UTRN

Summary

UTRN (utrophin, HGNC:12635) is a protein-coding gene on chromosome 6q24.2, encoding Utrophin (P46939). May play a role in anchoring the cytoskeleton to the plasma membrane.

This gene shares both structural and functional similarities with the dystrophin gene. It contains an actin-binding N-terminus, a triple coiled-coil repeat central region, and a C-terminus that consists of protein-protein interaction motifs which interact with dystroglycan protein components. The protein encoded by this gene is located at the neuromuscular synapse and myotendinous junctions, where it participates in post-synaptic membrane maintenance and acetylcholine receptor clustering. Mouse studies suggest that this gene may serve as a functional substitute for the dystrophin gene and therefore, may serve as a potential therapeutic alternative to muscular dystrophy which is caused by mutations in the dystrophin gene. Alternative splicing of the utrophin gene has been described; however, the full-length nature of these variants has not yet been determined.

Source: NCBI Gene 7402 — RefSeq curated summary.

At a glance

• Gene–disease (curated): schizophrenia (No Known Disease Relationship, GenCC)
• GWAS associations: 13
• Clinical variants (ClinVar): 678 total — 1 likely-pathogenic
• Druggable target: yes — 1 molecules with ChEMBL bioactivity
• MANE Select transcript: NM_007124

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:12635
Approved symbol	UTRN
Name	utrophin
Location	6q24.2
Locus type	gene with protein product
Status	Approved
Aliases	DRP, DRP1
Ensembl gene	ENSG00000152818
Ensembl biotype	protein_coding
OMIM	128240
Entrez	7402

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 9 protein_coding, 3 protein_coding_CDS_not_defined

ENST00000367524, ENST00000367525, ENST00000367526, ENST00000367545, ENST00000417142, ENST00000421035, ENST00000432686, ENST00000455022, ENST00000460618, ENST00000465299, ENST00000480333, ENST00000628146

RefSeq mRNA: 2 — MANE Select: NM_007124 NM_001375323, NM_007124

CCDS: CCDS34547, CCDS94016

Canonical transcript exons

ENST00000367545 — 75 exons

Exon	Start	End
ENSE00001007387	144423549	144423626
ENSE00001007390	144423986	144424078
ENSE00001007393	144421878	144421970
ENSE00001084796	144839173	144839284
ENSE00001084798	144827611	144827676
ENSE00001084799	144803036	144803147
ENSE00001084800	144514650	144514820
ENSE00001084801	144754720	144754798
ENSE00001084803	144751806	144751952
ENSE00001084804	144485385	144485519
ENSE00001084805	144479812	144479982
ENSE00001084807	144482209	144482388
ENSE00001084809	144493301	144493456
ENSE00001084810	144490929	144491102
ENSE00001084815	144499257	144499427
ENSE00001084816	144757929	144757989
ENSE00001084820	144516811	144516948
ENSE00001084824	144510944	144511123
ENSE00001084831	144836301	144836541
ENSE00001084833	144730357	144730486
ENSE00001084839	144531052	144531202
ENSE00001084840	144487548	144487697
ENSE00001084845	144820882	144821018
ENSE00001084847	144789194	144789279
ENSE00001084857	144781922	144782123
ENSE00001084858	144490071	144490199
ENSE00001084862	144771907	144771968
ENSE00001084863	144523016	144523188
ENSE00001084865	144516229	144516387
ENSE00001084866	144521980	144522171
ENSE00001084869	144827348	144827386
ENSE00001084870	144748246	144748514
ENSE00001084871	144488673	144488834
ENSE00001084873	144533085	144533260
ENSE00001293425	144542795	144542870
ENSE00001294544	144550965	144551082
ENSE00001296065	144557157	144557311
ENSE00001309213	144513909	144514037
ENSE00001312504	144537582	144537717
ENSE00001312804	144539294	144539443
ENSE00001314288	144548640	144548854
ENSE00001315483	144554688	144554893
ENSE00001317010	144577099	144577288
ENSE00001327700	144291737	144291907
ENSE00001444981	144850989	144853034
ENSE00001444982	144846805	144846827
ENSE00001906623	144774290	144774364
ENSE00002208483	144451370	144451493
ENSE00002210703	144438745	144438895
ENSE00002223546	144447602	144447781
ENSE00002226727	144437565	144437746
ENSE00002233678	144453782	144453869
ENSE00002256996	144461197	144461342
ENSE00002259854	144459174	144459354
ENSE00002264833	144447211	144447318
ENSE00002273250	144448600	144448769
ENSE00002279457	144458770	144459011
ENSE00002290277	144435935	144436138
ENSE00002296033	144428778	144428893
ENSE00002297770	144426287	144426459
ENSE00002304723	144444281	144444382
ENSE00002310800	144440352	144440471
ENSE00002313606	144429581	144429741
ENSE00002444292	144797824	144797990
ENSE00002452352	144473720	144473833
ENSE00002453097	144793834	144793991
ENSE00002506135	144474604	144474759
ENSE00002530935	144700087	144700243
ENSE00002686353	144462654	144462866
ENSE00002688830	144678406	144678578
ENSE00003492180	144840740	144840832
ENSE00003784756	144403123	144403184
ENSE00003785443	144828790	144828855
ENSE00003787093	144835780	144835938
ENSE00003924342	144285335	144285821

Expression profiles

Bgee: expression breadth ubiquitous, 272 present calls, max score 99.36.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 30.5302 / max 603.1679, expressed in 1698 samples.

FANTOM5 promoters (30 alternative TSS)

Promoter ID	TPM avg	Samples expressed
70307	14.7067	697
70294	3.6710	1119
70299	1.5845	863
70325	1.3878	191
70306	1.2883	308
70345	1.1240	546
70295	1.0777	613
70297	0.5505	275
70317	0.5446	206
70318	0.5243	233

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	99.36	gold quality
tendon	UBERON:0000043	99.10	gold quality
sural nerve	UBERON:0015488	98.71	gold quality
tendon of biceps brachii	UBERON:0008188	98.62	gold quality
trigeminal ganglion	UBERON:0001675	98.25	gold quality
colonic epithelium	UBERON:0000397	98.03	gold quality
monocyte	CL:0000576	97.32	gold quality
mononuclear cell	CL:0000842	96.96	gold quality
leukocyte	CL:0000738	96.82	gold quality
visceral pleura	UBERON:0002401	96.78	gold quality
pericardium	UBERON:0002407	96.73	gold quality
parietal pleura	UBERON:0002400	96.62	gold quality
epithelium of nasopharynx	UBERON:0001951	96.60	gold quality
sperm	CL:0000019	96.56	gold quality
renal medulla	UBERON:0000362	96.30	gold quality
urethra	UBERON:0000057	96.29	gold quality
dorsal root ganglion	UBERON:0000044	96.24	gold quality
lower lobe of lung	UBERON:0008949	96.20	gold quality
saphenous vein	UBERON:0007318	95.98	gold quality
mammary duct	UBERON:0001765	95.92	gold quality
skin of hip	UBERON:0001554	95.88	gold quality
pleura	UBERON:0000977	95.55	gold quality
superficial temporal artery	UBERON:0001614	95.51	gold quality
medial globus pallidus	UBERON:0002477	95.49	gold quality
synovial joint	UBERON:0002217	95.45	gold quality
tonsil	UBERON:0002372	95.42	gold quality
male germ cell	CL:0000015	95.36	gold quality
vena cava	UBERON:0004087	95.14	gold quality
endothelial cell	CL:0000115	95.04	gold quality
pylorus	UBERON:0001166	94.94	gold quality

Single-cell (SCXA)

Detected in 15 experiment(s), a significant marker in 9.

Experiment	Marker?	Max mean expression
E-MTAB-11268	yes	4056.94
E-CURD-119	yes	2639.06
E-HCAD-35	yes	804.28
E-HCAD-10	yes	17.34
E-MTAB-6678	yes	10.56
E-MTAB-10137	yes	6.31
E-HCAD-25	yes	5.93
E-GEOD-130148	yes	5.57
E-MTAB-11011	no	1613.55
E-ANND-2	no	1210.16
E-GEOD-106540	no	801.72
E-MTAB-8911	no	394.32
E-MTAB-3929	no	146.12
E-CURD-112	no	3.19
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): E2F1, EN1, ERF, GABPA, NFATC1, NRG1, SP1, SP3, SPI1

Literature-anchored findings (GeneRIF, showing 40)

• Accumulation of repeated elements could account for intron expansion in the evolution of the gene. (PMID:11861579)
• transcriptional upregulation in regenerating muscle (PMID:11875058)
• Sp1 and the ets-related transcription factor complex GABP alpha/beta functionally cooperate to activate the utrophin promoter. (PMID:11997063)
• Drp1 and Mfn2, but not other proteins implicated in the regulation of mitochondrial morphology, colocalize with Bax in apoptotic foci (PMID:12499352)
• Utrophin up-regulation is regeneration-associated and is proportional to the quantity of regenerating myofibers, but is not specific for Duchenne muscular dystrophy. (PMID:12619170)
• regulation of promoter by Ets, Ap-1 and GATA factor families (PMID:12633873)
• increased expression of truncated cSHMT, Tbx3 and utrophin in plasma samples obtained from patients at early stages of ovarian cancer and breast cancer (PMID:16049973)
• Utrophin localisation is in human muscle.The A-utrophin on the sarcolemma of foetal human muscle fibres, regenerating fibres, fibres deficient in dystrophin and on blood vessels and neuromuscular junctions. B-utrophin is only detected on blood vessels. (PMID:16198105)
• 30 muscle biopsies of patients with Duchenne muscular dystrophy (DMD) showed all or majority of muscle fibers deficient for dystrophin and positive for utrophin. (PMID:16295426)
• Utrophin expression increases with age in DMD and there is a significant positive correlation between the quantity of utrophin at initial biopsy and time to becoming wheelchair-bound. (PMID:16595608)
• beside its known effect on general muscle protein degradation, calpain contributes to Duchenne muscular dystrophy pathology by specifically degrading the compensatory protein utrophin (PMID:16598790)
• Review. The role of utrophin in the assembly of the dystrophin glycoprotein complex in brain, blood-brain barrier & choroid plexus, retina, and kidney is discussed. (PMID:16710609)
• These studies suggest “repressing repressors” as a potential strategy for achieving utrophin up-regulation in Duchenne’s muscular dystrophy, and they provide a model for utrophin-A regulation in muscle. (PMID:17507653)
• specifically designed ZFPs can act as strong transcriptional activators of the utrophin A promoter (PMID:18945675)
• the 8th and 9th spectrin-like repeats (R8 and R9) of utrophin cooperatively form a PAR-1b-interacting domain, and that Ser1258 within R9 is specifically phosphorylated by PAR-1b. (PMID:19945424)
• Distribution of dystrophin- and utrophin-associated protein complexes during activation of human neutrophils. (PMID:20434517)
• The structural and functional properties of dystrophins and utrophins in brain, the consequences of dystrophins loss-of-function, are discussed. (PMID:20625423)
• These results indicate that Drp1-dependent mitochondrial positioning and activity controls T-cell activation by fuelling central supramolecular activation cluster assembly at the immune synapse. (PMID:21326213)
• EN1 might be a negative regulatory factor for UTROPHIN. (PMID:21482524)
• Homeobox protein engrailed-1 protein regulates transcription of the utrophin gene. (PMID:21672318)
• Examined the thermodynamic stability and aggregation of utrophin N-ABD and compared with that of dystrophin. Utrophin N-ABD has decreased denaturant and thermal stability, unfolds faster, and is correspondingly more susceptible to proteolysis. (PMID:22275054)
• UAPC located in caveolae and non-caveolae lipid raft domains of HUVECs may have a mechanosensory function that could participate in the control of eNOS activity (PMID:22609462)
• This family study showed that the 6q24.2 mircoduplication of the utrophin gene is a potential risk factor for the development of annular pancreas. (PMID:23163995)
• The present findings demonstrate that genotoxic stress in neurons results in p53-dependent declines in Drp1 and parkin levels contribute to altered mitochondrial morphology and cell death. (PMID:23345212)
• UtroUp recognises 18 base pairs of the utrophin promoter and efficiently drives utrophin upregulation. (PMID:23363418)
• this study demonstrated a pathway for Drp1 autophagic degradation. Chemical inhibition of lysosomal degradation and ATG7 knockdown increased Drp1 levels. (PMID:23937156)
• The actin binding affinity of the utrophin tandem calponin-homology domain (CH) is determined by its CH1 domain, when compared to its CH2 domain. (PMID:24628267)
• targeting Drp1-dependent mitochondrial dynamics may provide a novel strategy to suppress breast cancer metastasis and improve the chemotherapeutic effect in the future (PMID:25434519)
• there is an inverse correlation between the level of muscle fibrosis and the level of utrophin and that of the number of revertant myofibers in Duchenne muscular dystrophy (PMID:26015394)
• probed the role of N-terminal CH1 and C-terminal CH2 domains in the structure and function of dystrophin tandem CH domain and compared with earlier results on utrophin to understand the unifying principles of how tandem CH domains work (PMID:26516677)
• Correlation of Utrophin Levels with the Dystrophin Protein Complex and Muscle Fibre Regeneration in Duchenne and Becker Muscular Dystrophy Muscle Biopsies. (PMID:26974331)
• Knockdown of UTRN expression by shRNA evidently inhibited cell proliferation and promoted cell apoptosis in glioma cells. (PMID:27183436)
• findings demonstrate that Drp1-mediated mitochondrial fission plays a critical role in the regulation of cell cycle progression and hepatocellular carcinoma cell proliferation (PMID:27542250)
• clarify the role of Opa-1 and Drp-1 in mitochondrial dynamics and cell survival, a controversial alpha-synuclein research issue (PMID:29414102)
• In aortas of CKD rats and hippurate-treated rats, we observed an increase in Drp1 protein levels and mitochondrial fission. Inhibition of Drp1 improved endothelial function in both rat models. These results indicate that hippurate, by itself, can cause endothelial dysfunction. Increased mitochondrial fission plays an active role in hippurate-induced endothelial dysfunction via an increase in mitoROS (PMID:29573704)
• DRP-1 inhibition is a promising adjuvant for BH3 mimetics in melanoma treatment. (PMID:30185782)
• Exercise activates Sirt1-mediated Drp1 acetylation and inhibits hepatocyte apoptosis to improve nonalcoholic fatty liver disease. (PMID:36882837)
• Ischemia/reperfusion-induced MiD51 upregulation recruits Drp1 to mitochondria and contributes to myocardial injury. (PMID:37149986)
• Mitochondrial dynamics-related genes DRP1 and OPA1 contributes to early diagnosis of cognitive impairment in diabetes. (PMID:37563583)
• Exercise-induced circular RNA circUtrn is required for cardiac physiological hypertrophy and prevents myocardial ischaemia-reperfusion injury. (PMID:37897547)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	utrn	ENSDARG00000100222
		ENSDARG00000110192
mus_musculus	Utrn	ENSMUSG00000019820
rattus_norvegicus	Utrn	ENSRNOG00000011058

