CTNND1

Summary

CTNND1 (catenin delta 1, HGNC:2515) is a protein-coding gene on chromosome 11q12.1, encoding Catenin delta-1 (O60716). Key regulator of cell-cell adhesion that associates with and regulates the cell adhesion properties of both C-, E- and N-cadherins, being critical for their surface stability.

This gene encodes a member of the Armadillo protein family, which function in adhesion between cells and signal transduction. Multiple translation initiation codons and alternative splicing result in many different isoforms being translated. Not all of the full-length natures of the described transcript variants have been determined. Read-through transcription also exists between this gene and the neighboring upstream thioredoxin-related transmembrane protein 2 (TMX2) gene.

Source: NCBI Gene 1500 — RefSeq curated summary.

At a glance

• Gene–disease (curated): blepharocheilodontic syndrome 2 (Definitive, ClinGen) — +1 more curated relationship
• GWAS associations: 15
• Clinical variants (ClinVar): 258 total — 20 pathogenic, 16 likely-pathogenic
• Phenotypes (HPO): 23
• Druggable target: yes
• MANE Select transcript: NM_001085458

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2515
Approved symbol	CTNND1
Name	catenin delta 1
Location	11q12.1
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0384, p120, p120cas, p120ctn
Ensembl gene	ENSG00000198561
Ensembl biotype	protein_coding
OMIM	601045
Entrez	1500

Gene structure

Transcript identifiers

Ensembl transcripts: 84 — 71 protein_coding, 11 retained_intron, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000358694, ENST00000361332, ENST00000361391, ENST00000361796, ENST00000399050, ENST00000415361, ENST00000426142, ENST00000428599, ENST00000524630, ENST00000525821, ENST00000525902, ENST00000526357, ENST00000526772, ENST00000526938, ENST00000527467, ENST00000527599, ENST00000528232, ENST00000528621, ENST00000529526, ENST00000529873, ENST00000529919, ENST00000529986, ENST00000530068, ENST00000530094, ENST00000530720, ENST00000530748, ENST00000531007, ENST00000531014, ENST00000532245, ENST00000532463, ENST00000532649, ENST00000532787, ENST00000532844, ENST00000533189, ENST00000533667, ENST00000534579, ENST00000673661, ENST00000673683, ENST00000673826, ENST00000674015, ENST00000674106, ENST00000681984, ENST00000682621, ENST00000682741, ENST00000682814, ENST00000682974, ENST00000683201, ENST00000683510, ENST00000683769, ENST00000683906, ENST00000684035, ENST00000684704, ENST00000901414, ENST00000901415, ENST00000901416, ENST00000901417, ENST00000901418, ENST00000901419, ENST00000901420, ENST00000901421, ENST00000901422, ENST00000901423, ENST00000901424, ENST00000901425, ENST00000901426, ENST00000901427, ENST00000901428, ENST00000901429, ENST00000901430, ENST00000901431, ENST00000901432, ENST00000901433, ENST00000921787, ENST00000921788, ENST00000921789, ENST00000921790, ENST00000921791, ENST00000921792, ENST00000955216, ENST00000955217, ENST00000955218, ENST00000955219, ENST00000955220, ENST00000955221

RefSeq mRNA: 22 — MANE Select: NM_001085458 NM_001085458, NM_001085459, NM_001085460, NM_001085461, NM_001085462, NM_001085463, NM_001085464, NM_001085465, NM_001085466, NM_001085467, NM_001085468, NM_001085469, NM_001206883, NM_001206884, NM_001206885, NM_001206886, NM_001206887, NM_001206888, NM_001206889, NM_001206890, NM_001206891, NM_001331

CCDS: CCDS44604, CCDS44605, CCDS44606, CCDS44607, CCDS44608, CCDS44609, CCDS53632, CCDS53633, CCDS53634, CCDS55763, CCDS55764, CCDS55765, CCDS55766, CCDS55767, CCDS73290

Canonical transcript exons

ENST00000399050 — 21 exons

Exon	Start	End
ENSE00001174123	57808165	57808292
ENSE00001189241	57815394	57815500
ENSE00001189247	57814311	57814373
ENSE00001189253	57811399	57811486
ENSE00001189256	57810109	57810223
ENSE00001189261	57809274	57809466
ENSE00001189265	57808390	57808540
ENSE00001189275	57806915	57806983
ENSE00001189283	57805882	57806035
ENSE00001189288	57804663	57804780
ENSE00001189291	57803621	57803804
ENSE00001412711	57815915	57816001
ENSE00001605293	57796457	57796992
ENSE00002501739	57806461	57806478
ENSE00003459623	57795577	57795729
ENSE00003469970	57794010	57794081
ENSE00003476489	57791385	57791673
ENSE00003526203	57789037	57789155
ENSE00003535612	57801733	57802196
ENSE00003896503	57816297	57819540
ENSE00003897692	57761802	57762119

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 98.89.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 58.0280 / max 1161.4076, expressed in 1733 samples.

