RTKN2

Summary

RTKN2 (rhotekin 2, HGNC:19364) is a protein-coding gene on chromosome 10q21.2, encoding Rhotekin-2 (Q8IZC4). May play an important role in lymphopoiesis.

Involved in negative regulation of intrinsic apoptotic signaling pathway; positive regulation of NF-kappaB transcription factor activity; and positive regulation of non-canonical NF-kappaB signal transduction. Located in cytoplasm and nucleus.

Source: NCBI Gene 219790 — RefSeq curated summary.

At a glance

• Gene–disease (curated): dilated cardiomyopathy (No Known Disease Relationship, ClinGen)
• GWAS associations: 18
• Clinical variants (ClinVar): 97 total
• MANE Select transcript: NM_145307

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19364
Approved symbol	RTKN2
Name	rhotekin 2
Location	10q21.2
Locus type	gene with protein product
Status	Approved
Aliases	Em:AC024597.2, bA531F24.1, FLJ39352
Ensembl gene	ENSG00000182010
Ensembl biotype	protein_coding
OMIM	618450
Entrez	219790

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 5 protein_coding

ENST00000315289, ENST00000373789, ENST00000395260, ENST00000919899, ENST00000955691

RefSeq mRNA: 2 — MANE Select: NM_145307 NM_001282941, NM_145307

CCDS: CCDS7263, CCDS73140

Canonical transcript exons

ENST00000373789 — 12 exons

Exon	Start	End
ENSE00001273682	62199754	62199861
ENSE00001273701	62217118	62217249
ENSE00001273707	62218195	62218301
ENSE00001273711	62223238	62223332
ENSE00001273717	62204857	62205022
ENSE00001461563	62193086	62198443
ENSE00001649394	62239648	62239765
ENSE00001668849	62245999	62246057
ENSE00001722928	62241142	62241195
ENSE00001768647	62262625	62262821
ENSE00003605827	62236066	62236263
ENSE00003843525	62268551	62268844

Expression profiles

Bgee: expression breadth ubiquitous, 152 present calls, max score 92.44.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.5769 / max 384.5106, expressed in 1061 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
109619	2.1936	646
109620	1.7703	691
109610	1.2819	71
109622	0.9196	306
109617	0.3169	183
109618	0.0790	24
109602	0.0090	3
109603	0.0065	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right lung	UBERON:0002167	92.44	gold quality
ventricular zone	UBERON:0003053	87.35	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	86.65	gold quality
lung	UBERON:0002048	84.36	gold quality
upper lobe of left lung	UBERON:0008952	83.52	gold quality
upper lobe of lung	UBERON:0008948	82.99	gold quality
ganglionic eminence	UBERON:0004023	82.94	gold quality
lower esophagus mucosa	UBERON:0035834	81.79	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	81.65	gold quality
lower lobe of lung	UBERON:0008949	78.80	gold quality
esophagus mucosa	UBERON:0002469	77.27	gold quality
visceral pleura	UBERON:0002401	71.02	gold quality
lymph node	UBERON:0000029	69.14	gold quality
cortical plate	UBERON:0005343	68.57	gold quality
left testis	UBERON:0004533	68.47	gold quality
testis	UBERON:0000473	68.43	gold quality
right testis	UBERON:0004534	68.07	gold quality
rectum	UBERON:0001052	68.04	gold quality
vermiform appendix	UBERON:0001154	66.27	gold quality
vagina	UBERON:0000996	64.77	gold quality
granulocyte	CL:0000094	64.75	gold quality
adrenal tissue	UBERON:0018303	64.32	gold quality
stromal cell of endometrium	CL:0002255	62.71	gold quality
prefrontal cortex	UBERON:0000451	61.06	gold quality
mucosa of transverse colon	UBERON:0004991	60.93	gold quality
caecum	UBERON:0001153	60.62	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	60.10	gold quality
Brodmann (1909) area 9	UBERON:0013540	59.94	gold quality
minor salivary gland	UBERON:0001830	59.46	gold quality
bone marrow cell	CL:0002092	59.02	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-CURD-120	yes	42.48
E-CURD-122	yes	35.24
E-GEOD-130148	yes	11.75
E-ANND-3	yes	5.40
E-CURD-112	no	3.43

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

227 targeting RTKN2, 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-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-6740-5P	100.00	65.64	932
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-5696	99.98	72.36	4487

Literature-anchored findings (GeneRIF, showing 11)

