TARBP1

Summary

TARBP1 (tRNA guanosine 2 -O-methyltransferase TARBP1, HGNC:11568) is a protein-coding gene on chromosome 1q42.2, encoding tRNA (guanosine(18)-2’-O)-methyltransferase TARBP1 (Q13395). S-adenosyl-L-methionine-dependent 2’-O-ribose methyltransferase that catalyzes the formation of 2’-O-methylguanosine at position 18 (Gm18) in a subset of tRNA.

HIV-1, the causative agent of acquired immunodeficiency syndrome (AIDS), contains an RNA genome that produces a chromosomally integrated DNA during the replicative cycle. Activation of HIV-1 gene expression by the transactivator Tat is dependent on an RNA regulatory element (TAR) located downstream of the transcription initiation site. This element forms a stable stem-loop structure and can be bound by either the protein encoded by this gene or by RNA polymerase II. This protein may act to disengage RNA polymerase II from TAR during transcriptional elongation. Alternatively spliced transcripts of this gene may exist, but their full-length natures have not been determined.

Source: NCBI Gene 6894 — RefSeq curated summary.

At a glance

• GWAS associations: 8
• Clinical variants (ClinVar): 270 total
• Druggable target: yes
• MANE Select transcript: NM_005646

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11568
Approved symbol	TARBP1
Name	tRNA guanosine 2 -O-methyltransferase TARBP1
Location	1q42.2
Locus type	gene with protein product
Status	Approved
Aliases	TRP-185, TRM3, TRMT3
Ensembl gene	ENSG00000059588
Ensembl biotype	protein_coding
OMIM	605052
Entrez	6894

Gene structure

Transcript identifiers

Ensembl transcripts: 20 — 12 protein_coding, 8 protein_coding_CDS_not_defined

ENST00000040877, ENST00000462259, ENST00000463793, ENST00000468077, ENST00000471918, ENST00000481183, ENST00000483404, ENST00000484454, ENST00000496673, ENST00000870825, ENST00000870826, ENST00000919732, ENST00000919733, ENST00000919734, ENST00000919735, ENST00000943775, ENST00000943776, ENST00000943777, ENST00000943778, ENST00000943779

RefSeq mRNA: 1 — MANE Select: NM_005646 NM_005646

CCDS: CCDS1601

Canonical transcript exons

ENST00000040877 — 30 exons

Exon	Start	End
ENSE00000921441	234420702	234420812
ENSE00000921442	234425673	234425793
ENSE00000921443	234427317	234427388
ENSE00000921444	234427576	234427766
ENSE00000921445	234429136	234429324
ENSE00000921446	234429416	234429677
ENSE00000921447	234430087	234430301
ENSE00000921448	234433410	234433571
ENSE00000921449	234437275	234437372
ENSE00000921450	234446803	234446975
ENSE00000921451	234448480	234448579
ENSE00000921452	234450428	234450566
ENSE00000921453	234457667	234457756
ENSE00000921454	234459230	234459326
ENSE00000921455	234460261	234460396
ENSE00000921456	234463837	234463934
ENSE00000921457	234465656	234465708
ENSE00001030894	234467502	234467650
ENSE00001030905	234472714	234472811
ENSE00001030907	234471188	234471257
ENSE00001121658	234478173	234479179
ENSE00001178477	234391313	234391745
ENSE00003461430	234393362	234393486
ENSE00003468062	234418084	234418233
ENSE00003510815	234398382	234398553
ENSE00003512284	234410445	234410531
ENSE00003541803	234392416	234392552
ENSE00003664887	234401181	234401262
ENSE00003666063	234405903	234406099
ENSE00003693637	234393646	234393837

Expression profiles

Bgee: expression breadth ubiquitous, 290 present calls, max score 97.88.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.9613 / max 472.1024, expressed in 1736 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
18038	6.8395	1653
18036	1.3366	701
18037	1.1023	647
18035	0.6830	357