FANTOM5 promoters (12 alternative TSS)

Promoter ID	TPM avg	Samples expressed
114325	49.7726	1728
114326	5.9375	1473
114328	0.6987	423
114329	0.4851	269
114327	0.3713	184
114337	0.2222	42
114330	0.1833	59
114334	0.1273	40
206290	0.0819	37
114335	0.0781	24

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ventricular zone	UBERON:0003053	98.89	gold quality
esophagus mucosa	UBERON:0002469	98.62	gold quality
lower esophagus mucosa	UBERON:0035834	98.35	gold quality
colonic epithelium	UBERON:0000397	98.24	gold quality
placenta	UBERON:0001987	98.08	gold quality
zone of skin	UBERON:0000014	98.05	gold quality
skin of abdomen	UBERON:0001416	98.05	gold quality
skin of leg	UBERON:0001511	98.01	gold quality
rectum	UBERON:0001052	97.95	gold quality
body of pancreas	UBERON:0001150	97.93	gold quality
minor salivary gland	UBERON:0001830	97.91	gold quality
saliva-secreting gland	UBERON:0001044	97.83	gold quality
sural nerve	UBERON:0015488	97.83	gold quality
vagina	UBERON:0000996	97.76	gold quality
duodenum	UBERON:0002114	97.67	gold quality
transverse colon	UBERON:0001157	97.61	gold quality
thyroid gland	UBERON:0002046	97.57	gold quality
left lobe of thyroid gland	UBERON:0001120	97.53	gold quality
right lobe of thyroid gland	UBERON:0001119	97.52	gold quality
pancreas	UBERON:0001264	97.49	gold quality
endometrium	UBERON:0001295	97.49	gold quality
right lung	UBERON:0002167	97.42	gold quality
mucosa of transverse colon	UBERON:0004991	97.34	gold quality
right uterine tube	UBERON:0001302	97.31	gold quality
tonsil	UBERON:0002372	97.31	gold quality
stomach	UBERON:0000945	97.22	gold quality
lung	UBERON:0002048	97.22	gold quality
ganglionic eminence	UBERON:0004023	97.19	gold quality
thoracic mammary gland	UBERON:0005200	97.17	gold quality
body of stomach	UBERON:0001161	97.15	gold quality

Single-cell (SCXA)

Detected in 8 experiment(s), a significant marker in 6.

Experiment	Marker?	Max mean expression
E-CURD-114	yes	61.60
E-MTAB-6701	yes	29.12
E-MTAB-6678	yes	12.99
E-MTAB-9067	yes	6.53
E-MTAB-10553	yes	6.45
E-HCAD-11	no	1614.88
E-CURD-112	no	2.82
E-ANND-3	no	0.00

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

1 targets.

Target	Regulation
MMP7	Unknown

Upstream regulators (CollecTRI, top): E4F1, EOMES, FOS, FOXC2, GATA5, IRF1, PAX6, SP1, TP53, ZBTB33

miRNA regulators (miRDB)

192 targeting CTNND1, 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-513A-5P	100.00	69.77	2465
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-4425	100.00	67.59	1049
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-590-3P	99.96	74.34	6478

Literature-anchored findings (GeneRIF, showing 40)