• Cloning and characterization of gene expression of rhotekin-2. (PMID:15504364)
• we identified two gene loci associated with rheumatoid arthritis susceptibility- NFKBIE and RTKN2 (PMID:23028356)
• miR-1246 promotes UVB-induced apoptosis by downregulating RTKN2 expression and that UVB-upregulated miR-1246 released RTKN2-dependent resistance to UVB-induced apoptosis by targeting RTKN2 post-transcriptionally in keratinocyte cells. (PMID:24880483)
• RTKN2 was overexpressed in HCC tissues. RTKN2 served an important role in tumorigenesis and metastasis of HCC. (PMID:27081789)
• mutations in Pakistani patients with dilated cardiomyopathy rs375563861 (C2orf40), rs143187236 (MYOM3), and rs564181443 (RTKN2) have 3 fold or higher allele frequency in South Asians than in the global populations (PMID:29886034)
• These findings indicate that miR-181 functions as a tumor suppressor and plays a substantial role in inhibiting the tumorigenesis and reversing the metastasis of ovarian cancer through RTKN2-NF-kappaB signaling pathway in vitro (PMID:30309296)
• hese results suggested that RTKN2 is involved in the progression of human osteosarcoma, and may be a potential therapeutic target. (PMID:30389712)
• CircRNA hsa_circRNA_104348 promotes hepatocellular carcinoma progression through modulating miR-187-3p/RTKN2 axis and activating Wnt/beta-catenin pathway. (PMID:33311442)
• RTKN2 Inhibits the Growth, Migration, Invasion and Glycolysis of Lung Adenocarcinoma Cells by Inactivating the NF-kappaB Signalling Pathway. (PMID:36952123)
• RTKN2 knockdown alleviates the malignancy of breast cancer cells by regulating the Wnt/beta-catenin pathway. (PMID:38155217)
• CircZFR promotes colorectal cancer progression via stabilizing BCLAF1 and regulating the miR-3127-5p/RTKN2 axis. (PMID:38805063)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	rtkn2	ENSDARG00000053558
mus_musculus	Rtkn2	ENSMUSG00000037846
rattus_norvegicus	Rtkn2	ENSRNOG00000067849

Paralogs (2): ANLN (ENSG00000011426), RTKN (ENSG00000114993)

Protein

Protein identifiers

Rhotekin-2 — Q8IZC4 (reviewed: Q8IZC4)

Alternative names: Pleckstrin homology domain-containing family K member 1

All UniProt accessions (2): Q8IZC4, Q5SVY4

UniProt curated annotations — full annotation on UniProt →

Function. May play an important role in lymphopoiesis.

Tissue specificity. Expressed in lymphocytes, CD4 positive T-cells and bone marrow-derived cells. Also expressed in lung, colon, thymus and brain.

Induction. Up-regulated in cells resistant to 25-hydroxy cholesterol (25-OHC). Down-regulated in lymphocytes activated by treatment with phytohemagglutinin (PHA).

Isoforms (3)

UniProt ID	Names	Canonical?
Q8IZC4-1	1	yes
Q8IZC4-2	2
Q8IZC4-3	3

RefSeq proteins (2): NP_001269870, NP_660350* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001849	PH_domain	Domain
IPR011072	HR1_rho-bd	Domain
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR012966	AHD	Domain
IPR051364	Cytokinesis/Rho-signaling	Family

Pfam: PF00169, PF08174

UniProt features (14 total): splice variant 5, domain 2, sequence variant 2, region of interest 2, chain 1, coiled-coil region 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IZC4-F1	70.33	0.39

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 201 (showing top): chr10q21, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, SENESE_HDAC1_AND_HDAC2_TARGETS_DN, GOBP_NEGATIVE_REGULATION_OF_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY, GOBP_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION, AAACCAC_MIR140, GOBP_APOPTOTIC_SIGNALING_PATHWAY, GOBP_POSITIVE_REGULATION_OF_NON_CANONICAL_NF_KAPPAB_SIGNAL_TRANSDUCTION, GOBP_REGULATION_OF_NON_CANONICAL_NF_KAPPAB_SIGNAL_TRANSDUCTION, AAAGGGA_MIR204_MIR211, GOBP_NON_CANONICAL_NF_KAPPAB_SIGNAL_TRANSDUCTION, GOBP_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, GOBP_POSITIVE_REGULATION_OF_DNA_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY, GOBP_NEGATIVE_REGULATION_OF_APOPTOTIC_SIGNALING_PATHWAY

GO Biological Process (6): signal transduction (GO:0007165), positive regulation of cell population proliferation (GO:0008284), hemopoiesis (GO:0030097), obsolete positive regulation of NF-kappaB transcription factor activity (GO:0051092), positive regulation of non-canonical NF-kappaB signal transduction (GO:1901224), negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)

GO Molecular Function (0):

GO Cellular Component (3): nucleus (GO:0005634), cytoplasm (GO:0005737), plasma membrane (GO:0005886)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
cell population proliferation	1
regulation of cell population proliferation	1
positive regulation of cellular process	1
cell development	1
non-canonical NF-kappaB signal transduction	1
regulation of non-canonical NF-kappaB signal transduction	1
positive regulation of intracellular signal transduction	1
intrinsic apoptotic signaling pathway	1
negative regulation of intracellular signal transduction	1
negative regulation of apoptotic signaling pathway	1
regulation of intrinsic apoptotic signaling pathway	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cellular anatomical structure	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

344 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RTKN2	ARID5B	Q14865	520
RTKN2	RHOA	P06749	475
RTKN2	PRKRIP1	Q9H875	357
RTKN2	RHO	P08100	353
RTKN2	MGST1	P10620	353
RTKN2	TDRD10	Q5VZ19	337
RTKN2	CABCOCO1	Q8IVU9	326
RTKN2	USO1	O60763	313
RTKN2	ARHGEF1	Q92888	298
RTKN2	PKN1	Q16512	297
RTKN2	RALGDS	Q12967	294
RTKN2	OR2AE1	Q8NHA4	292
RTKN2	CALHM4	Q5JW98	290
RTKN2	KRTAP19-1	Q8IUB9	290
RTKN2	RTKN	Q9BST9	288

IntAct

14 interactions, top by confidence:

A	B	Type	Score
SH3KBP1	USP27X	psi-mi:“MI:0914”(association)	0.640
RHOC	ARHGEF11	psi-mi:“MI:0914”(association)	0.530
Dlg4	RTKN2	psi-mi:“MI:0407”(direct interaction)	0.440
Cd2ap		psi-mi:“MI:0915”(physical association)	0.400
IGHG1	PDPK1	psi-mi:“MI:0914”(association)	0.350
CAPZB	ENAH	psi-mi:“MI:0914”(association)	0.350
SH3KBP1	SRSF10	psi-mi:“MI:0914”(association)	0.350
SH3KBP1	ARHGAP10	psi-mi:“MI:0914”(association)	0.350
PACSIN1	RTKN2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (17): RTKN2 (Affinity Capture-MS), RTKN2 (Affinity Capture-MS), RTKN2 (Affinity Capture-MS), RTKN2 (Affinity Capture-MS), RTKN2 (Proximity Label-MS), RTKN2 (Positive Genetic), RTKN2 (Proximity Label-MS), RTKN2 (Affinity Capture-MS), RTKN2 (Affinity Capture-MS), RTKN2 (Affinity Capture-MS), RTKN2 (Cross-Linking-MS (XL-MS)), TTN (Cross-Linking-MS (XL-MS)), XIRP2 (Cross-Linking-MS (XL-MS)), RTKN2 (Proximity Label-MS), RTKN2 (Two-hybrid)

ESM2 similar proteins: A0JPF9, A1A5Q7, A2RT67, A2RUS2, A4D126, A5PKL6, A6NCI4, A6QPR9, D4ACE5, E9PYK3, F1ND48, Q05AA6, Q09M05, Q13474, Q15061, Q32PJ3, Q3TTL0, Q3UMR0, Q3UVV9, Q3UY96, Q498D5, Q49MI3, Q4R6Y8, Q4U2V3, Q502W6, Q5F204, Q5JPI3, Q5M8J0, Q5REW9, Q5RL51, Q5XIJ6, Q6DJG6, Q6RI63, Q7TNH6, Q7TPQ3, Q80V94, Q8BSE0, Q8CEL2, Q8IZC4, Q8N392

Diamond homologs: Q14B46, Q5XGX5, Q5XIZ9, Q6V7V2, Q8C6B2, Q8IZC4, Q9BST9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	76
Likely benign	6
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2199 predictions. Top by Δscore:

Variant	Effect	Δscore
10:62198444:C:CC	acceptor_gain	1.0000
10:62198454:T:C	acceptor_gain	1.0000
10:62198455:T:C	acceptor_gain	1.0000
10:62199750:TTA:T	donor_loss	1.0000
10:62199751:TACTC:T	donor_loss	1.0000
10:62199752:A:AC	donor_gain	1.0000
10:62199752:A:T	donor_loss	1.0000
10:62199752:ACT:A	donor_gain	1.0000
10:62199753:C:CA	donor_gain	1.0000
10:62199753:CT:C	donor_gain	1.0000
10:62199753:CTC:C	donor_gain	1.0000
10:62199753:CTCA:C	donor_gain	1.0000
10:62199753:CTCAT:C	donor_gain	1.0000
10:62199756:ATAT:A	donor_gain	1.0000
10:62199857:TTGGC:T	acceptor_gain	1.0000
10:62199858:TGGC:T	acceptor_gain	1.0000
10:62199859:GGC:G	acceptor_gain	1.0000
10:62199860:GC:G	acceptor_gain	1.0000
10:62199861:CC:C	acceptor_gain	1.0000
10:62199861:CCTA:C	acceptor_loss	1.0000
10:62199862:C:CC	acceptor_gain	1.0000
10:62199868:C:CT	acceptor_gain	1.0000
10:62199872:C:CT	acceptor_gain	1.0000
10:62199873:A:T	acceptor_gain	1.0000
10:62204855:A:AC	donor_gain	1.0000
10:62204856:C:CC	donor_gain	1.0000
10:62204856:CTAAG:C	donor_gain	1.0000
10:62204860:G:C	donor_gain	1.0000
10:62204875:G:GA	donor_gain	1.0000
10:62204886:T:TA	donor_gain	1.0000

AlphaMissense

4051 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:62199856:A:G	W398R	0.996
10:62199856:A:T	W398R	0.996
10:62241189:C:G	R108P	0.996
10:62236218:A:C	S178R	0.994
10:62236218:A:T	S178R	0.994
10:62236220:T:G	S178R	0.994
10:62199854:C:A	W398C	0.993
10:62199854:C:G	W398C	0.993
10:62241175:A:G	W113R	0.992
10:62241175:A:T	W113R	0.992
10:62239742:A:G	C132R	0.991
10:62241180:A:G	L111P	0.991
10:62204893:A:G	W384R	0.990
10:62204893:A:T	W384R	0.990
10:62223310:C:G	A237P	0.989
10:62262691:C:G	R64P	0.989
10:62223309:G:T	A237D	0.988
10:62246008:C:G	A103P	0.988
10:62199855:C:G	W398S	0.986
10:62241173:C:A	W113C	0.986
10:62241173:C:G	W113C	0.986
10:62236223:A:C	Y177D	0.985
10:62262714:C:A	K56N	0.985
10:62262714:C:G	K56N	0.985
10:62218260:A:G	C275R	0.984
10:62239743:A:C	F131L	0.984
10:62239743:A:T	F131L	0.984
10:62239745:A:G	F131L	0.984
10:62241186:A:T	I109K	0.984
10:62262709:A:G	L58P	0.983

dbSNP variants (sampled 300 via entrez): RS1000016760 (10:62236387 C>T), RS1000017327 (10:62210313 A>G), RS1000022942 (10:62262883 T>C), RS1000029025 (10:62200627 G>A), RS1000043503 (10:62218223 T>A), RS1000083936 (10:62269587 C>G), RS1000154384 (10:62269877 T>C), RS1000163670 (10:62256387 G>A), RS1000182861 (10:62255386 A>C,T), RS1000197556 (10:62237835 T>C), RS1000271103 (10:62269733 C>G,T), RS1000315270 (10:62204421 A>C), RS1000327475 (10:62197922 G>T), RS1000348215 (10:62185994 G>A), RS1000358141 (10:62217490 C>T)

Disease associations

OMIM: gene MIM:618450 | disease phenotypes: MIM:178500

GenCC curated gene-disease

Disease	Classification	Inheritance
dilated cardiomyopathy	No Known Disease Relationship	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
dilated cardiomyopathy	No Known Disease Relationship	AR

Mondo (2): interstitial lung disease 2 (MONDO:0800497), dilated cardiomyopathy (MONDO:0005021)

Orphanet (2): Idiopathic pulmonary fibrosis (Orphanet:2032), Acute interstitial pneumonia (Orphanet:79126)

HPO phenotypes

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

GWAS associations

18 associations (top):

