TUB

Summary

TUB (TUB bipartite transcription factor, HGNC:12406) is a protein-coding gene on chromosome 11p15.4, encoding Tubby protein homolog (P50607). Functions in signal transduction from heterotrimeric G protein-coupled receptors.

This gene encodes a member of the Tubby family of bipartite transcription factors. The encoded protein may play a role in obesity and sensorineural degradation. The crystal structure has been determined for a similar protein in mouse, and it functions as a membrane-bound transcription regulator that translocates to the nucleus in response to phosphoinositide hydrolysis. Two transcript variants encoding distinct isoforms have been identified for this gene.

Source: NCBI Gene 7275 — RefSeq curated summary.

At a glance

• Gene–disease (curated): retinal dystrophy and obesity (Strong, GenCC) — +2 more curated relationships
• GWAS associations: 11
• Clinical variants (ClinVar): 198 total — 3 pathogenic, 2 likely-pathogenic
• Phenotypes (HPO): 41
• MANE Select transcript: NM_177972

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:12406
Approved symbol	TUB
Name	TUB bipartite transcription factor
Location	11p15.4
Locus type	gene with protein product
Status	Approved
Aliases	rd5
Ensembl gene	ENSG00000166402
Ensembl biotype	protein_coding
OMIM	601197
Entrez	7275

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 4 protein_coding

ENST00000299506, ENST00000305253, ENST00000534099, ENST00000919548

RefSeq mRNA: 2 — MANE Select: NM_177972 NM_003320, NM_177972

CCDS: CCDS7786, CCDS7787

Canonical transcript exons

ENST00000299506 — 12 exons

Exon	Start	End
ENSE00001102639	8100503	8100601
ENSE00001102642	8100826	8100997
ENSE00001102650	8090069	8090231
ENSE00001102652	8094046	8094189
ENSE00001102658	8089610	8089661
ENSE00001274634	8098758	8098875
ENSE00001274640	8097714	8097826
ENSE00001274645	8097228	8097425
ENSE00001274649	8096685	8096806
ENSE00001274656	8095498	8095665
ENSE00001274703	8081211	8081548
ENSE00002199626	8101486	8106243

Expression profiles

Bgee: expression breadth ubiquitous, 240 present calls, max score 98.06.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.1090 / max 168.6477, expressed in 993 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
112936	3.1493	651
112933	2.6188	817
112935	1.3594	521
112931	0.6498	206
112934	0.1291	66
112932	0.1138	64
206179	0.0888	30

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
substantia nigra pars reticulata	UBERON:0001966	98.06	gold quality
substantia nigra pars compacta	UBERON:0001965	97.79	gold quality
middle temporal gyrus	UBERON:0002771	95.31	gold quality
postcentral gyrus	UBERON:0002581	94.52	gold quality
entorhinal cortex	UBERON:0002728	94.03	gold quality
parietal lobe	UBERON:0001872	93.87	gold quality
superior frontal gyrus	UBERON:0002661	93.17	gold quality
superior vestibular nucleus	UBERON:0007227	92.76	gold quality
pons	UBERON:0000988	92.64	gold quality
ventral tegmental area	UBERON:0002691	91.85	gold quality
pituitary gland	UBERON:0000007	90.80	gold quality
cortical plate	UBERON:0005343	90.78	gold quality
temporal lobe	UBERON:0001871	90.75	gold quality
bronchial epithelial cell	CL:0002328	90.57	gold quality
Brodmann (1909) area 23	UBERON:0013554	90.32	gold quality
lateral globus pallidus	UBERON:0002476	89.62	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	89.51	gold quality
tibia	UBERON:0000979	89.31	gold quality
midbrain	UBERON:0001891	89.27	gold quality
lateral nuclear group of thalamus	UBERON:0002736	89.13	gold quality
substantia nigra	UBERON:0002038	89.08	gold quality
cerebral cortex	UBERON:0000956	89.05	gold quality
Ammon’s horn	UBERON:0001954	89.05	gold quality
frontal cortex	UBERON:0001870	89.04	gold quality
cingulate cortex	UBERON:0003027	89.04	gold quality
neocortex	UBERON:0001950	88.97	gold quality
adenohypophysis	UBERON:0002196	88.92	gold quality
right frontal lobe	UBERON:0002810	88.92	gold quality
endocervix	UBERON:0000458	88.89	gold quality
amygdala	UBERON:0001876	88.89	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