• The interaction of VE-cadherin with p120 catenin plays an important role in cellular growth, suggesting that the binding of p120 catenin to cadherins may regulate cell proliferation. (PMID:11855855)
• Overexpression of delta catenin is associated with prostatic adenocarcinoma (PMID:12115574)
• These data reveal a cooperative interaction between p120 catenin and E-cadherin and a novel role for p120 that is likely indispensable in normal cells. (PMID:12427869)
• roles of p120 as a tumor suppressor or metastasis promoter are discussed (review) (PMID:12492499)
• Both p120(ctn)-defective tumor cell contacts and p120(ctn)-mediated growth signals appear to contribute to the aggressive spread of pancreatic cancer. (PMID:12671892)
• study links posttranslational modifications of VEC, beta-catenin, and p120 to the mechanism of thrombin-induced increase in endothelial permeability (PMID:12740216)
• The data reveal a core function of p120 in cadherin complexes, and strongly predict a dose-dependent loss of E-cadherin in tumors that partially or completely down-regulate p120. (PMID:14610055)
• Cellular levels of p120ctn function as a set point mechanism that regulates cadherin expression levels; a major function of p120ctn is to control cadherin internalization and degradation. (PMID:14610056)
• binding of p120ctn to microtubules is inversely related to its ability to regulate Rho GTPases (PMID:14660598)
• differential expression of p120(ctn) and Kaiso mRNA was observed in human coronary artery endothelial cells depending on how laminar shear stress was applied in relation to the wounding process (PMID:14699141)
• Cytoplasmic p120ctn may contribute to the invasive phenotype of E-cadherin-deficient breast cancer cells (PMID:15161659)
• Galpha12-p120ctn interaction acts as a molecular switch, which regulates cadherin-mediated cell-cell adhesion. (PMID:15240885)
• in human lymphoblasts, the silencing of one allele is incomplete (PMID:15522875)
• E-cadherin-deficiency in metastatic cancer may in some cases be due to p120 downregulation [review] (PMID:15561585)
• Catenin p120ctn inhibits association of Kaiso with the matrilysin promoter. (PMID:15817151)
• Overexpression of P-cadherin was strongly associated with cytoplasmic accumulation of one of the catenins, p120ctn, and cadherin switching in pancreatic ductal carcinoma cells. (PMID:15833838)
• trans-interacting nectin inhibits non-trans-interacting E-cadherin endocytosis through afadin, Rap1, and p120ctn (PMID:15857834)
• These results support a model in which the VE-cadherin tail mediates interactions with clathrin-dependent endocytic machinery, and this endocytic processing is inhibited by p120 binding to the cadherin tail. (PMID:16120645)
• Increased expression of delta-catenin is associated with the down-regulation and redistribution of ECAD and p120ctn in prostatic cancer. (PMID:16226102)
• results indicate that p120ctn plays an important role in regulating the formation of E-cadherin and -catenin complex, cell apoptosis, cell cycle and hepatoma cell biological function (PMID:16534869)
• the degradation of E-cadherin in response to expression of R-cadherin is due to competition for p120(ctn) (PMID:16786001)
• Membrane-localization and not cadherin interaction is the main determinant in p120 serine-threonine phosphorylation-dephosphorylation, further, the phospho-status had no effect on p120’s role in cadherin complex stabilization or cell-cell adhesion. (PMID:16935280)
• p120 catenin and mesenchymal cadherins are both required for invasiveness of E-cadherin-deficient cells; p120 acts as a rheostat, promoting a sessile cell phenotype associated with E-cadherin or a motile phenotype associated with mesenchymal cadherins. (PMID:16982802)
• the recruitment of PI3K to the E-cadherin/beta-catenin/p120-catenin complex via beta-catenin at the plasma membrane is required for calcium-induced phospholipase C-gamma1 activation and, ultimately, keratinocyte differentiation (PMID:17242406)
• In this review, p120 catenins function in the cytoplasm as versatile scaffolds that confer specificity to the complex regulation of Rho-GTPases and direct the spatio-temporal control of Rho-signalling. (PMID:17264675)
• membranous p120 is maintained in invasive squamous cell carcinomas in tumours suggesting that p120 may be important for the collective invasion of tumours cells in vivo (PMID:17334396)
• identification of Gli-similar 2 (Glis2) as a novel binding protein for p120 catenin (PMID:17344476)
• P120CTN was expressed stongly on the cuboidal cell membrane and cytoplasm of both tumor types. In polygonal cells, expression was decreased and mostly cytoplasmic. (PMID:17383052)
• Helicobacter pylori infected gastric epithelial cells showed altered distribution/phosphorylation of p120ctn. (PMID:17509776)
• Cortactin and p120 are shown to directly interact with each other via the cortactin N-terminal region (PMID:17576929)
• We show that a fraction of N-cadherin in a complex with catenins is associated with cholesterol/sphingolipid-rich membrane microdomains in aggressive melanoma cells in vitro and experimental melanomas in vivo. (PMID:17668445)
• These data suggest that serine/threonine phosphorylation of p120 influences the dynamics of E-cadherin in junctions. (PMID:17719574)
• The expression of p120-catenin isoforms was associated with the genomic and transcriptional phenotype of breast cancer cells. (PMID:18032823)
• findings show that p120ctn is a novel interactor of the desmoglein proteins, and may play a role in desmosome remodeling (PMID:18343367)
• the the increased expression of p120 isoform 1 during tumor progression contributes to the invasive phenotype of cadherin-deficient carcinomas and that the N-terminal domain of p120 is a valid therapeutic target (PMID:18407999)
• Report nuclear targeting of beta-catenin and p120ctn during thrombin-induced endothelial barrier dysfunction. (PMID:18490349)
• p120 expression in solid pseudopapillary tumors (SPTs) is abnormal. Loss of E-cadherin is probably consequent on p120 loss or decrease. Aberrations & other alterations of the E-cadherin gene are unlikely to be responsible for loss of E-cadherin in SPTs. (PMID:18550473)
• Reduced expression of P120 catenin in cholangiocarcinoma correlated with tumor clinicopathologic parameters. (PMID:18595142)
• p120-catenin is a key component of the cadherin-gamma-secretase supercomplex (PMID:18632982)
• VE-cad gap formation is required for leukocyte transmigration and identify p120 as a critical intracellular mediator of this process through its regulation of VE-cad expression at junctions. (PMID:18641366)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	ctnnd1	ENSDARG00000078233
mus_musculus	Ctnnd1	ENSMUSG00000034101
rattus_norvegicus	Ctnnd1	ENSRNOG00000030790
drosophila_melanogaster	p120ctn	FBGN0260799
caenorhabditis_elegans		WBGENE00002175

Paralogs (6): PKP2 (ENSG00000057294), PKP1 (ENSG00000081277), ARVCF (ENSG00000099889), PKP4 (ENSG00000144283), CTNND2 (ENSG00000169862), PKP3 (ENSG00000184363)

Protein

Protein identifiers

Catenin delta-1 — O60716 (reviewed: O60716)

Alternative names: Cadherin-associated Src substrate, p120 catenin, p120(cas)

All UniProt accessions (10): A0A669KB05, A0A669KB62, O60716, A0A804HIL4, A0A804HJM1, A0A804HK15, C9JZR2, E9PKL1, E9PKY0, H0YC95

UniProt curated annotations — full annotation on UniProt →

Function. Key regulator of cell-cell adhesion that associates with and regulates the cell adhesion properties of both C-, E- and N-cadherins, being critical for their surface stability. Promotes localization and retention of DSG3 at cell-cell junctions, via its interaction with DSG3. Beside cell-cell adhesion, regulates gene transcription through several transcription factors including ZBTB33/Kaiso2 and GLIS2, and the activity of Rho family GTPases and downstream cytoskeletal dynamics. Implicated both in cell transformation by SRC and in ligand-induced receptor signaling through the EGF, PDGF, CSF-1 and ERBB2 receptors.

Subunit / interactions. Belongs to a multiprotein cell-cell adhesion complex that also contains E-cadherin/CDH1, alpha-catenin/CTNNA1, beta-catenin/CTNNB1, and gamma-catenin/JUP. Component of a cadherin:catenin adhesion complex composed of at least of CDH26, beta-catenin/CTNNB1, alpha-catenin/CTNNA1 and p120 catenin/CTNND1. Binds to the C-terminal fragment of PSEN1 and mutually competes for CDH1. Interacts with ZBTB33. Interacts with GLIS2. Interacts with FER. Interacts with NANOS1 (via N-terminal region). Interacts (via N-terminus) with GNA12; the interaction regulates CDH1-mediated cell-cell adhesion. Interacts with GNA13. Interacts with CCDC85B. Interacts with PLPP3; negatively regulates the PLPP3-mediated stabilization of CTNNB1. Interacts with DSG3; the interaction facilitates DSG3 localization and retention at cell-cell junctions. Interacts with CTNND1/p120-catenin; the interaction controls CADH5 endocytosis.

