XIRP2

Summary

XIRP2 (xin actin binding repeat containing 2, HGNC:14303) is a protein-coding gene on chromosome 2q24.3, encoding Xin actin-binding repeat-containing protein 2 (A4UGR9). Protects actin filaments from depolymerization.

Enables actin filament binding activity. Predicted to be involved in actin filament organization and regulation of actin filament organization. Predicted to act upstream of or within cardiac muscle tissue morphogenesis; cell-cell junction organization; and ventricular septum development. Located in focal adhesion and stress fiber. Implicated in depressive disorder.

Source: NCBI Gene 129446 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 724 total
• Phenotypes (HPO): 1
• MANE Select transcript: NM_152381

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14303
Approved symbol	XIRP2
Name	xin actin binding repeat containing 2
Location	2q24.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000163092
Ensembl biotype	protein_coding
OMIM	609778
Entrez	129446

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 8 protein_coding, 1 retained_intron

ENST00000409043, ENST00000409195, ENST00000409273, ENST00000409605, ENST00000409728, ENST00000628543, ENST00000672277, ENST00000672671, ENST00000672716

RefSeq mRNA: 5 — MANE Select: NM_152381 NM_001079810, NM_001199143, NM_001199144, NM_001199145, NM_152381

CCDS: CCDS42768, CCDS42769, CCDS56143, CCDS56144, CCDS56145

Canonical transcript exons

ENST00000409195 — 11 exons

Exon	Start	End
ENSE00000000295	166888480	166888557
ENSE00001276753	167242569	167251947
ENSE00001299302	167135909	167136062
ENSE00001300610	167239855	167239965
ENSE00001317162	167241777	167241910
ENSE00001320657	167240664	167240736
ENSE00001324449	167218166	167218300
ENSE00001580025	166903465	166903890
ENSE00003591481	167210735	167210895
ENSE00003607800	167254032	167254165
ENSE00003901999	167257857	167259753

Expression profiles

Bgee: expression breadth ubiquitous, 150 present calls, max score 99.92.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 5.4002 / max 2598.6808, expressed in 77 samples.

FANTOM5 promoters (45 alternative TSS)

Promoter ID	TPM avg	Samples expressed
23450	3.6872	55
23449	0.3343	32
23494	0.1189	18
23490	0.1046	20
23480	0.0815	17
23472	0.0757	17
23498	0.0745	18
23482	0.0703	14
23477	0.0638	11
23481	0.0505	12

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
deltoid	UBERON:0001476	99.92	gold quality
biceps brachii	UBERON:0001507	99.86	gold quality
quadriceps femoris	UBERON:0001377	99.85	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	99.85	gold quality
vastus lateralis	UBERON:0001379	99.84	gold quality
tibialis anterior	UBERON:0001385	99.84	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	99.82	gold quality
skeletal muscle tissue	UBERON:0001134	99.69	gold quality
left ventricle myocardium	UBERON:0006566	99.68	gold quality
body of tongue	UBERON:0011876	99.48	gold quality
hindlimb stylopod muscle	UBERON:0004252	99.45	gold quality
heart right ventricle	UBERON:0002080	99.27	gold quality
gastrocnemius	UBERON:0001388	99.26	gold quality
myocardium	UBERON:0002349	98.25	gold quality
apex of heart	UBERON:0002098	98.08	gold quality
muscle organ	UBERON:0001630	97.90	gold quality
skeletal muscle organ	UBERON:0014892	97.90	gold quality
muscle of leg	UBERON:0001383	97.39	gold quality
cardiac muscle of right atrium	UBERON:0003379	96.30	gold quality
cardiac ventricle	UBERON:0002082	96.25	gold quality
heart left ventricle	UBERON:0002084	96.18	gold quality
tongue	UBERON:0001723	93.25	gold quality
muscle tissue	UBERON:0002385	93.25	gold quality
heart	UBERON:0000948	87.56	gold quality
cardiac atrium	UBERON:0002081	86.37	gold quality
right atrium auricular region	UBERON:0006631	85.72	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	84.33	silver quality
superior surface of tongue	UBERON:0007371	83.95	gold quality
pharyngeal mucosa	UBERON:0000355	82.44	gold quality
larynx	UBERON:0001737	82.35	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-MTAB-11268	no	1929.05
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): MEF2A

miRNA regulators (miRDB)

99 targeting XIRP2, 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-4795-3P	100.00	74.62	4024
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-3912-5P	99.95	66.11	925
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-767-5P	99.95	70.85	993
HSA-MIR-144-3P	99.94	73.98	2698
HSA-MIR-1236-3P	99.94	68.04	1695
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-4760-3P	99.93	70.50	2385
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-145-5P	99.92	71.13	1836
HSA-MIR-5195-3P	99.92	70.92	1877
HSA-MIR-589-3P	99.91	69.62	2088
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-374B-5P	99.90	69.98	2734
HSA-MIR-106A-5P	99.90	73.94	2683
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-6499-3P	99.90	66.38	1212
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-17-5P	99.89	73.83	2665
HSA-MIR-106B-5P	99.88	74.72	2795
HSA-MIR-20B-5P	99.88	74.01	2621
HSA-MIR-519D-3P	99.88	73.97	2607
HSA-MIR-526B-3P	99.88	74.06	2587

Literature-anchored findings (GeneRIF, showing 4)

• Xin and XIRP2 define a novel actin-binding motif (PMID:15454575)
• Genetic information from this patient implies that genes involved in development and maintenance of extraocular muscles can cause congenital ocular motility disorders as well. (PMID:24475916)
• A genome-wide association study reveals 2 new susceptibility loci for atopic dermatitis, XIRP2 and DMRTA1. (PMID:25865352)
• Report pathogenic XIRP1/2 rare variants in arrhythmogenic disorders such as sudden unexplained nocturnal death syndrome and Brugada syndrome. (PMID:29306897)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Xirp2	ENSMUSG00000027022
rattus_norvegicus	Xirp2	ENSRNOG00000034258

Paralogs (1): XIRP1 (ENSG00000168334)

Protein

Protein identifiers

Xin actin-binding repeat-containing protein 2 — A4UGR9 (reviewed: A4UGR9)

Alternative names: Beta-xin, Cardiomyopathy-associated protein 3, Xeplin

All UniProt accessions (3): A0A5F9ZH43, A0A5F9ZHW6, A4UGR9

UniProt curated annotations — full annotation on UniProt →

Function. Protects actin filaments from depolymerization. Required for correct morphology of cell membranes and maturation of intercalated disks of cardiomyocytes via facilitating localization of XIRP1 and CDH2 to the termini of aligned mature cardiomyocytes. Thereby required for correct postnatal heart development and growth regulation that is crucial for overall heart morphology and diastolic function. Required for normal electrical conduction in the heart including formation of the infranodal ventricular conduction system and normal action potential configuration, as a result of its interaction with the cardiac ion channel components Scn5a/Nav1.5 and Kcna5/Kv1.5. Required for regular actin filament spacing of the paracrystalline array in both inner and outer hair cells of the cochlea, thereby required for maintenance of stereocilia morphology.

Subunit / interactions. Interacts with ACTN2. Interacts with F-actin. Interacts with NEBL (via SH3 domain). Interacts with Kcna5/Kv1.5 and Scn5a/Nav1.5; the interactions are required for normal action potential configuration in the heart.

Subcellular location. Cell junction.

Tissue specificity. Expressed in skeletal muscle at areas of Z-disk disruption in a longitudinal pattern spanning one or more sarcomeres (at protein level). Weakly expressed in mature myofibrils (at protein level). Expressed in the blood.

Domain organisation. Xin repeats bind F-actin.

Miscellaneous. ‘Xin’ means ‘heart’ in Chinese.

Similarity. Belongs to the Xin family.

Isoforms (8)

UniProt ID	Names	Canonical?
A4UGR9-1	1	yes
A4UGR9-2	2
A4UGR9-3	3
A4UGR9-4	4
A4UGR9-5	5
A4UGR9-6	6
A4UGR9-7	7
A4UGR9-8	8

RefSeq proteins (5): NP_001073278, NP_001186072, NP_001186073, NP_001186074, NP_689594* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR012510	Actin-binding_Xin_repeat	Repeat
IPR030072	XIRP1/XIRP2	Family

Pfam: PF08043

UniProt features (123 total): sequence variant 32, repeat 28, sequence conflict 17, compositionally biased region 15, modified residue 11, region of interest 8, splice variant 7, coiled-coil region 4, chain 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
4F14	X-RAY DIFFRACTION	1.2

