Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer

Pathway network for the Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer SuperPath

Sources:

Reactome

Pathways in the Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer SuperPath

#	Name	Source	Genes
1	Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer	Reactome	ATP1B4 CCNC CCNK CCNT1 CCNT2 CDK8 CDK9 CDKN2B COL1A2 E2F4 E2F5 EP300 FURIN HDAC1 JUNB MAPK1 MAPK3 MEN1 MYC NCOR1 NCOR2 NEDD4L PARP1 PPM1A RBL1 RNF111 RPS27A SERPINE1 SKI SKIL SMAD2 SMAD3 SMAD4 SMAD7 SMURF2 SNW1 SP1 STAT1 TFDP1 TFDP2 TGIF1 TGIF2 TRIM33 UBA52 UBB UBC UBE2D1 UBE2D3 USP9X WWTR1 YBX1 (see all 51) (see less)
2	SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription	Reactome	CCNC CCNK CCNT1 CCNT2 CDK8 CDK9 CDKN2B COL1A2 E2F4 E2F5 EP300 FURIN HDAC1 JUNB MAPK1 MAPK3 MEN1 MYC RBL1 RNF111 RPS27A SERPINE1 SMAD2 SMAD3 SMAD4 SMAD7 SP1 TFDP1 TFDP2 TGIF1 TGIF2 UBA52 UBB UBC WWTR1 YBX1 (see all 36) (see less)
3	Downregulation of SMAD2/3:SMAD4 transcriptional activity	Reactome	ATP1B4 HDAC1 MAPK1 MAPK3 NCOR1 NCOR2 NEDD4L PARP1 PPM1A RNF111 RPS27A SKI SKIL SMAD2 SMAD3 SMAD4 SMAD7 SMURF2 SNW1 STAT1 TGIF1 TGIF2 TRIM33 UBA52 UBB UBC UBE2D1 UBE2D3 USP9X WWTR1 (see all 30) (see less)

Gene overlap in member pathways for Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer SuperPath

Ordered by rank within the SuperPath, via the multiplicity of each gene in the constituent pathways

#	Symbol	Description	Category	# Related Pathways
1	WWTR1	WW Domain Containing Transcription Regulator 1	Protein Coding	3
2	HDAC1	Histone Deacetylase 1	Protein Coding	3
3	SMAD2	SMAD Family Member 2	Protein Coding	3
4	SMAD3	SMAD Family Member 3	Protein Coding	3
5	SMAD4	SMAD Family Member 4	Protein Coding	3
6	SMAD7	SMAD Family Member 7	Protein Coding	3
7	RNF111	Ring Finger Protein 111	Protein Coding	3
8	MAPK1	Mitogen-Activated Protein Kinase 1	Protein Coding	3
9	MAPK3	Mitogen-Activated Protein Kinase 3	Protein Coding	3
10	TGIF2	TGFB Induced Factor Homeobox 2	Protein Coding	3
11	RPS27A	Ribosomal Protein S27a	Protein Coding	3
12	TGIF1	TGFB Induced Factor Homeobox 1	Protein Coding	3
13	UBA52	Ubiquitin A-52 Residue Ribosomal Protein Fusion Product 1	Protein Coding	3
14	UBB	Ubiquitin B	Protein Coding	3
15	UBC	Ubiquitin C	Protein Coding	3
16	CDK8	Cyclin Dependent Kinase 8	Protein Coding	2
17	CDK9	Cyclin Dependent Kinase 9	Protein Coding	2
18	CDKN2B	Cyclin Dependent Kinase Inhibitor 2B	Protein Coding	2
19	COL1A2	Collagen Type I Alpha 2 Chain	Protein Coding	2
20	PARP1	Poly(ADP-Ribose) Polymerase 1	Protein Coding	2
21	E2F4	E2F Transcription Factor 4	Protein Coding	2
22	E2F5	E2F Transcription Factor 5	Protein Coding	2
23	EP300	EP300 Lysine Acetyltransferase	Protein Coding	2
24	SNW1	SNW Domain Containing 1	Protein Coding	2
25	NEDD4L	NEDD4 Like E3 Ubiquitin Protein Ligase	Protein Coding	2
26	ATP1B4	ATPase Na+/K+ Transporting Family Member Beta 4	Protein Coding	2
27	JUNB	JunB Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	2
28	MEN1	Menin 1	Protein Coding	2
29	MYC	MYC Proto-Oncogene, BHLH Transcription Factor	Protein Coding	2
30	YBX1	Y-Box Binding Protein 1	Protein Coding	2
31	FURIN	Furin, Paired Basic Amino Acid Cleaving Enzyme	Protein Coding	2
32	SERPINE1	Serpin Family E Member 1	Protein Coding	2
33	TRIM33	Tripartite Motif Containing 33	Protein Coding	2
34	PPM1A	Protein Phosphatase, Mg2+/Mn2+ Dependent 1A	Protein Coding	2
35	RBL1	RB Transcriptional Corepressor Like 1	Protein Coding	2
36	SMURF2	SMAD Specific E3 Ubiquitin Protein Ligase 2	Protein Coding	2
37	SKI	SKI Proto-Oncogene	Protein Coding	2
38	SKIL	SKI Like Proto-Oncogene	Protein Coding	2
39	SP1	Sp1 Transcription Factor	Protein Coding	2
40	STAT1	Signal Transducer And Activator Of Transcription 1	Protein Coding	2
41	TFDP1	Transcription Factor Dp-1	Protein Coding	2
42	TFDP2	Transcription Factor Dp-2	Protein Coding	2
43	UBE2D1	Ubiquitin Conjugating Enzyme E2 D1	Protein Coding	2
44	UBE2D3	Ubiquitin Conjugating Enzyme E2 D3	Protein Coding	2
45	USP9X	Ubiquitin Specific Peptidase 9 X-Linked	Protein Coding	2
46	CCNK	Cyclin K	Protein Coding	2
47	CCNC	Cyclin C	Protein Coding	2
48	CCNT1	Cyclin T1	Protein Coding	2
49	CCNT2	Cyclin T2	Protein Coding	2
50	NCOR1	Nuclear Receptor Corepressor 1	Protein Coding	2
51	NCOR2	Nuclear Receptor Corepressor 2	Protein Coding	2

