1. Gene
  2. SMAD2 - SMAD family member 2 Gene

SMAD2 - SMAD family member 2 Gene

Homo sapiens

Also known as JV18; LDS6; CHTD8; MADH2; MADR2; JV18-1; hMAD-2; hSMAD2

Gene ID: 4087 | Gene type: protein coding

About SMAD2

Cytogenetic location: 18q21.1 Genomic coordinates (GRCh38): 18:47,808,957-47,930,872 (from NCBI)

This gene has 12 transcripts (splice variants), 141 orthologues, 7 paralogues and is associated with 93 phenotypes. Ubiquitous expression in thyroid (RPKM 6.6), testis (RPKM 4.0) and 25 other tissues.

Summary

The protein encoded by this gene belongs to the SMAD, a family of proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein mediates the signal of the transforming growth factor (TGF)-beta, and thus regulates multiple cellular processes, such as cell proliferation, Apoptosis, and differentiation. This protein is recruited to the TGF-beta receptors through its interaction with the SMAD anchor for receptor activation (SARA) protein. In response to TGF-beta signal, this protein is phosphorylated by the TGF-beta receptors. The phosphorylation induces the dissociation of this protein with SARA and the association with the family member SMAD4. The association with SMAD4 is important for the translocation of this protein into the nucleus, where it binds to target promoters and forms a transcription repressor complex with Other cofactors. This protein can also be phosphorylated by activin type 1 receptor kinase, and mediates the signal from the activin. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2012]

SMAD2 Products(3)

mRNA Protein Name
NM_001003652.4 NP_001003652.1 mothers against decapentaplegic homolog 2 isoform 1
NM_001135937.3 NP_001129409.1 mothers against decapentaplegic homolog 2 isoform 2
NM_005901.6 NP_005892.1 mothers against decapentaplegic homolog 2 isoform 1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
contributes to DNA binding IDA
IDA: Inferred from direct assay
9389648 GOA
enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
IDA: Inferred from direct assay
9389648 GOA
contributes to DNA-binding transcription factor activity IDA
IDA: Inferred from direct assay
17438144 GOA
enables DNA-binding transcription factor activity IDA
IDA: Inferred from direct assay
9389648 GOA
enables DNA-binding transcription factor binding IPI
IPI: Inferred from physical interaction
9702198 GOA
enables I-SMAD binding IPI
IPI: Inferred from physical interaction
9256479 GOA
enables R-SMAD binding IPI
IPI: Inferred from physical interaction
9311995 GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
IDA: Inferred from direct assay
9389648 GOA
enables SMAD binding IPI
IPI: Inferred from physical interaction
11160896 GOA
enables co-SMAD binding IPI
IPI: Inferred from physical interaction
9111321 GOA
enables disordered domain specific binding IPI
IPI: Inferred from physical interaction
15231848 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
11779503 GOA
enables phosphatase binding IPI
IPI: Inferred from physical interaction
16751101 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
9389648 GOA
enables transforming growth factor beta receptor binding IPI
IPI: Inferred from physical interaction
9311995 GOA
enables type I transforming growth factor beta receptor binding IPI
IPI: Inferred from physical interaction
8980228 GOA
enables ubiquitin protein ligase binding IPI
IPI: Inferred from physical interaction
19122240 GOA
Biological Process GO Annotation Evidence Reference Source
acts upstream of or within SMAD protein signal transduction IDA
IDA: Inferred from direct assay
16806156 GOA
involved in SMAD protein signal transduction IDA
IDA: Inferred from direct assay
9111321 GOA
involved in SMAD protein signal transduction IMP
IMP: Inferred from mutant phenotype
17239842 GOA
involved in activin receptor signaling pathway IMP
IMP: Inferred from mutant phenotype
15150278 GOA
involved in determination of left/right asymmetry in lateral mesoderm IMP
IMP: Inferred from mutant phenotype
17239842 GOA
involved in negative regulation of DNA-templated transcription IMP
IMP: Inferred from mutant phenotype
14555988 GOA
involved in nodal signaling pathway IMP
IMP: Inferred from mutant phenotype
15150278 GOA
involved in positive regulation of BMP signaling pathway IMP
IMP: Inferred from mutant phenotype
19366699 GOA
involved in positive regulation of DNA-templated transcription IDA
IDA: Inferred from direct assay
9311995 GOA
involved in positive regulation of DNA-templated transcription IMP
IMP: Inferred from mutant phenotype
14555988 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
9389648 GOA
involved in regulation of transforming growth factor beta receptor signaling pathway IMP
IMP: Inferred from mutant phenotype
14555988 GOA
involved in response to cholesterol IDA
IDA: Inferred from direct assay
17878231 GOA
involved in transforming growth factor beta receptor signaling pathway IDA
IDA: Inferred from direct assay
8752209 GOA
involved in transforming growth factor beta receptor signaling pathway IMP
IMP: Inferred from mutant phenotype
8980228 GOA
involved in zygotic specification of dorsal/ventral axis IMP
IMP: Inferred from mutant phenotype
9436979 GOA
Cellular Component GO Annotation Evidence Reference Source
part of SMAD protein complex IDA
IDA: Inferred from direct assay
18832382 GOA
part of activin responsive factor complex IDA
IDA: Inferred from direct assay
9389648 GOA
located in chromatin IDA
IDA: Inferred from direct assay
21828274 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
9311995 GOA
part of heteromeric SMAD protein complex IDA
IDA: Inferred from direct assay
21828274 GOA
part of heteromeric SMAD protein complex IPI
IPI: Inferred from physical interaction
15350224 GOA
part of homomeric SMAD protein complex IPI
IPI: Inferred from physical interaction
11779503 GOA
located in nucleus IDA
IDA: Inferred from direct assay
8980228 GOA
part of protein-containing complex IMP
IMP: Inferred from mutant phenotype
15231848 GOA
part of transcription regulator complex IDA
IDA: Inferred from direct assay
17438144 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
Protein Preferred Names Protein Names

