UTP20

Summary

UTP20 (UTP20 small subunit processome component, HGNC:17897) is a protein-coding gene on chromosome 12q23.2, encoding Small subunit processome component 20 homolog (O75691). Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. It is a common-essential gene (DepMap: required in 99.8% of cancer cell lines).

UTP20 is a component of the U3 small nucleolar RNA (snoRNA) (SNORD3A; MIM 180710) protein complex (U3 snoRNP) and is involved in 18S rRNA processing (Wang et al., 2007 [PubMed 17498821]).

Source: NCBI Gene 27340 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 443 total
• Druggable target: yes — 1 molecules with ChEMBL bioactivity
• Cancer dependency (DepMap): dependent in 99.8% of screened cell lines (common-essential)
• MANE Select transcript: NM_014503

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17897
Approved symbol	UTP20
Name	UTP20 small subunit processome component
Location	12q23.2
Locus type	gene with protein product
Status	Approved
Aliases	DRIM, 1A6/DRIM
Ensembl gene	ENSG00000120800
Ensembl biotype	protein_coding
OMIM	612822
Entrez	27340

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 3 protein_coding, 3 retained_intron

ENST00000261637, ENST00000551345, ENST00000551825, ENST00000551998, ENST00000923496, ENST00000923497

RefSeq mRNA: 1 — MANE Select: NM_014503 NM_014503

CCDS: CCDS9081

Canonical transcript exons

ENST00000261637 — 62 exons

Exon	Start	End
ENSE00000497875	101342787	101342837
ENSE00000753967	101354832	101355118
ENSE00000753970	101361962	101362060
ENSE00000818178	101344595	101344750
ENSE00000922769	101290733	101290888
ENSE00000922770	101291742	101291888
ENSE00000922771	101291970	101292104
ENSE00000922778	101327081	101327247
ENSE00000922779	101329241	101329449
ENSE00000922780	101333301	101333444
ENSE00000922781	101334425	101334504
ENSE00000922783	101338051	101338277
ENSE00000922784	101338813	101338957
ENSE00000922786	101340523	101340610
ENSE00000922788	101342446	101342589
ENSE00000922790	101342941	101343093
ENSE00000937742	101293168	101293245
ENSE00000937743	101295480	101295658
ENSE00000937744	101299682	101299837
ENSE00000937745	101299973	101300061
ENSE00000937746	101302448	101302553
ENSE00000937747	101305915	101306065
ENSE00000937748	101306699	101306761
ENSE00000937749	101308185	101308343
ENSE00000937750	101309763	101309839
ENSE00000937751	101311719	101311798
ENSE00000937752	101312036	101312276
ENSE00000937753	101317478	101317663
ENSE00000937754	101319545	101319635
ENSE00000937755	101320852	101320937
ENSE00000937756	101321504	101321629
ENSE00001154773	101385583	101385728
ENSE00001154780	101383543	101383669
ENSE00001154785	101383041	101383313
ENSE00001154796	101381140	101381211
ENSE00001154805	101379371	101379558
ENSE00001154814	101375624	101375756
ENSE00001154819	101374808	101374939
ENSE00001154825	101373585	101373767
ENSE00001154832	101373401	101373470
ENSE00001154843	101372884	101372963
ENSE00001154851	101371058	101371168
ENSE00001154862	101370432	101370563
ENSE00001154867	101369721	101369891
ENSE00001154877	101367860	101367976
ENSE00001154886	101366558	101366699
ENSE00001154893	101365459	101365625
ENSE00001154901	101363576	101363743
ENSE00001154914	101356926	101357082
ENSE00001154922	101356554	101356693
ENSE00001154936	101353047	101353129
ENSE00001154941	101352055	101352194
ENSE00001154949	101346451	101346588
ENSE00001154956	101345554	101345694
ENSE00001195076	101385968	101386618
ENSE00002333153	101280105	101280327
ENSE00003496009	101290137	101290274
ENSE00003518604	101286321	101286509
ENSE00003533765	101288960	101289041
ENSE00003545723	101285749	101285881
ENSE00003616459	101281116	101281196
ENSE00003644966	101285570	101285636

Expression profiles

Bgee: expression breadth ubiquitous, 215 present calls, max score 83.74.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.6523 / max 123.6232, expressed in 1773 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
127602	14.5128	1772
127603	0.1395	53

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.74	gold quality
tendon of biceps brachii	UBERON:0008188	82.26	gold quality
minor salivary gland	UBERON:0001830	81.83	gold quality
tendon	UBERON:0000043	81.51	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	81.18	gold quality
calcaneal tendon	UBERON:0003701	80.98	gold quality
adrenal tissue	UBERON:0018303	80.27	gold quality
mouth mucosa	UBERON:0003729	80.09	gold quality
ventricular zone	UBERON:0003053	79.81	gold quality
upper arm skin	UBERON:0004263	79.70	gold quality
saliva-secreting gland	UBERON:0001044	79.03	gold quality
cortical plate	UBERON:0005343	78.25	gold quality
buccal mucosa cell	CL:0002336	78.14	silver quality
secondary oocyte	CL:0000655	78.13	gold quality
cranial nerve II	UBERON:0000941	77.56	gold quality
stromal cell of endometrium	CL:0002255	77.41	gold quality
gastrocnemius	UBERON:0001388	77.32	gold quality
cervix squamous epithelium	UBERON:0006922	77.09	gold quality
ganglionic eminence	UBERON:0004023	77.06	gold quality
muscle of leg	UBERON:0001383	76.75	gold quality
islet of Langerhans	UBERON:0000006	76.70	gold quality
tonsil	UBERON:0002372	76.41	gold quality
sural nerve	UBERON:0015488	75.52	gold quality
corpus callosum	UBERON:0002336	75.51	gold quality
adrenal gland	UBERON:0002369	75.49	gold quality
nasal cavity epithelium	UBERON:0005384	75.46	silver quality
mammary duct	UBERON:0001765	75.40	silver quality
left ovary	UBERON:0002119	75.28	gold quality
right adrenal gland	UBERON:0001233	75.15	gold quality
pancreas	UBERON:0001264	75.12	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	8.45
E-MTAB-7008	no	130.97

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

35 targeting UTP20, 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-3613-3P	100.00	76.36	7965
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-656-3P	100.00	72.15	2788
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-3617-3P	99.98	67.86	918
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-9902	99.89	69.15	2250
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-3180-5P	99.82	69.12	2422
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-323A-3P	99.79	70.30	1739
HSA-MIR-1273H-5P	99.77	66.32	2471
HSA-MIR-30B-3P	99.70	65.76	2325
HSA-MIR-3689A-3P	99.70	65.73	2306
HSA-MIR-3689B-3P	99.70	65.71	2311
HSA-MIR-3689C	99.70	65.71	2311
HSA-MIR-6779-5P	99.70	65.76	2363
HSA-MIR-1283	99.69	72.42	3009
HSA-MIR-7844-5P	99.55	68.56	1428
HSA-MIR-7106-5P	99.53	67.47	3574
HSA-MIR-4284	99.36	65.25	1293
HSA-MIR-6799-5P	99.14	65.72	2093
HSA-MIR-485-5P	99.10	64.78	1889

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 99.8% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 4)

• Analysis of the relationship between DRIM gene expression and the metastatic phenotype of breast neoplasms. (PMID:14503924)
• a single region located between amino acids 2744 and 2761 at the C-terminus is capable of nucleolar accumulation. Two basic amino acid clusters within this region are essential for nucleolar accumulation. (PMID:16458307)
• DRIM is involved in 18S rRNA processing (PMID:17498821)
• 1A6/DRIM activates Pol I transcription most likely by associating with both hALP and UBF and thereby affecting the acetylation of UBF (PMID:21151873)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	utp20	ENSDARG00000099280
mus_musculus	Utp20	ENSMUSG00000004356
rattus_norvegicus	Utp20	ENSRNOG00000005823
drosophila_melanogaster	CG4554	FBGN0034734
caenorhabditis_elegans		WBGENE00007050

Protein

Protein identifiers

Small subunit processome component 20 homolog — O75691 (reviewed: O75691)

Alternative names: Down-regulated in metastasis protein, Novel nucleolar protein 73, Protein Key-1A6

All UniProt accessions (1): O75691

UniProt curated annotations — full annotation on UniProt →

Function. Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome. Involved in 18S pre-rRNA processing. Associates with U3 snoRNA.

Subunit / interactions. Part of the small subunit (SSU) processome, composed of more than 70 proteins and the RNA chaperone small nucleolar RNA (snoRNA) U3. Interacts with FBL and PPP1R26.

Subcellular location. Nucleus. Nucleolus.

Tissue specificity. Expressed in appendix, brain, colon, fetal liver, heart, ovary, pancreas, placenta, prostate, skeletal muscle, small intestine, spleen, testis and thymus.

Similarity. Belongs to the UTP20 family.

RefSeq proteins (1): NP_055318* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR011430	UTP20_N	Domain
IPR016024	ARM-type_fold	Homologous_superfamily
IPR046523	UTP20_dom	Domain
IPR052575	SSU_processome_comp_20	Family
IPR057525	UTP20_C	Domain

Pfam: PF07539, PF20416, PF23099

UniProt features (33 total): mutagenesis site 13, sequence variant 6, modified residue 4, repeat 2, region of interest 2, short sequence motif 2, chain 1, sequence conflict 1, coiled-coil region 1, compositionally biased region 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
7MQA	ELECTRON MICROSCOPY	2.7
7MQ8	ELECTRON MICROSCOPY	3.6
7MQ9	ELECTRON MICROSCOPY	3.87

Predicted structure (AlphaFold)

No AlphaFold model available for O75691 — AlphaFold DB does not currently provide models for proteins above ~3000 aa.

Functional residue map

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

Post-translational modifications (4): 1741, 2601, 2637, 788

Mutagenesis-validated functional residues (13):

Position	Phenotype
2744–2746	inhibits nucleolar but not nuclear localization.
2744	does not decrease nucleolar localization.
2745	does not decrease nucleolar localization.
2746	decreases nucleolar localization.
2748–2749	inhibits nucleolar but not nuclear localization.
2748	does not decrease nucleolar localization.
2749	decreases nucleolar localization.
2751	does not decrease nucleolar localization.
2753	does not decrease nucleolar localization.
2757–2760	inhibits nucleolar localization and decreases nuclear localization.
2757	does not decrease nucleolar localization.
2758	does not decrease nucleolar localization.
2760	does not decrease nucleolar localization.

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-6790901	rRNA modification in the nucleus and cytosol
R-HSA-6791226	Major pathway of rRNA processing in the nucleolus and cytosol

MSigDB gene sets: 146 (showing top): GSE45365_NK_CELL_VS_BCELL_UP, GOBP_RIBOSOME_BIOGENESIS, GGGNRMNNYCAT_UNKNOWN, GOBP_MATURATION_OF_SSU_RRNA, PUJANA_CHEK2_PCC_NETWORK, GOBP_MATURATION_OF_5_8S_RRNA_FROM_TRICISTRONIC_RRNA_TRANSCRIPT_SSU_RRNA_5_8S_RRNA_LSU_RRNA, GOBP_RIBOSOMAL_SMALL_SUBUNIT_BIOGENESIS, GOBP_MATURATION_OF_SSU_RRNA_FROM_TRICISTRONIC_RRNA_TRANSCRIPT_SSU_RRNA_5_8S_RRNA_LSU_RRNA, GOBP_MATURATION_OF_5_8S_RRNA, GOBP_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS, GAJATE_RESPONSE_TO_TRABECTEDIN_DN, REACTOME_METABOLISM_OF_RNA, GOCC_90S_PRERIBOSOME, GCCATNTTG_YY1_Q6, GOCC_PRERIBOSOME

GO Biological Process (6): endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447), endonucleolytic cleavage to generate mature 5’-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472), endonucleolytic cleavage in 5’-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480), rRNA processing (GO:0006364), negative regulation of cell population proliferation (GO:0008285), ribosomal small subunit biogenesis (GO:0042274)

GO Molecular Function (2): RNA binding (GO:0003723), protein binding (GO:0005515)

GO Cellular Component (8): nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytoplasm (GO:0005737), plasma membrane (GO:0005886), 90S preribosome (GO:0030686), preribosome, small subunit precursor (GO:0030688), small-subunit processome (GO:0032040), nucleus (GO:0005634)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
rRNA processing in the nucleus and cytosol	2

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	3
endonucleolytic cleavage of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	3
preribosome	3
ribosome biogenesis	2
nuclear lumen	2
cellular anatomical structure	2
t-UTP complex	2
maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	1
rRNA 5’-end processing	1
RNA processing	1
rRNA metabolic process	1
cell population proliferation	1
regulation of cell population proliferation	1
negative regulation of cellular process	1
ribonucleoprotein complex biogenesis	1
nucleic acid binding	1
binding	1
intracellular membraneless organelle	1
intracellular anatomical structure	1
membrane	1
cell periphery	1
nucleolus	1
nuclear protein-containing complex	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

2033 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
UTP20	NAT10	Q9H0A0	903
UTP20	HEATR1	Q9H583	866
UTP20	RCL1	Q9Y2P8	823
UTP20	PDCD11	Q14690	815
UTP20	NOP14	P78316	798
UTP20	RRP12	Q5JTH9	781
UTP20	UTP14A	Q9BVJ6	756
UTP20	UTP11	Q9Y3A2	723
UTP20	PNO1	Q9NRX1	717
UTP20	RRP36	Q96EU6	716
UTP20	BMS1	Q14692	713
UTP20	UTP18	Q9Y5J1	709
UTP20	RSL1D1	O76021	706
UTP20	RRP7A	Q9Y3A4	689
UTP20	KRR1	Q13601	678

IntAct

95 interactions, top by confidence:

A	B	Type	Score
SCN2B	EXOC5	psi-mi:“MI:0914”(association)	0.640
VSIG1	TTI1	psi-mi:“MI:0914”(association)	0.640
KPNA1	TCERG1	psi-mi:“MI:0914”(association)	0.640
UTP20	PPP1R26	psi-mi:“MI:0915”(physical association)	0.630
PPP1R26	UTP20	psi-mi:“MI:0915”(physical association)	0.630
GYPB	TCAF2	psi-mi:“MI:0914”(association)	0.530
SCN3B	ABCC5	psi-mi:“MI:0914”(association)	0.530
CD274	TTI1	psi-mi:“MI:0914”(association)	0.530
CLMP	UTP20	psi-mi:“MI:0914”(association)	0.530
CD70	METTL15	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
NPTN	TNPO2	psi-mi:“MI:0914”(association)	0.530
ANKRD22	ESYT2	psi-mi:“MI:0914”(association)	0.530
VTN	HAT1	psi-mi:“MI:0914”(association)	0.530
DDX21	MED19	psi-mi:“MI:2364”(proximity)	0.480
UTP20	HNRNPDL	psi-mi:“MI:0915”(physical association)	0.400
UTP20	SFPQ	psi-mi:“MI:0915”(physical association)	0.400
Ercc6l	RPL17	psi-mi:“MI:0914”(association)	0.350
FOXL1	DDX39A	psi-mi:“MI:0914”(association)	0.350
KSR1	DDX39A	psi-mi:“MI:0914”(association)	0.350
RRP1B	ZNF785	psi-mi:“MI:0914”(association)	0.350

BioGRID (254): UTP20 (Affinity Capture-MS), UTP20 (Affinity Capture-MS), UTP20 (Affinity Capture-MS), UTP20 (Affinity Capture-MS), UTP20 (Affinity Capture-MS), UTP20 (Affinity Capture-MS), UTP20 (Affinity Capture-MS), DCAF13 (Co-fractionation), NOL6 (Co-fractionation), NOP56 (Co-fractionation), NOP58 (Co-fractionation), PWP1 (Co-fractionation), RPS7 (Co-fractionation), UPF3B (Co-fractionation), UTP20 (Co-fractionation)

ESM2 similar proteins: A0A0B4K859, A1Z7L1, A1ZBE8, A8WTE8, F4JC97, F4KBW6, F6S215, F6WXT2, O13665, O60287, O75691, P34343, P40090, P42173, P48322, P49815, P49816, P78527, P78847, Q03280, Q09716, Q21106, Q571H0, Q5SRE5, Q5WNI9, Q61037, Q6ZQH8, Q750S2, Q8BH53, Q8IQV9, Q8MYL1, Q8QGX4, Q8WN22, Q93903, Q95YE9, Q9C8Z4, Q9DEI1, Q9FIN7, Q9HDV6, Q9P7M6

Diamond homologs: O75691, Q5XG71

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	356
Likely benign	22
Benign	13

Top pathogenic / likely-pathogenic (0)

SpliceAI

7781 predictions. Top by Δscore:

Variant	Effect	Δscore
12:101281110:TTCCA:T	acceptor_loss	1.0000
12:101281111:TCCA:T	acceptor_loss	1.0000
12:101281112:CCAGT:C	acceptor_loss	1.0000
12:101281113:CA:C	acceptor_loss	1.0000
12:101281114:A:AG	acceptor_gain	1.0000
12:101281114:A:T	acceptor_loss	1.0000
12:101281115:G:A	acceptor_loss	1.0000
12:101281115:G:GC	acceptor_gain	1.0000
12:101281115:GT:G	acceptor_gain	1.0000
12:101281115:GTT:G	acceptor_gain	1.0000
12:101281115:GTTT:G	acceptor_gain	1.0000
12:101281115:GTTTC:G	acceptor_gain	1.0000
12:101281193:GGAG:G	donor_gain	1.0000
12:101281194:GAGG:G	donor_gain	1.0000
12:101281195:AG:A	donor_loss	1.0000
12:101281196:GG:G	donor_loss	1.0000
12:101281197:G:C	donor_loss	1.0000
12:101281198:T:G	donor_loss	1.0000
12:101286319:AGTTT:A	acceptor_gain	1.0000
12:101286320:GTTTG:G	acceptor_gain	1.0000
12:101290730:CAGG:C	acceptor_loss	1.0000
12:101290731:A:AC	acceptor_loss	1.0000
12:101290732:G:GA	acceptor_loss	1.0000
12:101290732:GGCA:G	acceptor_gain	1.0000
12:101290856:G:GT	donor_gain	1.0000
12:101290857:A:T	donor_gain	1.0000
12:101290882:TTTGC:T	donor_gain	1.0000
12:101290889:G:GG	donor_gain	1.0000
12:101291733:T:TA	acceptor_gain	1.0000
12:101291736:TTGCA:T	acceptor_loss	1.0000

AlphaMissense

18420 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:101281116:T:C	F16L	0.999
12:101281118:T:A	F16L	0.999
12:101281118:T:G	F16L	0.999
12:101281125:T:C	F19L	0.998
12:101281127:T:A	F19L	0.998
12:101281127:T:G	F19L	0.998
12:101281135:G:C	R22P	0.998
12:101286347:T:C	L118P	0.998
12:101289018:A:C	S192R	0.998
12:101289020:T:A	S192R	0.998
12:101289020:T:G	S192R	0.998
12:101356976:G:C	R1862T	0.998
12:101356977:A:C	R1862S	0.998
12:101356977:A:T	R1862S	0.998
12:101356988:G:C	R1866P	0.998
12:101363666:A:C	S1961R	0.998
12:101363668:T:A	S1961R	0.998
12:101363668:T:G	S1961R	0.998
12:101289010:C:A	A189D	0.997
12:101289027:T:C	F195L	0.997
12:101289029:T:A	F195L	0.997
12:101289029:T:G	F195L	0.997
12:101289037:G:C	R198T	0.997
12:101289038:A:C	R198S	0.997
12:101289038:A:T	R198S	0.997
12:101312197:T:A	W825R	0.997
12:101312197:T:C	W825R	0.997
12:101356976:G:T	R1862I	0.997
12:101281117:T:C	F16S	0.996
12:101281126:T:G	F19C	0.996

dbSNP variants (sampled 300 via entrez): RS1000015666 (12:101371735 T>A,C), RS1000017917 (12:101299766 G>C), RS1000070312 (12:101326425 A>G), RS1000079954 (12:101310456 T>C), RS1000087115 (12:101283746 C>T), RS1000096848 (12:101374622 G>T), RS1000111122 (12:101313543 A>T), RS1000147096 (12:101364138 G>A), RS1000179658 (12:101351616 G>T), RS1000180664 (12:101332684 A>G,T), RS1000211940 (12:101288490 A>G), RS1000234752 (12:101301595 G>C), RS1000243565 (12:101365149 T>C), RS1000291507 (12:101308234 C>A), RS1000303721 (12:101378372 T>A)

Disease associations

OMIM: gene MIM:612822 | 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
GCST000097_1	Coronary artery calcification	7.000000e-06
GCST000615_3	Brain structure (hippocampal volume)	3.000000e-06
GCST002477_6	Alcohol dependence (age at onset)	4.000000e-08
GCST008513_28	Health literacy	5.000000e-06

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004723	coronary artery calcification
EFO:0005035	hippocampal volume
EFO:0004847	age at onset
EFO:0010104	health literacy measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5725050 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 1,538 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL1232461	MOLIBRESIB	2	1,538

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

ChEMBL bioactivities

3 potent at pChembl≥5 of 3 total, top 3 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.85	Kd	14.18	nM	CHEMBL5653589
7.85	ED50	14.18	nM	CHEMBL5653589
6.77	IC50	170	nM	MOLIBRESIB

PubChem BioAssay actives

2 with measured affinity, of 8 total; 2 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149749: Binding affinity to human UTP20 incubated for 45 mins by Kinobead based pull down assay	kd	0.0142	uM
2-[(4S)-6-(4-chlorophenyl)-8-methoxy-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-4-yl]-N-ethylacetamide	2178537: Inhibition of UTP20 (unknown origin) incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis	ic50	0.1700	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases methylation, increases expression	3
Cadmium Chloride	decreases expression, increases abundance, increases expression	3
sodium arsenite	decreases expression, affects cotreatment, increases abundance, increases expression	2
Cisplatin	affects cotreatment, decreases expression	2
Tretinoin	decreases expression	2
aristolochic acid I	decreases expression	1
FR900359	increases phosphorylation	1
TAK-243	decreases sumoylation	1
alpha phellandrene	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	affects cotreatment, decreases expression	1
deoxynivalenol	increases expression	1
sodium arsenate	decreases expression	1
trichostatin A	increases expression	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
nivalenol	increases expression	1
tamibarotene	decreases expression	1
CGP 52608	affects binding, increases reaction	1
perfluoro-n-nonanoic acid	increases expression	1
abrine	decreases expression	1
bisphenol S	affects cotreatment, decreases expression	1
jinfukang	affects cotreatment, decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Arsenic	increases abundance, increases expression, affects cotreatment	1
Benzo(a)pyrene	affects methylation	1
Cadmium	increases abundance, increases expression	1
Dichlorodiphenyl Dichloroethylene	increases expression	1
Dexamethasone	affects cotreatment, decreases expression	1

ChEMBL screening assays

7 unique, capped per target: 7 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5652791	Binding	Binding affinity to human UTP20 incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Clinical trials (associated diseases)

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