Disorders associated with Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Familial thoracic aortic aneurysm and aortic dissection	Enrichment	SKI, SMAD2, SMAD3, SMAD4	5.61
2	Pseudomyogenic hemangioendothelioma	Enrichment	SERPINE1, WWTR1	4.39
3	Multiple endocrine neoplasia, type i	Enrichment	CDKN2B, MEN1	3.85
4	Loeys-dietz syndrome	Enrichment	SMAD2, SMAD3	3.77
5	Heart, malformation of	Enrichment	CDK8, MAPK1	2.99
6	Ehlers-danlos syndrome	Enrichment	COL1A2, SMAD3	2.94
7	Intellectual developmental disorder, x-linked 99	Enrichment	USP9X	2.66
8	Holoprosencephaly 4	Enrichment	TGIF1	2.66
9	Shprintzen-goldberg craniosynostosis syndrome	Enrichment	SKI	2.66
10	Noonan syndrome 13	Enrichment	MAPK1	2.66
11	Intellectual developmental disorder, x-linked 99, syndromic, female-restricted	Enrichment	USP9X	2.66
12	Immunodeficiency 31a	Enrichment	STAT1	2.66
13	Loeys-dietz syndrome 6	Enrichment	SMAD2	2.66
14	Colorectal cancer 3	Enrichment	SMAD7	2.66
15	Immunodeficiency 31b	Enrichment	STAT1	2.66
16	Periventricular nodular heterotopia 7	Enrichment	NEDD4L	2.66
17	Congenital heart defects, multiple types, 8, with or without heterotaxy	Enrichment	SMAD2	2.66
18	Heritable thoracic aortic disease	Enrichment	SMAD4	2.66
19	Female-restricted syndromic x-linked intellectual disability 99	Enrichment	USP9X	2.66
20	Developmental dysplasia of the hip 4	Enrichment	TRIM33	2.66
21	Dislocation of the hip-dysmorphism syndrome	Enrichment	TRIM33	2.66
22	Ehlers-danlos syndrome, cardiac valvular type	Enrichment	COL1A2	2.58
23	Combined osteogenesis imperfecta and ehlers-danlos syndrome 2	Enrichment	COL1A2	2.58
24	Adrenal cortical adenoma	Enrichment	MEN1	2.58
25	Plasminogen activator inhibitor-1 deficiency	Enrichment	SERPINE1	2.58
26	Intellectual developmental disorder with hypertelorism and distinctive facies	Enrichment	CCNK	2.58
27	Adrenal adenoma	Enrichment	MEN1	2.58
28	Congenital plasminogen activator inhibitor type 1 deficiency	Enrichment	SERPINE1	2.58
29	Myhre syndrome	Enrichment	SMAD4	2.35
30	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Enrichment	SMAD4	2.35
31	Loeys-dietz syndrome 3	Enrichment	SMAD3	2.35
32	Immunodeficiency 31c	Enrichment	STAT1	2.35
33	Submucosal cleft palate	Enrichment	UBB	2.35
34	Cleft hard palate	Enrichment	UBB	2.35
35	Burkitt lymphoma	Enrichment	MYC	2.28
36	Bruck syndrome 1	Enrichment	COL1A2	2.28
37	Ebstein anomaly	Enrichment	CDK8	2.28
38	Hyperparathyroidism 1	Enrichment	MEN1	2.28
39	Ehlers-danlos syndrome, arthrochalasia type, 2	Enrichment	COL1A2	2.28
40	Menke-hennekam syndrome 2	Enrichment	EP300	2.28
41	Medullary thyroid carcinoma	Enrichment	MEN1	2.28
42	Insulinoma	Enrichment	MEN1	2.28
43	Intellectual developmental disorder with hypotonia and behavioral abnormalities	Enrichment	CDK8	2.28
44	Ehlers-danlos/osteogenesis imperfecta syndrome	Enrichment	COL1A2	2.28