223 targeting TUB, 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-4262	100.00	73.26	3931
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-6758-5P	100.00	66.21	1470
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-557	99.96	70.01	1640
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-218-5P	99.93	72.22	2103
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-22-3P	99.93	68.13	917
HSA-MIR-539-5P	99.93	70.30	2855

Literature-anchored findings (GeneRIF, showing 15)

• Crystal structure of the core domain of the mouse Tubby protein. (PMID:10591637)
• Mouse Tubby protein may function as a membrane-bound transcription regulator that translocates to the nucleus in response to phosphoinositide hydrolysis, providing a direct link between G-protein signaling and the regulation of gene expression. (PMID:11375483)
• TUB could be an important factor in controlling the central regulation of body weight in humans. (PMID:16443771)
• found the presence of tubby protein both in normal weight and in obese subjects; however in the latter an isoelectric point shift toward the acidic end was observed (PMID:17498679)
• TUB is a candidate gene for late-onset obesity in humans (PMID:17955208)
• Genetic variation of the TUB gene was associated with both body composition and macronutrient intake, suggesting that TUB might influence eating behavior (PMID:18183286)
• Tubby and Tulp1 function as phagocytosis sigmals (eat-me) for retinal pigment epithelium cells and other phagocytes. (PMID:19837063)
• Tubby and Tulp1 are bridging molecules with their N-terminal region as MERTK-binding domain and C-terminal region as phagocytosis prey-binding domain. (PMID:20978472)
• Tubby and Tulp1 mediated phagocytosis through MerTK-dependent signaling with non-muscle myosin II redistribution leading to colocalization of phagocytosed vesicles with rearranged NMMIIA. (PMID:24664737)
• Studied the expression and distribution patterns of tubby bipartite transcription factor (TUB) in the hypothalamus and in adipose tissue in obese and healthy controls. (PMID:28852204)
• Candidate variants in TUB are associated with familial tremor. (PMID:32956375)
• Lnc-OIP5-AS1 exacerbates aorta wall injury during the development of aortic dissection through upregulating TUB via sponging miR-143-3p. (PMID:33577845)
• Common genetic variants associated with obesity in an African-American and Hispanic/Latino population. (PMID:33983957)
• Biallelic Inactivating TUB Variants Cause Retinal Ciliopathy Impairing Biogenesis and the Structure of the Primary Cilium. (PMID:36498982)
• A novel homozygous TUB mutation associated with autosomal recessive retinitis pigmentosa in a consanguineous Chinese family. (PMID:36650547)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	tub	ENSDARG00000062165
mus_musculus	Tub	ENSMUSG00000031028
rattus_norvegicus	Tub	ENSRNOG00000046566

Paralogs (5): TULP3 (ENSG00000078246), TULP2 (ENSG00000104804), TULP1 (ENSG00000112041), WDR35 (ENSG00000118965), TULP4 (ENSG00000130338)

Protein

Protein identifiers

Tubby protein homolog — P50607 (reviewed: P50607)

All UniProt accessions (2): E9PQR4, P50607

UniProt curated annotations — full annotation on UniProt →

Function. Functions in signal transduction from heterotrimeric G protein-coupled receptors. Binds to membranes containing phosphatidylinositol 4,5-bisphosphate. Can bind DNA (in vitro). May contribute to the regulation of transcription in the nucleus. Could be involved in the hypothalamic regulation of body weight. Contribute to stimulation of phagocytosis of apoptotic retinal pigment epithelium (RPE) cells and macrophages.

Subunit / interactions. Interacts with GNAQ. Interacts with TULP1.