Subcellular location. Cell junction. Adherens junction. Cytoplasm. Nucleus. Cell membrane. Cell junction Nucleus Nucleus Nucleus Cytoplasm Cytoplasm.

Tissue specificity. Expressed in vascular endothelium. Melanocytes and melanoma cells primarily express the long isoform 1A, whereas keratinocytes express shorter isoforms, especially 3A. The shortest isoform 4A, is detected in normal keratinocytes and melanocytes, and generally lost from cells derived from squamous cell carcinomas or melanomas. The C-terminal alternatively spliced exon B is present in the p120ctn transcripts in the colon, intestine and prostate, but lost in several tumor tissues derived from these organs.

Post-translational modifications. Phosphorylated by FER and other protein-tyrosine kinases. Phosphorylated at Ser-288 by PAK5. Dephosphorylated by PTPRJ.

Disease relevance. Blepharocheilodontic syndrome 2 (BCDS2) [MIM:617681] A form of blepharocheilodontic syndrome, a rare autosomal dominant disorder. It is characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and features of ectodermal dysplasia, including hair anomalies, conical teeth and tooth agenesis. An additional rare manifestation is imperforate anus. There is considerable phenotypic variability among affected individuals. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. A possible nuclear localization signal exists in all isoforms where Asp-626–631-Arg are deleted. ARM repeats 1 to 5 mediate interaction with cadherins.

Induction. Induced in vascular endothelium by wounding. This effect is potentiated by prior laminar shear stress, which enhances wound closure.

Similarity. Belongs to the beta-catenin family.

Isoforms (32)

UniProt ID	Names	Canonical?
O60716-1	1ABC	yes
O60716-2	1AB, p120-1AB
O60716-3	1AC
O60716-4	1BC, p120-1A
O60716-5	1A
O60716-6	1B
O60716-7	1C
O60716-8	1
O60716-9	2ABC
O60716-10	2AB
O60716-11	2AC
O60716-12	2BC
O60716-13	2A
O60716-14	2B
O60716-15	2C
O60716-16	2
O60716-17	3ABC
O60716-18	3AB
O60716-19	3AC
O60716-20	3BC
O60716-21	3A
O60716-22	3B
O60716-23	3C
O60716-24	3
O60716-25	4ABC
O60716-26	4AB
O60716-27	4AC
O60716-28	4BC
O60716-29	4A
O60716-30	4B
O60716-31	4C
O60716-32	4

RefSeq proteins (22): NP_001078927, NP_001078928, NP_001078929, NP_001078930, NP_001078931, NP_001078932, NP_001078933, NP_001078934, NP_001078935, NP_001078936, NP_001078937, NP_001078938, NP_001193812, NP_001193813, NP_001193814, NP_001193815, NP_001193816, NP_001193817, NP_001193818, NP_001193819, NP_001193820, NP_001322 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000225	Armadillo	Repeat
IPR011989	ARM-like	Homologous_superfamily
IPR016024	ARM-type_fold	Homologous_superfamily
IPR028435	Plakophilin/d_Catenin	Family

Pfam: PF00514

UniProt features (152 total): modified residue 58, helix 33, short sequence motif 16, repeat 10, splice variant 6, sequence variant 6, mutagenesis site 5, strand 3, compositionally biased region 3, cross-link 3, region of interest 2, site 2, sequence conflict 2, chain 1, turn 1, coiled-coil region 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
3L6X	X-RAY DIFFRACTION	2.4
3L6Y	X-RAY DIFFRACTION	3

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O60716-F1	65.13	0.40

Functional residue map

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

Catalytic / active sites (2): 401 (essential for interaction with cadherins); 478 (essential for interaction with cadherins)

Post-translational modifications (61): 916, 910, 895, 889, 862, 856, 841, 835, 815, 809, 794, 788, 593, 587, 572, 566, 1, 4, 47, 59 …

Mutagenesis-validated functional residues (5):

Position	Phenotype
363	severely disrupts cadherin interaction.
401	complete loss of cadherin interaction.
444	severely disrupts cadherin interaction.
477	severely disrupts cadherin interaction.
478	complete loss of cadherin interaction.

Function

Pathways and Gene Ontology

Reactome pathways

10 pathways

ID	Pathway
R-HSA-418990	Adherens junctions interactions
R-HSA-5218920	VEGFR2 mediated vascular permeability
R-HSA-8876493	InlA-mediated entry of Listeria monocytogenes into host cells
R-HSA-9762292	Regulation of CDH11 function
R-HSA-9764302	Regulation of CDH19 Expression and Function
R-HSA-9764561	Regulation of CDH1 Function
R-HSA-9766229	Degradation of CDH1
R-HSA-9833576	CDH11 homotypic and heterotypic interactions
R-HSA-9958810	SRC activates STAT3 in a quantitative manner, through Cadherin-11 (CDH11), RAC1 and gp130 (IL6ST)
R-HSA-9958825	Activation of STAT3 by cadherin engagement

MSigDB gene sets: 423 (showing top): GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, TGGTGCT_MIR29A_MIR29B_MIR29C, GOBP_NEGATIVE_REGULATION_OF_TRANSMEMBRANE_TRANSPORT, GOBP_CARBOHYDRATE_TRANSPORT, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_REGULATION_OF_MORPHOGENESIS_OF_A_BRANCHING_STRUCTURE, CCAWYNNGAAR_UNKNOWN, JAEGER_METASTASIS_DN, AREB6_03, MAZ_Q6, GOBP_CELL_MIGRATION_INVOLVED_IN_SPROUTING_ANGIOGENESIS, GOBP_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION, JOHANSSON_GLIOMAGENESIS_BY_PDGFB_DN, GGGTGGRR_PAX4_03, SRF_Q5_01