45	Dentinogenesis imperfecta	Enrichment	COL1A2	2.28
46	Null pituitary adenoma	Enrichment	MEN1	2.28
47	Silent pituitary adenoma	Enrichment	MEN1	2.28
48	Gigantism	Enrichment	MEN1	2.28
49	Juvenile polyposis syndrome	Enrichment	SMAD4	2.18
50	Uvula, bifid	Enrichment	UBB	2.18
51	Cleft soft palate	Enrichment	UBB	2.18
52	Chromosome 5q14.3 deletion syndrome, distal	Enrichment	NEDD4L	2.18
53	Loeys-dietz syndrome 1	Enrichment	SMAD2	2.18
54	Hyperpigmentation of the skin	Enrichment	USP9X	2.18
55	Pituitary adenoma 1, multiple types	Enrichment	MEN1	2.10
56	High-grade b-cell lymphoma double-hit/triple-hit	Enrichment	MYC	2.10
57	Cellular ependymoma	Enrichment	MEN1	2.10
58	Tanycytic ependymoma	Enrichment	MEN1	2.10
59	Papillary ependymoma	Enrichment	MEN1	2.10
60	Parathyroid adenoma	Enrichment	MEN1	2.10
61	Growth hormone secreting pituitary adenoma	Enrichment	MEN1	2.10
62	Aip familial isolated pituitary adenomas	Enrichment	MEN1	2.10
63	Familial isolated hyperparathyroidism	Enrichment	MEN1	2.10
64	High bone mass osteogenesis imperfecta	Enrichment	COL1A2	2.10
65	Clear cell ependymoma	Enrichment	MEN1	2.10
66	Chromosome 22q11.2 deletion syndrome, distal	Enrichment	MAPK1	2.05
67	Malignant epithelioid hemangioendothelioma	Enrichment	WWTR1	2.05
68	Aortic aneurysm	Enrichment	SMAD3	2.05
69	Ehlers-danlos syndrome, arthrochalasia type, 1	Enrichment	COL1A2	1.98
70	Prolactinoma	Enrichment	MEN1	1.98
71	Osteogenesis imperfecta with normal sclerae, dominant form	Enrichment	COL1A2	1.98
72	Primary hyperparathyroidism	Enrichment	MEN1	1.98
73	Benign ependymoma	Enrichment	MEN1	1.98
74	Goldberg-shprintzen syndrome	Enrichment	SKI	1.96
75	Generalized juvenile polyposis/juvenile polyposis coli	Enrichment	SMAD4	1.96
76	Developmental dysplasia of the hip 1	Enrichment	TRIM33	1.88
77	Chronic mucocutaneous candidiasis	Enrichment	STAT1	1.88
78	Rubinstein-taybi syndrome 2	Enrichment	EP300	1.88
79	Gallbladder cancer	Enrichment	SMAD4	1.81
80	Hereditary hemorrhagic telangiectasia	Enrichment	SMAD4	1.81
81	Ehlers-danlos syndrome, classic type, 1	Enrichment	COL1A2	1.80
82	Osteogenesis imperfecta, type i	Enrichment	COL1A2	1.80
83	Rubinstein-taybi syndrome 1	Enrichment	EP300	1.80
84	Chromosome 16p13.3 deletion syndrome, proximal	Enrichment	EP300	1.80
85	Classic ehlers-danlos syndrome	Enrichment	COL1A2	1.80
86	Osteogenesis imperfecta, type ii	Enrichment	COL1A2	1.73
87	Gastrointestinal stromal tumor	Enrichment	MEN1	1.73
88	Familial thoracic aortic aneurysm and dissection	Enrichment	SMAD3	1.70
89	Colorectal cancer	Enrichment	EP300, SMAD4	1.65
90	Charge syndrome	Enrichment	EP300	1.63
91	Specific learning disability	Enrichment	MAPK1	1.62
92	Primary bone dysplasia	Enrichment	COL1A2	1.58
93	Chromosome 1p36 deletion syndrome	Enrichment	SKI	1.55
94	Osteochondrodysplasia	Enrichment	COL1A2	1.54
95	Diabetes mellitus	Enrichment	MEN1	1.54
