TJP1

Summary

TJP1 (tight junction protein 1, HGNC:11827) is a protein-coding gene on chromosome 15q13.1, encoding Tight junction protein 1 (Q07157). TJP1, TJP2, and TJP3 are closely related scaffolding proteins that link tight junction (TJ) transmembrane proteins such as claudins, junctional adhesion molecules, and occludin to the actin cytoskeleton.

This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family of proteins, and acts as a tight junction adaptor protein that also regulates adherens junctions. Tight junctions regulate the movement of ions and macromolecules between endothelial and epithelial cells. The multidomain structure of this scaffold protein, including a postsynaptic density 95/disc-large/zona occludens (PDZ) domain, a Src homology (SH3) domain, a guanylate kinase (GuK) domain and unique (U) motifs all help to co-ordinate binding of transmembrane proteins, cytosolic proteins, and F-actin, which are required for tight junction function. Alternative splicing results in multiple transcript variants encoding different isoforms.

Source: NCBI Gene 7082 — RefSeq curated summary.

At a glance

• Gene–disease (curated): arrhythmogenic right ventricular cardiomyopathy (Limited, ClinGen)
• GWAS associations: 7
• Clinical variants (ClinVar): 220 total
• Phenotypes (HPO): 1
• Druggable target: yes
• MANE Select transcript: NM_001330239

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11827
Approved symbol	TJP1
Name	tight junction protein 1
Location	15q13.1
Locus type	gene with protein product
Status	Approved
Aliases	ZO-1, MGC133289, DKFZp686M05161
Ensembl gene	ENSG00000104067
Ensembl biotype	protein_coding
OMIM	601009
Entrez	7082

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 14 protein_coding, 4 retained_intron

ENST00000346128, ENST00000356107, ENST00000400007, ENST00000400011, ENST00000462916, ENST00000473741, ENST00000485381, ENST00000495972, ENST00000545208, ENST00000561307, ENST00000614355, ENST00000677774, ENST00000900272, ENST00000934390, ENST00000934391, ENST00000934392, ENST00000934393, ENST00000934394

RefSeq mRNA: 9 — MANE Select: NM_001330239 NM_001301025, NM_001301026, NM_001330239, NM_001355012, NM_001355013, NM_001355014, NM_001355015, NM_003257, NM_175610

CCDS: CCDS42007, CCDS45199, CCDS73702, CCDS81858, CCDS91970, CCDS91971

Canonical transcript exons

ENST00000614355 — 28 exons

Exon	Start	End
ENSE00000672939	29718021	29718118
ENSE00000672940	29718266	29719138
ENSE00000672941	29719777	29720016
ENSE00000672942	29720358	29720708
ENSE00000672950	29734274	29734382
ENSE00000673042	29761601	29761769
ENSE00000673044	29766266	29766542
ENSE00000912738	29726379	29726479
ENSE00000912739	29726781	29726991
ENSE00000912740	29727937	29728019
ENSE00000912743	29732631	29732815
ENSE00000912744	29733094	29733313
ENSE00001001836	29732433	29732528
ENSE00001001837	29708559	29709036
ENSE00001001840	29761139	29761286
ENSE00001001845	29705528	29705745
ENSE00001001846	29716611	29716838
ENSE00001001849	29762335	29762438
ENSE00001001851	29710831	29711000
ENSE00001001852	29742642	29742781
ENSE00001001854	29737264	29737414
ENSE00001144945	29772064	29772166
ENSE00001177757	29700152	29701689
ENSE00001419179	29773233	29773357
ENSE00001493910	29704162	29704305
ENSE00001493913	29741331	29741436
ENSE00001658526	29800646	29800702
ENSE00003718880	29822002	29822468

Expression profiles

Bgee: expression breadth ubiquitous, 137 present calls, max score 97.71.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 40.4050 / max 2496.6110, expressed in 1613 samples.

FANTOM5 promoters (18 alternative TSS)

Promoter ID	TPM avg	Samples expressed
149091	22.6671	1582
149090	8.7584	1511
149072	2.5589	1054
149102	1.1118	144
149074	0.9518	348
149103	0.8652	142
149089	0.7762	384
149088	0.7031	420
149087	0.6991	410
149073	0.4482	224