Subcellular location. Cytoplasm. Nucleus. Secreted. Cell membrane.

Disease relevance. Retinal dystrophy and obesity (RDOB) [MIM:616188] A disease characterized by obesity, night blindness, decreased visual acuity, and electrophysiological features of a rod cone dystrophy. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the TUB family.

Isoforms (2)

UniProt ID	Names	Canonical?
P50607-1	1	yes
P50607-2	2

RefSeq proteins (2): NP_003311, NP_813977* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000007	Tubby_C	Domain
IPR005398	Tubby_N	Domain
IPR018066	Tubby_C_CS	Conserved_site
IPR025659	Tubby-like_C	Homologous_superfamily

Pfam: PF01167, PF16322

UniProt features (31 total): strand 15, helix 6, compositionally biased region 5, turn 2, chain 1, region of interest 1, splice variant 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
1S31	X-RAY DIFFRACTION	2.7

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P50607-F1	70.46	0.40

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 251 (showing top): MORF_RAGE, GOBP_POSITIVE_REGULATION_OF_ENDOCYTOSIS, GOBP_SENSORY_PERCEPTION_OF_MECHANICAL_STIMULUS, GOBP_PROTEIN_LOCALIZATION_TO_CILIUM, GOBP_VESICLE_MEDIATED_TRANSPORT, MODULE_16, GGGTGGRR_PAX4_03, GOBP_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY, GOBP_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT, GOBP_PHOTORECEPTOR_CELL_MAINTENANCE, TGCTGAY_UNKNOWN, GOBP_CILIUM_ORGANIZATION, GOBP_POSITIVE_REGULATION_OF_PHAGOCYTOSIS, MODULE_157, GOBP_REGULATION_OF_ENDOCYTOSIS

GO Biological Process (11): phagocytosis, recognition (GO:0006910), sensory perception of sound (GO:0007605), regulation of G protein-coupled receptor signaling pathway (GO:0008277), intraciliary transport (GO:0042073), photoreceptor cell maintenance (GO:0045494), positive regulation of phagocytosis (GO:0050766), retina development in camera-type eye (GO:0060041), protein localization to cilium (GO:0061512), receptor localization to non-motile cilium (GO:0097500), protein localization to photoreceptor outer segment (GO:1903546), phagocytosis (GO:0006909)

GO Molecular Function (3): G protein-coupled receptor binding (GO:0001664), protein-containing complex binding (GO:0044877), intraciliary transport particle A binding (GO:0120160)

GO Cellular Component (7): extracellular region (GO:0005576), nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829), plasma membrane (GO:0005886), cilium (GO:0005929), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
phagocytosis	2
protein localization to non-motile cilium	2
cell recognition	1
cargo receptor activity	1
sensory perception of mechanical stimulus	1
G protein-coupled receptor signaling pathway	1
regulation of signal transduction	1
cilium	1
transport along microtubule	1
cilium organization	1
retina homeostasis	1
multicellular organismal process	1
positive regulation of endocytosis	1
regulation of phagocytosis	1
camera-type eye development	1
anatomical structure development	1
protein localization to organelle	1
protein localization to ciliary membrane	1
endocytosis	1
signaling receptor binding	1
binding	1
protein-containing complex binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cytoplasm	1
membrane	1
cell periphery	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1

Protein interactions and networks

STRING

1408 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TUB	RD3	Q7Z3Z2	642
TUB	GAPDH	P00354	601
TUB	PCSK1	P29120	598
TUB	HBB	P02023	596
TUB	EEF1A2	P54266	586
TUB	POLR2B	P30876	583
TUB	LGALS4	P56470	582
TUB	EEF1A1	P04719	581
TUB	PDE6B	P35913	580
TUB	MFRP	Q9BY79	573
TUB	CPE	P16870	568
TUB	ARL13B	Q3SXY8	559
TUB	GAS7	O60861	549
TUB	ANKRD26	Q9UPS8	549
TUB	TIPRL	O75663	547

IntAct

8 interactions, top by confidence:

A	B	Type	Score
TUB	NME4	psi-mi:“MI:0914”(association)	0.350
TULP3	PPP1R12A	psi-mi:“MI:0914”(association)	0.350
KDM5C	SPAG6	psi-mi:“MI:0914”(association)	0.350
C4BPA	SPAG6	psi-mi:“MI:0914”(association)	0.350
RORB	TUB	psi-mi:“MI:0914”(association)	0.350
SMYD5	TUB	psi-mi:“MI:0914”(association)	0.350
KRAS	ESYT2	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (27): TUB (Affinity Capture-MS), TUB (Proximity Label-MS), TUB (Reconstituted Complex), TUB (Affinity Capture-Western), TUB (Biochemical Activity), TUB (Biochemical Activity), GPC1 (Affinity Capture-MS), RPF2 (Affinity Capture-MS), H2AFX (Affinity Capture-MS), TUB (Affinity Capture-MS), GSG2 (Affinity Capture-MS), ELAVL4 (Affinity Capture-MS), NRXN3 (Affinity Capture-MS), RBM34 (Affinity Capture-MS), GPC3 (Affinity Capture-MS)

ESM2 similar proteins: A8WN62, B0W3R7, B0WI30, B0XFQ9, B3MDU3, B3NJY0, B4H4X0, B4I7J9, B4J6R7, B4KNA9, B4LMR9, B4MKC7, B4P9H8, B4QFM2, G5EEM9, O02626, O75386, O88413, O88808, O94446, O95251, P30630, P50586, P50607, P90895, Q08649, Q09306, Q16IR1, Q16KI5, Q22712, Q28X18, Q4P3S3, Q5A7Q2, Q5SVQ0, Q61T02, Q6BU95, Q6C710, Q6CKE9, Q6CKX0, Q6FKN6

Diamond homologs: A8WN62, B0WI30, B0XFQ9, B3MDU3, B3NJY0, B4H4X0, B4I7J9, B4J6R7, B4KNA9, B4LMR9, B4MKC7, B4P9H8, B4QFM2, O00294, O00295, O75386, O88413, O88808, P46686, P50586, P50607, Q09306, Q0WPY0, Q10LG8, Q16IR1, Q16KI5, Q28X18, Q2QXB2, Q53PP5, Q5QM27, Q688Y7, Q68Y48, Q69U54, Q6NPQ1, Q6Z2G9, Q75HX5, Q7PZK5, Q7XSV4, Q86PC9, Q8GVE5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	2
Uncertain significance	108
Likely benign	72
Benign	7

Top pathogenic / likely-pathogenic (5)

Variant ID	HGVS	Classification
1357363	NM_177972.3(TUB):c.1116+1G>T	Pathogenic
1426537	NM_177972.3(TUB):c.373A>T (p.Lys125Ter)	Pathogenic
1457444	NC_000011.9:g.(?8118755)(8120442_?)del	Pathogenic
2700878	NM_177972.3(TUB):c.1387+1del	Likely pathogenic
3780770	NM_177972.3(TUB):c.34dup (p.Tyr12fs)	Likely pathogenic

SpliceAI

2231 predictions. Top by Δscore:

Variant	Effect	Δscore
11:8081547:AGGTA:A	donor_loss	1.0000
11:8089608:A:AG	acceptor_gain	1.0000
11:8089609:G:GG	acceptor_gain	1.0000
11:8089609:GT:G	acceptor_gain	1.0000
11:8089662:G:GA	donor_loss	1.0000
11:8089663:T:G	donor_loss	1.0000
11:8090065:ATAGC:A	acceptor_gain	1.0000
11:8090066:TA:T	acceptor_loss	1.0000
11:8090067:A:AG	acceptor_gain	1.0000
11:8090067:AGC:A	acceptor_gain	1.0000
11:8090067:AGCG:A	acceptor_gain	1.0000
11:8090067:AGCGG:A	acceptor_gain	1.0000
11:8090068:G:GG	acceptor_gain	1.0000
11:8090068:GC:G	acceptor_gain	1.0000
11:8090068:GCG:G	acceptor_gain	1.0000
11:8090068:GCGG:G	acceptor_gain	1.0000
11:8090068:GCGGG:G	acceptor_gain	1.0000
11:8094023:A:AG	acceptor_gain	1.0000
11:8094023:ATCT:A	acceptor_gain	1.0000
11:8094023:ATCTG:A	acceptor_gain	1.0000
11:8094024:T:G	acceptor_gain	1.0000
11:8094026:T:A	acceptor_gain	1.0000
11:8094027:G:A	acceptor_gain	1.0000
11:8096677:T:A	acceptor_gain	1.0000
11:8096678:G:A	acceptor_gain	1.0000
11:8096756:C:G	donor_gain	1.0000
11:8096794:G:GT	donor_gain	1.0000
11:8096805:GG:G	donor_gain	1.0000
11:8096806:GG:G	donor_gain	1.0000
11:8096815:G:GG	donor_gain	1.0000

AlphaMissense

3327 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:8097316:C:A	A259D	1.000
11:8097339:T:C	C267R	1.000
11:8097341:C:G	C267W	1.000
11:8097346:T:A	I269N	1.000
11:8097351:C:G	R271G	1.000
11:8097352:G:C	R271P	1.000
11:8097352:G:T	R271L	1.000
11:8097363:G:A	G275R	1.000
11:8097363:G:C	G275R	1.000
11:8097364:G:A	G275E	1.000
11:8097385:C:A	P282H	1.000
11:8097390:T:C	Y284H	1.000
11:8097390:T:G	Y284D	1.000
11:8097397:T:C	L286P	1.000
11:8097717:T:C	F297L	1.000
11:8097718:T:C	F297S	1.000
11:8097719:C:A	F297L	1.000
11:8097719:C:G	F297L	1.000
11:8097721:T:C	L298P	1.000
11:8097724:T:C	L299P	1.000
11:8097726:G:C	A300P	1.000
11:8097727:C:A	A300E	1.000
11:8097729:G:A	G301R	1.000
11:8097729:G:C	G301R	1.000
11:8097730:G:A	G301E	1.000
11:8097733:G:C	R302T	1.000
11:8097733:G:T	R302M	1.000
11:8097734:G:C	R302S	1.000
11:8097734:G:T	R302S	1.000
11:8097735:A:G	K303E	1.000

dbSNP variants (sampled 300 via entrez): RS1000006631 (11:8092818 G>A), RS1000036415 (11:8099076 G>A), RS1000060116 (11:8086407 G>A), RS1000066580 (11:8068617 C>A,T), RS1000068592 (11:8055298 C>G,T), RS1000074887 (11:8091736 C>A,G), RS1000075130 (11:8017773 G>A), RS1000086116 (11:8052037 C>T), RS1000094466 (11:8091238 C>T), RS1000103721 (11:8087554 T>C), RS1000150312 (11:8050546 T>C,G), RS1000206986 (11:8084049 G>A,T), RS1000244809 (11:8082438 A>G), RS1000294227 (11:8061862 G>A), RS1000299750 (11:8076499 T>A)

Disease associations

OMIM: gene MIM:601197 | disease phenotypes: MIM:616188

GenCC curated gene-disease

Disease	Classification	Inheritance
retinal dystrophy and obesity	Strong	Autosomal recessive
retinitis pigmentosa	Supportive	Autosomal dominant
essential tremor	Limited	Autosomal dominant

Mondo (5): retinal dystrophy and obesity (MONDO:0014522), inherited retinal dystrophy (MONDO:0019118), autism spectrum disorder (MONDO:0005258), essential tremor (MONDO:0003233), retinitis pigmentosa (MONDO:0019200)

Orphanet (3): Retinitis pigmentosa (Orphanet:791), OBSOLETE: Inherited retinal disorder (Orphanet:71862), NON RARE IN EUROPE: Autism (Orphanet:106)