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right hemisphere of cerebellum	UBERON:0014890	97.88	gold quality
right uterine tube	UBERON:0001302	97.76	gold quality
cerebellar hemisphere	UBERON:0002245	97.73	gold quality
cerebellar cortex	UBERON:0002129	97.70	gold quality
cerebellum	UBERON:0002037	96.61	gold quality
right frontal lobe	UBERON:0002810	96.48	gold quality
Brodmann (1909) area 9	UBERON:0013540	95.62	gold quality
nucleus accumbens	UBERON:0001882	94.90	gold quality
rectum	UBERON:0001052	94.19	gold quality
pituitary gland	UBERON:0000007	94.02	gold quality
adenohypophysis	UBERON:0002196	93.96	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	93.81	gold quality
caudate nucleus	UBERON:0001873	93.63	gold quality
body of pancreas	UBERON:0001150	93.42	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	93.41	gold quality
tibial nerve	UBERON:0001323	93.25	gold quality
lymph node	UBERON:0000029	93.18	gold quality
putamen	UBERON:0001874	93.17	gold quality
middle temporal gyrus	UBERON:0002771	93.15	gold quality
cingulate cortex	UBERON:0003027	93.14	gold quality
anterior cingulate cortex	UBERON:0009835	93.05	gold quality
minor salivary gland	UBERON:0001830	92.99	gold quality
skin of abdomen	UBERON:0001416	92.64	gold quality
skin of leg	UBERON:0001511	92.51	gold quality
spleen	UBERON:0002106	92.36	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	92.34	gold quality
amygdala	UBERON:0001876	92.32	gold quality
hypothalamus	UBERON:0001898	92.17	gold quality
mouth mucosa	UBERON:0003729	92.04	gold quality
left lobe of thyroid gland	UBERON:0001120	92.03	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	8.91
E-HCAD-10	yes	6.62
E-GEOD-137537	yes	6.54

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

35 targeting TARBP1, 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-4668-3P	100.00	68.74	2635
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-12133	99.92	71.82	2006
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-1271-5P	99.91	71.99	1972
HSA-MIR-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-16-5P	99.90	72.80	2780
HSA-MIR-195-5P	99.90	72.81	2805
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-6838-5P	99.89	71.94	2690
HSA-MIR-424-5P	99.89	71.90	2641
HSA-MIR-182-5P	99.87	74.03	2589
HSA-MIR-548AZ-5P	99.83	69.94	3230
HSA-MIR-548T-5P	99.83	69.91	3220
HSA-MIR-7856-5P	99.75	69.99	2901
HSA-MIR-3714	99.71	70.74	2671
HSA-MIR-4470	99.66	69.35	1767
HSA-MIR-513A-3P	99.39	70.63	3620
HSA-MIR-513C-3P	99.39	70.63	3620
HSA-MIR-5582-5P	99.27	71.42	1879
HSA-MIR-4477B	99.23	70.49	1733
HSA-MIR-3606-3P	99.11	69.84	3254
HSA-MIR-302F	98.44	69.02	1776

Literature-anchored findings (GeneRIF, showing 7)

• induces induction of HIV-1 long terminal repeat by human and murine cyclin T1 and requires Sp1. (PMID:12458222)
• The crystal structure of methyltransferase domain of human TARBP1 protein in complex with S-adenosyl-L-homocysteine (AdoHcy) at 1.6-A resolution, is reported. (PMID:18412263)
• Binding of Dicer to TRBPs is critical for RNAi function. (PMID:19422693)
• DGCR8, AGO1, AGO2, PACT, and TARBP1 expression levels were significantly higher in the epithelial skin cancer groups than the healthy controls (P > 0.05). (PMID:22025453)
• TARBP1 is positively regulated by MIR10A and MIR21 which are upregulated in heavy drinkers following psychological stress. (PMID:25421511)
• TARBP1 is up-regulated in hepatocellular carcinoma, and the expression of TARBP1 was associated with the pathological grading and clinical stage. (PMID:26464651)
• DNA methylation associated with persistent ADHD suggests TARBP1 as novel candidate. (PMID:33137342)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	tarbp1	ENSDARG00000079055
danio_rerio		ENSDARG00000092550
mus_musculus	Tarbp1	ENSMUSG00000090290
rattus_norvegicus	Tarbp1	ENSRNOG00000053574

Paralogs (2): MRM3 (ENSG00000171861), MRM1 (ENSG00000278619)

Protein

Protein identifiers

tRNA (guanosine(18)-2’-O)-methyltransferase TARBP1 — Q13395 (reviewed: Q13395)