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
corpus callosum	UBERON:0002336	97.71	gold quality
lower esophagus mucosa	UBERON:0035834	97.40	gold quality
sural nerve	UBERON:0015488	97.03	gold quality
tibial nerve	UBERON:0001323	96.98	gold quality
placenta	UBERON:0001987	95.59	gold quality
esophagus mucosa	UBERON:0002469	95.57	gold quality
tibial artery	UBERON:0007610	95.43	gold quality
popliteal artery	UBERON:0002250	95.42	gold quality
right lung	UBERON:0002167	95.34	gold quality
smooth muscle tissue	UBERON:0001135	95.25	gold quality
calcaneal tendon	UBERON:0003701	95.05	gold quality
endometrium	UBERON:0001295	94.98	gold quality
colonic epithelium	UBERON:0000397	94.81	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	94.77	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	94.73	gold quality
body of uterus	UBERON:0009853	94.73	gold quality
uterus	UBERON:0000995	94.60	gold quality
putamen	UBERON:0001874	94.52	gold quality
spinal cord	UBERON:0002240	94.47	gold quality
amygdala	UBERON:0001876	94.43	gold quality
myometrium	UBERON:0001296	94.39	gold quality
stromal cell of endometrium	CL:0002255	94.37	gold quality
right coronary artery	UBERON:0001625	94.21	gold quality
islet of Langerhans	UBERON:0000006	94.17	gold quality
caudate nucleus	UBERON:0001873	94.12	gold quality
temporal lobe	UBERON:0001871	94.11	gold quality
substantia nigra	UBERON:0002038	94.09	gold quality
upper lobe of left lung	UBERON:0008952	94.09	gold quality
left coronary artery	UBERON:0001626	93.89	gold quality
ectocervix	UBERON:0012249	93.84	gold quality

Single-cell (SCXA)

Detected in 7 experiment(s), a significant marker in 6.

Experiment	Marker?	Max mean expression
E-CURD-119	yes	31.97
E-ANND-3	yes	20.98
E-HCAD-10	yes	20.90
E-MTAB-6701	yes	11.89
E-CURD-112	yes	7.99
E-MTAB-9067	yes	6.33
E-HCAD-25	no	4.18

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AR, CTNNB1, HDAC1, ID1, JUND, MYCN, NR3C2, RUNX1, SH3GL2, WT1

miRNA regulators (miRDB)

154 targeting TJP1, 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-3163	100.00	77.23	8605
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-6748-5P	100.00	65.81	1057
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-8075	99.97	67.20	962
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-495-3P	99.96	72.81	4197

Literature-anchored findings (GeneRIF, showing 40)

• Data show that connexin 43 (cx43) binds alpha-tubulin equally well as beta-tubulin, and that ZO-1 binds directly to Cx43. (PMID:12064592)
• oxidative stress induces tyrosine phosphorylation and cellular redistribution of occludin-ZO-1 and E-cadherin-beta-catenin complexes by a tyrosine-kinase-dependent mechanism (PMID:12169098)
• Tyrosine phosphorylation of ZO-1 leads to down-regulation of the function of ZO-1 and dedifferentiation of the glands in colorectal cancers. These phenomena contribute to liver metastases, & redifferentiation of the glands occurs in the liver metastases. (PMID:12708492)
• dedifferentiation and a decreased expression of E-cadherin and ZO-1 are closely related to liver metastasis (PMID:12725331)
• Modulatory role of VIPergic submucosal neuronal pathways on intestinal epithelial barrier permeability and ZO-1 expression. (PMID:12881224)
• Interactions with ZO-1 and ZO-2, in particular, may mediate recruitment of armadillo repeat gene deletes in velocardiofacial syndrome protein to the plasma membrane and the nucleus (PMID:15456900)
• The ZO-1 present in the tight junctions in HepG2 cells cultured in the presence or absence of retinoic acid. (PMID:15500294)
• The scaffolding protein ZO-1 co-localizes with transient receptor potential channel 4 protein TRPC4 in resting astrocytes at the cell membrane. (PMID:15540229)
• Activation of PKC by the phorbol ester TPA induced ZO-1 and occludin transcription, whereas PKC inhibition lead to decreased expression levels (PMID:15622522)
• Increased ZO-1 in melanoma contributes to oncogenic behavior. Protein products of genes such as ZO-1 can function in either pro- or anti-oncogenic manner when expressed in different cellular contexts. (PMID:15855653)
• Rsults show that ZO-1 can intervene in signaling events promoting tumor cell invasion. (PMID:16140936)
• Structural analyses reveal that the differences between Erbin PDZ domain and the first PDZ domain of ZO-1 in specificity can be accounted for by two key differences in primary sequence. (PMID:16737969)
• two ZO-1 complexes may coordinate two important S1P-mediated functions, i.e. migration and barrier integrity, in vascular endothelial cells (PMID:16891661)
• I human intestinal epithelium, ZO-1 was localized to the apical pole of cells neighboring a shedding event (shedding of epithelial cells). (PMID:16909128)
• Variants in TJP1 do not appear to be major determinants for albuminuria in the San Antonio Family Diabetes/Gallbladder Study. (PMID:17039425)
• findings show that zonula occludens-1 is recruited to actin tails and pedestals; it is proposed that certain pathogenic bacteria create particular actin-rich structures that attract ZO-1 through a signal generated by WASP-related molecules (PMID:17118974)
• Sertoli cells associated with carcinoma in situ of the testicles show an altered distribution of ZO-1 protein and loss of blood-testis barrier function. (PMID:17217619)
• ZO-1 accumulated at cell-to-cell junctions of the breast neoplasm cell line. (PMID:17243118)
• Triglyceride rich lipoprotein lipolysis products regulate ZO-1 expression at endothelial cell tight junctions to alter permeability. (PMID:17259442)
• Helicobacter pylori infected gastric epithelial cells showed altered ZO-1 distribution. (PMID:17509776)
• the interaction between Cx43 and ZO-1 is regulated by the proteasome (PMID:17541973)
• It is concluded that in patients with heart failure, down-regulation of ZO-1 matches the diminished expression levels of connexin 43, suggesting that ZO-1 plays an important role in gap junction formation and gap junction plaque stability. (PMID:17760848)
• analysis of the structure of the second of the three PDZ domains of ZO-1, which is known to promote dimerization as well as bind to C-terminal sequences on connexins (PMID:17928286)
• Reduced claudin-1 expression correlates with loss of differentiation in thyroid neoplasms. (PMID:17962811)
• Findings suggest that ZO-1, by interacting with Cx43, plays a role in the down-regulation and decreased size of Cx43 gap junctions in congestive heart failure. (PMID:18056766)
• The aims of our study were: (i) to investigate the effect of alcohol on miRNA-212 (miR-212) and on expression of its predicted target gene, ZO-1, (ii) to study the potential role of miR-212 in the pathophysiology of ALD in man. (PMID:18162065)
• The ZO-1 promoter region in bone marrow of myelodysplastic syndrome patients shows a hypermethylation status, which is specific for MDS. (PMID:18315903)
• Hepatocellular carcinomas and metastases are characterized by markedly different protein expression pattern of occludin and ZO-1, which phenomenon might be attributed to the different histogenesis of these tumors. (PMID:18386163)
• Rsults suggest that the lower epithelial alpha-catenin, E-cadherin and (or) ZO-1 expression in patients with atopic asthma contributes to a defective airway epithelial barrier and a higher influx of eosinophils in the epithelium. (PMID:18418437)
• These data demonstrate that the tight junction undergoes constant remodeling and suggest that this dynamic behavior may contribute to tight junction assembly and regulation. (PMID:18474622)
• JunD is a biological suppressor of ZO-1 expression in intestinal epithelial cells and plays a critical role in maintaining epithelial barrier function (PMID:18562690)
• domain-swapped dimerization of zonula occludens-1 PDZ2 generates a distinct interface that functions together with the well-separated canonical carboxyl tail-binding pocket in each PDZ unit in binding to connexin43 (Cx43) (PMID:18636092)
• Targets to gap junction edges independently of several known PDZ2 domain-mediated interactions. (PMID:18649178)
• Hepatocyte tight junctions-associated proteins occludin, claudin-1, and Zonula Occludens protein-1 (ZO-1) disappeared from the borders of adjacent cells in hepatoma cells harboring genomic hepatitis c virus replicons. (PMID:18802961)
• tyrosine phosphorylation of Neph1 mediated by Fyn results in significantly increased Neph1 and ZO-1 binding, suggesting a critical role for Neph1 tyrosine phosphorylation in reorganizing the Neph1-ZO-1 complex. (PMID:18922801)
• a unique motif in the occludin sequence that is involved in the regulation of ZO-1 binding by reversible phosphorylation of specific Tyr residues. (PMID:19017651)
• Muscarinic-induced recruitment of plasma membrane Ca2+-ATPase involves PSD-95/Dlg/Zo-1-mediated interactions. (PMID:19017653)
• ZO-1, occludin, and E-cadherin are downregulated in carcinomas arising from various compartments of the biliary tract (PMID:19184677)
• tick-borne encephalitis virus -NS5 has high affinity to regulating synaptic membrane exocytosis-2 (RIMS2) and Scribble, whereas DENV-NS5 binds primarily to the tight junction protein zonula occludens-1 (ZO-1) (PMID:19199833)
• DEP-1 interacts with the tight junction proteins occludin and ZO-1 in a tyrosine phosphorylation-dependent manner. (PMID:19332538)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	tjp1a	ENSDARG00000077506
danio_rerio	tjp1b	ENSDARG00000079374
mus_musculus	Tjp1	ENSMUSG00000030516
rattus_norvegicus	Tjp1	ENSRNOG00000011077
drosophila_melanogaster	pyd	FBGN0262614
caenorhabditis_elegans	zoo-1	WBGENE00013683

Paralogs (3): TJP3 (ENSG00000105289), TJP2 (ENSG00000119139), DLG5 (ENSG00000151208)

Protein

Protein identifiers

Tight junction protein 1 — Q07157 (reviewed: Q07157)

Alternative names: Tight junction protein ZO-1, Zona occludens protein 1, Zonula occludens protein 1

All UniProt accessions (7): A0A087X0K9, A0A7I2V5U5, Q07157, G3V1L9, G5E9E7, H0Y3R8, H0YKB1

UniProt curated annotations — full annotation on UniProt →

Function. TJP1, TJP2, and TJP3 are closely related scaffolding proteins that link tight junction (TJ) transmembrane proteins such as claudins, junctional adhesion molecules, and occludin to the actin cytoskeleton. Forms a multistranded TJP1/ZO1 condensate which elongates to form a tight junction belt, the belt is anchored at the apical cell membrane via interaction with PATJ. The tight junction acts to limit movement of substances through the paracellular space and as a boundary between the compositionally distinct apical and basolateral plasma membrane domains of epithelial and endothelial cells. Necessary for lumenogenesis, and particularly efficient epithelial polarization and barrier formation. Plays a role in the regulation of cell migration by targeting CDC42BPB to the leading edge of migrating cells. Plays an important role in podosome formation and associated function, thus regulating cell adhesion and matrix remodeling. With TJP2 and TJP3, participates in the junctional retention and stability of the transcription factor DBPA, but is not involved in its shuttling to the nucleus. May play a role in mediating cell morphology changes during ameloblast differentiation via its role in tight junctions.

Subunit / interactions. Homodimer. Forms heterodimers TJP3. Forms a heterodimer (via PDZ2 domain) with TJP2/ZO2 (via PDZ2 domain). Interacts with OCLN, CALM, claudins, CGN/cingulin, CXADR, GJA12, GJD3 and UBN1. Interacts (via ZU5 domain) with CDC42BPB and MYZAP. Interacts (via PDZ domain) with GJA1. Interacts (via PDZ domains) with ANKRD2. Interacts with POPDC1 (via the C-terminus cytoplasmic tail). Interacts with HSPA4 and KIRREL1. Interacts with DLL1. Interacts with USP53 (via the C-terminal region). Interacts (via ABR region) with F-actin. Interacts with DNMBP (via C-terminal domain); required for the apical cell-cell junction localization of DNMBP. Interacts with SPEF1. Interacts (via N-terminus) with CTNNA1. Interacts with CLDN18. Interacts with CLDN16 (via TRV motif); this is a prerequisite for anchoring of CLDN16 at the tight junction. Interacts with PKP1; the interaction facilitates TJP1/ZO-1 localization to the plasma membrane. Interacts with PATJ (via PDZ1-6 domains); the interaction is required for attachment and extension of TJP1/ZO1 condensates along the apical cell interface.

Subcellular location. Cell membrane. Cell junction. Tight junction. Gap junction. Cell projection. Podosome.

Tissue specificity. The alpha-containing isoform is found in most epithelial cell junctions. The short isoform is found both in endothelial cells and the highly specialized epithelial junctions of renal glomeruli and Sertoli cells of the seminiferous tubules.

Post-translational modifications. Phosphorylated at tyrosine redidues in response to epidermal growth factor (EGF). This response is dependent on an intact actin microfilament system. Dephosphorylated by PTPRJ.

Domain organisation. The 244-aa domain between residues 633 and 876 is the primary occludin (OCLN)-binding site and is required for stable association with the tight junction. The C-terminal region (residues 1151-1372) is an actin-binding region (ABR) that interacts directly with F-actin and plays an important role in the localization of TJP1 at junctions. The ABR is also required for the localization to puncta at the free edge of cells before initiation of cell-cell contact. The ABR is also necessary for TJP1 recruitment to podosomes. The second PDZ domain (PDZ2) mediates homodimerization and heterodimerization with TJP2 and TJP3.

Similarity. Belongs to the MAGUK family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q07157-1	Long	yes
Q07157-2	Short

RefSeq proteins (9): NP_001287954, NP_001287955, NP_001317168, NP_001341941, NP_001341942, NP_001341943, NP_001341944, NP_003248, NP_783297 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000906	ZU5_dom	Domain
IPR001452	SH3_domain	Domain
IPR001478	PDZ	Domain
IPR005417	ZO	Family
IPR005418	ZO-1	Family
IPR008144	Guanylate_kin-like_dom	Domain
IPR008145	GK/Ca_channel_bsu	Domain
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR035597	ZO-1_SH3	Domain
IPR036028	SH3-like_dom_sf	Homologous_superfamily
IPR036034	PDZ_sf	Homologous_superfamily

Pfam: PF00595, PF00625, PF00791, PF07653

UniProt features (163 total): modified residue 50, strand 37, compositionally biased region 20, helix 18, turn 10, domain 6, region of interest 6, sequence variant 6, mutagenesis site 4, sequence conflict 4, chain 1, splice variant 1

Structure

Experimental structures (PDB)

19 structures.

PDB	Method	Resolution (Å)
4Q2Q	X-RAY DIFFRACTION	1.45
2H2B	X-RAY DIFFRACTION	1.6
2RCZ	X-RAY DIFFRACTION	1.7
9HM2	X-RAY DIFFRACTION	1.72
4YYX	X-RAY DIFFRACTION	1.79
4OEO	X-RAY DIFFRACTION	1.9
3TSV	X-RAY DIFFRACTION	1.99
2H2C	X-RAY DIFFRACTION	2
4OEP	X-RAY DIFFRACTION	2.35
3CYY	X-RAY DIFFRACTION	2.4
3TSZ	X-RAY DIFFRACTION	2.5
3LH5	X-RAY DIFFRACTION	2.6
3SHU	X-RAY DIFFRACTION	2.75
3TSW	X-RAY DIFFRACTION	2.85
2H3M	X-RAY DIFFRACTION	2.9
3SHW	X-RAY DIFFRACTION	2.9
2JWE	SOLUTION NMR
2KXR	SOLUTION NMR
2KXS	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q07157-F1	54.73	0.25

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 (50): 912, 125, 132, 175, 178, 179, 185, 212, 241, 267, 275, 277, 280, 284, 290, 294, 297, 300, 323, 329 …

Mutagenesis-validated functional residues (4):

Position	Phenotype
201	strongly reduced interaction with gja1.
209	abolishes interaction with gja1.
1699–1700	abolishes interaction with cdc42bpb.
1748	abolishes interaction with cdc42bpb and myzap.

Function

Pathways and Gene Ontology

Reactome pathways

6 pathways

ID	Pathway
R-HSA-191650	Regulation of gap junction activity
R-HSA-2028269	Signaling by Hippo
R-HSA-351906	Apoptotic cleavage of cell adhesion proteins
R-HSA-8935964	RUNX1 regulates expression of components of tight junctions
R-HSA-9705677	SARS-CoV-2 targets PDZ proteins in cell-cell junction
R-HSA-9918481	Dengue Virus-Host Interactions

MSigDB gene sets: 339 (showing top): BROWNE_HCMV_INFECTION_30MIN_DN, GOBP_ENDOTHELIAL_CELL_DEVELOPMENT, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_ACTIN_FILAMENT_BUNDLE_ORGANIZATION, MYOGENIN_Q6, HNF3ALPHA_Q6, GOBP_CIRCULATORY_SYSTEM_PROCESS, GOBP_EPITHELIAL_CELL_DEVELOPMENT, GOBP_ESTABLISHMENT_OF_ENDOTHELIAL_INTESTINAL_BARRIER, GOBP_REGULATION_OF_CELL_CELL_ADHESION_MEDIATED_BY_CADHERIN, TTCCGTT_MIR191, GCANCTGNY_MYOD_Q6, GOBP_APICAL_JUNCTION_ASSEMBLY, GOBP_POSITIVE_REGULATION_OF_VASCULATURE_DEVELOPMENT, chr15q13

GO Biological Process (23): cell-cell junction assembly (GO:0007043), positive regulation of cell population proliferation (GO:0008284), actin cytoskeleton organization (GO:0030036), positive regulation of cell migration (GO:0030335), actomyosin structure organization (GO:0031032), adherens junction maintenance (GO:0034334), maintenance of blood-brain barrier (GO:0035633), ameloblast differentiation (GO:0036305), negative regulation of apoptotic process (GO:0043066), cell-cell junction organization (GO:0045216), regulation of cytoskeleton organization (GO:0051493), negative regulation of stress fiber assembly (GO:0051497), protein localization to adherens junction (GO:0071896), establishment of endothelial intestinal barrier (GO:0090557), cell-cell adhesion (GO:0098609), protein localization to cell-cell junction (GO:0150105), regulation of cell junction assembly (GO:1901888), protein localization to bicellular tight junction (GO:1902396), positive regulation of sprouting angiogenesis (GO:1903672), positive regulation of blood-brain barrier permeability (GO:1905605), positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049), regulation of bicellular tight junction assembly (GO:2000810), netrin-activated signaling pathway (GO:0038007)

GO Molecular Function (5): calmodulin binding (GO:0005516), cadherin binding (GO:0045296), cell adhesion molecule binding (GO:0050839), netrin receptor activity (GO:0005042), protein binding (GO:0005515)

GO Cellular Component (17): podosome (GO:0002102), cytoplasm (GO:0005737), cytosol (GO:0005829), plasma membrane (GO:0005886), adherens junction (GO:0005912), gap junction (GO:0005921), bicellular tight junction (GO:0005923), basolateral plasma membrane (GO:0016323), cell junction (GO:0030054), protein-containing complex (GO:0032991), apical junction complex (GO:0043296), apical part of cell (GO:0045177), tight junction (GO:0070160), mitochondrion (GO:0005739), membrane (GO:0016020), cell projection (GO:0042995), anchoring junction (GO:0070161)

Reactome top-level categories

Rollup of top-6 pathways:

Category	Pathways
Gap junction trafficking and regulation	1
Signal Transduction	1
Apoptotic cleavage of cellular proteins	1
Transcriptional regulation by RUNX1	1
SARS-CoV-2-host interactions	1
Dengue Virus Infection	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	6
cell-cell junction	4
cell junction assembly	2
cytoskeleton organization	2
protein localization to cell-cell junction	2
protein binding	2
cytoplasm	2
cell-cell junction organization	1
cell population proliferation	1
regulation of cell population proliferation	1
positive regulation of cellular process	1
actin filament-based process	1
cell migration	1
regulation of cell migration	1
positive regulation of cell motility	1
actin cytoskeleton organization	1
adherens junction organization	1
cell-cell junction maintenance	1
tissue homeostasis	1
columnar/cuboidal epithelial cell differentiation	1
apoptotic process	1
regulation of apoptotic process	1
negative regulation of programmed cell death	1
cell junction organization	1
regulation of organelle organization	1
negative regulation of actin filament bundle assembly	1
stress fiber assembly	1
regulation of stress fiber assembly	1
establishment of endothelial barrier	1
cell adhesion	1
protein localization to cell junction	1
regulation of cellular component biogenesis	1
regulation of cellular component organization	1
sprouting angiogenesis	1
positive regulation of angiogenesis	1
regulation of sprouting angiogenesis	1
positive regulation of vascular permeability	1
regulation of blood-brain barrier permeability	1
cell adhesion molecule binding	1
transmembrane signaling receptor activity	1