Paralogs (36): SYNE2 (ENSG00000054654), SPTB (ENSG00000070182), ACTN1 (ENSG00000072110), ACTN2 (ENSG00000077522), DSP (ENSG00000096696), DRP2 (ENSG00000102385), SPTBN1 (ENSG00000115306), MACF1 (ENSG00000127603), FLNC (ENSG00000128591), ACTN4 (ENSG00000130402), SYNE1 (ENSG00000131018), MICAL2 (ENSG00000133816), DTNA (ENSG00000134769), MICAL1 (ENSG00000135596), FLNB (ENSG00000136068), SPTBN5 (ENSG00000137877), DTNB (ENSG00000138101), GAS2L3 (ENSG00000139354), DST (ENSG00000151914), SPTBN4 (ENSG00000160460), SPTA1 (ENSG00000163554), CLMN (ENSG00000165959), PKHD1 (ENSG00000170927), SPTBN2 (ENSG00000173898), SYNE3 (ENSG00000176438), PLEC (ENSG00000178209), SMTNL2 (ENSG00000188176), FLNA (ENSG00000196924), SPTAN1 (ENSG00000197694), DMD (ENSG00000198947), PKHD1L1 (ENSG00000205038), DYTN (ENSG00000232125), MICAL3 (ENSG00000243156), ACTN3 (ENSG00000248746), EPPK1 (ENSG00000261150), GAS2L2 (ENSG00000270765)

Protein

Protein identifiers

Utrophin — P46939 (reviewed: P46939)

Alternative names: Dystrophin-related protein 1

All UniProt accessions (9): P46939, A0A0A0MSM3, A0A0D9SG57, H0Y337, Q5JT44, Q5JT45, Q5JT49, Q5T097, Q5T098

UniProt curated annotations — full annotation on UniProt →

Function. May play a role in anchoring the cytoskeleton to the plasma membrane.

Subunit / interactions. Homodimer. Interacts with the syntrophins SNTA1; SNTB1 and SNTB2. Interacts with SYNM. Interacts (via its WWW and ZZ domains) with DAG1 (via the PPXY motif of betaDAG1); the interaction is inhibited by the tyrosine phosphorylation of the PPXY motif of DAG1. Interacts with DTNB. Interacts with PGM5.

Subcellular location. Postsynaptic cell membrane. Cytoplasm. Cytoskeleton.

Tissue specificity. Isoform 1 has high expression in muscle. Isoforms Up70 and Up140 were found in all the adult and fetal tissues tested and relatively abundant in lung and kidney.

Domain organisation. Actin binding affinity is primarily determined by CH domain 1.

Miscellaneous. Produced by alternative promoter usage. =Produced by alternative promoter usage. =Produced by alternative promoter usage.

Isoforms (4)

UniProt ID	Names	Canonical?
P46939-1	1	yes
P46939-2	2
P46939-3	Up71
P46939-4	Up140

RefSeq proteins (2): NP_001362252, NP_009055* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000433	Znf_ZZ	Domain
IPR001202	WW_dom	Domain
IPR001589	Actinin_actin-bd_CS	Conserved_site
IPR001715	CH_dom	Domain
IPR002017	Spectrin_repeat	Repeat
IPR011992	EF-hand-dom_pair	Homologous_superfamily
IPR015153	EF-hand_dom_typ1	Domain
IPR015154	EF-hand_dom_typ2	Domain
IPR018159	Spectrin/alpha-actinin	Repeat
IPR035436	Dystrophin/utrophin	Family
IPR036020	WW_dom_sf	Homologous_superfamily
IPR036872	CH_dom_sf	Homologous_superfamily
IPR043145	Znf_ZZ_sf	Homologous_superfamily
IPR050774	KCMF1/Dystrophin	Family

Pfam: PF00307, PF00435, PF00569, PF09068, PF09069

UniProt features (70 total): repeat 22, helix 14, region of interest 6, modified residue 6, binding site 4, splice variant 4, sequence variant 4, domain 3, sequence conflict 2, turn 2, chain 1, zinc finger region 1, strand 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
1BHD	X-RAY DIFFRACTION	2
1QAG	X-RAY DIFFRACTION	3
6M5G	ELECTRON MICROSCOPY	3.6

Predicted structure (AlphaFold)

No AlphaFold model available for P46939 — 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.

Ligand- & substrate-binding residues (4): 3070; 3073; 3094; 3097

Post-translational modifications (6): 4, 10, 295, 2008, 2211, 3297

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-9619665	EGR2 and SOX10-mediated initiation of Schwann cell myelination
R-HSA-9913351	Formation of the dystrophin-glycoprotein complex (DGC)

MSigDB gene sets: 384 (showing top): GOBP_SODIUM_ION_TRANSMEMBRANE_TRANSPORT, GOZGIT_ESR1_TARGETS_DN, MORF_ATRX, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, MCBRYAN_PUBERTAL_TGFB1_TARGETS_UP, MORF_ESR1, MOLENAAR_TARGETS_OF_CCND1_AND_CDK4_UP, FOXD3_01, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_CELL_CELL_SIGNALING, GOBP_REGULATION_OF_SODIUM_ION_TRANSPORT, GOBP_POSITIVE_REGULATION_OF_CELL_ADHESION, GOBP_POSITIVE_REGULATION_OF_CELL_MATRIX_ADHESION

GO Biological Process (5): positive regulation of cell-matrix adhesion (GO:0001954), muscle contraction (GO:0006936), muscle organ development (GO:0007517), synaptic signaling (GO:0099536), regulation of sodium ion transmembrane transport (GO:1902305)

GO Molecular Function (8): actin binding (GO:0003779), integrin binding (GO:0005178), zinc ion binding (GO:0008270), vinculin binding (GO:0017166), protein kinase binding (GO:0019901), protein binding (GO:0005515), protein-containing complex binding (GO:0044877), metal ion binding (GO:0046872)

GO Cellular Component (19): nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), cytoskeleton (GO:0005856), plasma membrane (GO:0005886), cilium (GO:0005929), dystrophin-associated glycoprotein complex (GO:0016010), membrane (GO:0016020), filopodium (GO:0030175), filopodium membrane (GO:0031527), neuromuscular junction (GO:0031594), protein-containing complex (GO:0032991), ciliary basal body (GO:0036064), sarcolemma (GO:0042383), postsynaptic membrane (GO:0045211), extracellular exosome (GO:0070062), synapse (GO:0045202), contractile ring (GO:0070938), postsynapse (GO:0098794)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Nervous system development	1
Non-integrin membrane-ECM interactions	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	6
synapse	3
cytoskeletal protein binding	2
binding	2
regulation of cell-matrix adhesion	1
cell-matrix adhesion	1
positive regulation of cell-substrate adhesion	1
muscle system process	1
animal organ development	1
muscle structure development	1
cell-cell signaling	1
regulation of sodium ion transport	1
sodium ion transmembrane transport	1
regulation of monoatomic cation transmembrane transport	1
signaling receptor binding	1
protein-containing complex binding	1
cell adhesion molecule binding	1
transition metal ion binding	1
kinase binding	1
cation binding	1
nuclear lumen	1
intracellular anatomical structure	1
cytoplasm	1
intracellular membraneless organelle	1
membrane	1
cell periphery	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
glycoprotein complex	1
plasma membrane protein complex	1
actin-based cell projection	1
filopodium	1
cell projection membrane	1
cellular_component	1
microtubule organizing center	1
cilium	1
plasma membrane	1
synaptic membrane	1
postsynapse	1