Alternative names: TAR RNA-binding protein 1, TAR RNA-binding protein of 185 kDa

All UniProt accessions (1): Q13395

UniProt curated annotations — full annotation on UniProt →

Function. S-adenosyl-L-methionine-dependent 2’-O-ribose methyltransferase that catalyzes the formation of 2’-O-methylguanosine at position 18 (Gm18) in a subset of tRNA. Selectively mediates Gm18 methylation of tRNAGln-TTG/CTG and tRNASer-TGA/GCT. Gm18 modification can enhance the stability of modified tRNAs. (Microbial infection) In case of infection by HIV-1, it binds to the loop region of TAR RNA, a region also bound by RNA polymerase II. Binding of TARBP1 and RNA polymerase II to HIV-1 TAR RNA is mutually exclusive, suggesting that TARBP1 may function alone or in conjunction with HIV-1 Tat to disengage RNA polymerase II from HIV-1 TAR RNA.

Subunit / interactions. Monomer and homodimer.

Similarity. Belongs to the class IV-like SAM-binding methyltransferase superfamily. RNA methyltransferase TrmH family.

RefSeq proteins (1): NP_005637* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001537	SpoU_MeTrfase	Domain
IPR016024	ARM-type_fold	Homologous_superfamily
IPR025806	TARBP1	Family
IPR029026	tRNA_m1G_MTases_N	Homologous_superfamily
IPR029028	Alpha/beta_knot_MTases	Homologous_superfamily
IPR044748	Trm3/TARBP1_C	Domain
IPR045330	TRM3/TARBP1	Family
IPR056921	TARBP1_dom	Domain

Pfam: PF00588, PF25050

Enzyme classification (BRENDA):

• EC 2.1.1.34 — tRNA (guanosine18-2’-O)-methyltransferase (BRENDA: 9 organisms, 44 substrates, 4 inhibitors, 66 Km, 0 kcat entries)

Substrate kinetics (BRENDA)

14 substrates with measured Km, best-characterized 14. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
S-ADENOSYL-L-METHIONINE	0.0005–28	33
GUANOSINE18 IN TRNATYR	0.021–0.27	11
GUANOSINE18 IN YEAST TRNAPHE	0.0001–0.0013	8
GUANOSINE18 IN YEAST TRNA-PHE	—	2
ESCHERICHIA COLI TRNA-ILE	—	1
GUANOSINE18 IN ESCHERICHIA COLI TRNA-MET	—	1
GUANOSINE18 IN ESCHERICHIA COLI TRNA-PHE	—	1
GUANOSINE18 IN ESCHERICHIA COLI TRNASER/CGA	0.09	1
GUANOSINE18 IN YEAST TRNAPHE MUTANT TRANSCRIPT	0.0001	1
GUANOSINE18 IN YEAST TRNAPHE-AGA MUTANT TRANSCRI	0.0125	1
GUANOSINE18 IN YEAST TRNAPHE-DG18 MUTANT TRANSCR	0.0008	1
GUANOSINE18 IN YEAST TRNAPHE-GAA MUTANT TRANSCRI	0.0002	1
GUANOSINE18 IN YEAST TRNAPHE-GGA MUTANT TRANSCRI	0.0002	1
GUANOSINE18 IN YEAST TRNAPHE-GUA MUTANT TRANSCRI	0.0003	1

Catalyzed reactions (Rhea), 1 shown:

• guanosine(18) in tRNA + S-adenosyl-L-methionine = 2’-O-methylguanosine(18) in tRNA + S-adenosyl-L-homocysteine + H(+) (RHEA:20077)

UniProt features (35 total): sequence variant 10, helix 9, strand 7, binding site 5, modified residue 2, chain 1, turn 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2HA8	X-RAY DIFFRACTION	1.6

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q13395-F1	80.45	0.30

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 (5): 1543; 1566; 1586; 1588; 1595