Study	Trait	p-value
GCST000394_2	Diastolic blood pressure	1.000000e-09
GCST001681_2	Rheumatoid arthritis	5.000000e-09
GCST001795_4	Systemic lupus erythematosus	5.000000e-11
GCST002318_31	Rheumatoid arthritis	4.000000e-06
GCST002318_53	Rheumatoid arthritis	4.000000e-08
GCST002465_1	Response to haloperidol in psychosis	1.000000e-06
GCST003988_24	Hypothyroidism	4.000000e-08
GCST006959_105	Rheumatoid arthritis	8.000000e-08
GCST006959_12	Rheumatoid arthritis	7.000000e-07
GCST009391_1332	Metabolite levels	9.000000e-06
GCST009391_1988	Metabolite levels	8.000000e-06
GCST009391_656	Metabolite levels	2.000000e-06
GCST010571_97	Autoimmune thyroid disease	1.000000e-13
GCST90020025_553	Waist-to-hip ratio adjusted for BMI	4.000000e-09
GCST90020025_554	Waist-to-hip ratio adjusted for BMI	6.000000e-09
GCST90020027_880	Waist-hip index	3.000000e-09
GCST90020027_881	Waist-hip index	7.000000e-09
GCST90020028_41	Hip circumference adjusted for BMI	3.000000e-08

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0006336	diastolic blood pressure
EFO:0010361	lysophosphatidylcholine 18:2 measurement
EFO:0005058	tyrosine measurement
EFO:0010507	lactose measurement
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0008039	BMI-adjusted hip circumference

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D002311	Cardiomyopathy, Dilated	C14.280.195.160; C14.280.238.070; C16.320.488.750

