TTYH3

Summary

TTYH3 (tweety family member 3, HGNC:22222) is a protein-coding gene on chromosome 7p22.3, encoding Protein tweety homolog 3 (Q9C0H2). Calcium-independent, swelling-dependent volume-regulated anion channel (VRAC-swell) which plays a pivotal role in the process of regulatory volume decrease (RVD) in the brain through the efflux of anions like chloride and organic osmolytes like glutamate.

This gene encodes a member of the tweety family of proteins. Members of this family function as chloride anion channels. The encoded protein functions as a calcium(2+)-activated large conductance chloride(-) channel.

Source: NCBI Gene 80727 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 107 total
• MANE Select transcript: NM_025250

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:22222
Approved symbol	TTYH3
Name	tweety family member 3
Location	7p22.3
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1691
Ensembl gene	ENSG00000136295
Ensembl biotype	protein_coding
OMIM	608919
Entrez	80727

Gene structure

Transcript identifiers

Ensembl transcripts: 20 — 18 protein_coding, 1 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000258796, ENST00000400376, ENST00000403167, ENST00000407643, ENST00000429448, ENST00000477439, ENST00000498454, ENST00000913078, ENST00000913079, ENST00000913080, ENST00000913081, ENST00000913082, ENST00000913083, ENST00000913084, ENST00000913085, ENST00000913086, ENST00000913087, ENST00000913088, ENST00000913089, ENST00000969081

RefSeq mRNA: 1 — MANE Select: NM_025250 NM_025250

CCDS: CCDS34588

Canonical transcript exons

ENST00000258796 — 14 exons

Exon	Start	End
ENSE00000976245	2658940	2659015
ENSE00000976246	2661668	2664802
ENSE00001035430	2631986	2632278
ENSE00001343933	2658286	2658459
ENSE00003479104	2656398	2656534
ENSE00003546781	2656092	2656184
ENSE00003990147	2652918	2653010
ENSE00003990149	2647142	2647253
ENSE00003990150	2649567	2649639
ENSE00003990151	2649913	2649988
ENSE00003990152	2647959	2648054
ENSE00003990153	2647418	2647638
ENSE00003990154	2646853	2647022
ENSE00003990155	2652187	2652242

Expression profiles

Bgee: expression breadth ubiquitous, 215 present calls, max score 99.10.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 60.1497 / max 1529.2728, expressed in 1797 samples.

FANTOM5 promoters (17 alternative TSS)

Promoter ID	TPM avg	Samples expressed
76995	27.8704	1709
76994	23.0097	1774
77016	2.0863	1013
77006	1.8075	49
76996	1.4781	962
77009	0.7313	424
77014	0.6839	372
77008	0.6427	373
77001	0.5036	245
77022	0.2946	141

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ventricular zone	UBERON:0003053	99.10	gold quality
ganglionic eminence	UBERON:0004023	98.59	gold quality
embryo	UBERON:0000922	98.58	gold quality
stromal cell of endometrium	CL:0002255	98.45	gold quality
cortical plate	UBERON:0005343	97.50	gold quality
right hemisphere of cerebellum	UBERON:0014890	96.95	gold quality
cerebellar cortex	UBERON:0002129	96.36	gold quality
cerebellar hemisphere	UBERON:0002245	96.36	gold quality
cerebellum	UBERON:0002037	95.55	gold quality
monocyte	CL:0000576	93.80	gold quality
leukocyte	CL:0000738	93.74	gold quality
right frontal lobe	UBERON:0002810	93.28	gold quality
ileal mucosa	UBERON:0000331	93.15	gold quality
metanephros cortex	UBERON:0010533	93.06	gold quality
kidney epithelium	UBERON:0004819	93.01	silver quality
prefrontal cortex	UBERON:0000451	92.98	gold quality
granulocyte	CL:0000094	92.94	gold quality
anterior cingulate cortex	UBERON:0009835	92.90	gold quality
cerebellar vermis	UBERON:0004720	92.73	gold quality
vermiform appendix	UBERON:0001154	91.69	gold quality
Brodmann (1909) area 9	UBERON:0013540	91.64	gold quality
neocortex	UBERON:0001950	91.53	gold quality
frontal cortex	UBERON:0001870	91.52	gold quality
spleen	UBERON:0002106	91.12	gold quality
amygdala	UBERON:0001876	91.02	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	90.67	gold quality
gall bladder	UBERON:0002110	90.66	gold quality
cortex of kidney	UBERON:0001225	90.55	gold quality
nucleus accumbens	UBERON:0001882	90.36	gold quality
left adrenal gland cortex	UBERON:0035825	90.31	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-MTAB-6678	yes	39.02
E-ANND-3	yes	22.52
E-CURD-112	yes	15.21