Protein interactions and networks

STRING

1338 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
UTRN	DAG1	Q14118	997
UTRN	DMD	P11532	972
UTRN	SSPN	Q14714	952
UTRN	SNTB2	Q13425	928
UTRN	SGCA	Q16586	889
UTRN	RAPSN	Q13702	887
UTRN	AGRN	O00468	859
UTRN	SNTB1	Q13884	859
UTRN	SGCB	Q16585	840
UTRN	SNTA1	Q13424	837
UTRN	SGCD	Q92629	823
UTRN	MUSK	O15146	812
UTRN	SGCG	Q13326	806
UTRN	ITGA7	Q13683	756
UTRN	DYSF	O75923	746

IntAct

203 interactions, top by confidence:

A	B	Type	Score
RBM8A	CASC3	psi-mi:“MI:0914”(association)	0.900
MED4	MED19	psi-mi:“MI:2364”(proximity)	0.900
DTNB	DMD	psi-mi:“MI:0914”(association)	0.890
CTNNAL1	DMD	psi-mi:“MI:0914”(association)	0.880
ARRDC1	WWP2	psi-mi:“MI:0914”(association)	0.850
SCRIB	ADRA1D	psi-mi:“MI:0914”(association)	0.820
IFT70B	IFT56	psi-mi:“MI:0914”(association)	0.790
ADRA1D	UTRN	psi-mi:“MI:0914”(association)	0.770
ADRA1D	UTRN	psi-mi:“MI:0915”(physical association)	0.770
LRFN4	NCK2	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
RHPN1	PODXL	psi-mi:“MI:0914”(association)	0.690
UTRN	SNTB2	psi-mi:“MI:0915”(physical association)	0.670
SNTB2	CASK	psi-mi:“MI:0914”(association)	0.670
KCNJ2	KCNJ18	psi-mi:“MI:2364”(proximity)	0.660
E6	CASK	psi-mi:“MI:0915”(physical association)	0.660
E6	TAX1BP3	psi-mi:“MI:0914”(association)	0.650
CCT2	PPP6C	psi-mi:“MI:0914”(association)	0.640
DAG1	UTRN	psi-mi:“MI:0407”(direct interaction)	0.610
UTRN	DAG1	psi-mi:“MI:0915”(physical association)	0.610
UTRN	DAG1	psi-mi:“MI:0407”(direct interaction)	0.610
ADRA1D	LIN7A	psi-mi:“MI:0914”(association)	0.590
DTNA	UTRN	psi-mi:“MI:0407”(direct interaction)	0.590
SLC16A3	CASK	psi-mi:“MI:0914”(association)	0.590
UTRN	DTNA	psi-mi:“MI:0407”(direct interaction)	0.590
TNS2	YWHAB	psi-mi:“MI:2364”(proximity)	0.570

BioGRID (287): UTRN (Affinity Capture-MS), UTRN (Affinity Capture-MS), UTRN (Affinity Capture-MS), UTRN (Affinity Capture-MS), UTRN (Affinity Capture-MS), DTNA (Far Western), UTRN (Far Western), UTRN (Reconstituted Complex), DAG1 (Reconstituted Complex), UTRN (Reconstituted Complex), UTRN (Proximity Label-MS), UTRN (Proximity Label-MS), UTRN (Affinity Capture-MS), UTRN (Affinity Capture-MS), UTRN (Affinity Capture-MS)

ESM2 similar proteins: A0A8M2BID5, A0A8M9PQ61, A1Z7A6, D3ZHV2, E9Q557, F1LMV6, F1M0Z1, G3V7L1, O43150, O60229, O60437, O75962, O97592, O97902, P0CE94, P0CE95, P10911, P11530, P11531, P11532, P11533, P15924, P30427, P33175, P46939, Q03001, Q0KL02, Q15149, Q1AAU6, Q1LUA6, Q5GN48, Q6ZWR6, Q7SIG6, Q8CIS0, Q8NF91, Q8WXH0, Q91ZU6, Q92817, Q95RG8, Q9BXL7

Diamond homologs: A2CI97, A2CI98, A2CJ06, G3V7L1, O97592, P11530, P11531, P11532, P11533, P46939, Q05AA6, Q0KI50, Q13474, Q5GN48, Q7YU29, Q8NEG5, Q9EPA0, Q9TW65, Q9VDW3, Q9VDW6, Q9Y4J8, O60941, O70585, P84060, Q4U2R1, Q9D2N4, Q9VUX2, A5D7D1, D3ZEN0, D3ZHA0, D3ZHV2, D3ZQL6, E1BBG2, F1MF74, F1RA39, F6QZ15, G3MWR8, L7UZ85, M9MRD1, O13728

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
MARK2	up-regulates	UTRN	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 202 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
Formation of the dystrophin-glycoprotein complex (DGC)	9	22.6×	1e-07
Chaperonin-mediated protein folding	5	12.2×	6e-03
Defective CFTR causes cystic fibrosis	6	10.7×	3e-03
Protein folding	5	10.6×	7e-03
AUF1 (hnRNP D0) binds and destabilizes mRNA	5	10.1×	8e-03
SCF-beta-TrCP mediated degradation of Emi1	5	9.7×	8e-03
Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha	6	9.6×	5e-03
SPOP-mediated proteasomal degradation of PD-L1(CD274)	5	9.3×	9e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	474
Likely benign	40
Benign	79

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
3064920	NM_007124.3(UTRN):c.4134+1G>A	Likely pathogenic

SpliceAI

11143 predictions. Top by Δscore:

Variant	Effect	Δscore
6:144403114:A:AG	acceptor_gain	1.0000
6:144403115:T:G	acceptor_gain	1.0000
6:144403119:ACAG:A	acceptor_loss	1.0000
6:144403120:C:G	acceptor_gain	1.0000
6:144403121:A:AC	acceptor_loss	1.0000
6:144403121:A:AG	acceptor_gain	1.0000
6:144403121:AGAT:A	acceptor_gain	1.0000
6:144403122:G:GA	acceptor_gain	1.0000
6:144403122:G:T	acceptor_loss	1.0000
6:144403122:GA:G	acceptor_gain	1.0000
6:144403122:GAT:G	acceptor_gain	1.0000
6:144403122:GATG:G	acceptor_gain	1.0000
6:144421874:ACAG:A	acceptor_loss	1.0000
6:144421875:CA:C	acceptor_loss	1.0000
6:144421875:CAG:C	acceptor_gain	1.0000
6:144421876:A:AC	acceptor_loss	1.0000
6:144421876:A:AG	acceptor_gain	1.0000
6:144421876:AGA:A	acceptor_gain	1.0000
6:144421876:AGAGT:A	acceptor_gain	1.0000
6:144421877:G:C	acceptor_gain	1.0000
6:144421877:G:GG	acceptor_gain	1.0000
6:144421877:GA:G	acceptor_gain	1.0000
6:144421877:GAGT:G	acceptor_gain	1.0000
6:144421877:GAGTG:G	acceptor_gain	1.0000
6:144421969:TGG:T	donor_loss	1.0000
6:144421971:GTG:G	donor_loss	1.0000
6:144421972:T:G	donor_loss	1.0000
6:144422051:TGA:T	donor_gain	1.0000
6:144422053:A:T	donor_gain	1.0000
6:144423544:TCCA:T	acceptor_loss	1.0000