GO Biological Process (13): negative regulation of transcription by RNA polymerase II (GO:0000122), cell migration involved in sprouting angiogenesis (GO:0002042), negative regulation of D-glucose transmembrane transport (GO:0010829), Wnt signaling pathway (GO:0016055), cell-cell adhesion mediated by cadherin (GO:0044331), protein stabilization (GO:0050821), cell-cell adhesion (GO:0098609), regulation of postsynaptic membrane neurotransmitter receptor levels (GO:0099072), positive regulation of protein localization to cell-cell junction (GO:0150107), negative regulation of intracellular signal transduction (GO:1902532), negative regulation of blood vessel branching (GO:1905554), cell adhesion (GO:0007155), D-glucose transmembrane transport (GO:1904659)

GO Molecular Function (7): signaling receptor binding (GO:0005102), phosphatase inhibitor activity (GO:0019212), phosphatase binding (GO:0019902), cadherin binding (GO:0045296), cell-cell adhesion mediator activity (GO:0098632), protein sequestering activity (GO:0140311), protein binding (GO:0005515)

GO Cellular Component (12): nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829), plasma membrane (GO:0005886), cell-cell junction (GO:0005911), adherens junction (GO:0005912), catenin complex (GO:0016342), midbody (GO:0030496), ciliary basal body (GO:0036064), extracellular exosome (GO:0070062), membrane (GO:0016020), anchoring junction (GO:0070161)

Reactome top-level categories

Rollup of top-10 pathways:

Category	Pathways
Cell-cell junction organization	1
VEGFA-VEGFR2 Pathway	1
Listeria monocytogenes entry into host cells	1
Regulation of CDH11 Expression and Function	1
Regulation of Expression and Function of Type II Classical Cadherins	1
Regulation of CDH1 Expression and Function	1
Regulation of CDH1 Function	1
Regulation of CDH11 function	1
Activation of STAT3 by cadherin engagement	1
Adherens junctions interactions	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
cell-cell adhesion	2
protein binding	2
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
negative regulation of DNA-templated transcription	1
sprouting angiogenesis	1
blood vessel endothelial cell migration	1
regulation of D-glucose transmembrane transport	1
negative regulation of transmembrane transport	1
D-glucose transmembrane transport	1
cell surface receptor signaling pathway	1
regulation of protein stability	1
cell adhesion	1
regulation of biological quality	1
protein localization to cell-cell junction	1
regulation of protein localization to cell-cell junction	1
positive regulation of protein localization	1
negative regulation of signal transduction	1
intracellular signal transduction	1
regulation of intracellular signal transduction	1
branching involved in blood vessel morphogenesis	1
negative regulation of angiogenesis	1
negative regulation of morphogenesis of an epithelium	1
regulation of blood vessel branching	1
cellular process	1
hexose transmembrane transport	1
enzyme inhibitor activity	1
phosphatase activity	1
phosphatase regulator activity	1
enzyme binding	1
cell adhesion molecule binding	1
cell adhesion mediator activity	1
molecular sequestering activity	1
binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cytoplasm	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

2250 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CTNND1	CDH17	Q12864	998
CTNND1	CDH1	P12830	998
CTNND1	ZBTB33	Q86T24	998
CTNND1	CTNNB1	P35222	997
CTNND1	CDH5	P33151	994
CTNND1	CDH2	P19022	993
CTNND1	AFDN	P55196	986
CTNND1	CTNNA1	P35221	964
CTNND1	VAV2	P52735	962
CTNND1	TJP1	Q07157	948
CTNND1	PLEKHA7	Q6IQ23	946
CTNND1	VCL	P18206	944
CTNND1	ARHGAP35	Q9NRY4	943
CTNND1	CDH3	P22223	888
CTNND1	NECTIN1	Q15223	862

IntAct

203 interactions, top by confidence:

A	B	Type	Score
CTNND1	EGFR	psi-mi:“MI:0915”(physical association)	0.750
EGFR	CTNND1	psi-mi:“MI:0914”(association)	0.750
CDH1	CTNND1	psi-mi:“MI:0914”(association)	0.730
CDH1	CTNND1	psi-mi:“MI:0915”(physical association)	0.730
CTNND1	CDH1	psi-mi:“MI:0915”(physical association)	0.730
PTPRJ	CTNND1	psi-mi:“MI:0203”(dephosphorylation reaction)	0.720
CTNND1	PTPRJ	psi-mi:“MI:0915”(physical association)	0.720
PTPRJ	CTNND1	psi-mi:“MI:0403”(colocalization)	0.720
PTPRJ	CTNND1	psi-mi:“MI:0915”(physical association)	0.720
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
TAX1BP3	ARVCF	psi-mi:“MI:0914”(association)	0.690
PLEKHA7	CTNND1	psi-mi:“MI:0914”(association)	0.640
CTNND1	PLEKHA7	psi-mi:“MI:2364”(proximity)	0.640
PLEKHA7	CTNND1	psi-mi:“MI:0915”(physical association)	0.640
PLEKHA7	CTNND1	psi-mi:“MI:0403”(colocalization)	0.640
YWHAG	BLTP3B	psi-mi:“MI:0914”(association)	0.640
YWHAG	BLTP3B	psi-mi:“MI:2364”(proximity)	0.640
KLHL22	METTL15	psi-mi:“MI:0914”(association)	0.640

BioGRID (430): KCTD6 (Two-hybrid), CTNND1 (Affinity Capture-RNA), CTNND1 (Affinity Capture-MS), CTNND1 (Affinity Capture-Western), CTNND1 (Affinity Capture-Western), CTNND1 (Affinity Capture-Western), CTNND1 (Affinity Capture-MS), CTNND1 (Two-hybrid), CTNND1 (Reconstituted Complex), CTNND1 (Affinity Capture-MS), CTNND1 (Affinity Capture-Western), CTNND1 (Reconstituted Complex), CTNND1 (Affinity Capture-MS), CTNND1 (Proximity Label-MS), CTNND1 (Proximity Label-MS)

ESM2 similar proteins: A1L1C7, O08873, O42611, O60716, O94776, O94967, P83094, Q01826, Q0P5J8, Q15542, Q3UHE1, Q3UVG3, Q4R8N2, Q58A45, Q5EY87, Q5JSJ4, Q5M7R9, Q5R7S4, Q5RAR8, Q5TKA1, Q60611, Q640Q5, Q658Y4, Q68FH0, Q6ISB3, Q6NT76, Q6TEP1, Q80U28, Q8BIE6, Q8BJA3, Q8C092, Q8C0V0, Q8C735, Q8C8N2, Q8CGF6, Q8K5C0, Q8N9R8, Q8VI24, Q8WXG6, Q90ZY6

Diamond homologs: B4F7F3, F1M7L9, O00192, O35116, O35927, O60716, P30999, P97350, P98203, Q08DQ0, Q13835, Q28161, Q68FH0, Q8AXM9, Q99569, Q99959, Q9CQ73, Q9QY23, Q9U308, Q9UQB3, Q9Y446, B0BF33, Q9C9A6, A2AAJ9, H2KZ60, O01761, O80742, Q8N9C0

SIGNOR signaling

30 interactions.

A	Effect	B	Mechanism
PRKCE	down-regulates	CTNND1	phosphorylation
CTNND1	down-regulates	ZBTB33
PRKACA	down-regulates	CTNND1	phosphorylation
CTNND1	up-regulates	RAC1	binding
CTNND1	up-regulates	VAV2	binding
CSNK1E	down-regulates	CTNND1	phosphorylation
EGFR	unknown	CTNND1	phosphorylation
CTNND1	“up-regulates quantity by stabilization”	CDH1	binding
CTNND1	“up-regulates quantity by stabilization”	CDH3	binding
CTNND1	“up-regulates quantity by stabilization”	CDH2	binding
CTNND1	“up-regulates quantity by stabilization”	CDH5	binding
PTPRM	“down-regulates quantity”	CTNND1	dephosphorylation
CSNK1A1	“up-regulates activity”	CTNND1	phosphorylation
PRKCA	“down-regulates activity”	CTNND1	phosphorylation
CSF1R	“up-regulates quantity by stabilization”	CTNND1	phosphorylation
SRC	“up-regulates activity”	CTNND1	phosphorylation
GSK3B	unknown	CTNND1	phosphorylation
MAPK1	“down-regulates activity”	CTNND1	phosphorylation
MAPK3	“down-regulates activity”	CTNND1	phosphorylation
SMURF1	“down-regulates activity”	CTNND1	monoubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 174 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
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	7	39.5×	2e-07
Activation of BAD and translocation to mitochondria	6	38.4×	9e-07
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	6	33.9×	2e-06
Activation of BH3-only proteins	6	25.0×	6e-06
RHO GTPases activate PKNs	6	16.0×	5e-05
Signaling by high-kinase activity BRAF mutants	6	16.0×	5e-05
Intrinsic Pathway for Apoptosis	6	14.8×	8e-05
MAP2K and MAPK activation	6	14.4×	9e-05

GO biological processes:

GO term	Partners	Fold	FDR
adherens junction organization	5	16.7×	3e-03
cell-cell adhesion mediated by cadherin	6	16.1×	2e-03
Ras protein signal transduction	7	9.4×	3e-03
intracellular protein localization	10	6.8×	2e-03
positive regulation of MAPK cascade	11	5.8×	2e-03
DNA damage response	12	4.2×	7e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	20
Likely pathogenic	16
Uncertain significance	183
Likely benign	21
Benign	13

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1074253	NC_000011.9:g.(?57558951)(57583780_?)del	Pathogenic
1300537	NM_001085458.2(CTNND1):c.2389C>T (p.Arg797Ter)	Pathogenic
1322171	NM_001085458.2(CTNND1):c.1754del (p.Asn585fs)	Pathogenic
1801206	NM_001085458.2(CTNND1):c.1451C>G (p.Ser484Ter)	Pathogenic
2446376	NM_001085458.2(CTNND1):c.566dup (p.Pro190fs)	Pathogenic
3254974	NM_001085458.2(CTNND1):c.2550+1G>A	Pathogenic
3347102	NM_001085458.2(CTNND1):c.1702C>T (p.Gln568Ter)	Pathogenic
3374728	NM_001085458.2(CTNND1):c.2638+2T>G	Pathogenic
3393546	NM_001085458.2(CTNND1):c.1960C>T (p.Arg654Ter)	Pathogenic
438815	NM_001085458.2(CTNND1):c.2098C>T (p.Arg700Ter)	Pathogenic
438816	NM_001085458.2(CTNND1):c.1093C>T (p.Gln365Ter)	Pathogenic
438817	NM_001085458.2(CTNND1):c.606del (p.Pro203fs)	Pathogenic
4532017	NM_001085458.2(CTNND1):c.2720del (p.Pro907fs)	Pathogenic
4535069	NM_001085458.2(CTNND1):c.638del (p.Tyr213fs)	Pathogenic
4616693	NM_001085458.2(CTNND1):c.718del (p.Arg240fs)	Pathogenic
4819058	NM_001085458.2(CTNND1):c.2479C>T (p.Gln827Ter)	Pathogenic
523857	NM_001085458.2(CTNND1):c.1088G>A (p.Trp363Ter)	Pathogenic
834013	NM_001085458.2(CTNND1):c.937_938del (p.Asp313fs)	Pathogenic
834014	NM_001085458.2(CTNND1):c.2435+1G>T	Pathogenic
834017	NM_001085458.2(CTNND1):c.1750C>T (p.Arg584Trp)	Pathogenic
1306850	NM_001085458.2(CTNND1):c.1180T>C (p.Cys394Arg)	Likely pathogenic
1333575	NM_001085458.2(CTNND1):c.2233G>T (p.Glu745Ter)	Likely pathogenic
2412720	NM_001085458.2(CTNND1):c.506C>G (p.Ser169Ter)	Likely pathogenic
3033012	NM_001085458.2(CTNND1):c.1098dup (p.Glu367fs)	Likely pathogenic
3345385	NM_001085458.2(CTNND1):c.904del (p.Tyr302fs)	Likely pathogenic
3348814	NM_001085458.2(CTNND1):c.2452G>T (p.Glu818Ter)	Likely pathogenic
3775408	NM_001085458.2(CTNND1):c.2737del (p.His913fs)	Likely pathogenic
3901930	NM_001085458.2(CTNND1):c.1722+2T>G	Likely pathogenic
4081301	NM_001085458.2(CTNND1):c.1350_1351del (p.Cys450_Asp451delinsTer)	Likely pathogenic
4291712	NM_001085458.2(CTNND1):c.2076_2077del (p.Ala693fs)	Likely pathogenic

SpliceAI

3277 predictions. Top by Δscore:

Variant	Effect	Δscore
11:57791454:T:TA	acceptor_gain	1.0000
11:57791456:C:CA	acceptor_gain	1.0000
11:57791457:G:A	acceptor_gain	1.0000
11:57791459:C:CA	acceptor_gain	1.0000
11:57793995:T:TA	acceptor_gain	1.0000
11:57795568:T:A	acceptor_gain	1.0000
11:57795571:A:AG	acceptor_gain	1.0000
11:57795572:T:G	acceptor_gain	1.0000
11:57795573:ATAG:A	acceptor_gain	1.0000
11:57795575:A:AG	acceptor_gain	1.0000
11:57795575:A:AT	acceptor_loss	1.0000
11:57795575:AG:A	acceptor_gain	1.0000
11:57795576:G:A	acceptor_loss	1.0000
11:57795576:G:GT	acceptor_gain	1.0000
11:57795576:GG:G	acceptor_gain	1.0000
11:57795576:GGAT:G	acceptor_gain	1.0000
11:57795576:GGATC:G	acceptor_gain	1.0000
11:57795739:GAC:G	donor_gain	1.0000
11:57795742:GTGT:G	donor_gain	1.0000
11:57795756:G:GT	donor_gain	1.0000
11:57796449:A:AG	acceptor_gain	1.0000
11:57796450:C:G	acceptor_gain	1.0000
11:57796452:T:TA	acceptor_gain	1.0000
11:57796452:TGCA:T	acceptor_loss	1.0000
11:57796453:GCAG:G	acceptor_loss	1.0000
11:57796455:A:AG	acceptor_gain	1.0000
11:57796455:AG:A	acceptor_gain	1.0000
11:57796456:G:GC	acceptor_gain	1.0000
11:57796456:GG:G	acceptor_gain	1.0000
11:57796456:GGT:G	acceptor_gain	1.0000

AlphaMissense

6307 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:57791534:A:C	Q19P	1.000
11:57791545:T:C	F23L	1.000
11:57791546:T:C	F23S	1.000
11:57791546:T:G	F23C	1.000
11:57791547:T:A	F23L	1.000
11:57791547:T:G	F23L	1.000
11:57791555:T:C	L26P	1.000
11:57791561:G:C	R28P	1.000
11:57791563:G:C	A29P	1.000
11:57791567:T:C	L30P	1.000
11:57791579:G:C	R34P	1.000
11:57801900:T:A	L375H	1.000
11:57801921:T:A	V382D	1.000
11:57801945:T:C	L390P	1.000
11:57801958:C:G	C394W	1.000
11:57801977:A:G	K401E	1.000
11:57801979:G:C	K401N	1.000
11:57801979:G:T	K401N	1.000
11:57801990:G:C	R405P	1.000
11:57802001:G:C	G409R	1.000
11:57802014:T:C	L413P	1.000
11:57802014:T:G	L413R	1.000
11:57802071:T:A	L432H	1.000
11:57802071:T:C	L432P	1.000
11:57802078:T:A	N434K	1.000
11:57802078:T:G	N434K	1.000
11:57802116:T:A	I447K	1.000
11:57802131:G:A	G452D	1.000
11:57802143:T:C	L456P	1.000
11:57803627:T:C	L476P	1.000

dbSNP variants (sampled 300 via entrez): RS1000045935 (11:57765062 C>T), RS1000050338 (11:57795807 A>G), RS1000104743 (11:57771369 G>C), RS1000163245 (11:57809325 A>G), RS1000210171 (11:57811985 A>G), RS1000236429 (11:57805389 A>C,G), RS1000241782 (11:57778961 G>C), RS1000297477 (11:57772508 C>A,G,T), RS1000358599 (11:57797858 A>C), RS1000362299 (11:57818452 G>T), RS1000374097 (11:57799395 T>TA), RS1000422515 (11:57792142 A>G), RS1000527280 (11:57815029 G>A), RS1000564888 (11:57759853 C>A,T), RS1000649226 (11:57765330 T>A)

Disease associations

OMIM: gene MIM:601045 | disease phenotypes: MIM:617681, MIM:204100

GenCC curated gene-disease

Disease	Classification	Inheritance
blepharocheilodontic syndrome 2	Definitive	Autosomal dominant
blepharocheilodontic syndrome	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
blepharocheilodontic syndrome 2	Definitive	AD

Mondo (3): blepharocheilodontic syndrome 2 (MONDO:0040503), Leber congenital amaurosis 2 (MONDO:0008765), blepharocheilodontic syndrome (MONDO:0007339)

Orphanet (2): Leber congenital amaurosis (Orphanet:65), Cleft lip with or without cleft palate (Orphanet:1991)

HPO phenotypes

23 total (23 of 23 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000316	Hypertelorism
HP:0000324	Facial asymmetry
HP:0000348	High forehead
HP:0000405	Conductive hearing impairment
HP:0000478	Abnormality of the eye
HP:0000492	Abnormal eyelid morphology
HP:0000504	Abnormality of vision
HP:0000670	Carious teeth
HP:0000698	Conical tooth
HP:0002023	Anal atresia
HP:0002164	Nail dysplasia
HP:0006101	Finger syndactyly
HP:0007651	Ectropion of lower eyelids
HP:0009743	Distichiasis
HP:0009804	Tooth agenesis
HP:0011362	Abnormal hair quantity
HP:0012368	Flat face
HP:0012725	Cutaneous syndactyly
HP:0012905	Euryblepharon
HP:0030001	Lagophthalmos
HP:0200040	Epidermoid cyst
HP:0410030	Cleft lip

GWAS associations

15 associations (top):

Study	Trait	p-value
GCST002539_6	Schizophrenia	2.000000e-09
GCST003984_15	Parkinson’s disease	2.000000e-09
GCST004521_290	Autism spectrum disorder or schizophrenia	5.000000e-08
GCST005232_71	Neuroticism	7.000000e-11
GCST006803_71	Schizophrenia	1.000000e-09
GCST007095_31	Systolic blood pressure	5.000000e-07
GCST007095_32	Systolic blood pressure	1.000000e-06
GCST007096_134	Pulse pressure	1.000000e-11
GCST007097_63	Pulse pressure	4.000000e-06
GCST007099_137	Systolic blood pressure	2.000000e-13
GCST007269_200	Pulse pressure	7.000000e-11
GCST009524_301	Household income (MTAG)	1.000000e-09
GCST009600_99	Anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, or Tourette syndrome (pleiotropy)	1.000000e-10
GCST90002386_352	High light scatter reticulocyte percentage of red cells	2.000000e-10
GCST90002406_369	Reticulocyte fraction of red cells	3.000000e-12

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0007660	neuroticism measurement
EFO:0006335	systolic blood pressure
EFO:0005763	pulse pressure measurement
EFO:0009695	household income

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
C536601	Amaurosis congenita of Leber, type 2 (supp.)
C536188	Blepharo-cheilo-dontic syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6066403 (SINGLE PROTEIN)

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

ChEMBL bioactivities

2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.23	Kd	58.77	nM	CHEMBL5653589
7.23	ED50	58.77	nM	CHEMBL5653589

PubChem BioAssay actives

1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148171: Binding affinity to human CTNND1 incubated for 45 mins by Kinobead based pull down assay	kd	0.0588	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects expression, increases expression, affects cotreatment	4
sodium arsenite	affects cotreatment, decreases expression, increases abundance	3
Valproic Acid	affects cotreatment, increases expression, affects expression, decreases expression	3
Cadmium Chloride	decreases expression, increases expression	3
Resveratrol	affects cotreatment, decreases expression, increases expression	2
Air Pollutants	affects cotreatment, increases abundance, increases expression, increases oxidation, decreases expression	2
Hydrogen Peroxide	affects expression, increases expression	2
Methotrexate	decreases expression, increases expression	2
GSK-J4	increases expression	1
FR900359	affects phosphorylation	1
2,4,6-tribromophenol	decreases expression	1
alpha-pinene	affects cotreatment, increases expression, increases oxidation, increases abundance	1
sodium arsenate	decreases expression	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, decreases expression	1
mangiferin	decreases reaction, affects localization, decreases expression	1
beta-lapachone	increases expression	1
sulforaphane	increases expression	1
cobaltous chloride	decreases expression	1
butyraldehyde	decreases expression	1
tetrabromobisphenol A	decreases expression	1
3,4,5,3’,4’-pentachlorobiphenyl	decreases expression	1
perfluorooctanoic acid	decreases expression	1
ochratoxin A	decreases acetylation, decreases expression	1
coumarin	affects phosphorylation	1
methacrylaldehyde	increases expression, increases oxidation, increases abundance, affects cotreatment	1
2,3,5-(triglutathion-S-yl)hydroquinone	decreases ADP-ribosylation	1
deguelin	decreases expression	1
fenpyroximate	decreases expression	1
4-chloro-N-((4-(1,1-dimethylethyl)phenyl)methyl)-3-ethyl-1-methyl-1H-pyrazole-5-carboxamide	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5651213	Binding	Binding affinity to human CTNND1 incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT07133464	Not specified	RECRUITING	CDH1-associated Blepharocheilodontic Syndrome Registry
NCT03655223	Not specified	ENROLLING_BY_INVITATION	Early Check: Expanded Screening in Newborns
NCT04525261	Not specified	COMPLETED	Natural History of Patients With Inherited Retinal Diseases Due to Mutations in RPE65 Gene