1. Gene
  2. SMAD7 - SMAD family member 7 Gene

SMAD7 - SMAD family member 7 Gene

中文名称:SMAD 家族成员 7

种属: Homo sapiens

同用名: CRCS3; MADH7; MADH8

基因 ID: 4092 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质是一种核蛋白,可结合 E3 泛素连接酶 SMURF2。结合后,该复合物易位至细胞质,在那里它与 TGF-β 受体 1 型 (TGFBR1) 相互作用,导致编码蛋白和 TGFBR1 的降解。该基因的表达由 TGFBR1 诱导。该基因的变异是 3 型结直肠癌 (CRCS3) 易感性的原因。已发现该基因编码不同亚型的几种转录变体。[RefSeq 提供,2010 年 6 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables I-SMAD binding IPI
IPI: 通过物理相互作用推断
9256479 GOA
enables activin receptor binding IPI
IPI: 通过物理相互作用推断
16720724 GOA
enables beta-catenin binding IPI
IPI: 通过物理相互作用推断
18593713 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
14993265 GOA
enables transcription corepressor activity IDA
IDA: 通过直接分析推断
17438144 GOA
enables transcription regulator inhibitor activity IDA
IDA: 通过直接分析推断
9256479 GOA
enables type I transforming growth factor beta receptor binding IPI
IPI: 通过物理相互作用推断
11278251 GOA
enables ubiquitin protein ligase binding IPI
IPI: 通过物理相互作用推断
11278251 GOA
enables ubiquitin-like ligase-substrate adaptor activity IDA
IDA: 通过直接分析推断
11278251 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in adherens junction assembly IMP
IMP: 通过突变表型推断
18593713 GOA
involved in cellular response to transforming growth factor beta stimulus IMP
IMP: 通过突变表型推断
18593713 GOA
involved in negative regulation of BMP signaling pathway IDA
IDA: 通过直接分析推断
17438144 GOA
involved in negative regulation of SMAD protein signal transduction IDA
IDA: 通过直接分析推断
17438144 GOA
involved in negative regulation of SMAD protein signal transduction IMP
IMP: 通过突变表型推断
16601693 GOA
involved in negative regulation of activin receptor signaling pathway IDA
IDA: 通过直接分析推断
16720724 GOA
involved in negative regulation of peptidyl-serine phosphorylation IDA
IDA: 通过直接分析推断
18593713 GOA
involved in negative regulation of peptidyl-threonine phosphorylation IDA
IDA: 通过直接分析推断
18593713 GOA
involved in negative regulation of protein ubiquitination IDA
IDA: 通过直接分析推断
18593713 GOA
involved in negative regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
17438144 GOA
involved in negative regulation of transcription by competitive promoter binding IDA
IDA: 通过直接分析推断
17438144 GOA
involved in negative regulation of transforming growth factor beta receptor signaling pathway IDA
IDA: 通过直接分析推断
9256479 GOA
involved in negative regulation of transforming growth factor beta receptor signaling pathway IMP
IMP: 通过突变表型推断
16601693 GOA
involved in negative regulation of ubiquitin-protein transferase activity IDA
IDA: 通过直接分析推断
18593713 GOA
involved in positive regulation of cell-cell adhesion IDA
IDA: 通过直接分析推断
18593713 GOA
involved in protein stabilization IDA
IDA: 通过直接分析推断
18593713 GOA
involved in protein-containing complex localization IDA
IDA: 通过直接分析推断
18593713 GOA
involved in regulation of epithelial to mesenchymal transition IMP
IMP: 通过突变表型推断
24887517 GOA
involved in response to laminar fluid shear stress IEP
IEP: 通过表达模式推断
9256479 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
colocalizes with adherens junction IDA
IDA: 通过直接分析推断
18593713 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
11278251 GOA
located in nucleus IDA
IDA: 通过直接分析推断
11278251 GOA
is active in plasma membrane IDA
IDA: 通过直接分析推断
12151385 GOA
part of protein-containing complex IDA
IDA: 通过直接分析推断
23610558 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

SMAD7 蛋白结构

MH1

MH1: MH1 domain (93 - 202)

MH2

MH2: MH2 domain (257 - 425)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 426 a.a.
蛋白主名 其他名称

mothers against decapentaplegic homolog 7

MAD (mothers against decapentaplegic, Drosophila) homolog 7

SMAD7 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
SMAD7 O15105 FKBP1A Homo sapiens P62942
Pull Down
16720724
种属内
SMAD7 O15105 YAP1 Homo sapiens P46937
Anti Tag CoIP
22921829
种属内
SMAD7 O15105 YAP1 Homo sapiens P46937
NMR
22921829
种属内
SMAD7 O15105 YAP1 Homo sapiens P46937
ITC
22921829
种属内
SMAD7 O15105 ACVR1B Homo sapiens P36896
Pull Down
16720724
种属内
SMAD7 O15105 SMURF1 Homo sapiens Q9HCE7-1
NMR
22921829
种属内
SMAD7 O15105 SMURF1 Homo sapiens Q9HCE7-1
Ion Mobility Mass Spec
22921829
种属内
SMAD7 O15105 SMURF1 Homo sapiens Q9HCE7-1
ITC
22921829
种属内
SMAD7 O15105 SMURF1 Homo sapiens Q9HCE7-1
NMR
20937913
种属内
SMAD7 O15105 SMURF2 Homo sapiens Q9HAU4
Ion Mobility Mass Spec
22921829
种属内
SMAD7 O15105 SMURF2 Homo sapiens Q9HAU4
ITC
22921829
种属内
SMAD7 O15105 SMURF2 Homo sapiens Q9HAU4
Y2H
15231748
种属内
SMAD7 O15105 SMURF2 Homo sapiens Q9HAU4
NMR
22921829
种属内
SMAD7 O15105 COPS5 Homo sapiens Q92905
Anti Tag CoIP
14993265
种属内
SMAD7 O15105 COPS5 Homo sapiens Q92905
Pull Down
14993265
种属内
SMAD7 O15105 COPS5 Homo sapiens Q92905
Anti Bait CoIP
14993265
种属间
SMAD7 O15105 Rnf111 Mus musculus Q99ML9
Anti Tag CoIP
16601693
种属内
SMAD7 O15105 AXIN1 Homo sapiens O15169
Anti Tag CoIP
16601693
种属内
SMAD7 O15105 AXIN1 Homo sapiens O15169
Imaging
16601693
种属内
SMAD7 O15105 WWP2 Homo sapiens O00308
Pull Down
21258410
种属内
SMAD7 O15105 WWP2 Homo sapiens O00308
Anti Bait CoIP
21258410
种属内
SMAD7 O15105 WWP2 Homo sapiens O00308
Anti Tag CoIP
21258410
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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