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): ETS1

miRNA regulators (miRDB)

214 targeting TTYH3, 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-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
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-6748-5P	100.00	65.81	1057
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-185-3P	99.95	67.01	1743
HSA-MIR-101-3P	99.94	75.03	2230
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-218-5P	99.93	72.22	2103
HSA-MIR-22-3P	99.93	68.13	917
HSA-MIR-12133	99.92	71.82	2006
HSA-MIR-1271-5P	99.91	71.99	1972
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394

Literature-anchored findings (GeneRIF, showing 8)

• Nedd4-2 differentially interacts with and regulates TTYH1-3 (PMID:18577513)
• Identification and characterization of a BRAF fusion oncoprotein with retained autoinhibitory domains. (PMID:31558800)
• Cryo-EM structures of the TTYH family reveal a novel architecture for lipid interactions. (PMID:34385445)
• Upregulation of TTYH3 promotes epithelial-to-mesenchymal transition through Wnt/beta-catenin signaling and inhibits apoptosis in cholangiocarcinoma. (PMID:34796468)
• The TTYH3/MK5 Positive Feedback Loop regulates Tumor Progression via GSK3-beta/beta-catenin signaling in HCC. (PMID:35844789)
• TTYH3 Modulates Bladder Cancer Proliferation and Metastasis via FGFR1/H-Ras/A-Raf/MEK/ERK Pathway. (PMID:36142409)
• TTYH3 promotes the malignant progression of oral squamous cell carcinoma SCC-9 cells by regulating tumor-associated macrophage polarization. (PMID:38908074)
• TTYH3 Promotes Cervical Cancer Progression by Activating the Wnt/beta-Catenin Signaling Pathway. (PMID:39189652)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	ttyh3b	ENSDARG00000007678
danio_rerio	ttyh3a	ENSDARG00000034473
mus_musculus	Ttyh3	ENSMUSG00000036565
rattus_norvegicus	Ttyh3	ENSRNOG00000055583
drosophila_melanogaster	tty	FBGN0015558
drosophila_melanogaster	CG3638	FBGN0261444
caenorhabditis_elegans		WBGENE00009632

Paralogs (2): TTYH2 (ENSG00000141540), TTYH1 (ENSG00000167614)

Protein

Protein identifiers

Protein tweety homolog 3 — Q9C0H2 (reviewed: Q9C0H2)

Alternative names: Volume-regulated anion channel subunit TTYH3

All UniProt accessions (3): A8MXJ9, Q9C0H2, H7C3T6

UniProt curated annotations — full annotation on UniProt →

Function. Calcium-independent, swelling-dependent volume-regulated anion channel (VRAC-swell) which plays a pivotal role in the process of regulatory volume decrease (RVD) in the brain through the efflux of anions like chloride and organic osmolytes like glutamate. Probable large-conductance Ca(2+)-activated chloride channel.

Subunit / interactions. Homotetramer; disulfide-linked. Homodimer. Interacts with NEDD4L.

Subcellular location. Cell membrane.

Tissue specificity. Expressed in excitable tissues. Expressed in the brain, heart, skeletal muscle, colon, spleen, kidney and peripheral blood leukocytes.

Post-translational modifications. Ubiquitinated by NEDD4L. N-Glycosylated. Contains high-mannose, hybrid and complex oligosaccharides.

Similarity. Belongs to the tweety family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q9C0H2-1	1	yes
Q9C0H2-2	2
Q9C0H2-3	3
Q9C0H2-4	4

RefSeq proteins (1): NP_079526* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006990	Tweety	Family

Pfam: PF04906

Catalyzed reactions (Rhea), 2 shown:

• chloride(in) = chloride(out) (RHEA:29823)
• L-glutamate(out) = L-glutamate(in) (RHEA:66336)

UniProt features (52 total): helix 13, topological domain 6, mutagenesis site 6, transmembrane region 5, modified residue 3, glycosylation site 3, splice variant 3, sequence conflict 3, region of interest 2, binding site 2, disulfide bond 2, chain 1, short sequence motif 1, compositionally biased region 1, site 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
9QNR	ELECTRON MICROSCOPY	2.91
7P5C	ELECTRON MICROSCOPY	3.2

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9C0H2-F1	79.69	0.61

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (1): 161 (essential for the formation of the channel-pore)

Ligand- & substrate-binding residues (2): 110; 113

Post-translational modifications (3): 496, 504, 522

Disulfide bonds (2): 271–381, 299–366

Glycosylation sites (3): 126, 144, 351

Mutagenesis-validated functional residues (6):

Position	Phenotype
128	does not affect n-glycosylation state.
146	does not affect n-glycosylation state.
351	loss of n-glycosylation.
353	abolishes n-glycosylation.
367	induces a stronger permeability to cations.
370	shows a different ion selectivity.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-2672351	Stimuli-sensing channels

MSigDB gene sets: 196 (showing top): GGGACCA_MIR133A_MIR133B, GOBP_INORGANIC_ANION_TRANSPORT, GOBP_AMINO_ACID_TRANSMEMBRANE_TRANSPORT, CTATGCA_MIR153, chr7p22, GOBP_ORGANIC_ACID_TRANSPORT, PATIL_LIVER_CANCER, GOBP_CHLORIDE_TRANSPORT, MARTIN_NFKB_TARGETS_UP, MARTIN_VIRAL_GPCR_SIGNALING_UP, GOBP_AMINO_ACID_TRANSPORT, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_DN, GOBP_ORGANIC_ANION_TRANSPORT, GOBP_DICARBOXYLIC_ACID_TRANSPORT, GOBP_ACIDIC_AMINO_ACID_TRANSPORT

GO Biological Process (5): chloride transport (GO:0006821), L-glutamate transmembrane transport (GO:0015813), monoatomic ion transmembrane transport (GO:0034220), monoatomic ion transport (GO:0006811), chloride transmembrane transport (GO:1902476)

GO Molecular Function (6): intracellularly calcium-gated chloride channel activity (GO:0005229), chloride channel activity (GO:0005254), calcium ion binding (GO:0005509), volume-sensitive chloride channel activity (GO:0072320), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (4): plasma membrane (GO:0005886), chloride channel complex (GO:0034707), extracellular exosome (GO:0070062), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Ion channel transport	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
chloride channel activity	2
monoatomic anion transport	1
inorganic anion transport	1
L-glutamate import	1
L-alpha-amino acid transmembrane transport	1
monoatomic ion transport	1
transmembrane transport	1
transport	1
chloride transport	1
monoatomic anion transmembrane transport	1
ligand-gated monoatomic anion channel activity	1
intracellularly calcium-gated channel activity	1
monoatomic anion channel activity	1
chloride transmembrane transporter activity	1
metal ion binding	1
volume-sensitive anion channel activity	1
binding	1
cation binding	1
membrane	1
cell periphery	1
monoatomic ion channel complex	1
extracellular vesicle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

612 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TTYH3	LRRC8C	Q8TDW0	625
TTYH3	LRRC8E	Q6NSJ5	604
TTYH3	TMEM145	Q8NBT3	518
TTYH3	LRRC8A	Q8IWT6	505
TTYH3	LRRC8B	Q6P9F7	503
TTYH3	LRRC8D	Q7L1W4	502
TTYH3	KCP	Q6ZWJ8	472
TTYH3	ZNF467	Q7Z7K2	412
TTYH3	AMZ1	Q400G9	373
TTYH3	TMEM209	Q96SK2	373
TTYH3	MSL1	Q68DK7	349
TTYH3	DTWD2	Q8NBA8	349
TTYH3	ERMP1	Q7Z2K6	345
TTYH3	AGAP3	Q96P47	331
TTYH3	BRAT1	Q6PJG6	325

IntAct

85 interactions, top by confidence:

A	B	Type	Score
CD27	TCAF2	psi-mi:“MI:0914”(association)	0.640
RETREG3	PLSCR1	psi-mi:“MI:0914”(association)	0.640
SLC16A3	CASK	psi-mi:“MI:0914”(association)	0.590
TTYH3	rep	psi-mi:“MI:0915”(physical association)	0.550
CD70	METTL15	psi-mi:“MI:0914”(association)	0.530
GPR141	STXBP3	psi-mi:“MI:0914”(association)	0.530
CD226	MEN1	psi-mi:“MI:0914”(association)	0.530
CLGN	NPC1	psi-mi:“MI:0914”(association)	0.530
TMEM171	THAP12	psi-mi:“MI:0914”(association)	0.530
PTGIR	TMEM63A	psi-mi:“MI:0914”(association)	0.530
ASGR2	MT-CO1	psi-mi:“MI:0914”(association)	0.530
DHRS9	MFSD4B	psi-mi:“MI:0914”(association)	0.530
CCR6	PODXL	psi-mi:“MI:0914”(association)	0.530
KIAA2013	ATP6AP2	psi-mi:“MI:0914”(association)	0.530
SLC15A4	PGRMC1	psi-mi:“MI:0914”(association)	0.530
YAP1	TTYH3	psi-mi:“MI:0407”(direct interaction)	0.440
ITCH	TTYH3	psi-mi:“MI:0407”(direct interaction)	0.440
NEDD4	TTYH3	psi-mi:“MI:0407”(direct interaction)	0.440
TTYH3	TTYH3	psi-mi:“MI:0407”(direct interaction)	0.360
rep	GPR89A	psi-mi:“MI:0914”(association)	0.350
HCN1	POTEF	psi-mi:“MI:0914”(association)	0.350
GPR17	TMEM120B	psi-mi:“MI:0914”(association)	0.350
HCST	TMEM120B	psi-mi:“MI:0914”(association)	0.350
HIDE1	TMEM120B	psi-mi:“MI:0914”(association)	0.350
KRTCAP3	SLC22A23	psi-mi:“MI:0914”(association)	0.350
EFNA4	NBAS	psi-mi:“MI:0914”(association)	0.350
DGCR2	CCDC85C	psi-mi:“MI:0914”(association)	0.350

BioGRID (115): TTYH3 (Affinity Capture-MS), TTYH3 (Affinity Capture-MS), TTYH3 (Affinity Capture-MS), TTYH3 (Affinity Capture-MS), TTYH3 (Affinity Capture-MS), TTYH3 (Affinity Capture-MS), TTYH3 (Affinity Capture-MS), TTYH3 (Affinity Capture-MS), TTYH3 (Affinity Capture-MS), TTYH3 (Affinity Capture-MS), TTYH3 (Affinity Capture-MS), TTYH3 (Affinity Capture-MS), TTYH3 (Affinity Capture-MS), TTYH3 (Affinity Capture-MS), TTYH3 (Affinity Capture-MS)

ESM2 similar proteins: A0PJX8, A4IFG4, A5D7M7, A6NKF7, A7MBM2, E9PY61, J3QMI4, L5KLU7, O70491, Q03395, Q08E36, Q0V8E7, Q0VD38, Q1KZG0, Q2KJ98, Q3SWY4, Q3TYP4, Q49LS1, Q4QR83, Q53RY4, Q5GH56, Q5GH64, Q5GH72, Q5R7B4, Q5T1A1, Q5XK03, Q66K66, Q674R7, Q6EBV9, Q6GQT5, Q6P5W5, Q6PEY1, Q6PRD1, Q80WF4, Q80ZU9, Q86XJ0, Q8BG75, Q8K177, Q8N144, Q8N4L1

Diamond homologs: P0C5X8, Q0V9V9, Q2KJ98, Q32LT7, Q3TH73, Q6AX57, Q6GM04, Q6GPA5, Q6NUZ2, Q6P1U2, Q6P5F7, Q7ZWN9, Q9BSA4, Q9C0H2, Q9D3A9, Q9H313, Q9MZZ8

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
NEDD4L	“down-regulates quantity by destabilization”	TTYH3	polyubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 127 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
Class A/1 (Rhodopsin-like receptors)	8	7.3×	3e-03
GPCR ligand binding	9	7.1×	2e-03
Signaling by GPCR	10	5.0×	5e-03
G alpha (i) signalling events	10	4.8×	5e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	91
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

3074 predictions. Top by Δscore:

Variant	Effect	Δscore
7:2647021:AG:A	donor_loss	1.0000
7:2647022:GG:G	donor_loss	1.0000
7:2647023:GTG:G	donor_loss	1.0000
7:2647024:T:A	donor_loss	1.0000
7:2647637:AG:A	donor_loss	1.0000
7:2647638:GGTG:G	donor_loss	1.0000
7:2647639:G:C	donor_loss	1.0000
7:2648050:GTGGG:G	donor_gain	1.0000
7:2649565:AG:A	acceptor_gain	1.0000
7:2649566:GG:G	acceptor_gain	1.0000
7:2649901:C:CA	acceptor_gain	1.0000
7:2649901:C:G	acceptor_gain	1.0000
7:2649985:GGGG:G	donor_gain	1.0000
7:2649986:GGG:G	donor_gain	1.0000
7:2649986:GGGG:G	donor_gain	1.0000
7:2649987:GG:G	donor_gain	1.0000
7:2649987:GGG:G	donor_gain	1.0000
7:2649988:GG:G	donor_gain	1.0000
7:2652910:T:TA	acceptor_gain	1.0000
7:2653008:AAGGT:A	donor_loss	1.0000
7:2653010:GGTG:G	donor_loss	1.0000
7:2653011:G:T	donor_loss	1.0000
7:2653012:T:A	donor_loss	1.0000
7:2656088:CCAG:C	acceptor_loss	1.0000
7:2656090:AGGAC:A	acceptor_loss	1.0000
7:2656091:G:GC	acceptor_loss	1.0000
7:2656183:TGGTG:T	donor_loss	1.0000
7:2656185:G:C	donor_loss	1.0000
7:2656361:T:TA	acceptor_gain	1.0000
7:2656367:T:TA	acceptor_gain	1.0000