AlphaMissense

22837 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:144426416:T:A	W179R	1.000
6:144426416:T:C	W179R	1.000
6:144487615:T:C	L1297P	1.000
6:144771929:T:A	W2840R	1.000
6:144771929:T:C	W2840R	1.000
6:144771931:G:C	W2840C	1.000
6:144771931:G:T	W2840C	1.000
6:144774323:G:C	R2864P	1.000
6:144793944:T:C	F3011L	1.000
6:144793946:T:A	F3011L	1.000
6:144793946:T:G	F3011L	1.000
6:144793968:A:C	S3019R	1.000
6:144793970:T:A	S3019R	1.000
6:144793970:T:G	S3019R	1.000
6:144797866:T:A	W3041R	1.000
6:144797866:T:C	W3041R	1.000
6:144797896:T:A	W3051R	1.000
6:144797896:T:C	W3051R	1.000
6:144797915:G:C	R3057P	1.000
6:144797953:T:A	C3070S	1.000
6:144797953:T:C	C3070R	1.000
6:144797954:G:A	C3070Y	1.000
6:144797954:G:C	C3070S	1.000
6:144797954:G:T	C3070F	1.000
6:144797955:C:G	C3070W	1.000
6:144797962:T:C	C3073R	1.000
6:144797963:G:A	C3073Y	1.000
6:144797964:T:G	C3073W	1.000
6:144797984:G:A	G3080E	1.000
6:144797990:G:C	R3082T	1.000

dbSNP variants (sampled 300 via entrez): RS1000000211 (6:144704693 G>A), RS1000002287 (6:144569526 A>T), RS1000004341 (6:144399099 C>T), RS1000009780 (6:144504759 T>C), RS1000011364 (6:144408238 G>A), RS1000022812 (6:144662850 T>C), RS1000026302 (6:144793329 C>G), RS1000026598 (6:144839524 A>C,G), RS1000050580 (6:144495173 A>G), RS1000062758 (6:144777605 T>C), RS1000064574 (6:144749036 C>G,T), RS1000079353 (6:144655288 A>G), RS1000082696 (6:144445264 T>C), RS1000084411 (6:144306919 C>T), RS1000092683 (6:144640335 T>G)

Disease associations

OMIM: gene MIM:128240 | disease phenotypes: MIM:310200

GenCC curated gene-disease

Disease	Classification	Inheritance
schizophrenia	No Known Disease Relationship	Unknown

Mondo (2): Duchenne muscular dystrophy (MONDO:0010679), schizophrenia (MONDO:0005090)

Orphanet (1): Duchenne muscular dystrophy (Orphanet:98896)

HPO phenotypes

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

GWAS associations

13 associations (top):

Study	Trait	p-value
GCST003488_16	Response to fenofibrate (triglyceride levels)	8.000000e-06
GCST003773_7	Loneliness (multivariate analysis)	2.000000e-06
GCST004482_58	Peripheral arterial disease (traffic-related air pollution interaction)	1.000000e-07
GCST005115_1	Response to mepolizumab in severe asthma	1.000000e-06
GCST005833_3	Remission after SSRI treatment in MDD or openness	1.000000e-07
GCST005834_2	Response to SSRI in MDD or openness	5.000000e-07
GCST008512_18	Multisite chronic pain	8.000000e-09
GCST010002_337	Refractive error	6.000000e-10
GCST011712_3	Restless legs syndrome in migraine without aura	1.000000e-07
GCST012332_80	Multisite chronic pain	7.000000e-09
GCST012489_129	Heel bone mineral density x serum urate levels interaction	8.000000e-10
GCST012490_227	Femur bone mineral density x serum urate levels interaction	3.000000e-10
GCST90000047_128	Age at first sexual intercourse	4.000000e-08

EFO canonical traits (10, from GWAS)

EFO ID	Trait name
EFO:0007681	triglyceride change measurement
EFO:0007865	loneliness measurement
EFO:0007908	traffic air pollution measurement
EFO:0008459	response to mepolizumab
EFO:0005658	response to selective serotonin reuptake inhibitor
EFO:0007914	openness measurement
EFO:0010100	multisite chronic pain
EFO:0004531	urate measurement
EFO:0009270	heel bone mineral density
EFO:0009749	age at first sexual intercourse measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D020388	Muscular Dystrophy, Duchenne	C05.651.534.500.300; C10.668.491.175.500.300; C16.320.322.562; C16.320.577.300

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4523230 (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: 128 (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
CHEMBL1773683	EZUTROMID	2	128

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

ChEMBL bioactivities

69 potent at pChembl≥5 of 69 total, top 50 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
8.40	EC50	4	nM	CHEMBL4639067
8.00	EC50	10	nM	CHEMBL4639832
7.58	EC50	26	nM	CHEMBL4641041
7.47	EC50	34	nM	CHEMBL4645628
7.42	EC50	38	nM	CHEMBL4637833
7.21	EC50	62	nM	CHEMBL4647136
7.15	EC50	71	nM	CHEMBL4638445
7.15	EC50	71	nM	CHEMBL4643175
7.07	EC50	85	nM	CHEMBL4638708
6.97	EC50	108	nM	CHEMBL4634557
6.96	EC50	110	nM	EZUTROMID
6.96	EC50	110	nM	CHEMBL4636035
6.95	EC50	112	nM	CHEMBL4638463
6.93	EC50	118	nM	CHEMBL4633264
6.92	EC50	120	nM	CHEMBL4442951
6.91	EC50	124	nM	CHEMBL4638592
6.84	EC50	146	nM	CHEMBL4644129
6.83	EC50	148	nM	CHEMBL4637813
6.80	EC50	157	nM	CHEMBL4644346
6.80	EC50	157	nM	CHEMBL4762738
6.79	EC50	164	nM	CHEMBL4635899
6.79	EC50	163	nM	CHEMBL4633235
6.78	EC50	168	nM	CHEMBL4638950
6.73	EC50	187	nM	EZUTROMID
6.70	EC50	198	nM	CHEMBL4646007
6.63	EC50	234	nM	CHEMBL4636283
6.61	EC50	244	nM	CHEMBL4638592
6.61	EC50	244	nM	CHEMBL4645547
6.52	EC50	303	nM	CHEMBL4647847
6.51	EC50	309	nM	CHEMBL4796139
6.48	EC50	332	nM	CHEMBL4646025
6.43	EC50	370	nM	CHEMBL4550375
6.30	EC50	500	nM	CHEMBL4784420
6.29	EC50	510	nM	CHEMBL4755690
6.28	EC50	530	nM	CHEMBL4792864
6.26	EC50	548	nM	CHEMBL4640211
6.24	EC50	580	nM	CHEMBL4791949
6.17	EC50	677	nM	CHEMBL4798692
6.15	EC50	711	nM	CHEMBL4638592
6.12	EC50	766	nM	CHEMBL4648719
6.12	EC50	750	nM	CHEMBL4776156
6.11	EC50	777	nM	CHEMBL4633558
6.08	EC50	823	nM	CHEMBL4646039
6.08	EC50	826	nM	CHEMBL4633134
6.07	EC50	861	nM	CHEMBL4642259
6.05	EC50	890	nM	CHEMBL4791999
6.03	EC50	928	nM	CHEMBL4638605
5.94	EC50	1140	nM	CHEMBL4641107
5.94	EC50	1140	nM	CHEMBL4634003
5.92	EC50	1190	nM	CHEMBL4634760