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression, decreases methylation	5
trichostatin A	affects cotreatment, decreases expression, affects expression	3
potassium chromate(VI)	affects cotreatment, decreases expression	2
Nickel	increases expression	2
TAK-243	increases sumoylation	1
dicrotophos	decreases expression	1
methylmercuric chloride	increases expression	1
triphenyl phosphate	affects expression	1
titanium dioxide	increases methylation	1
terbufos	increases methylation	1
beta-lapachone	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	affects cotreatment, decreases expression, increases abundance	1
butyraldehyde	decreases expression	1
perfluorooctanoic acid	decreases expression	1
manganese chloride	decreases expression, increases abundance, affects cotreatment	1
benzo(e)pyrene	decreases methylation	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
phenethyl isothiocyanate	decreases expression	1
chromium hexavalent ion	decreases expression	1
perfluorooctane sulfonic acid	decreases expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	decreases expression, affects cotreatment	1
ICG 001	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
incobotulinumtoxinA	decreases expression	1
Sunitinib	decreases expression	1
Leflunomide	decreases expression	1
Acetaminophen	increases expression	1
Allergens	increases abundance, increases expression, affects cotreatment, decreases abundance	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00374465	PHASE4	UNKNOWN	Therapy With Verapamil or Carvedilol in Chronic Heart Failure
NCT01293903	PHASE4	COMPLETED	Study of Qiliqiangxin Capsule to Treat Dilated Cardiomyopathy
NCT01557140	PHASE4	COMPLETED	A Randomized Trial of Carvedilol in Chronic Chagas Cardiomyopathy
NCT01917149	PHASE4	COMPLETED	Supramaximal Titrated Inhibition of RAAS in Dilated Cardiomyopathy
NCT02115581	PHASE4	COMPLETED	Coenzyme Q10 Supplementation in Children With Idiopathic Dilated Cardiomyopathy
NCT06236022	PHASE4	RECRUITING	The Effects of Sirolimus in Patients With Dilated Cardiomyopathy Infected With Kaposi Sarcoma-associated Virus
NCT00333827	PHASE3	COMPLETED	Cell Therapy In Dilated Cardiomyopathy
NCT00505154	PHASE3	COMPLETED	Effect of Rosuvastatin on Left Ventricular Remodeling
NCT01223703	PHASE3	COMPLETED	PUFAs and Left Ventricular Function in Heart Failure
NCT01583114	PHASE3	TERMINATED	PREclinical Mutation CARriers From Families With DIlated Cardiomyopathy and ACE Inhibitors
NCT01914081	PHASE3	UNKNOWN	Resveratrol: A Potential Anti- Remodeling Agent in Heart Failure, From Bench to Bedside
NCT02989181	PHASE3	UNKNOWN	Continues Positive Airway Pressure Treatment for Patients With Dilated Cardiomyopathy and Obstructive Sleep Apnea
NCT03439514	PHASE3	TERMINATED	A Study of ARRY-371797 (PF-07265803) in Patients With Symptomatic Dilated Cardiomyopathy Due to a Lamin A/C Gene Mutation
NCT05237323	PHASE3	COMPLETED	Micophenolate Mofetil Versus Azathioprine in Myocarditis
NCT05849766	PHASE3	COMPLETED	Effect of Dapagliflozin on Cardiac Structure, Function and Secondary Mitral Regurgitation in Patients with Left Ventricle Dysfunction
NCT06250257	PHASE3	RECRUITING	Bromocriptine in Dilated Cardiomyopathy Among Women of Reproductive Age
NCT00629018	PHASE2	COMPLETED	Safety and Efficacy Study of Stem Cell Transplantation to Treat Dilated Cardiomyopathy
NCT00629096	PHASE2	COMPLETED	Intracoronary Infusion of Autologous Bone Marrow Cells for Treatment of Idiopathic Dilated Cardiomyopathy
NCT00765518	PHASE2	COMPLETED	Use of Ixmyelocel-T (Formerly Cardiac Repair Cell [CRC] Treatment) in Patients With Heart Failure Due to Dilated Cardiomyopathy (IMPACT-DCM)
NCT00847964	PHASE2	COMPLETED	Safety and Feasibility of Algisyl-LVR™ as a Method of Left Ventricular Restoration in Patients With DCM Undergoing Open-heart Surgery
NCT01020968	PHASE2	COMPLETED	Use of Ixmyelocel-T (Formerly Catheter-based Cardiac Repair Cell [CRC]) Treatment in Patients With Heart Failure Due to Dilated Cardiomyopathy
NCT01302171	PHASE2	COMPLETED	Bone Marrow Derived Adult Stem Cells for Dilated Cardiomyopathy
NCT01350310	PHASE2	COMPLETED	Safety and Efficacy Study of Intramyocardial Stem Cell Therapy in Patients With Dilated Cardiomyopathy
NCT02133911	PHASE2	COMPLETED	A Pilot Trial of Ranolazine to Treat Patients With Dilated Cardiomyopathy
NCT03071653	PHASE2	SUSPENDED	Left Cardiac Sympathetic Denervation for Cardiomyopathy Feasibility Pilot Study
NCT03572660	PHASE2	ACTIVE_NOT_RECRUITING	Use of Bone Marrow Derived Stem Cell and G-CSF With Circulatory Assistance in the Treatment of DCM
NCT03775070	PHASE2	COMPLETED	Simvastatin Therapy in Patients With Dilated Cardiomyopathy.
NCT04405804	PHASE2	UNKNOWN	Early Administration of Ivabradine in Children With Heart Failure
NCT05410873	PHASE2	COMPLETED	Examining the Effects of Mitochondrial Oxidative Stress in DCM
NCT06632834	PHASE2	RECRUITING	Outcome-targeted Therapy: Principle and Outcome Evaluation: Clinical Study and Phenotype-genotype Correlation
NCT00585546	PHASE1	TERMINATED	Harefield Recovery Protocol Study for Patients With Refractory Chronic Heart Failure
NCT02293603	PHASE1	UNKNOWN	Dilated cardiomYopathy iNtervention With Allogeneic MyocardIally-regenerative Cells (DYNAMIC)
NCT03062956	PHASE1	COMPLETED	A Single Ascending Dose Study Assessing the Safety, Tolerability, PK and PD of MYK-491
NCT03129568	PHASE1	COMPLETED	Transcoronary Infusion of Cardiac Progenitor Cells in Pediatric Dilated Cardiomyopathy
NCT04982081	PHASE1	UNKNOWN	Treating Congestive HF With hiPSC-CMs Through Endocardial Injection
NCT06381466	PHASE1	TERMINATED	A Study to Investigate Safety, Tolerability, and Pharmacokinetics of Oral AZD0233 Compared With Placebo in Healthy Adult Participants.
NCT06464588	PHASE1	RECRUITING	A Phase 1 Open-Label Study of the Safety of Intravenous Allogeneic Neonatal Mesenchymal Cells (nMSCs) in Young Adult (1A) and Pediatric (1B) Patients With Dilated Cardiomyopathy (DCM)
NCT06902896	PHASE1	COMPLETED	Safety and Efficacy of FAP iCDC in End-stage Dilated Cardiomyopathy
NCT07137338	PHASE1	RECRUITING	A Phase 1 AAV Gene Therapy Trial Evaluating Safety and Preliminary Efficacy of RP-A701 in Subjects With BAG3 Dilated Cardiomyopathy
NCT07241104	PHASE1	RECRUITING	A Study of AZD4063 in PLN R14del Dilated Cardiomyopathy