Post-translational modifications (2): 1, 1442

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 143 (showing top): GOBP_TRNA_METABOLIC_PROCESS, GOBP_RNA_METHYLATION, PATIL_LIVER_CANCER, SCHUHMACHER_MYC_TARGETS_UP, GOBP_RNA_MODIFICATION, GOBP_TRNA_METHYLATION, DODD_NASOPHARYNGEAL_CARCINOMA_UP, TANAKA_METHYLATED_IN_ESOPHAGEAL_CARCINOMA, CAIRO_HEPATOBLASTOMA_UP, SPIELMAN_LYMPHOBLAST_EUROPEAN_VS_ASIAN_UP, HOEBEKE_LYMPHOID_STEM_CELL_UP, MARTINEZ_RESPONSE_TO_TRABECTEDIN_DN, ACEVEDO_LIVER_CANCER_UP, GOBP_METHYLATION, GOBP_TRNA_PROCESSING

GO Biological Process (5): regulation of transcription by RNA polymerase II (GO:0006357), tRNA methylation (GO:0030488), RNA processing (GO:0006396), tRNA processing (GO:0008033), methylation (GO:0032259)

GO Molecular Function (7): tRNA binding (GO:0000049), RNA binding (GO:0003723), tRNA (guanine) methyltransferase activity (GO:0016423), tRNA (guanine(18)-2’-O-ribose)-methyltransferase activity (GO:0141100), methyltransferase activity (GO:0008168), RNA methyltransferase activity (GO:0008173), transferase activity (GO:0016740)

GO Cellular Component (1): nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of DNA-templated transcription	1
transcription by RNA polymerase II	1
RNA methylation	1
tRNA modification	1
gene expression	1
RNA biosynthetic process	1
primary metabolic process	1
RNA processing	1
tRNA metabolic process	1
metabolic process	1
RNA binding	1
nucleic acid binding	1
tRNA methyltransferase activity	1
S-adenosylmethionine-dependent methyltransferase activity	1
tRNA (guanine) methyltransferase activity	1
transferase activity, transferring one-carbon groups	1
methyltransferase activity	1
catalytic activity, acting on RNA	1
catalytic activity	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1867 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TARBP1	CCT4	P50991	840
TARBP1	RBM8A	Q9Y5S9	835
TARBP1	EEF1A1	P04719	788
TARBP1	TRMT1	Q9NXH9	747
TARBP1	FTSJ1	Q9UET6	704
TARBP1	TRUB1	Q8WWH5	689
TARBP1	TRMT44	Q8IYL2	639
TARBP1	METTL1	Q9UBP6	612
TARBP1	TRMT10A	Q8TBZ6	611
TARBP1	TARBP2	Q15633	573
TARBP1	NSUN2	Q08J23	521
TARBP1	TRMT5	Q32P41	519
TARBP1	CCNE1	P24864	496
TARBP1	TRMT6	Q9UJA5	476
TARBP1	WDR4	P57081	467

IntAct

85 interactions, top by confidence:

A	B	Type	Score
GMNN	MCIDAS	psi-mi:“MI:0914”(association)	0.770
FAF2	UBB	psi-mi:“MI:0914”(association)	0.640
SCN2B	EXOC5	psi-mi:“MI:0914”(association)	0.640
VSIG1	TTI1	psi-mi:“MI:0914”(association)	0.640
SLC2A12	METTL15	psi-mi:“MI:0914”(association)	0.530
PLA2G10	CHEK1	psi-mi:“MI:0914”(association)	0.530
SCN3B	ABCC5	psi-mi:“MI:0914”(association)	0.530
TNFRSF17	TSPAN6	psi-mi:“MI:0914”(association)	0.530
RASL10B	AHCYL1	psi-mi:“MI:0914”(association)	0.530
CXCR4	TMEM120B	psi-mi:“MI:0914”(association)	0.530
PBXIP1	GOLIM4	psi-mi:“MI:0914”(association)	0.530
VSIG1	TNPO2	psi-mi:“MI:0914”(association)	0.530
RAB6B	SBF1	psi-mi:“MI:0914”(association)	0.530
HSF4	HSF1	psi-mi:“MI:0914”(association)	0.530
TARBP1	PA2G4	psi-mi:“MI:0915”(physical association)	0.400
TARBP1	HSPA5	psi-mi:“MI:0915”(physical association)	0.400
Zbtb2	ENO1	psi-mi:“MI:0914”(association)	0.350
CHMP4B		psi-mi:“MI:0914”(association)	0.350
HNRNPD	ARHGAP32	psi-mi:“MI:0914”(association)	0.350
SYNCRIP	ARHGAP32	psi-mi:“MI:0914”(association)	0.350
BAG6	CNOT1	psi-mi:“MI:0914”(association)	0.350
SCGB2A2	GXYLT2	psi-mi:“MI:0914”(association)	0.350
DLK2	SLC22A23	psi-mi:“MI:0914”(association)	0.350
TAFA3	FUOM	psi-mi:“MI:0914”(association)	0.350

BioGRID (113): TARBP1 (Affinity Capture-MS), TARBP1 (Affinity Capture-MS), TARBP1 (Affinity Capture-MS), TARBP1 (Affinity Capture-MS), TARBP1 (Affinity Capture-MS), ASNA1 (Co-fractionation), TARBP1 (Co-fractionation), TARBP1 (Co-fractionation), TARBP1 (Proximity Label-MS), TARBP1 (Affinity Capture-MS), TARBP1 (Affinity Capture-MS), TARBP1 (Affinity Capture-MS), TARBP1 (Affinity Capture-MS), TARBP1 (Affinity Capture-MS), TARBP1 (Affinity Capture-MS)

ESM2 similar proteins: A0JM49, A2AKG8, B0V0U5, B1AUR6, B3DIY3, C5J7W8, E1BGH8, E1C2Z0, E9Q368, F6S215, O08662, O19104, O35870, O60287, P42173, P50652, Q00597, Q13315, Q13395, Q14146, Q3TQQ9, Q4R7B1, Q4V847, Q571H0, Q5EB59, Q5TYP4, Q5VW36, Q5WNI9, Q5XI94, Q5ZKU4, Q5ZLS8, Q62388, Q6P423, Q6PQD5, Q6TNU3, Q6ZRQ5, Q75QN2, Q7SY48, Q80TA9, Q80UK8

Diamond homologs: E9Q368, P0AGJ5, P0AGJ6, Q07527, Q13395

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 115 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
Ras activation upon Ca2+ influx through NMDA receptor	6	49.6×	8e-07
RAF/MAP kinase cascade	6	5.3×	9e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	203
Likely benign	12
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

4880 predictions. Top by Δscore:

Variant	Effect	Δscore
1:234391741:CATTT:C	acceptor_gain	1.0000
1:234391742:ATTT:A	acceptor_gain	1.0000
1:234391743:TTT:T	acceptor_gain	1.0000
1:234391744:TT:T	acceptor_gain	1.0000
1:234391745:TCT:T	acceptor_loss	1.0000
1:234391746:C:CC	acceptor_gain	1.0000
1:234391746:C:CG	acceptor_loss	1.0000
1:234391747:T:A	acceptor_loss	1.0000
1:234392466:A:C	donor_gain	1.0000
1:234392552:CCTGA:C	acceptor_loss	1.0000
1:234392565:T:C	acceptor_gain	1.0000
1:234392565:T:TC	acceptor_gain	1.0000
1:234393640:CTTTA:C	donor_loss	1.0000
1:234393641:TTTA:T	donor_loss	1.0000
1:234393642:TTACC:T	donor_loss	1.0000
1:234393643:TACCT:T	donor_loss	1.0000
1:234393644:ACCT:A	donor_gain	1.0000
1:234393645:C:G	donor_loss	1.0000
1:234393645:CCTC:C	donor_gain	1.0000
1:234393647:T:TA	donor_gain	1.0000
1:234393707:T:A	donor_gain	1.0000
1:234393833:AGTAC:A	acceptor_gain	1.0000
1:234393834:GTAC:G	acceptor_gain	1.0000
1:234393835:TAC:T	acceptor_gain	1.0000
1:234393836:AC:A	acceptor_gain	1.0000
1:234393836:ACC:A	acceptor_loss	1.0000
1:234393837:CC:C	acceptor_gain	1.0000
1:234393838:C:CC	acceptor_gain	1.0000
1:234393838:C:T	acceptor_gain	1.0000
1:234393838:CTG:C	acceptor_loss	1.0000

AlphaMissense

10562 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:234467627:A:G	W375R	0.998
1:234467627:A:T	W375R	0.998
1:234391643:A:C	S1600R	0.997
1:234391643:A:T	S1600R	0.997
1:234391645:T:G	S1600R	0.997
1:234391655:A:C	N1596K	0.997
1:234391655:A:T	N1596K	0.997
1:234392428:A:G	L1562P	0.997
1:234393395:A:C	S1509R	0.997
1:234393395:A:T	S1509R	0.997
1:234393397:T:G	S1509R	0.997
1:234393477:C:A	R1482M	0.997
1:234393684:A:T	V1466D	0.997
1:234418152:A:G	W1213R	0.997
1:234418152:A:T	W1213R	0.997
1:234392425:A:G	L1563P	0.996
1:234393408:A:G	F1505S	0.996
1:234393477:C:G	R1482T	0.996
1:234393483:A:G	L1480P	0.996
1:234420745:C:G	R1171P	0.996
1:234472758:A:G	W329R	0.996
1:234472758:A:T	W329R	0.996
1:234392466:A:C	S1549R	0.995
1:234392466:A:T	S1549R	0.995
1:234392468:T:G	S1549R	0.995
1:234393407:A:C	F1505L	0.995
1:234393407:A:T	F1505L	0.995
1:234393409:A:G	F1505L	0.995
1:234393476:C:A	R1482S	0.995
1:234393476:C:G	R1482S	0.995

dbSNP variants (sampled 300 via entrez): RS1000024839 (1:234480740 G>A), RS1000025228 (1:234391307 AAT>A), RS1000038477 (1:234470953 T>G), RS1000045628 (1:234410868 T>G), RS1000074225 (1:234475207 A>G), RS1000110064 (1:234393754 C>T), RS1000189358 (1:234453332 T>G), RS1000191495 (1:234418692 C>T), RS1000222475 (1:234418342 G>T), RS1000302347 (1:234396779 A>G), RS1000311477 (1:234453247 T>C), RS1000343609 (1:234452971 G>A), RS1000370334 (1:234403266 G>C), RS1000382308 (1:234412626 C>T), RS1000419167 (1:234403602 G>A,C)

Disease associations

OMIM: gene MIM:605052 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST000098_6	Cognitive test performance	6.000000e-06
GCST008479_15	Psoriasis	1.000000e-07
GCST011946_9	White matter hyperintensity volume	1.000000e-06
GCST011947_60	White matter hyperintensity volume	5.000000e-07
GCST011949_27	White matter hyperintensity volume (adjusted for hypertension)	8.000000e-07
GCST011950_21	White matter hyperintensity volume (adjusted for hypertension)	3.000000e-07
GCST011952_22	White matter hyperintensity volume x hypertension interaction (2df)	6.000000e-06
GCST011953_6	White matter hyperintensity volume x hypertension interaction (2df)	2.000000e-06

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0003926	neuropsychological test
EFO:0005665	white matter hyperintensity measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL2807 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects binding, affects reaction, increases reaction, decreases expression, increases abundance	3
Arsenic	affects methylation, decreases expression, increases abundance	2
Cisplatin	affects cotreatment, increases expression, decreases expression	2
Tetrachlorodibenzodioxin	decreases expression	2
Cadmium Chloride	increases abundance, increases expression, decreases expression	2
aristolochic acid I	decreases expression	1
TAK-243	increases sumoylation	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
cobaltous chloride	decreases expression	1
CGP 52608	affects binding, increases reaction	1
abrine	decreases expression	1
pyrachlostrobin	decreases expression	1
jinfukang	affects cotreatment, increases expression	1
picoxystrobin	decreases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Air Pollutants, Occupational	affects expression	1
Antimycin A	decreases expression	1
Cadmium	increases abundance, increases expression	1
Ethyl Methanesulfonate	decreases expression	1
Formaldehyde	decreases expression	1
Methyl Methanesulfonate	decreases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Quercetin	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Urethane	decreases expression	1
Valproic Acid	affects expression	1
Cyclosporine	decreases expression	1

ChEMBL screening assays

2 unique, capped per target: 2 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL4118975	Binding	Binding affinity to TARBP1 in human NCI-H358 cells at 1 uM by mass spectrometry based pull down assay	Studies of TAK1-centered polypharmacology with novel covalent TAK1 inhibitors. — Bioorg Med Chem

Clinical trials (associated diseases)

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