Predicted structure (AlphaFold)

No AlphaFold model available for A4UGR9 — 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 (11): 621, 868, 1265, 1629, 1989, 1994, 2222, 2276, 2318, 3059, 3297

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-9662360	Sensory processing of sound by inner hair cells of the cochlea
R-HSA-9662361	Sensory processing of sound by outer hair cells of the cochlea

MSigDB gene sets: 97 (showing top): GOBP_CARDIAC_CHAMBER_DEVELOPMENT, LI_CISPLATIN_RESISTANCE_DN, GOBP_MUSCLE_TISSUE_DEVELOPMENT, GOBP_CARDIAC_SEPTUM_DEVELOPMENT, GOBP_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION, GOBP_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, GOBP_CELL_JUNCTION_ORGANIZATION, GOBP_MUSCLE_STRUCTURE_DEVELOPMENT, GOBP_HEART_MORPHOGENESIS, GOBP_ACTIN_FILAMENT_ORGANIZATION, chr2q24, GOBP_CARDIAC_MUSCLE_TISSUE_MORPHOGENESIS, GOBP_MUSCLE_ORGAN_MORPHOGENESIS, GOBP_CARDIAC_VENTRICLE_DEVELOPMENT

GO Biological Process (7): ventricular septum development (GO:0003281), actin filament organization (GO:0007015), cell-cell junction organization (GO:0045216), cardiac muscle tissue morphogenesis (GO:0055008), regulation of actin filament organization (GO:0110053), positive regulation of protein localization (GO:1903829), actin cytoskeleton organization (GO:0030036)

GO Molecular Function (5): actin filament binding (GO:0051015), alpha-actinin binding (GO:0051393), actin binding (GO:0003779), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (6): cell-cell junction (GO:0005911), Z disc (GO:0030018), stress fiber (GO:0001725), focal adhesion (GO:0005925), cell junction (GO:0030054), anchoring junction (GO:0070161)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Sensory processing of sound	2

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
cardiac ventricle development	1
cardiac septum development	1
actin cytoskeleton organization	1
supramolecular fiber organization	1
cell junction organization	1
heart morphogenesis	1
cardiac muscle tissue development	1
muscle tissue morphogenesis	1
actin filament organization	1
regulation of actin cytoskeleton organization	1
regulation of supramolecular fiber organization	1
intracellular protein localization	1
regulation of protein localization	1
positive regulation of biological process	1
cytoskeleton organization	1
actin filament-based process	1
actin binding	1
protein-containing complex binding	1
actinin binding	1
cytoskeletal protein binding	1
binding	1
cation binding	1
anchoring junction	1
I band	1
actomyosin	1
contractile actin filament bundle	1
cell-substrate junction	1
cell junction	1

Protein interactions and networks

STRING

1658 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
XIRP2	MEF2A	Q02078	753
XIRP2	ACTN2	P35609	725
XIRP2	NEBL	O76041	631
XIRP2	CSMD3	Q7Z407	605
XIRP2	LRP1B	Q9NZR2	576
XIRP2	USH2A	O75445	547
XIRP2	ZFHX4	Q86UP3	544
XIRP2	TTN	Q8WZ42	537
XIRP2	MUC16	Q8WXI7	510
XIRP2	RYR2	Q92736	491
XIRP2	PKHD1L1	Q86WI1	486
XIRP2	PCLO	Q9Y6V0	482
XIRP2	NAV3	Q8IVL0	470
XIRP2	CNBD1	Q8NA66	467
XIRP2	SPTA1	P02549	459

IntAct

29 interactions, top by confidence:

A	B	Type	Score
XIRP2	NEBL	psi-mi:“MI:0915”(physical association)	0.670
NEBL	XIRP2	psi-mi:“MI:0407”(direct interaction)	0.670
XIRP2	NEBL	psi-mi:“MI:0407”(direct interaction)	0.670
XIRP2	NEB	psi-mi:“MI:0915”(physical association)	0.600
XIRP2	NEB	psi-mi:“MI:0407”(direct interaction)	0.600
NEB	XIRP2	psi-mi:“MI:0407”(direct interaction)	0.600
VASP	XIRP2	psi-mi:“MI:0407”(direct interaction)	0.440
XIRP2	LRRK2	psi-mi:“MI:0407”(direct interaction)	0.440
XIRP2	PNPT1	psi-mi:“MI:0915”(physical association)	0.400
XIRP2	H2BC9	psi-mi:“MI:0915”(physical association)	0.400
XIRP2	H1-5	psi-mi:“MI:0915”(physical association)	0.400
XIRP2	H1-4	psi-mi:“MI:0915”(physical association)	0.400
TTK	XIRP2	psi-mi:“MI:0915”(physical association)	0.400
PCNA	XIRP2	psi-mi:“MI:0915”(physical association)	0.370
CRY1	IGKV2D-30	psi-mi:“MI:0914”(association)	0.350
NSMAF	XIRP2	psi-mi:“MI:0914”(association)	0.350
DYRK1A	TEX13D	psi-mi:“MI:0914”(association)	0.350
PDE3A	TMEM131L	psi-mi:“MI:0914”(association)	0.350
XIRP2	ATE1	psi-mi:“MI:0914”(association)	0.350
AKT1	XIRP2	psi-mi:“MI:2364”(proximity)	0.270
BRAF	XIRP2	psi-mi:“MI:2364”(proximity)	0.270
FBXW7	XIRP2	psi-mi:“MI:2364”(proximity)	0.270
SMAD4	XIRP2	psi-mi:“MI:2364”(proximity)	0.270
XIRP2	DYSF	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (48): XIRP2 (Reconstituted Complex), HIST1H1E (Proximity Label-MS), PNPT1 (Proximity Label-MS), HIST1H1B (Proximity Label-MS), HIST1H2BH (Proximity Label-MS), XIRP2 (Two-hybrid), XIRP2 (Affinity Capture-MS), XIRP2 (Affinity Capture-MS), HECW2 (Affinity Capture-MS), XIRP2 (Affinity Capture-MS), ATE1 (Affinity Capture-MS), NEDD4L (Affinity Capture-MS), BAG3 (Affinity Capture-MS), XIRP2 (Affinity Capture-MS), DIS3 (Affinity Capture-MS)

ESM2 similar proteins: A0MZ66, A0MZ67, A2APB8, A4IH24, A4UGR9, A6H6Z7, A9JRM0, D4A702, E7F7X0, O35867, O60566, P13505, P14317, P49710, Q14247, Q1LVV0, Q28IH8, Q2MJV9, Q3B820, Q3MHH7, Q4KM62, Q4R6Q9, Q4U4S6, Q5E9V3, Q5NVK0, Q5PZ43, Q5R6I2, Q5RAF2, Q60598, Q66HL2, Q66KE9, Q6AYN9, Q6DDV8, Q6DFB7, Q6NUF4, Q6P0R8, Q6ZUJ8, Q71LX6, Q7T0S7, Q80ZU5

Diamond homologs: A4UGR9, Q4U4S6, Q5PZ43, Q71LX6, Q91957, O70373, Q702N8, B0KYV5, D4A1F2, E7F9T0, F1LR10, F1MF74, F1MH07, F1QH17, F1QWK4, F1RA39, F6QZ15, G3MWR8, O04193, O60952, O80839, O94851, P29675, Q0VFX8, Q1ECF5, Q1LZA7, Q4KM31, Q500W4, Q7F9R9, Q7RTP6, Q86BA1, Q8BGB5, Q8BML1, Q8CJ19, Q94JX5, Q9BIW4, Q9BT23, Q9ERG0, Q9M047, Q9UHB6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	522
Likely benign	100
Benign	73

Top pathogenic / likely-pathogenic (0)

SpliceAI

3387 predictions. Top by Δscore:

Variant	Effect	Δscore
2:167135904:AACAG:A	acceptor_gain	1.0000
2:167135906:CA:C	acceptor_loss	1.0000
2:167135908:GGAA:G	acceptor_gain	1.0000
2:167136058:TGAAG:T	donor_loss	1.0000
2:167136059:GAAGG:G	donor_loss	1.0000
2:167136060:AAGG:A	donor_loss	1.0000
2:167136061:AGGTT:A	donor_loss	1.0000
2:167136063:GTTA:G	donor_loss	1.0000
2:167181606:G:GT	donor_gain	1.0000
2:167183129:G:T	donor_gain	1.0000
2:167210730:TTCA:T	acceptor_loss	1.0000
2:167210731:TCAG:T	acceptor_loss	1.0000
2:167210733:A:AG	acceptor_gain	1.0000
2:167210733:AGC:A	acceptor_gain	1.0000
2:167210734:G:GA	acceptor_gain	1.0000
2:167210734:G:GT	acceptor_loss	1.0000
2:167210734:GC:G	acceptor_gain	1.0000
2:167210734:GCG:G	acceptor_gain	1.0000
2:167210734:GCGA:G	acceptor_gain	1.0000
2:167210734:GCGAC:G	acceptor_gain	1.0000
2:167210894:AT:A	donor_gain	1.0000
2:167210894:ATGT:A	donor_loss	1.0000
2:167210896:G:GA	donor_loss	1.0000
2:167210896:G:GG	donor_gain	1.0000
2:167210897:TAA:T	donor_loss	1.0000
2:167218155:A:G	acceptor_gain	1.0000
2:167218164:AGAT:A	acceptor_gain	1.0000
2:167218165:GATG:G	acceptor_gain	1.0000
2:167239927:TCCA:T	donor_gain	1.0000
2:167240656:A:AG	acceptor_gain	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000008529 (2:167127251 G>C), RS1000012283 (2:167204022 G>A), RS1000030351 (2:166998021 T>G), RS1000031606 (2:166913048 G>A,T), RS1000051088 (2:167015415 C>T), RS1000062109 (2:167037312 A>C,G), RS1000063555 (2:166960159 T>C), RS1000068900 (2:167165756 C>A,T), RS1000086602 (2:166958432 C>T), RS1000095248 (2:166889160 T>C,G), RS1000119477 (2:166956746 G>A), RS1000123184 (2:167086606 A>T), RS1000126980 (2:166971637 G>A,C), RS1000128039 (2:167160491 G>A), RS1000135672 (2:167036228 C>A)

Disease associations

OMIM: gene MIM:609778 | disease phenotypes: MIM:615779

GenCC curated gene-disease

Mondo (2): blepharophimosis (MONDO:0001008), congenital heart defects, multiple types, 4 (MONDO:0014344)

Orphanet (0):

HPO phenotypes

1 total (1 of 1 shown, HPO-id order):

HPO	Term
HP:0000581	Blepharophimosis

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST002844_2	Atopic dermatitis	4.000000e-08
GCST006043_2	Plasma renin activity levels	2.000000e-07
GCST008223_1	Diabetic peripheral neuropathy in type 2 diabetes	8.000000e-12
GCST010396_154	Gut microbiota (bacterial taxa, hurdle binary method)	2.000000e-06
GCST011743_84	HDL cholesterol levels in HIV infection	3.000000e-06

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0006828	plasma renin activity measurement
EFO:0007874	gut microbiome measurement
EFO:0004612	high density lipoprotein cholesterol measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D016569	Blepharophimosis	C11.250.090; C11.338.190; C16.131.384.190

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB clinical annotations

1 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs7606603	Efficacy	3	atenolol	Hypertension

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs7606603	XIRP2	3	2.25	1	atenolol

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects cotreatment, increases methylation, decreases expression, decreases methylation	2
Benzo(a)pyrene	increases expression, decreases methylation	2
Doxorubicin	decreases expression	2
Valproic Acid	decreases methylation, increases expression	2
2,4,6-tribromophenol	decreases expression	1
decabromobiphenyl ether	decreases expression	1
tetrabromobisphenol A	decreases expression	1
coumarin	increases phosphorylation	1
CGP 52608	affects binding, increases reaction	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
pentabrominated diphenyl ether 100	decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
bisphenol S	increases expression	1
Sunitinib	decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Benztropine	decreases expression	1
Ethyl Methanesulfonate	decreases expression	1
Formaldehyde	decreases expression	1
Haloperidol	decreases expression	1
Methyl Methanesulfonate	decreases expression	1
Oxygen	increases expression	1
Phthalic Acids	increases methylation	1
Vincristine	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT06514612	PHASE3	RECRUITING	LIDRISE Study: A Phase 3 Study on the Efficacy and Safety of STN1013800 (Oxymetazoline HCl 0.1% Eye Drops, Single Dose) in the Treatment of Acquired Blepharoptosis.