Protein interactions and networks

STRING

4382 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TJP1	CLDN1	O95832	999
TJP1	OCLN	Q16625	999
TJP1	CLDN5	O00501	999
TJP1	CLDN7	O95471	999
TJP1	CGN	Q9P2M7	998
TJP1	MARVELD2	Q8N4S9	998
TJP1	F11R	Q9Y624	998
TJP1	CLDN4	O14493	996
TJP1	AFDN	P55196	995
TJP1	GJA1	P17302	994
TJP1	NPHS1	O60500	994
TJP1	CTNNB1	P35222	994
TJP1	CDH5	P33151	993
TJP1	CTTN	Q14247	989
TJP1	DLG4	P78352	988
TJP1	TJP2	Q9UDY2	988

IntAct

1022 interactions, top by confidence:

A	B	Type	Score
CDH5	CTNNB1	psi-mi:“MI:0914”(association)	0.930
KIRREL1	TJP1	psi-mi:“MI:0915”(physical association)	0.760
KIRREL1	TJP1	psi-mi:“MI:0407”(direct interaction)	0.760
GJA1	TJP1	psi-mi:“MI:0915”(physical association)	0.740
GJA1	TJP1	psi-mi:“MI:0407”(direct interaction)	0.740
KBTBD7	METTL15	psi-mi:“MI:0914”(association)	0.730
IFI30	DAPK1	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
CGN	YWHAE	psi-mi:“MI:0914”(association)	0.710
CSNK2B	RPS6KA5	psi-mi:“MI:0914”(association)	0.660
YWHAG	BLTP3B	psi-mi:“MI:2364”(proximity)	0.640
CSNK2A2	PES1	psi-mi:“MI:0914”(association)	0.640
E	TJP1	psi-mi:“MI:0915”(physical association)	0.610
E	TJP1	psi-mi:“MI:0407”(direct interaction)	0.610
TJP1	ACTN4	psi-mi:“MI:0914”(association)	0.600
TJP1	ACTN4	psi-mi:“MI:0915”(physical association)	0.600
TJP1	ACTN4	psi-mi:“MI:0403”(colocalization)	0.600
SUMO1	CBX4	psi-mi:“MI:0914”(association)	0.600
E	TJP1	psi-mi:“MI:0915”(physical association)	0.590

BioGRID (422): VMP1 (Affinity Capture-Western), VMP1 (Co-localization), TJP1 (Affinity Capture-MS), TJP1 (Affinity Capture-MS), TJP1 (Affinity Capture-MS), TJP1 (Affinity Capture-MS), TJP1 (Affinity Capture-MS), TJP1 (Affinity Capture-MS), TJP1 (Affinity Capture-MS), TJP1 (Affinity Capture-MS), TJP1 (Co-fractionation), TJP1 (Co-fractionation), TJP1 (Co-fractionation), TJP1 (Co-fractionation), TJP2 (Co-fractionation)

ESM2 similar proteins: A0A0G2K2P5, A0JNJ1, B1WAP7, G9CGD6, O14640, O75122, O88382, O95049, O97758, P34908, P39447, P51141, P54792, P70175, Q05AS8, Q07157, Q16825, Q5F488, Q5IS48, Q5SGD7, Q5TCQ9, Q5XI81, Q61062, Q62136, Q62728, Q62936, Q6DKE2, Q6P9H4, Q6ZM86, Q812E4, Q86UL8, Q8BMA3, Q8IVH8, Q8JHI3, Q8TDW5, Q920B0, Q924I2, Q925T6, Q92997, Q95168

Diamond homologs: A0A0G2K2P5, A0A8P0N4K0, C5IAW9, F1LW30, O08721, O08722, O08747, O62683, O95049, O95185, O97758, P39447, P57105, Q07157, Q0P5E6, Q13424, Q28626, Q32LE7, Q3T0C9, Q5EBL8, Q5ZIK2, Q61234, Q6NXB2, Q6QA76, Q6R653, Q6UXZ4, Q6ZN44, Q761X5, Q7KRY7, Q7T2Z5, Q80VW5, Q86UL8, Q8IV45, Q8IZJ1, Q8JGT4, Q8K1S2, Q8K1S3, Q8K1S4, Q95168, Q9CZG9

