TRIM46

Summary

TRIM46 (tripartite motif containing 46, HGNC:19019) is a protein-coding gene on chromosome 1q22, encoding Tripartite motif-containing protein 46 (Q7Z4K8). Microtubule-associated protein that is involved in the formation of parallel microtubule bundles linked by cross-bridges in the proximal axon.

This gene encodes a protein of the tripartite motif (TRIM) family. The TRIM motif includes zinc-binding domains, a RING finger region, a B-box motif and a coiled-coil domain. TRIM46 is reported to be involved in the proliferation of multiple types of cancer cells including lung and breast cancer. It has also been shown to control neuronal polarity and axon specification by forming uniform microtubule bundles in the axon.

Source: NCBI Gene 80128 — RefSeq curated summary.

At a glance

• GWAS associations: 30
• Clinical variants (ClinVar): 98 total
• MANE Select transcript: NM_025058

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19019
Approved symbol	TRIM46
Name	tripartite motif containing 46
Location	1q22
Locus type	gene with protein product
Status	Approved
Aliases	FLJ23229, TRIFIC
Ensembl gene	ENSG00000163462
Ensembl biotype	protein_coding
OMIM	600986
Entrez	80128

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 7 protein_coding, 3 protein_coding_CDS_not_defined

ENST00000334634, ENST00000368382, ENST00000368383, ENST00000368385, ENST00000464760, ENST00000468878, ENST00000474430, ENST00000543729, ENST00000545012, ENST00000611379

RefSeq mRNA: 9 — MANE Select: NM_025058 NM_001256599, NM_001256601, NM_001282378, NM_001282379, NM_001406245, NM_001406246, NM_001406247, NM_001406256, NM_025058

CCDS: CCDS1097, CCDS58033, CCDS60285, CCDS72931, CCDS72932

Canonical transcript exons

ENST00000334634 — 10 exons

Exon	Start	End
ENSE00001841725	155173849	155174029
ENSE00003483762	155175888	155176231
ENSE00003555794	155178492	155178613
ENSE00003558428	155181852	155182149
ENSE00003596948	155178002	155178255
ENSE00003626744	155176932	155177075
ENSE00003648834	155175386	155175647
ENSE00003686614	155179632	155179934
ENSE00003687423	155177195	155177290
ENSE00003844155	155183797	155184970

Expression profiles

Bgee: expression breadth ubiquitous, 178 present calls, max score 90.35.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.1180 / max 91.3316, expressed in 1159 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
5580	2.6955	1029
5581	1.4225	636

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cortical plate	UBERON:0005343	90.35	gold quality
right hemisphere of cerebellum	UBERON:0014890	89.80	gold quality
cerebellar hemisphere	UBERON:0002245	89.53	gold quality
cerebellar cortex	UBERON:0002129	89.39	gold quality
endothelial cell	CL:0000115	88.41	gold quality
cerebellum	UBERON:0002037	87.56	gold quality
right frontal lobe	UBERON:0002810	84.15	gold quality
ganglionic eminence	UBERON:0004023	83.29	gold quality
primary visual cortex	UBERON:0002436	82.56	gold quality
prefrontal cortex	UBERON:0000451	82.51	gold quality
nucleus accumbens	UBERON:0001882	81.22	gold quality
anterior cingulate cortex	UBERON:0009835	80.98	gold quality
cingulate cortex	UBERON:0003027	80.86	gold quality
ventricular zone	UBERON:0003053	80.52	gold quality
neocortex	UBERON:0001950	80.42	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	80.27	gold quality
frontal cortex	UBERON:0001870	79.99	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	79.68	gold quality
Brodmann (1909) area 9	UBERON:0013540	79.50	gold quality
caudate nucleus	UBERON:0001873	79.13	gold quality
cerebral cortex	UBERON:0000956	78.78	gold quality
telencephalon	UBERON:0001893	77.92	gold quality
Brodmann (1909) area 23	UBERON:0013554	77.91	gold quality
brain	UBERON:0000955	77.72	gold quality
middle temporal gyrus	UBERON:0002771	77.72	gold quality
occipital lobe	UBERON:0002021	77.48	gold quality
putamen	UBERON:0001874	77.42	gold quality
forebrain	UBERON:0001890	77.22	gold quality
spinal cord	UBERON:0002240	76.97	gold quality
Ammon’s horn	UBERON:0001954	76.13	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.87

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

63 targeting TRIM46, 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-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-4455	100.00	65.48	1587
HSA-MIR-10401-5P	99.99	65.79	948
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-12133	99.92	71.82	2006
HSA-MIR-4648	99.91	67.00	710
HSA-MIR-1271-5P	99.91	71.99	1972
HSA-MIR-7845-5P	99.88	64.88	771
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-4422	99.72	72.07	2908
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-3714	99.71	70.74	2671
HSA-MIR-4527	99.66	67.43	714
HSA-MIR-6503-5P	99.62	66.96	597
HSA-MIR-4516	99.61	67.78	3390
HSA-MIR-6132	99.60	65.83	1554
HSA-MIR-6836-5P	99.60	65.62	1538
HSA-MIR-4310	99.59	68.84	2527
HSA-MIR-3136-3P	99.57	66.59	781
HSA-MIR-7155-3P	99.57	66.48	794
HSA-MIR-1207-5P	99.49	69.11	2983

Literature-anchored findings (GeneRIF, showing 4)

• Axonal TAU Sorting Requires the C-terminus of TAU but is Independent of ANKG and TRIM46 Enrichment at the AIS. (PMID:33556457)
• SNP rs4971059 predisposes to breast carcinogenesis and chemoresistance via TRIM46-mediated HDAC1 degradation. (PMID:34459501)
• TRIM46 activates AKT/HK2 signaling by modifying PHLPP2 ubiquitylation to promote glycolysis and chemoresistance of lung cancer cells. (PMID:35354796)
• TRIM46 upregulates Wnt/beta-catenin signaling by inhibiting Axin1 to mediate hypoxia-induced epithelial-mesenchymal transition in HK2 cells. (PMID:35670901)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	trim46a	ENSDARG00000012367
danio_rerio	trim46b	ENSDARG00000058649
mus_musculus	Trim46	ENSMUSG00000042766
rattus_norvegicus	Trim46	ENSRNOG00000055433

Paralogs (80): MID2 (ENSG00000080561), TRIM9 (ENSG00000100505), MID1 (ENSG00000101871), MEFV (ENSG00000103313), TRIM35 (ENSG00000104228), TRIM14 (ENSG00000106785), TRIM37 (ENSG00000108395), TRIM2 (ENSG00000109654), TRIM3 (ENSG00000110171), TRIM38 (ENSG00000112343), TRIM62 (ENSG00000116525), TRIM67 (ENSG00000119283), TRIM32 (ENSG00000119401), BSPRY (ENSG00000119411), TRIM25 (ENSG00000121060), TRIM6 (ENSG00000121236), TRIM24 (ENSG00000122779), TRIM51 (ENSG00000124900), TRIM28 (ENSG00000130726), TRIM21 (ENSG00000132109), TRIM5 (ENSG00000132256), TRIM22 (ENSG00000132274), TRIM47 (ENSG00000132481), TRIM45 (ENSG00000134253), TRIM29 (ENSG00000137699), TRIM54 (ENSG00000138100), PML (ENSG00000140464), TRIM65 (ENSG00000141569), TRIM43B (ENSG00000144010), TRIM43 (ENSG00000144015), TRIM7 (ENSG00000146054), TRIM41 (ENSG00000146063), TRIM50 (ENSG00000146755), TRIM4 (ENSG00000146833), TRIM55 (ENSG00000147573), TRIM48 (ENSG00000150244), TRIM36 (ENSG00000152503), TRIM11 (ENSG00000154370), TRIM74 (ENSG00000155428), TRIM42 (ENSG00000155890)

Protein

Protein identifiers

Tripartite motif-containing protein 46 — Q7Z4K8 (reviewed: Q7Z4K8)

Alternative names: Gene Y protein, Tripartite, fibronectin type-III and C-terminal SPRY motif protein

All UniProt accessions (4): A0A087WUH1, Q7Z4K8, F5GYK0, Q5VT61

UniProt curated annotations — full annotation on UniProt →

Function. Microtubule-associated protein that is involved in the formation of parallel microtubule bundles linked by cross-bridges in the proximal axon. Required for the uniform orientation and maintenance of the parallel microtubule fascicles, which are important for efficient cargo delivery and trafficking in axons. Thereby also required for proper axon specification, the establishment of neuronal polarity and proper neuronal migration.

Subunit / interactions. Interacts with TUBB3 and TUBA4A.

Subcellular location. Cell projection. Axon. Cytoplasm. Cytoskeleton.

Similarity. Belongs to the TRIM/RBCC family.

Isoforms (5)

UniProt ID	Names	Canonical?
Q7Z4K8-1	1	yes
Q7Z4K8-2	2
Q7Z4K8-3	3
Q7Z4K8-4	4
Q7Z4K8-5	5

RefSeq proteins (9): NP_001243528, NP_001243530, NP_001269307, NP_001269308, NP_001393174, NP_001393175, NP_001393176, NP_001393185, NP_079334* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000315	Znf_B-box	Domain
IPR001841	Znf_RING	Domain
IPR001870	B30.2/SPRY	Domain
IPR003961	FN3_dom	Domain
IPR013083	Znf_RING/FYVE/PHD	Homologous_superfamily
IPR013320	ConA-like_dom_sf	Homologous_superfamily
IPR013783	Ig-like_fold	Homologous_superfamily
IPR017903	COS_domain	Domain
IPR017907	Znf_RING_CS	Conserved_site
IPR027370	Znf-RING_euk	Domain
IPR035731	SPRY/PRY_TRIM46	Domain
IPR036116	FN3_sf	Homologous_superfamily
IPR040859	Midline-1_COS	Domain
IPR043136	B30.2/SPRY_sf	Homologous_superfamily
IPR050617	E3_ligase_FN3/SPRY	Family

Pfam: PF00643, PF13445, PF18568

UniProt features (32 total): splice variant 6, sequence conflict 6, region of interest 4, binding site 4, domain 3, zinc finger region 3, compositionally biased region 2, modified residue 2, chain 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7Z4K8-F1	79.78	0.44

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 (4): 227; 230; 249; 255

Post-translational modifications (2): 330, 627

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-877300	Interferon gamma signaling

MSigDB gene sets: 223 (showing top): GOBP_SYNAPTIC_VESICLE_LOCALIZATION, GOBP_NEGATIVE_REGULATION_OF_CELL_DEVELOPMENT, GOBP_AXO_DENDRITIC_TRANSPORT, GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, TGCGCANK_UNKNOWN, GOBP_NEURON_PROJECTION_EXTENSION, GOBP_VESICLE_LOCALIZATION, GOBP_NEGATIVE_REGULATION_OF_AXON_EXTENSION, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_REGULATION_OF_DEVELOPMENTAL_GROWTH, GCANCTGNY_MYOD_Q6, GOBP_SYNAPTIC_VESICLE_CYTOSKELETAL_TRANSPORT, GOBP_NEGATIVE_REGULATION_OF_CELL_GROWTH, MAZ_Q6, GOBP_GROWTH

GO Biological Process (9): microtubule bundle formation (GO:0001578), neuron migration (GO:0001764), axonogenesis (GO:0007409), negative regulation of axon extension (GO:0030517), regulation of protein localization (GO:0032880), anterograde synaptic vesicle transport (GO:0048490), protein localization to axon (GO:0099612), positive regulation of anterograde dense core granule transport (GO:1901953), microtubule cytoskeleton organization (GO:0000226)

GO Molecular Function (3): zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (8): cytoskeleton (GO:0005856), axon initial segment (GO:0043194), main axon (GO:0044304), axon cytoplasm (GO:1904115), proximal neuron projection (GO:1990769), cytoplasm (GO:0005737), axon (GO:0030424), cell projection (GO:0042995)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Interferon Signaling	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
intracellular protein localization	2
axon	2
neuron projection	2
microtubule cytoskeleton organization	1
cell migration	1
generation of neurons	1
cell morphogenesis involved in neuron differentiation	1
neuron projection morphogenesis	1
axon development	1
negative regulation of cell growth	1
regulation of axon extension	1
negative regulation of developmental growth	1
axon extension	1
negative regulation of axonogenesis	1
regulation of localization	1
anterograde axonal transport	1
synaptic vesicle transport along microtubule	1
positive regulation of vesicle transport along microtubule	1
regulation of anterograde dense core granule transport	1
positive regulation of dense core granule transport	1
anterograde neuronal dense core vesicle transport	1
cytoskeleton organization	1
microtubule-based process	1
transition metal ion binding	1
binding	1
cation binding	1
intracellular membraneless organelle	1
main axon	1
neuron projection cytoplasm	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

846 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TRIM46	MTX1	Q13505	907
TRIM46	THBS3	P49746	904
TRIM46	MUC1	P13931	818
TRIM46	GBA1	P04062	738
TRIM46	KRTCAP2	Q8N6L1	707
TRIM46	CAMSAP2	Q08AD1	616
TRIM46	BBOX1	O75936	614
TRIM46	TMEM171	Q8WVE6	575
TRIM46	B3GNT4	Q9C0J1	541
TRIM46	NDEL1	Q9GZM8	516
TRIM46	A1CF	Q9NQ94	513
TRIM46	MAP7D2	Q96T17	505
TRIM46	AK5	Q9Y6K8	500
TRIM46	MAPRE3	Q9UPY8	485
TRIM46	UBE2Q2	Q8WVN8	480
TRIM46	TRAT1	Q6PIZ9	480

IntAct

16 interactions, top by confidence:

A	B	Type	Score
Dlg4	TRIM46	psi-mi:“MI:0407”(direct interaction)	0.440
TRIM46	TSG101	psi-mi:“MI:0915”(physical association)	0.370
TRIM46	UBE2Z	psi-mi:“MI:0915”(physical association)	0.370
TRIM46	UBE2U	psi-mi:“MI:0915”(physical association)	0.370
TRIM46	TRIM9	psi-mi:“MI:0915”(physical association)	0.370
TRIM46	BRCA1	psi-mi:“MI:0915”(physical association)	0.370
MDM4	TRIM46	psi-mi:“MI:0915”(physical association)	0.370
TRIM46	RNF7	psi-mi:“MI:0915”(physical association)	0.370
TRIM46	CBLC	psi-mi:“MI:0915”(physical association)	0.370
RNF125	TRIM46	psi-mi:“MI:0915”(physical association)	0.370
TK1	TRIM46	psi-mi:“MI:0915”(physical association)	0.370
DYRK1A	TEX13D	psi-mi:“MI:0914”(association)	0.350
	NFIB	psi-mi:“MI:0914”(association)	0.350
MTNR1B	TRIM46	psi-mi:“MI:0915”(physical association)	0.000
TRIM46	AK5	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (40): TRIM46 (Affinity Capture-MS), TRIM46 (Reconstituted Complex), TRIM46 (Two-hybrid), TRIM46 (Reconstituted Complex), TRIM46 (Affinity Capture-MS), TRIM46 (Affinity Capture-RNA), AK5 (Two-hybrid), DUSP1 (Affinity Capture-Western), TRIM46 (Affinity Capture-Western), TRIM46 (Affinity Capture-Western), PHLPP2 (Affinity Capture-Western), TRIM46 (Affinity Capture-Western), NFKBIA (Affinity Capture-Western), TRIM46 (Affinity Capture-Western), TBK1 (Affinity Capture-Western)

ESM2 similar proteins: A0A0B4J1F4, A0A0G2JXN2, A2AWP8, A2RRH5, C9J798, O43374, O70277, O95294, P04629, P59926, Q0GA42, Q13368, Q14318, Q16512, Q29RM4, Q2HY40, Q2T9P3, Q2TBA3, Q5BIM1, Q5M7W1, Q5R5M3, Q5R811, Q5T7P8, Q5XIS9, Q62746, Q6PFQ7, Q6PFY8, Q7TNM2, Q7TP90, Q7Z4K8, Q8BG60, Q8BHT7, Q8BQC3, Q8C6N3, Q8CIW5, Q8IZ69, Q8NCT1, Q920N2, Q92546, Q925B4

Diamond homologs: A0A0G2JXN2, Q1XHU0, Q7TNM2, Q7Z4K8, Q80WG7, Q9HCM9, Q9NQ86, A0JPQ4, A6QQX5, Q1ACD6, Q1XH17, Q1XH18, Q5D7I9, Q5R846, Q640S6, Q6PGR9, Q6QA27, Q6ZMU5, Q8IWR1, Q922Y2, Q96DX7, Q9C029, Q9QUS6, Q9QXA7, Q9UJV3, A0JN74, A5D7F8, A5D8S5, A6NGJ6, A6NI03, B6VQ60, E1BD59, F6ZQ54, G3X8Y1, O60858, P15533, P86449, Q03601, Q1ACD7, Q28E95

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
Ub:E2	“up-regulates activity”	TRIM46	ubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 16 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
protein ubiquitination	6	17.8×	8e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	81
Likely benign	5
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1739 predictions. Top by Δscore:

Variant	Effect	Δscore
1:155174028:GT:G	donor_gain	1.0000
1:155174030:G:GG	donor_gain	1.0000
1:155174035:T:G	donor_gain	1.0000
1:155175384:A:AG	acceptor_gain	1.0000
1:155175385:G:GG	acceptor_gain	1.0000
1:155175385:GACCA:G	acceptor_gain	1.0000
1:155176229:AAGG:A	donor_loss	1.0000
1:155176232:G:GA	donor_loss	1.0000
1:155176921:T:TA	acceptor_gain	1.0000
1:155176923:T:TA	acceptor_gain	1.0000
1:155176926:CCCTA:C	acceptor_gain	1.0000
1:155176927:CCTA:C	acceptor_loss	1.0000
1:155176927:CCTAG:C	acceptor_gain	1.0000
1:155176928:CTA:C	acceptor_loss	1.0000
1:155176928:CTAGG:C	acceptor_gain	1.0000
1:155176929:TAG:T	acceptor_gain	1.0000
1:155176930:A:AG	acceptor_gain	1.0000
1:155176930:AG:A	acceptor_gain	1.0000
1:155176930:AGG:A	acceptor_gain	1.0000
1:155176930:AGGGC:A	acceptor_gain	1.0000
1:155176931:G:A	acceptor_gain	1.0000
1:155176931:G:GA	acceptor_gain	1.0000
1:155176931:GGG:G	acceptor_gain	1.0000
1:155176931:GGGC:G	acceptor_gain	1.0000
1:155176931:GGGCC:G	acceptor_gain	1.0000
1:155177072:CAAGG:C	donor_loss	1.0000
1:155177073:AAGG:A	donor_loss	1.0000
1:155177074:AG:A	donor_gain	1.0000
1:155177075:GG:G	donor_gain	1.0000
1:155177076:G:GG	donor_gain	1.0000

AlphaMissense

4883 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:155175419:T:C	C33R	1.000
1:155175479:T:C	C53R	1.000
1:155175950:T:C	C130R	1.000
1:155176076:T:C	C172R	1.000
1:155176118:T:C	C186R	1.000
1:155176142:T:C	C194R	1.000
1:155176143:G:A	C194Y	1.000
1:155176144:C:G	C194W	1.000
1:155176166:C:G	H202D	1.000
1:155176941:T:C	C227R	1.000
1:155176974:T:C	C238R	1.000
1:155176975:G:A	C238Y	1.000
1:155176976:C:G	C238W	1.000
1:155176998:T:C	C246R	1.000
1:155179644:C:A	P433H	1.000
1:155179694:T:A	W450R	1.000
1:155179694:T:C	W450R	1.000
1:155179860:G:C	R505P	1.000
1:155179863:T:A	V506D	1.000
1:155182043:T:A	W594R	1.000
1:155182043:T:C	W594R	1.000
1:155182077:T:A	V605D	1.000
1:155184087:C:A	P726H	1.000
1:155175414:T:C	L31P	0.999
1:155175419:T:A	C33S	0.999
1:155175420:G:A	C33Y	0.999
1:155175420:G:C	C33S	0.999
1:155175421:C:G	C33W	0.999
1:155175428:T:C	C36R	0.999
1:155175450:C:A	P43Q	0.999

dbSNP variants (sampled 300 via entrez): RS1000388388 (1:155174402 G>A,T), RS1000453944 (1:155181113 G>A), RS1000567890 (1:155179869 G>A), RS1000594297 (1:155174474 C>G), RS1000687791 (1:155173146 G>A,T), RS1000775148 (1:155180777 G>A), RS1001235731 (1:155185163 T>C), RS1001577285 (1:155181764 C>T), RS1001596146 (1:155172988 C>A,T), RS1001901116 (1:155180504 A>C), RS1001912581 (1:155180321 G>A), RS1002181411 (1:155179633 G>A), RS1002542742 (1:155173437 C>G,T), RS1002571456 (1:155176662 T>A), RS1002573608 (1:155183351 G>A,C)

Disease associations

OMIM: gene MIM:600986 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

30 associations (top):

Study	Trait	p-value
GCST001791_35	Urate levels	6.000000e-19
GCST003254_5	Urinary albumin-to-creatinine ratio in non-diabetics	9.000000e-06
GCST004131_70	Inflammatory bowel disease	6.000000e-08
GCST004132_44	Crohn’s disease	2.000000e-07
GCST004988_652	Breast cancer	5.000000e-11
GCST007294_124	Body fat distribution (trunk fat ratio)	8.000000e-35
GCST007294_3	Body fat distribution (trunk fat ratio)	6.000000e-21
GCST007294_50	Body fat distribution (trunk fat ratio)	1.000000e-15
GCST007295_17	Body fat distribution (leg fat ratio)	3.000000e-13
GCST007295_37	Body fat distribution (leg fat ratio)	7.000000e-17
GCST007295_72	Body fat distribution (leg fat ratio)	1.000000e-28
GCST007725_42	Serum uric acid levels	8.000000e-18
GCST007733_40	Serum uric acid levels	8.000000e-19
GCST007733_44	Serum uric acid levels	5.000000e-16
GCST008058_121	Estimated glomerular filtration rate	9.000000e-17
GCST008060_13	Estimated glomerular filtration rate	2.000000e-07
GCST008790_3	Urinary albumin-to-creatinine ratio	4.000000e-17
GCST008791_12	Microalbuminuria	2.000000e-06
GCST008971_74	Urate levels	4.000000e-41
GCST008972_148	Urate levels	2.000000e-60
GCST010637_2	Urate levels	4.000000e-18
GCST010696_19	Cortical thickness (min-P)	2.000000e-10
GCST010697_10	Cortical surface area (min-P)	3.000000e-10
GCST010698_59	Subcortical volume (min-P)	9.000000e-10
GCST010699_20	Brain morphology (min-P)	7.000000e-10
GCST010700_5	Cortical thickness (MOSTest)	8.000000e-17
GCST010701_66	Cortical surface area (MOSTest)	1.000000e-09
GCST010702_43	Subcortical volume (MOSTest)	3.000000e-10
GCST010703_253	Brain morphology (MOSTest)	4.000000e-14
GCST011456_1	Serum CC16 levels	2.000000e-11

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:0004531	urate measurement
EFO:0007778	urinary albumin to creatinine ratio
EFO:0004341	body fat distribution
EFO:0004761	uric acid measurement
EFO:0004346	neuroimaging measurement
EFO:0004840	cortical thickness
EFO:0005080	CC16 measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	increases expression	1
afuresertib	decreases expression	1
propionaldehyde	increases expression	1
potassium chromate(VI)	affects cotreatment, increases expression	1
beta-methylcholine	affects expression	1
epigallocatechin gallate	affects cotreatment, increases expression	1
di-n-butylphosphoric acid	affects expression	1
abrine	decreases expression	1
(+)-JQ1 compound	decreases expression	1
Acetaminophen	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Atrazine	increases expression	1
Benzo(a)pyrene	affects methylation	1
Hydralazine	affects cotreatment, increases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	affects expression	1
Triiodothyronine	increases expression	1
Uric Acid	affects abundance	1
Valproic Acid	affects cotreatment, increases expression	1
Antirheumatic Agents	decreases expression	1
Cadmium Chloride	decreases expression	1
Okadaic Acid	decreases expression	1
Particulate Matter	decreases expression, increases abundance	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_TU29	HAP1 TRIM46 (-)	Cancer cell line	Male

Clinical trials (associated diseases)

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