HPO phenotypes

41 total (30 of 41 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000405	Conductive hearing impairment
HP:0000407	Sensorineural hearing impairment
HP:0000483	Astigmatism
HP:0000501	Glaucoma
HP:0000505	Visual impairment
HP:0000512	Abnormal electroretinogram
HP:0000541	Retinal detachment
HP:0000543	Optic disc pallor
HP:0000545	Myopia
HP:0000546	Retinal degeneration
HP:0000551	Color vision defect
HP:0000556	Retinal dystrophy
HP:0000563	Keratoconus
HP:0000602	Ophthalmoplegia
HP:0000613	Photophobia
HP:0000618	Blindness
HP:0000639	Nystagmus
HP:0000648	Optic atrophy
HP:0000662	Nyctalopia
HP:0000842	Hyperinsulinemia
HP:0001105	Retinal atrophy
HP:0001513	Obesity
HP:0003621	Juvenile onset
HP:0007663	Reduced visual acuity
HP:0007675	Progressive night blindness
HP:0007703	Abnormal retinal pigmentation
HP:0007722	Retinal pigment epithelial atrophy
HP:0007737	Spicular pigmentation of the retina
HP:0007787	Posterior subcapsular cataract

GWAS associations

11 associations (top):

Study	Trait	p-value
GCST000830_35	Body mass index	3.000000e-09
GCST005950_10	Body mass index x sex x age interaction (4df test)	6.000000e-11
GCST005951_51	Body mass index	8.000000e-11
GCST005953_4	Body mass index (age <50)	4.000000e-11
GCST006086_18	Familial lung cancer	8.000000e-06
GCST006087_3	Familial lung adenocarcinoma	7.000000e-06
GCST006281_12	Coronary artery disease in type 1 diabetes	3.000000e-06
GCST010725_20	Malaria	4.000000e-69
GCST010725_33	Malaria	2.000000e-67
GCST010725_51	Malaria	1.000000e-55
GCST012442_47	Age-related hearing impairment	4.000000e-12

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0008007	age at assessment
EFO:0008343	sex interaction measurement
EFO:0006953	family history of lung cancer

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
D020329	Essential Tremor	C10.228.662.350
D058499	Retinal Dystrophies	C11.768.585.658
D012174	Retinitis Pigmentosa	C11.270.684; C11.768.585.658.500; C16.320.290.684

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression, increases methylation	4
bisphenol A	decreases expression, increases expression	3
sodium arsenite	affects methylation, decreases expression	2
Nickel	decreases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
FR900359	decreases phosphorylation	1
triphenyl phosphate	affects expression	1
2,4,5,2’,4’,5’-hexachlorobiphenyl	decreases expression	1
3,4,5,3’,4’-pentachlorobiphenyl	decreases expression	1
perfluorooctanoic acid	decreases expression	1
beta-methylcholine	affects expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
2-palmitoylglycerol	increases 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	affects cotreatment, decreases expression	1
bisphenol S	increases methylation	1
jinfukang	affects cotreatment, increases expression	1
(+)-JQ1 compound	decreases expression	1
Resveratrol	increases expression	1
Decitabine	decreases reaction, decreases expression	1
Leflunomide	decreases expression	1
Acetaminophen	decreases expression	1
Benzo(a)pyrene	affects methylation	1
Calcitriol	affects cotreatment, decreases expression	1
Cisplatin	affects cotreatment, increases expression	1
Diazinon	increases methylation	1
Estradiol	affects expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00439699	PHASE4	COMPLETED	A Pilot Clinical Trial Of Memantine for Essential Tremor
NCT00584376	PHASE4	COMPLETED	Pregabalin (Lyrica) for the Treatment of Essential Tremor
NCT00998660	PHASE4	COMPLETED	RECHARGE Sub-Study to the Implantable Systems Performance Registry (ISPR)
NCT02111369	PHASE4	COMPLETED	Propranolol and Botulinum Toxin for Essential Vocal Tremor
NCT02495883	PHASE4	COMPLETED	Functional Imaging of Tremor Circuits and Mechanisms of Treatment Response
NCT00717080	PHASE4	COMPLETED	The Role of Capsular Tension Ring (CTR) in Anterior Capsular Contraction
NCT00391261	PHASE4	COMPLETED	An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications.
NCT01028820	PHASE4	COMPLETED	FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders
NCT01333865	PHASE4	COMPLETED	A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders
NCT01337700	PHASE4	COMPLETED	Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism
NCT01695200	PHASE4	COMPLETED	Omega-3 Fatty Acids in Autism Spectrum Disorders
NCT02096952	PHASE4	COMPLETED	Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD
NCT02235467	PHASE4	COMPLETED	Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism
NCT02940574	PHASE4	COMPLETED	Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders
NCT03333629	PHASE4	COMPLETED	Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes
NCT03337646	PHASE4	COMPLETED	Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism
NCT03538431	PHASE4	COMPLETED	Improving Driving in Young People With Autism Spectrum Disorders
NCT03757585	PHASE4	COMPLETED	Natural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD)
NCT04903353	PHASE4	COMPLETED	Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole
NCT05063656	PHASE4	COMPLETED	Biomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin
NCT05146245	PHASE4	UNKNOWN	Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT
NCT05916339	PHASE4	RECRUITING	AWARE: Management of ADHD in Autism Spectrum Disorder
NCT05954052	PHASE4	TERMINATED	A Study of Glutathione in Children With Autism Spectrum Disorder
NCT06853665	PHASE4	RECRUITING	The TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine
NCT07054697	PHASE4	COMPLETED	Pilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder
NCT07161804	PHASE4	COMPLETED	Pilot RCT Using Homeopathic Medicines in ASD
NCT07439042	PHASE4	NOT_YET_RECRUITING	Buspirone for Anxiety in Autistic Youth
NCT00018564	PHASE3	COMPLETED	Novel Therapies for Essential Tremor
NCT00236496	PHASE3	COMPLETED	A Comparison of the Efficacy and Safety of Topiramate Versus Placebo in Treating Tremor of Unknown Cause.
NCT01441284	PHASE3	WITHDRAWN	Efficacy of Pramipexole Extended Release in the Treatment of Essential Tremor
NCT04193527	PHASE3	COMPLETED	A Study to Evaluate the Diagnostic Efficacy of DaTSCAN™ Ioflupane (123I) Injection in Single Photon Emission Computed Tomography (SPECT) for the Diagnosis of Parkinsonian Syndrome (PS) in Chinese Patients
NCT04265209	PHASE3	COMPLETED	[18F] LBT-999 PET Compared to [123I]-FP/CIT SPECT to Distinguish Between Parkinson’s Diseases and Essential Tremor
NCT06087276	PHASE3	ENROLLING_BY_INVITATION	Essential 3 - Decentralized, Phase 3 Study Evaluating the Safety and Efficacy of Ulixacaltamide in Essential Tremor (ET)
NCT00000114	PHASE3	COMPLETED	Randomized Trial of Vitamin A and Vitamin E Supplementation for Retinitis Pigmentosa
NCT00000116	PHASE3	COMPLETED	Randomized Trial of DHA for Retinitis Pigmentosa Patients Receiving Vitamin A
NCT00346333	PHASE3	COMPLETED	Clinical Trial of Lutein for Patients With Retinitis Pigmentosa Receiving Vitamin A
NCT01786395	PHASE3	TERMINATED	Phase III Efficacy and Safety Clinical Study of UF-021 for Treatment of Retinitis Pigmentosa
NCT04224207	PHASE3	COMPLETED	Management of Retinitis Pigmentosa by Mesenchymal Stem Cells by Wharton’s Jelly Derived Mesenchymal Stem Cells
NCT04636853	PHASE3	COMPLETED	CB-PRP in Retinitis Pigmentosa and Dry Age-related Macular Degeneration
NCT05537220	PHASE3	ACTIVE_NOT_RECRUITING	Oral N-acetylcysteine for Retinitis Pigmentosa