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
TJP1	“up-regulates activity”	NHS	binding
TJP1	“up-regulates activity”	ARVCF	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 212 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
Activation of BAD and translocation to mitochondria	7	37.3×	7e-08
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	7	32.9×	9e-08
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	7	32.9×	9e-08
Activation of BH3-only proteins	7	24.3×	8e-07
RHO GTPases activate PKNs	8	17.8×	9e-07
Intrinsic Pathway for Apoptosis	7	14.3×	2e-05
Gap junction assembly	6	12.3×	2e-04
FOXO-mediated transcription	5	11.7×	1e-03

GO biological processes:

GO term	Partners	Fold	FDR
intracellular protein localization	12	6.7×	4e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	174
Likely benign	16
Benign	10

Top pathogenic / likely-pathogenic (0)

SpliceAI

5095 predictions. Top by Δscore:

Variant	Effect	Δscore
15:29705523:TTTAC:T	donor_loss	1.0000
15:29705525:TA:T	donor_loss	1.0000
15:29705526:A:AT	donor_loss	1.0000
15:29705527:CCTTT:C	donor_gain	1.0000
15:29705741:AAGGA:A	acceptor_gain	1.0000
15:29705742:AGGA:A	acceptor_gain	1.0000
15:29705743:GGA:G	acceptor_gain	1.0000
15:29705744:GA:G	acceptor_gain	1.0000
15:29705746:C:CC	acceptor_gain	1.0000
15:29710817:T:TA	donor_gain	1.0000
15:29710999:CCCTG:C	acceptor_loss	1.0000
15:29711000:CCTGT:C	acceptor_loss	1.0000
15:29711001:C:CA	acceptor_loss	1.0000
15:29711002:T:C	acceptor_loss	1.0000
15:29716609:A:AC	donor_gain	1.0000
15:29716610:C:CC	donor_gain	1.0000
15:29716837:TC:T	acceptor_gain	1.0000
15:29716838:CC:C	acceptor_gain	1.0000
15:29716839:C:CC	acceptor_gain	1.0000
15:29716849:A:AC	acceptor_gain	1.0000
15:29716849:A:C	acceptor_gain	1.0000
15:29718261:TTTA:T	donor_loss	1.0000
15:29718263:TA:T	donor_loss	1.0000
15:29718265:CCTTA:C	donor_loss	1.0000
15:29720356:ACCT:A	donor_loss	1.0000
15:29726374:CTTAC:C	donor_loss	1.0000
15:29726375:TTA:T	donor_loss	1.0000
15:29726376:TACC:T	donor_loss	1.0000
15:29726377:A:T	donor_loss	1.0000
15:29726378:CCTTT:C	donor_gain	1.0000

AlphaMissense

10972 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:29701611:A:G	L1744P	1.000
15:29701614:A:T	V1743D	1.000
15:29704236:A:G	L1713P	1.000
15:29705578:A:G	F1673S	1.000
15:29705629:A:C	I1656R	1.000
15:29705629:A:T	I1656K	1.000
15:29705631:A:C	S1655R	1.000
15:29705631:A:T	S1655R	1.000
15:29705633:T:G	S1655R	1.000
15:29705656:A:G	L1647P	1.000
15:29705677:A:G	F1640S	1.000
15:29705689:G:T	A1636D	1.000
15:29720588:C:G	D845H	1.000
15:29726394:C:A	W799C	1.000
15:29726394:C:G	W799C	1.000
15:29726396:A:G	W799R	1.000
15:29726396:A:T	W799R	1.000
15:29726434:A:G	L786P	1.000
15:29726447:A:G	W782R	1.000
15:29726447:A:T	W782R	1.000
15:29726789:A:G	L768P	1.000
15:29726810:A:G	L761P	1.000
15:29726837:C:A	R752M	1.000
15:29726842:A:C	S750R	1.000
15:29726842:A:T	S750R	1.000
15:29726844:T:G	S750R	1.000
15:29726872:T:A	R740S	1.000
15:29726872:T:G	R740S	1.000
15:29726873:C:G	R740T	1.000
15:29726895:T:C	K733E	1.000

dbSNP variants (sampled 300 via entrez): RS1000006477 (15:29866503 A>T), RS1000014429 (15:29805764 T>C), RS1000051309 (15:29917647 G>A), RS1000052937 (15:29745196 C>T), RS1000056857 (15:29937278 C>G,T), RS1000060003 (15:29824159 T>C), RS1000070302 (15:29829699 AT>A,ATT), RS1000073695 (15:29703199 C>A), RS1000090514 (15:29823915 G>A,T), RS1000099466 (15:29816340 A>C), RS1000100122 (15:29956992 T>C), RS1000105308 (15:29792334 C>T), RS1000106717 (15:29872855 G>T), RS1000107722 (15:29711237 T>C), RS1000113711 (15:29914513 A>G,T)

Disease associations

OMIM: gene MIM:601009 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
arrhythmogenic right ventricular cardiomyopathy	Limited	Autosomal dominant

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
arrhythmogenic right ventricular cardiomyopathy	Limited	AD

Mondo (2): dilated cardiomyopathy (MONDO:0005021), arrhythmogenic right ventricular cardiomyopathy (MONDO:0016587)

Orphanet (1): Dilated cardiomyopathy (Orphanet:217604)

