), RS1000203329 (9:126437084 G>T)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

13 associations (top):

Study	Trait	p-value
GCST001762_399	Obesity-related traits	6.000000e-07
GCST002356_1	Intraocular pressure	6.000000e-06
GCST003476_10	Eyebrow thickness	3.000000e-06
GCST003989_1	Chin dimples	1.000000e-08
GCST005982_4	Calcium levels	1.000000e-09
GCST006291_20	Spherical equivalent or myopia (age of diagnosis)	4.000000e-08
GCST007324_19	Adventurousness	2.000000e-09
GCST008103_133	Bipolar disorder	2.000000e-06
GCST010002_280	Refractive error	1.000000e-13
GCST010725_18	Malaria	2.000000e-07
GCST010725_30	Malaria	1.000000e-08
GCST010725_97	Malaria	1.000000e-08
GCST90000025_429	Appendicular lean mass	4.000000e-09

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0004730	hormone measurement
EFO:0004695	intraocular pressure measurement
EFO:0004838	calcium measurement
EFO:0004847	age at onset
EFO:0008579	risk-taking behaviour
EFO:0004980	appendicular lean mass

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, affects expression	8
Benzo(a)pyrene	increases methylation, affects methylation, decreases expression	4
Cadmium Chloride	decreases expression, increases expression	3
entinostat	affects cotreatment, decreases expression	2
(+)-JQ1 compound	decreases expression	2
Tobacco Smoke Pollution	decreases methylation, decreases expression	2
aristolochic acid I	decreases expression	1
dicrotophos	increases expression	1
2,4,6-tribromophenol	decreases expression	1
bisphenol A	decreases methylation, affects cotreatment, increases methylation	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
butyraldehyde	decreases expression	1
tetrabromobisphenol A	decreases expression	1
perfluorooctanoic acid	increases expression	1
potassium chromate(VI)	increases expression	1
aflatoxin B2	decreases methylation	1
versicolorin A	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, decreases expression	1
beta-methylcholine	affects expression	1
K 7174	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
abrine	decreases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
dorsomorphin	decreases expression, affects cotreatment	1
pentabrominated diphenyl ether 100	decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
NSC 689534	affects binding, decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Vorinostat	decreases expression	1
Caffeine	affects phosphorylation	1

Clinical trials (associated diseases)

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