96	Aortic aneurysm, familial thoracic 1	Enrichment	SMAD3	1.52
97	Periventricular nodular heterotopia	Enrichment	NEDD4L	1.52
98	Septopreoptic holoprosencephaly	Enrichment	TGIF1	1.49
99	Midline interhemispheric variant of holoprosencephaly	Enrichment	TGIF1	1.49
100	Diaphragmatic hernia, congenital	Enrichment	CDK8	1.47
101	Osteogenesis imperfecta, type iv	Enrichment	COL1A2	1.47
102	Microform holoprosencephaly	Enrichment	TGIF1	1.46
103	Lobar holoprosencephaly	Enrichment	TGIF1	1.46
104	Osteoporosis	Enrichment	COL1A2	1.44
105	Alobar holoprosencephaly	Enrichment	TGIF1	1.43
106	Semilobar holoprosencephaly	Enrichment	TGIF1	1.41
107	Polydactyly, postaxial, type a1	Enrichment	EP300	1.41
108	Osteogenesis imperfecta, type iii	Enrichment	COL1A2	1.41
109	Rare genetic intellectual disability	Enrichment	EP300	1.41
110	Hydrocephalus, congenital, 1	Enrichment	CDK8	1.38
111	Hypertension	Enrichment	MEN1	1.38
112	Microcephaly	Enrichment	EP300, MAPK1	1.38
113	Melanoma, cutaneous malignant 1	Enrichment	CDKN2B	1.35
114	Inherited cancer-predisposing syndrome	Enrichment	MEN1, SMAD4	1.32
115	Pancreatic cancer	Enrichment	SMAD4	1.27
116	Brittle bone disorder	Enrichment	COL1A2	1.23
117	Precursor t-cell acute lymphoblastic leukemia	Enrichment	MYC	1.23
118	Differentiated thyroid carcinoma	Enrichment	TRIM33	1.21
119	Connective tissue disease	Enrichment	SMAD3	1.16
120	Non-syndromic x-linked intellectual disability	Enrichment	USP9X	1.12
121	Gastric cancer	Enrichment	SMAD4	1.04
122	Thrombocytopenia	Enrichment	SMAD4	1.00
123	Myeloma, multiple	Enrichment	NCOR2	0.93
124	Hereditary breast ovarian cancer syndrome	Enrichment	MEN1	0.87
125	Breast cancer	Enrichment	CDKN2B	0.74
126	Complex neurodevelopmental disorder	Enrichment	CDK8	0.55

¹ WikiPathways

² PubChem

³ R&D Systems

⁴ Reactome

⁵ GeneGo (Thomson Reuters)

⁶ QIAGEN

⁷ PharmGKB

⁸ Cell Signaling Technology

⁹ Sino Biological

¹⁰ Tocris

¹¹ MalaCards

Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer

Pathway Network for Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer

Pathway network for the Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer SuperPath

Member Pathways for Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer

Pathways in the Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer SuperPath

Gene overlap in member pathways for Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer SuperPath

Associated Genes for Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer

Associated Disorders for Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer

Disorders associated with Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer SuperPath

STRING Interaction Network for Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer

Sources for Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer