SMAD7 - SMAD family member 7 Gene

Also Known as CRCS3; MADH7; MADH8

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4092

About SMAD7

Cytogenetic location: 18q21.1 Genomic coordinates (GRCh38): 18:48,919,853-48,950,965 (from NCBI)

This gene has 8 transcripts (splice variants), 206 orthologues, 7 paralogues and is associated with 1 phenotype. Ubiquitous expression in lung (RPKM 15.3), placenta (RPKM 11.2) and 25 other tissues.

Summary

The protein encoded by this gene is a nuclear protein that binds the E3 ubiquitin Ligase SMURF2. Upon binding, this complex translocates to the cytoplasm, where it interacts with TGF-beta Receptor type-1 (TGFBR1), leading to the degradation of both the encoded protein and TGFBR1. Expression of this gene is induced by TGFBR1. Variations in this gene are a cause of susceptibility to colorectal Cancer type 3 (CRCS3). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]

SMAD7 Products (4)

mRNA	Protein	Name
NM_001190821.2	NP_001177750.1	mothers against decapentaplegic homolog 7 isoform 2
NM_001190822.2	NP_001177751.1	mothers against decapentaplegic homolog 7 isoform 3
NM_001190823.2	NP_001177752.1	mothers against decapentaplegic homolog 7 isoform 4
NM_005904.4	NP_005895.1	mothers against decapentaplegic homolog 7 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Références	Source
enables I-SMAD binding	IPI IPI: Inferred from physical interaction	9256479	GOA
enables activin receptor binding	IPI IPI: Inferred from physical interaction	16720724	GOA
enables beta-catenin binding	IPI IPI: Inferred from physical interaction	18593713	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	14993265	GOA
enables transcription corepressor activity	IDA IDA: Inferred from direct assay	17438144	GOA
enables transcription regulator inhibitor activity	IDA IDA: Inferred from direct assay	9256479	GOA
enables type I transforming growth factor beta receptor binding	IPI IPI: Inferred from physical interaction	11278251	GOA
enables ubiquitin protein ligase binding	IPI IPI: Inferred from physical interaction	11278251	GOA
enables ubiquitin-like ligase-substrate adaptor activity	IDA IDA: Inferred from direct assay	11278251	GOA

Biological Process GO Annotation	Evidence	Références	Source
involved in adherens junction assembly	IMP IMP: Inferred from mutant phenotype	18593713	GOA
involved in cellular response to transforming growth factor beta stimulus	IMP IMP: Inferred from mutant phenotype	18593713	GOA
involved in negative regulation of BMP signaling pathway	IDA IDA: Inferred from direct assay	17438144	GOA
involved in negative regulation of SMAD protein signal transduction	IDA IDA: Inferred from direct assay	17438144	GOA
involved in negative regulation of SMAD protein signal transduction	IMP IMP: Inferred from mutant phenotype	16601693	GOA
involved in negative regulation of activin receptor signaling pathway	IDA IDA: Inferred from direct assay	16720724	GOA
involved in negative regulation of peptidyl-serine phosphorylation	IDA IDA: Inferred from direct assay	18593713	GOA
involved in negative regulation of peptidyl-threonine phosphorylation	IDA IDA: Inferred from direct assay	18593713	GOA
involved in negative regulation of protein ubiquitination	IDA IDA: Inferred from direct assay	18593713	GOA
involved in negative regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	17438144	GOA
involved in negative regulation of transcription by competitive promoter binding	IDA IDA: Inferred from direct assay	17438144	GOA
involved in negative regulation of transforming growth factor beta receptor signaling pathway	IDA IDA: Inferred from direct assay	9256479	GOA
involved in negative regulation of transforming growth factor beta receptor signaling pathway	IMP IMP: Inferred from mutant phenotype	16601693	GOA
involved in negative regulation of ubiquitin-protein transferase activity	IDA IDA: Inferred from direct assay	18593713	GOA
involved in positive regulation of cell-cell adhesion	IDA IDA: Inferred from direct assay	18593713	GOA
involved in protein stabilization	IDA IDA: Inferred from direct assay	18593713	GOA
involved in protein-containing complex localization	IDA IDA: Inferred from direct assay	18593713	GOA
involved in regulation of epithelial to mesenchymal transition	IMP IMP: Inferred from mutant phenotype	24887517	GOA
involved in response to laminar fluid shear stress	IEP IEP: Inferred from expression pattern	9256479	GOA

Cellular Component GO Annotation	Evidence	Références	Source
colocalizes with adherens junction	IDA IDA: Inferred from direct assay	18593713	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	11278251	GOA
located in nucleus	IDA IDA: Inferred from direct assay	11278251	GOA
is active in plasma membrane	IDA IDA: Inferred from direct assay	12151385	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	23610558	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SMAD7 Protein Structure

MH1

MH2

0
100
200
300
400
426 a.a.

Protein Preferred Names	Protein Names
mothers against decapentaplegic homolog 7	MAD (mothers against decapentaplegic, Drosophila) homolog 7

SMAD7 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	SMAD7	O15105	FKBP1A	Homo sapiens	P62942	Pull Down	16720724
Intra	SMAD7	O15105	YAP1	Homo sapiens	P46937	Anti Tag CoIP	22921829
Intra	SMAD7	O15105	YAP1	Homo sapiens	P46937	NMR	22921829
Intra	SMAD7	O15105	YAP1	Homo sapiens	P46937	ITC	22921829
Intra	SMAD7	O15105	ACVR1B	Homo sapiens	P36896	Pull Down	16720724
Intra	SMAD7	O15105	SMURF1	Homo sapiens	Q9HCE7-1	NMR	22921829
Intra	SMAD7	O15105	SMURF1	Homo sapiens	Q9HCE7-1	Ion Mobility Mass Spec	22921829
Intra	SMAD7	O15105	SMURF1	Homo sapiens	Q9HCE7-1	ITC	22921829
Intra	SMAD7	O15105	SMURF1	Homo sapiens	Q9HCE7-1	NMR	20937913
Intra	SMAD7	O15105	SMURF2	Homo sapiens	Q9HAU4	Ion Mobility Mass Spec	22921829
Intra	SMAD7	O15105	SMURF2	Homo sapiens	Q9HAU4	ITC	22921829
Intra	SMAD7	O15105	SMURF2	Homo sapiens	Q9HAU4	Y2H	15231748
Intra	SMAD7	O15105	SMURF2	Homo sapiens	Q9HAU4	NMR	22921829
Intra	SMAD7	O15105	COPS5	Homo sapiens	Q92905	Anti Tag CoIP	14993265
Intra	SMAD7	O15105	COPS5	Homo sapiens	Q92905	Pull Down	14993265
Intra	SMAD7	O15105	COPS5	Homo sapiens	Q92905	Anti Bait CoIP	14993265
Cross	SMAD7	O15105	Rnf111	Mus musculus	Q99ML9	Anti Tag CoIP	16601693
Intra	SMAD7	O15105	AXIN1	Homo sapiens	O15169	Anti Tag CoIP	16601693
Intra	SMAD7	O15105	AXIN1	Homo sapiens	O15169	Imaging	16601693
Intra	SMAD7	O15105	WWP2	Homo sapiens	O00308	Pull Down	21258410
Intra	SMAD7	O15105	WWP2	Homo sapiens	O00308	Anti Bait CoIP	21258410
Intra	SMAD7	O15105	WWP2	Homo sapiens	O00308	Anti Tag CoIP	21258410

Cross: Cross-species interaction Intra: Intraspecies interaction

SMAD7 Anticorps

Cat. No.	Nom du produit	Application	Reactivity
HY-P810723	SMAD7 Antibody	WB, IHC-P, IHC-F, ICC/IF, FC, IF-Tissue	Human, Mouse, Rat
HY-P810736	ELOVL6 Antibody	WB, IHC-P	Human, Mouse

Related Diseases

Diseases	Alias
Colorectal Cancer 3	Colorectal Cancer, Susceptibility To, 3 CRCS3 Colorectal Cancer On Chromosome 18 Colorectal Cancer, Susceptibility To, On Chromosome 18 Susceptibility To Colorectal Cancer On Chromosome 18 Cancer, Colorectal, Susceptibility To, Type 3
Breast Cancer	Breast Carcinoma Male Breast Cancer Breast Cancer, Familial Malignant Neoplasm Of Breast Breast Cancer, Susceptibility To Breast Cancer, Early-Onset Malignant Tumor Of Breast Carcinoma Of Male Breast Breast Cancer, Invasive Ductal Breast Cancer, Protection Against Breast Cancer, Somatic Breast Cancer, Male Breast Cancer, Lobular, Somatic Breast Tumor Mammary Cancer Mammary Tumor Malignant Neoplasm Of Male Breast Mammary Carcinoma Male Breast Carcinoma Familial Cancer Of Breast Invasive Ductal Breast Carcinoma Breast Cancer Susceptibility Breast Cancer, Male, Susceptibility To Breast Cancer, Early-Onset, Susceptibility To Malignant Tumor Of The Breast Mammary Neoplasm Primary Breast Cancer Neoplasm Of Male Breast Carcinoma Of Breast Breast Cancer In Men Familial Breast Cancer Cancer Of Breast BC Breast Cancer Familial Breast Cancer Familial Male Breast Cancer, Familial Male Breast Male Carcinoma Breast Neoplasms Breast Neoplasms, Male Mammary Tumors Mammary Carcinomas Cancer, Breast Cancer, Breast, Susceptibility Invasive Breast Ductal Carcinoma Breast Neoplasm Susceptibility To Breast Cancer Mammary Neoplasms Animal Mammary Neoplasms Primary Malignant Neoplasm Of Breast Infiltrating Ductal Carcinoma Of Breast Infiltrating Duct Carcinoma Of Unspecified Site Infiltrating Ductular Carcinoma Of Unspecified Site Invasive Breast Carcinoma Of No Special Type Microinvasive Carcinoma Of Breast Carcinoma With Apocrine Differentiation
Hypertrophic Scars	Scars Hypertrophic Hypertrophic Scarring
Fibrodysplasia Ossificans Progressiva	Myositis Ossificans Progressiva Progressive Myositis Ossificans FOP Progressive Ossifying Myositis Myositis Ossificans Stone Man Syndrome Man Of Stone Myositis Ossificans Progressive Diffuse Progressive Ossifying Polymyositis Fibrodysplasia Ossificans Congenita Myositis Ossificans Progressiva, Site Unspecified Münchmeyer Disease Fop - [Fibrodysplasia Ossificans Progressiva] Progressive Myositis Ossificans Calcification
Colitis
Ulcerative Colitis	Colitis Gravis Left Sided Ulcerative Colitis Left-Sided Ulcerative Colitis Idiopathic Proctocolitis Inflammatory Bowel Disease, Ulcerative Colitis Type Uc Colitis Ulcerative Colitis, Ulcerative Chronic Left-Sided Ulcerative Colitis Uc - [Ulcerative Colitis] Chronic Ulcerative Enteritis Mucosal Proctocolitis Ulcerative Mucosal Proctocolitis Left Hemicolitis
Pulmonary Fibrosis	Fibrosis Of Lung
Renal Fibrosis
Colorectal Cancer	Colon Cancer Colorectal Carcinoma Colon Carcinoma Colorectal Cancer, Susceptibility To Carcinoma Of Colon CRC Colorectal Cancer With Chromosomal Instability, Somatic Colon Cancer, Somatic Colon Cancer, Susceptibility To Colonic Neoplasms Colorectal Neoplasms Colorectal Cancer, Somatic Colon Cancer, Advanced, Somatic Colonic Carcinoma Colorectal Carcinomas Colon Cancers Colorectal Cancers Cancer, Colorectal, Somatic Cancer, Colon Cancer, Colorectal, Susceptibility To Colorectal Neoplasm Colonic Neoplasm Malignant Tumor Of Colon
Adenoma	Acinar Cell Adenoma Adenomas Acinic Cell Adenoma
Pancreatic Cancer	Pancreatic Carcinoma Carcinoma Of Pancreas Familial Pancreatic Carcinoma Pancreatic Neoplasm Pancreatic Carcinoma, Familial Malignant Neoplasm Of Pancreas Pancreatic Acinar Carcinoma Pancreatic Tumor Familial Pancreatic Cancer Neoplasm Of The Pancreas Cancer Of The Pancreas Pancreatic Carcinoma, Somatic Pancreatic Cancer, Somatic Ca Body Of Pancreas Ca Head Of Pancreas Ca Tail Of Pancreas Malignant Neoplasm Of Body Of Pancreas Malignant Neoplasm Of Head Of Pancreas Malignant Neoplasm Of Tail Of Pancreas Pancreas Neoplasm Exocrine Cancer Exocrine Pancreas Carcinoma Hereditary Pancreatic Cancer Hereditary Pancreatic Carcinoma PNCA Pancreatic Cancer, Susceptibility To Carcinoma Of Head Of Pancreas Pancreatic Neoplasms Pancreatic Tumors Cancer, Pancreatic Cancer Of Pancreas Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site
Ureteral Disease	Ureteral Diseases Ureteral Disorders Disorder Of Ureter
Ovarian Cancer	Ovarian Carcinoma Ovarian Neoplasm Malignant Tumour Of Ovary Cancer Of The Ovary Epithelial Ovarian Cancer Neoplasm Of Ovary Ovarian Neoplasms Ovarian Cancers Malignant Neoplasm Of Ovary Primary Malignant Neoplasm Of Ovary Ovarian Cancer, Somatic Malignant Ovarian Tumor Ovary Neoplasm Primary Ovarian Cancer Tumor Of The Ovary Malignant Neoplasm Of The Ovary Malignant Tumor Of The Ovary Ovarian Malignant Tumor OC Ovarian Carcinomas Cancer, Ovarian Cancer Of Ovary Ovary Cancer Ca Ovary
Urinary Tract Obstruction	Obstructive Uropathy Urinary Obstruction Urologic Diseases
Obstructive Nephropathy	Con Congenital Obstructive Nephropathy Nephropathy Obstructive
Gastric Cancer	Stomach Cancer Gastric Carcinoma Stomach Carcinoma Gastric Cancer, Somatic Gastric Neoplasm Carcinoma Of Stomach Stomach Neoplasms Malignant Neoplasm Of Stomach Gastric Cancer Risk After H. Pylori Infection Cancer Of The Stomach Adult Stomach Cancer Adult Stomach Carcinoma GASC Gastric Cancer Intestinal Gastric Cancers Gastric Carcinomas Cancer, Gastric Stomach Neoplasm Malignant Neoplasm Of Body Of Stomach Malignant Tumor Of Lesser Curve Of Stomach Gastrocarcinoma Of Unspecified Site Leather Bottle Stomach Carcinoma Of Fundus Of Stomach Cancer Of Fundus Of Stomach Primary Malignant Neoplasm Of Body Of Stomach Cancer Of Body Of Stomach Primary Malignant Neoplasm Of Pyloric Antrum Pyloric Antrum Cancer Malignant Tumour Of Stomach
Inflammatory Bowel Disease	Inflammatory Bowel Diseases Bowel Disease, Inflammatory
Cowden Syndrome 6	CWS6 Cowden Syndrome, Type 6
Hepatocellular Carcinoma	Liver Cancer Primary Liver Cancer HCC Hepatoma Malignant Neoplasm Of Liver Liver Neoplasms Cancer, Hepatocellular Liver Cell Carcinoma Lcc Hepatoblastoma, Somatic Hepatic Cancer Primary Malignant Neoplasm Of Liver Rare Tumor Of Liver And Intrahepatic Biliary Tract Hepatocellular Carcinoma, Somatic Hepatocellular Carcinoma, Childhood Type, Somatic Hepatocellular Cancer, Somatic Ca Liver - Primary Hepatic Neoplasm Malignant Hepato-Biliary Neoplasm Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary Malignant Neoplasm Of Liver, Primary Malignant Tumor Of Liver Neoplasm Of Liver Non-Resectable Primary Hepatic Malignant Neoplasm Resectable Malignant Neoplasm Of Liver Resectable Malignant Neoplasm Of The Liver Primary Liver Carcinoma Primary Malignant Liver Neoplasm Primary Cancer Of Liver Primary Tumor Of The Liver Rare Tumor Of Liver And Ibt Hepatocellular Cancer Neoplasm Of The Liver Carcinoma, Hepatocellular Hepatomas Liver Neoplasm Liver Carcinoma Liver And Intrahepatic Biliary Tract Carcinoma Malignant Hepatobiliary Neoplasm Adult Primary Hepatocellular Carcinoma Hepatoblastoma Carcinoma Of Liver Malignant Liver Tumour Malignant Hepatic Tumour
Osteoporosis	Postmenopausal Osteoporosis Osteoporosis, Postmenopausal Bone Mineral Density Quantitative Trait Locus Bmnd Osteoporosis, Involutional Osteoporosis, Susceptibility To Osteoporosis, Postmenopausal, Susceptibility Bone Mineral Density Variation Qtl, Osteoporosis OSTEOP Involutional Osteoporosis Senile Osteoporosis Osteoporosis Postmenopausal Bone Mineral Density, Quantitative Trait Locus Osteoporosis, Senile Idiopathic Osteoporosis Bone Rarefaction Nos Type 1 Osteoporosis
Interstitial Lung Disease 2	Idiopathic Pulmonary Fibrosis Ipf Fibrocystic Pulmonary Dysplasia Pulmonary Fibrosis, Idiopathic Pulmonary Fibrosis, Idiopathic, Susceptibility To Cryptogenic Fibrosing Alveolitis ILD2 Idiopathic Pulmonary Fibrosis, Familial Fibrosing Alveolitis, Cryptogenic Uip Fibrosing Alveolitis Interstitial Pneumonitis, Usual Familial Idiopathic Pulmonary Fibrosis Idiopathic Fibrosing Alveolitis, Chronic Form Usual Interstitial Pneumonia Fibrosing Alveolitis Cryptogenic Hamman-Rich Disease Idiopathic Pulmonary Fibrosis Familial Interstitial Pneumonitis Usual Fibrosis Idiopathic Pulmonary Fibrosis, Pulmonary, Idiopathic Hamman-Rich Syndrome Chronic Idiopathic Pulmonary Fibrosis Acute Interstitial Pneumonia Interstitial Pulmonary Fibrosis Ipf - [Idiopathic Pulmonary Fibrosis] Idiopathic Lung Fibrosis Fibrosing Lung Disease Pulmonary Fibrosis Nos Fibrosing Pneumonitis
Cleft Palate, Isolated	Cleft Palate Isolated Cleft Palate CPI Cp Palatoschisis Cleft Palate Isolated Uranostaphyloschisis Congenital Fissure Of Palate Cleft Of Secondary Palate
Aortic Aneurysm, Familial Thoracic 1	Thoracic Aortic Aneurysm Annuloaortic Ectasia Familial Thoracic Aortic Aneurysm And Aortic Dissection Familial Aortic Dissection Familial Taad Familial Thoracic Aortic Aneurysm Congenital Aneurysm Of Ascending Aorta Familial Aortic Aneurysm Familial Thoracic Aortic Aneurysm And Dissection Aortic Aneurysm, Thoracic AAT1 Faa1 Aortic Dissection, Familial Aortic Aneurysm, Familial Thoracic Aneurysm, Thoracic Aortic Faa Ftaad Taa Taad Cystic Medial Necrosis Of Aorta Familial Non-Syndromic Thoracic Aortic Aneurysm And Aortic Dissection Aortic Aneurysm Thoracic Familial Aortic Aneurysms Aneurysm, Aortic, Thoracic, Familial, Type 1 Aneurysm Of Thoracic Aorta Intrathoracic Aneurysm Thoracic Aorta Aneurysm Thoracic Aortic Aneurysm Without Rupture Thoracic Aneurysm Thorax Arterial Aneurysm Thoracic Artery Aneurysm Thoracic Arterial Aneurysm Thorax Aneurysm Thorax Aortic Aneurysm Dissection Of Thoracic Aorta

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (2)

Cat. No.	Nom du produit	Effect	Pureté	Phase
HY-145721A	Mongersen sodium		99.61%	Phase 3
HY-145721	Mongersen	Inhibitor	98.57%	Phase 3

Pre-clinical Phase

Bioactive Molecules (10)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-N0439	Asiaticoside		99.67%	Unkown
HY-107802	Breviscapine		99.13%	Unkown
HY-170791	CIB-L43		99.71%	Unkown
HY-120268A	SLM6031434 hydrochloride	Inhibitor	99.1%	Unkown
HY-RS13398	SMAD7 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-120268	SLM6031434	Inhibitor	/	Unkown
HY-175662	TGF-β/Smad-IN-2	Inhibitor	/	Unkown
HY-N13208	Stevia Powder		/	Unkown
HY-RS18408	Smad7 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24889	Smad7 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	SMAD7	VGNC	VGNC:34980
Canis familiaris	SMAD7	VGNC	VGNC:46524
Felis catus	SMAD7	VGNC	VGNC:107725
Rattus norvegicus	SMAD7	RGD	RGD:69314
Mus musculus	SMAD7	MGD	MGI:1100518
Macaca mulatta	SMAD7	VGNC	VGNC:104249
Others	SMAD7	NCBI