AlphaMissense

3377 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:2647021:A:C	S98R	0.999
7:2647142:C:A	S98R	0.999
7:2647142:C:G	S98R	0.999
7:2656443:G:C	G387R	0.999
7:2647010:C:A	T94K	0.998
7:2647153:C:A	A102E	0.998
7:2647158:G:A	G104R	0.998
7:2647158:G:C	G104R	0.998
7:2647159:G:A	G104E	0.998
7:2647168:G:A	G107D	0.998
7:2647172:C:A	N108K	0.998
7:2647172:C:G	N108K	0.998
7:2648002:T:C	C224R	0.998
7:2656141:T:C	L357P	0.998
7:2656150:T:C	L360P	0.998
7:2656169:C:G	C366W	0.998
7:2656426:G:A	C381Y	0.998
7:2656427:C:G	C381W	0.998
7:2656443:G:T	G387C	0.998
7:2656491:A:C	S403R	0.998
7:2656493:C:A	S403R	0.998
7:2656493:C:G	S403R	0.998
7:2646991:T:A	W88R	0.997
7:2646991:T:C	W88R	0.997
7:2647146:G:C	G100R	0.997
7:2647638:G:T	R209M	0.997
7:2648020:G:C	G230R	0.997
7:2649604:T:A	W254R	0.997
7:2649604:T:C	W254R	0.997
7:2649929:G:A	C271Y	0.997

dbSNP variants (sampled 300 via entrez): RS1000023069 (7:2642473 T>C,G), RS1000028901 (7:2652515 G>C,T), RS1000038773 (7:2652627 C>T), RS1000039795 (7:2638949 G>A), RS1000134261 (7:2639205 C>G), RS1000220053 (7:2657040 G>A,T), RS1000252818 (7:2635000 G>A), RS1000275121 (7:2663890 C>G), RS1000275926 (7:2632377 C>G,T), RS1000463207 (7:2642306 C>A), RS1000475830 (7:2639842 G>A,T), RS1000604072 (7:2665152 G>A), RS1000621904 (7:2640499 A>G), RS1000676412 (7:2665279 G>A,C), RS1000726128 (7:2636203 G>A)

Disease associations

OMIM: gene MIM:608919 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST001728_9	Ulcerative colitis	6.000000e-17
GCST003518_48	Daytime sleep phenotypes	5.000000e-06
GCST012481_3	Cerebral amyloid angiopathy in Alzheimer’s disease	8.000000e-06
GCST90002401_448	Platelet distribution width	2.000000e-15

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0007828	daytime rest measurement
EFO:0007984	platelet component distribution width

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Tetrachlorodibenzodioxin	increases expression, affects expression	3
Cyclosporine	decreases expression	3
sodium arsenite	decreases expression, affects cotreatment, increases abundance	2
Arsenic	decreases expression, increases abundance, decreases ubiquitination, affects cotreatment	2
Tobacco Smoke Pollution	affects expression, increases expression	2
Valproic Acid	affects expression, increases methylation	2
aristolochic acid I	decreases expression	1
FR900359	increases phosphorylation	1
dicrotophos	increases expression	1
bisphenol A	affects expression	1
sodium arsenate	decreases expression	1
cobaltous chloride	decreases expression	1
2-bromopalmitate	increases palmitoylation, decreases reaction, increases abundance	1
perfluorooctanoic acid	decreases expression	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
nickel sulfate	increases 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, increases expression	1
bisphenol B	increases expression	1
abrine	decreases expression	1
bisphenol S	decreases methylation	1
jinfukang	affects cotreatment, increases expression	1
LDN 193189	affects cotreatment, increases expression	1
(+)-JQ1 compound	decreases expression	1
Temozolomide	increases expression	1
Sunitinib	increases expression	1
Ampicillin	increases expression	1
Vehicle Emissions	increases methylation	1
Benztropine	affects cotreatment, decreases expression	1

Clinical trials (associated diseases)

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