HPO phenotypes

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

HPO	Term
HP:0001644	Dilated cardiomyopathy

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST001773_8	Response to antipsychotic treatment	2.000000e-07
GCST001806_20	Corneal structure	3.000000e-11
GCST005667_35	Central corneal thickness	6.000000e-12
GCST008317_6	Central corneal thickness	1.000000e-06
GCST009414_26	Central corneal thickness	3.000000e-12
GCST90000654_57	Central corneal thickness	1.000000e-19
GCST90016667_40	Spleen volume	3.000000e-08

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004345	corneal topography
EFO:0005213	central corneal thickness

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D019571	Arrhythmogenic Right Ventricular Dysplasia	C14.240.400.145; C14.280.238.028; C14.280.400.145; C16.131.240.400.145
D002311	Cardiomyopathy, Dilated	C14.280.195.160; C14.280.238.070; C16.320.488.750

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4296026 (SINGLE PROTEIN)

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

PharmGKB clinical annotations

3 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs711355	Efficacy	3	risperidone	Schizophrenia
rs785423	Efficacy	3	risperidone	Schizophrenia
rs813676	Efficacy	3	risperidone	Schizophrenia

PharmGKB variants

3 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs711355	TJP1	3	0.00	1	risperidone
rs785423	TJP1	3	0.00	1	risperidone
rs813676	TJP1	3	0.00	1	risperidone

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Particulate Matter	increases expression, decreases expression, decreases reaction, affects reaction, affects localization	9
bisphenol A	affects localization, decreases expression, increases expression	6
sodium arsenite	decreases expression, decreases reaction, increases abundance, affects expression, affects binding (+2 more)	5
Quercetin	increases phosphorylation, affects localization, decreases expression, decreases reaction	5
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	decreases expression, decreases reaction, increases expression, affects cotreatment	4
Ethanol	affects localization, decreases expression, decreases reaction	4
Lipopolysaccharides	decreases reaction, affects cotreatment, increases reaction, decreases expression	4
decabromobiphenyl ether	decreases reaction, increases expression, decreases expression	3
bisphenol S	increases expression, affects reaction, decreases expression	3
Acetylcysteine	affects cotreatment, decreases expression, decreases reaction	3
Glucose	decreases expression, decreases reaction, affects cotreatment	3
Hydrogen Peroxide	affects expression, decreases expression, decreases reaction	3
Paraquat	decreases expression, decreases reaction, affects reaction	3
Tobacco Smoke Pollution	affects expression, increases expression	3
Cyclosporine	affects localization, increases expression	3
Cadmium Chloride	affects localization, decreases reaction, decreases expression, increases expression	3
N-(1,2,3,5,6,7-hexahydro-S-indacen-4-ylcarbamoyl)-4-(2-hydroxy-2-propanyl)-2-furansulfonamide	decreases expression, decreases reaction	2
perfluorooctanoic acid	affects cotreatment, affects expression, decreases expression, increases abundance	2
bisindolylmaleimide I	affects localization, decreases reaction, increases expression	2
perfluorooctane sulfonic acid	affects expression, affects cotreatment, decreases expression	2
2-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one	decreases expression, decreases reaction	2
2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one	decreases reaction, decreases expression	2
3-(4-methylphenylsulfonyl)-2-propenenitrile	decreases expression, decreases reaction, affects localization, increases reaction	2
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	2
LDN 193189	affects cotreatment, decreases expression, increases expression	2
Telmisartan	affects localization, decreases reaction, decreases expression, affects cotreatment, affects reaction	2
Acetaldehyde	affects localization, decreases reaction, affects reaction	2
Arsenic	decreases expression, decreases reaction, increases abundance, affects cotreatment, affects expression	2
Benzo(a)pyrene	increases expression	2
Blood Glucose	decreases reaction, increases degradation, increases reaction, decreases expression, affects cotreatment	2

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL4119002	Binding	Binding affinity to TJP1 in human NCI-H358 cells at 1 uM by mass spectrometry based pull down assay	Studies of TAK1-centered polypharmacology with novel covalent TAK1 inhibitors. — Bioorg Med Chem

Cellosaurus cell lines

3 cell lines: 3 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B2IL	Abcam HeLa TJP1 KO	Cancer cell line	Female
CVCL_TS45	HAP1 TJP1 (-) 1	Cancer cell line	Male
CVCL_XU28	HAP1 TJP1 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

185 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
NCT03593317	PHASE2	RECRUITING	Blockade of the Renin-angiotensin-aldosterone System in Patients With ARVD
NCT03685149	PHASE2	COMPLETED	Pilot Randomized Trial With Flecainide in ARVC Patients
NCT06174220	PHASE2	RECRUITING	Targeted Therapy With Glycogen Synthase Kinase-3 Inhibition for Arrhythmogenic Cardiomyopathy
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
NCT06228924	PHASE1	RECRUITING	Open-label, Dose Escalation Study of Safety and Preliminary Efficacy of TN-401 in Adults With PKP2 Mutation-associated ARVC
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.