PubChem BioAssay actives

69 with measured affinity, of 89 total; 50 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
5-[ethyl(methoxy)phosphoryl]-2-naphthalen-2-yl-1,3-benzoxazole	1660788: Modulation of human utrophinA expressed in mouse H2K cells assessed as upregulation of utrophin production after 24 hrs by luciferase reporter gene assay	ec50	0.0040	uM
N-(2-naphthalen-2-yl-1,3-benzoxazol-5-yl)acetamide	1660788: Modulation of human utrophinA expressed in mouse H2K cells assessed as upregulation of utrophin production after 24 hrs by luciferase reporter gene assay	ec50	0.0100	uM
5-[ethoxy(ethyl)phosphoryl]-2-naphthalen-2-yl-1,3-benzoxazole	1660788: Modulation of human utrophinA expressed in mouse H2K cells assessed as upregulation of utrophin production after 24 hrs by luciferase reporter gene assay	ec50	0.0260	uM
5-[methoxy(propan-2-yl)phosphoryl]-2-naphthalen-2-yl-1,3-benzoxazole	1660788: Modulation of human utrophinA expressed in mouse H2K cells assessed as upregulation of utrophin production after 24 hrs by luciferase reporter gene assay	ec50	0.0340	uM
2-methyl-N-(2-naphthalen-2-yl-1,3-benzoxazol-5-yl)propanamide	1660788: Modulation of human utrophinA expressed in mouse H2K cells assessed as upregulation of utrophin production after 24 hrs by luciferase reporter gene assay	ec50	0.0380	uM
5-[ethyl(methoxy)phosphoryl]-2-quinolin-3-yl-1,3-benzoxazole	1660788: Modulation of human utrophinA expressed in mouse H2K cells assessed as upregulation of utrophin production after 24 hrs by luciferase reporter gene assay	ec50	0.0620	uM
6-[ethyl(methoxy)phosphoryl]-2-naphthalen-2-yl-1,3-benzoxazole	1660788: Modulation of human utrophinA expressed in mouse H2K cells assessed as upregulation of utrophin production after 24 hrs by luciferase reporter gene assay	ec50	0.0710	uM
6-[ethyl(methoxy)phosphoryl]-2-quinolin-3-yl-1,3-benzoxazole	1660788: Modulation of human utrophinA expressed in mouse H2K cells assessed as upregulation of utrophin production after 24 hrs by luciferase reporter gene assay	ec50	0.0710	uM
6-[ethyl(methoxy)phosphoryl]-2-quinolin-6-yl-1,3-benzoxazole	1660788: Modulation of human utrophinA expressed in mouse H2K cells assessed as upregulation of utrophin production after 24 hrs by luciferase reporter gene assay	ec50	0.0850	uM
6-[ethoxy(ethyl)phosphoryl]-2-naphthalen-2-yl-1,3-benzoxazole	1660788: Modulation of human utrophinA expressed in mouse H2K cells assessed as upregulation of utrophin production after 24 hrs by luciferase reporter gene assay	ec50	0.1080	uM
5-ethylsulfonyl-2-naphthalen-2-yl-1,3-benzoxazole	1580310: Activation of human utrophin-1 in mouse mdx myoblasts by H2K-mdx utrnA-luc assay	ec50	0.1100	uM
2-(2-naphthalen-2-yl-1,3-benzoxazol-5-yl)-1,2-thiazolidine 1,1-dioxide	1660788: Modulation of human utrophinA expressed in mouse H2K cells assessed as upregulation of utrophin production after 24 hrs by luciferase reporter gene assay	ec50	0.1100	uM
2-(4-chlorophenyl)-5-[ethyl(methoxy)phosphoryl]-1,3-benzoxazole	1660788: Modulation of human utrophinA expressed in mouse H2K cells assessed as upregulation of utrophin production after 24 hrs by luciferase reporter gene assay	ec50	0.1120	uM
2-(3,4-dichlorophenyl)-5-[ethyl(methoxy)phosphoryl]-1,3-benzoxazole	1660788: Modulation of human utrophinA expressed in mouse H2K cells assessed as upregulation of utrophin production after 24 hrs by luciferase reporter gene assay	ec50	0.1180	uM
(1R,2R)-7-(5-ethylsulfonyl-1,3-benzoxazol-2-yl)-1,2-dihydronaphthalene-1,2-diol	1580310: Activation of human utrophin-1 in mouse mdx myoblasts by H2K-mdx utrnA-luc assay	ec50	0.1200	uM
5-[ethyl(methoxy)phosphoryl]-2-(4-fluorophenyl)-1,3-benzoxazole	1660788: Modulation of human utrophinA expressed in mouse H2K cells assessed as upregulation of utrophin production after 24 hrs by luciferase reporter gene assay	ec50	0.1240	uM
N-methyl-2-naphthalen-2-yl-1,3-benzoxazole-5-sulfonamide	1660788: Modulation of human utrophinA expressed in mouse H2K cells assessed as upregulation of utrophin production after 24 hrs by luciferase reporter gene assay	ec50	0.1460	uM
5-[tert-butyl(methoxy)phosphoryl]-2-naphthalen-2-yl-1,3-benzoxazole	1660788: Modulation of human utrophinA expressed in mouse H2K cells assessed as upregulation of utrophin production after 24 hrs by luciferase reporter gene assay	ec50	0.1480	uM
5-[ethyl(methoxy)phosphoryl]-2-quinolin-7-yl-1,3-benzoxazole	1660788: Modulation of human utrophinA expressed in mouse H2K cells assessed as upregulation of utrophin production after 24 hrs by luciferase reporter gene assay	ec50	0.1570	uM
5-[ethyl(methoxy)phosphoryl]-2-(3-methoxyphenyl)-1,3-benzoxazole	1726204: Modulation of human utrophinA expressed in mouse H2K-mdx utrnA-luc cells assessed as upregulation of utrophin production after 24 hrs by luciferase reporter gene assay	ec50	0.1570	uM
5-[ethyl(methoxy)phosphoryl]-2-[(E)-2-phenylethenyl]-1,3-benzoxazole	1660788: Modulation of human utrophinA expressed in mouse H2K cells assessed as upregulation of utrophin production after 24 hrs by luciferase reporter gene assay	ec50	0.1630	uM
5-[ethyl(methoxy)phosphoryl]-2-quinolin-6-yl-1,3-benzoxazole	1660788: Modulation of human utrophinA expressed in mouse H2K cells assessed as upregulation of utrophin production after 24 hrs by luciferase reporter gene assay	ec50	0.1640	uM
2-(5-chlorothiophen-2-yl)-5-[ethyl(methoxy)phosphoryl]-1,3-benzoxazole	1660788: Modulation of human utrophinA expressed in mouse H2K cells assessed as upregulation of utrophin production after 24 hrs by luciferase reporter gene assay	ec50	0.1680	uM
2-(3-chloro-2-fluorophenyl)-5-[ethyl(methoxy)phosphoryl]-1,3-benzoxazole	1660788: Modulation of human utrophinA expressed in mouse H2K cells assessed as upregulation of utrophin production after 24 hrs by luciferase reporter gene assay	ec50	0.1980	uM
6-[methoxy(propan-2-yl)phosphoryl]-2-naphthalen-2-yl-1,3-benzoxazole	1660788: Modulation of human utrophinA expressed in mouse H2K cells assessed as upregulation of utrophin production after 24 hrs by luciferase reporter gene assay	ec50	0.2340	uM
2-(2,3-dichlorophenyl)-5-[ethyl(methoxy)phosphoryl]-1,3-benzoxazole	1660788: Modulation of human utrophinA expressed in mouse H2K cells assessed as upregulation of utrophin production after 24 hrs by luciferase reporter gene assay	ec50	0.2440	uM
2-(4-fluorophenyl)-5-[methoxy(propan-2-yl)phosphoryl]-1,3-benzoxazole	1660788: Modulation of human utrophinA expressed in mouse H2K cells assessed as upregulation of utrophin production after 24 hrs by luciferase reporter gene assay	ec50	0.3030	uM
2-[2-(difluoromethoxy)-4-pyridinyl]-5-[ethyl(methoxy)phosphoryl]-1,3-benzoxazole	1726204: Modulation of human utrophinA expressed in mouse H2K-mdx utrnA-luc cells assessed as upregulation of utrophin production after 24 hrs by luciferase reporter gene assay	ec50	0.3090	uM
5-[ethyl(methoxy)phosphoryl]-2-isoquinolin-7-yl-1,3-benzoxazole	1660788: Modulation of human utrophinA expressed in mouse H2K cells assessed as upregulation of utrophin production after 24 hrs by luciferase reporter gene assay	ec50	0.3320	uM
(1S,2S)-6-(5-ethylsulfonyl-1,3-benzoxazol-2-yl)-1,2-dihydronaphthalene-1,2-diol	1580310: Activation of human utrophin-1 in mouse mdx myoblasts by H2K-mdx utrnA-luc assay	ec50	0.3700	uM
2-[2-(difluoromethyl)phenyl]-6-[ethyl(methoxy)phosphoryl]-1,3-benzoxazole	1726204: Modulation of human utrophinA expressed in mouse H2K-mdx utrnA-luc cells assessed as upregulation of utrophin production after 24 hrs by luciferase reporter gene assay	ec50	0.5000	uM
5-[ethyl(methoxy)phosphoryl]-2-(4-methoxyphenyl)-1,3-benzoxazole	1726204: Modulation of human utrophinA expressed in mouse H2K-mdx utrnA-luc cells assessed as upregulation of utrophin production after 24 hrs by luciferase reporter gene assay	ec50	0.5100	uM
2-(2,2-difluoro-1,3-benzodioxol-5-yl)-5-[ethyl(methoxy)phosphoryl]-1,3-benzoxazole	1726204: Modulation of human utrophinA expressed in mouse H2K-mdx utrnA-luc cells assessed as upregulation of utrophin production after 24 hrs by luciferase reporter gene assay	ec50	0.5300	uM
5-[ethyl(methoxy)phosphoryl]-2-[4-(trifluoromethyl)phenyl]-1,3-benzoxazole	1660788: Modulation of human utrophinA expressed in mouse H2K cells assessed as upregulation of utrophin production after 24 hrs by luciferase reporter gene assay	ec50	0.5480	uM
2-[2-(difluoromethyl)-4-fluorophenyl]-5-[ethyl(methoxy)phosphoryl]-1,3-benzoxazole	1726204: Modulation of human utrophinA expressed in mouse H2K-mdx utrnA-luc cells assessed as upregulation of utrophin production after 24 hrs by luciferase reporter gene assay	ec50	0.5800	uM
2-[3-(difluoromethoxy)phenyl]-5-[ethyl(methoxy)phosphoryl]-1,3-benzoxazole	1726204: Modulation of human utrophinA expressed in mouse H2K-mdx utrnA-luc cells assessed as upregulation of utrophin production after 24 hrs by luciferase reporter gene assay	ec50	0.6770	uM
2-[4-(difluoromethyl)phenyl]-5-[ethyl(methoxy)phosphoryl]-1,3-benzoxazole	1726204: Modulation of human utrophinA expressed in mouse H2K-mdx utrnA-luc cells assessed as upregulation of utrophin production after 24 hrs by luciferase reporter gene assay	ec50	0.7500	uM
6-[ethyl(methoxy)phosphoryl]-2-[(E)-2-phenylethenyl]-1,3-benzoxazole	1660788: Modulation of human utrophinA expressed in mouse H2K cells assessed as upregulation of utrophin production after 24 hrs by luciferase reporter gene assay	ec50	0.7660	uM
2-(2,4-difluorophenyl)-5-[ethyl(methoxy)phosphoryl]-1,3-benzoxazole	1660788: Modulation of human utrophinA expressed in mouse H2K cells assessed as upregulation of utrophin production after 24 hrs by luciferase reporter gene assay	ec50	0.7770	uM
5-[ethyl(methoxy)phosphoryl]-2-(3-fluorophenyl)-1,3-benzoxazole	1660788: Modulation of human utrophinA expressed in mouse H2K cells assessed as upregulation of utrophin production after 24 hrs by luciferase reporter gene assay	ec50	0.8230	uM
2-(4-fluorophenyl)-5-[methoxy(phenyl)phosphoryl]-1,3-benzoxazole	1660788: Modulation of human utrophinA expressed in mouse H2K cells assessed as upregulation of utrophin production after 24 hrs by luciferase reporter gene assay	ec50	0.8260	uM
5-[ethyl(methoxy)phosphoryl]-2-[2-(trifluoromethyl)phenyl]-1,3-benzoxazole	1660788: Modulation of human utrophinA expressed in mouse H2K cells assessed as upregulation of utrophin production after 24 hrs by luciferase reporter gene assay	ec50	0.8610	uM
2-[3-(difluoromethyl)phenyl]-5-[ethyl(methoxy)phosphoryl]-1,3-benzoxazole	1726204: Modulation of human utrophinA expressed in mouse H2K-mdx utrnA-luc cells assessed as upregulation of utrophin production after 24 hrs by luciferase reporter gene assay	ec50	0.8900	uM
6-[ethyl(methoxy)phosphoryl]-2-quinolin-7-yl-1,3-benzoxazole	1660788: Modulation of human utrophinA expressed in mouse H2K cells assessed as upregulation of utrophin production after 24 hrs by luciferase reporter gene assay	ec50	0.9280	uM
6-[ethyl(methoxy)phosphoryl]-2-isoquinolin-7-yl-1,3-benzoxazole	1660788: Modulation of human utrophinA expressed in mouse H2K cells assessed as upregulation of utrophin production after 24 hrs by luciferase reporter gene assay	ec50	1.1400	uM
5-[ethyl(methoxy)phosphoryl]-2-isoquinolin-6-yl-1,3-benzoxazole	1660788: Modulation of human utrophinA expressed in mouse H2K cells assessed as upregulation of utrophin production after 24 hrs by luciferase reporter gene assay	ec50	1.1400	uM
4-[ethyl(methoxy)phosphoryl]-2-(4-fluorophenyl)-1,3-benzoxazole	1660788: Modulation of human utrophinA expressed in mouse H2K cells assessed as upregulation of utrophin production after 24 hrs by luciferase reporter gene assay	ec50	1.1900	uM
6-[ethyl(methoxy)phosphoryl]-2-(4-fluorophenyl)-1,3-benzoxazole	1660788: Modulation of human utrophinA expressed in mouse H2K cells assessed as upregulation of utrophin production after 24 hrs by luciferase reporter gene assay	ec50	1.2300	uM
5-[ethoxy(ethyl)phosphoryl]-2-(4-fluorophenyl)-1,3-benzoxazole	1660788: Modulation of human utrophinA expressed in mouse H2K cells assessed as upregulation of utrophin production after 24 hrs by luciferase reporter gene assay	ec50	1.2500	uM
2-[2-(difluoromethyl)phenyl]-5-[ethyl(methoxy)phosphoryl]-1,3-benzoxazole	1726204: Modulation of human utrophinA expressed in mouse H2K-mdx utrnA-luc cells assessed as upregulation of utrophin production after 24 hrs by luciferase reporter gene assay	ec50	1.2600	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression, increases mutagenesis	5
Valproic Acid	affects cotreatment, increases expression, affects expression	5
trichostatin A	affects cotreatment, increases expression	3
bisphenol A	decreases methylation, increases expression	2
potassium chromate(VI)	affects cotreatment, decreases expression	2
bisphenol S	decreases methylation, increases expression	2
Air Pollutants	affects expression, increases abundance, increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Tetrachlorodibenzodioxin	decreases expression	2
Tobacco Smoke Pollution	decreases expression	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	2
Cyclosporine	decreases expression, increases expression	2
Aflatoxin B1	decreases expression, increases methylation	2
Magnetite Nanoparticles	decreases methylation, affects cotreatment, increases expression	2
aristolochic acid I	decreases expression	1
dicrotophos	increases expression	1
triphenyl phosphate	affects expression	1
kaempferol	increases expression	1
methylselenic acid	decreases expression	1
piperine	increases expression	1
kavain	increases expression	1
hesperetin	increases expression	1
mono-(2-ethylhexyl)phthalate	increases expression	1
zinc chloride	affects binding	1
sodium arsenite	affects cotreatment, decreases expression, increases abundance	1
butyraldehyde	decreases expression	1
manganese chloride	decreases expression, increases abundance, affects cotreatment	1
cupric oxide	decreases expression	1
chrysin	increases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression, increases expression	1

ChEMBL screening assays

5 unique, capped per target: 3 binding, 2 admet

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL4335413	Binding	Binding affinity to UTRO in human Huh7.5.1 cell lysate infected with HCV at 0.1 to 10 uM incubated for 1 hr followed by 10000 mJ/cm2 UV irradiation for 10 mins and subsequent addition of biotin-N3 measured after 1 hr by ABPP Gel-based by LC	Discovery, Optimization, and Target Identification of Novel Potent Broad-Spectrum Antiviral Inhibitors. — J Med Chem
CHEMBL4378667	ADMET	Activation of human utrophin-1 in mouse mdx myoblasts by H2K-mdx utrnA-luc assay	Isolation, Structural Identification, Synthesis, and Pharmacological Profiling of 1,2-trans-Dihydro-1,2-diol Metabolites of the Utrophin Modulator Ezutromid. — J Med Chem

Cellosaurus cell lines

4 cell lines: 4 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_TX18	HAP1 UTRN (-) 1	Cancer cell line	Male
CVCL_TX19	HAP1 UTRN (-) 2	Cancer cell line	Male
CVCL_TX20	HAP1 UTRN (-) 3	Cancer cell line	Male
CVCL_TX21	HAP1 UTRN (-) 4	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00000374	PHASE4	COMPLETED	Treatment for First-Episode Schizophrenia
NCT00001656	PHASE4	COMPLETED	Comparison of Clozapine vs Olanzapine in Childhood-Onset Psychotic Disorders
NCT00007774	PHASE4	COMPLETED	To Determine if Olanzapine is More Cost Effective Than Haloperidol for the Treatment of Schizophrenia
NCT00014001	PHASE4	COMPLETED	CATIE- Schizophrenia Trial
NCT00018668	PHASE4	COMPLETED	Antipsychotic Response in Schizophrenia
NCT00034801	PHASE4	COMPLETED	Olanzapine Versus Active Comparator in the Treatment of Depression in Patients With Schizophrenia
NCT00034905	PHASE4	COMPLETED	A Comparison of Seroquel vs. Risperidone in Schizophrenia
NCT00036088	PHASE4	COMPLETED	Olanzapine Versus An Active Comparator in the Treatment of Schizophrenia
NCT00044187	PHASE4	COMPLETED	The Assessment of a Weight-Gain Agent for the Treatment of Olanzapine-Associated Anti-Obesity Agent in Patients With Schizophrenia, Schizophreniform Disorder, Schizoaffective Disorder, and Bipolar I Disorder
NCT00044655	PHASE4	COMPLETED	Switching Medication to Treat Schizophrenia
NCT00048828	PHASE4	COMPLETED	Treating Drug-Resistant Childhood Schizophrenia
NCT00053703	PHASE4	COMPLETED	Treatment of Early Onset Schizophrenia Spectrum Disorders (TEOSS)
NCT00056498	PHASE4	COMPLETED	Risperidone Treatment in Schizophrenia Patients Who Are Currently Taking Clozapine
NCT00061802	PHASE4	COMPLETED	Efficacy and Safety of Two Atypical Antipsychotics vs. Placebo in Patients With an Acute Exacerbation of Either Schizophrenia or Schizoaffective Disorder
NCT00080327	PHASE4	COMPLETED	Study of Three Doses of Aripiprazole in Patients With Acute Schizophrenia
NCT00088049	PHASE4	COMPLETED	Study of Olanzapine vs. Aripiprazole in the Treatment of Schizophrenia
NCT00090012	PHASE4	COMPLETED	Comparison of Continuing Olanzapine to Switching to Quetiapine in Overweight or Obese Patients With Schizophrenia and Schizoaffective Disorder
NCT00100776	PHASE4	COMPLETED	Efficacy of High Dose Olanzapine for the Treatment of Schizophrenia and Schizoaffective Disorder
NCT00103571	PHASE4	COMPLETED	Olanzapine Versus Aripiprazole in the Treatment of Acutely Ill Patients With Schizophrenia
NCT00108368	PHASE4	COMPLETED	The Effects of Risperidone and Olanzapine on Thinking
NCT00114595	PHASE4	COMPLETED	Ethyl-Eicosapentaenoic Acid and Tardive Dyskinesia
NCT00130923	PHASE4	COMPLETED	Risperidone Long-acting Versus Oral Risperidone in Patients With Schizophrenia and Alcohol Use Disorder
NCT00137020	PHASE4	COMPLETED	Clinical Effect Of Cross Titration Of Antipsychotics With Ziprasidone In Schizophrenia Or Schizoaffective Disorder
NCT00140166	PHASE4	COMPLETED	Treatment of Acute Schizophrenia With Vitamin Therapy
NCT00145847	PHASE4	COMPLETED	Naltrexone Treatment of Alcohol Abuse in Schizophrenia
NCT00148564	PHASE4	COMPLETED	Energy Homeostasis Under Treatment With Atypical Antipsychotics
NCT00156715	PHASE4	COMPLETED	Efficacy of Quetiapine in the Treatment of Patients With Schizophrenia and a Comorbid Substance Use Disorder
NCT00158223	PHASE4	COMPLETED	Effectiveness of Pimozide in Augmenting the Effects of Clozapine in the Treatment of Schizophrenia
NCT00159081	PHASE4	COMPLETED	One Year Drug Treatment in First-Episode Schizophrenia
NCT00159120	PHASE4	COMPLETED	Maintenance Treatment vs. Stepwise Drug Discontinuation in First-Episode Schizophrenia
NCT00159133	PHASE4	COMPLETED	Prodrome-Based Early Intervention With Antipsychotics vs. Benzodiazepines in First-Episode Schizophrenia
NCT00159757	PHASE4	TERMINATED	12 Week Open, Non-Comparative Switch Study Of Oral Ziprazidone In Previously Treated Schizophrenic Patients
NCT00167817	PHASE4	COMPLETED	Effect of Switch to Aripiprazole on Health and Smoking Parameters in Patients With Schizophrenia: A Pilot Study
NCT00169026	PHASE4	TERMINATED	Alcoholism and Schizophrenia: Effects of Clozapine
NCT00169039	PHASE4	TERMINATED	Clozapine Versus Chlorpromazine for Treatment-Unresponsive Schizophrenia
NCT00169065	PHASE4	COMPLETED	Effectiveness of Clozapine Versus Olanzapine for Treatment-resistant Schizophrenia
NCT00169091	PHASE4	TERMINATED	Clozapine Versus Haloperidol for Treating the First Episode of Schizophrenia
NCT00176423	PHASE4	COMPLETED	Efficacy Study of Galantamine for Cognitive Impairments in Schizophrenia
NCT00176436	PHASE4	COMPLETED	Atomoxetine for Treatment of Weight Gain in Olanzapine or Clozapine Patients
NCT00177008	PHASE4	COMPLETED	Aripiprazole for the Treatment of Schizophrenia With Co-Morbid Social Anxiety