mothers against decapentaplegic homolog 2

MAD homolog 2

SMAD2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
SMAD2 Q15796 SMAD4 Homo sapiens Q13485
CoIP
12167862
Intra
SMAD2 Q15796 SMAD4 Homo sapiens Q13485
GMS
11779503
Intra
SMAD2 Q15796 SMAD4 Homo sapiens Q13485
Y2H
15231748
Intra
SMAD2 Q15796 SMAD4 Homo sapiens Q13485
PLA
22442258
Intra
SMAD2 Q15796 SMAD4 Homo sapiens Q13485
Anti Bait CoIP
19135894
Intra
SMAD2 Q15796 SMAD4 Homo sapiens Q13485
Anti Tag CoIP
18729074
Intra
SMAD2 Q15796 SMAD4 Homo sapiens Q13485
Y2H Array
20211142
Intra
SMAD2 Q15796 SMAD4 Homo sapiens Q13485
TAP
18729074
Intra
SMAD2 Q15796 SMAD4 Homo sapiens Q13485
Anti Bait CoIP
21297662
Intra
SMAD2 Q15796 SMAD4 Homo sapiens Q13485
Anti Tag CoIP
9389648
Intra
SMAD2 Q15796 SMAD4 Homo sapiens Q13485
Anti Tag CoIP
33961781
Intra
SMAD2 Q15796 MTMR4 Homo sapiens Q9NYA4
Anti Tag CoIP
20061380
Intra
SMAD2 Q15796 MTMR4 Homo sapiens Q9NYA4
Anti Bait CoIP
20061380
Intra
SMAD2 Q15796 NEFM Homo sapiens P07197
Display Tech
20195357
Intra
SMAD2 Q15796 FOXH1 Homo sapiens O75593
Affinity Techniques
9702198
Intra
SMAD2 Q15796 TRIM33 Homo sapiens Q9UPN9
Anti Bait CoIP
19135894
Intra
SMAD2 Q15796 TP63 Homo sapiens Q9H3D4
Anti Bait CoIP
19345189
Intra
SMAD2 Q15796 ZFR Homo sapiens Q96KR1
Display Tech
20195357
Intra
SMAD2 Q15796 ANK3 Homo sapiens Q12955
Y2H
15231748
Intra
SMAD2 Q15796 DOCK9 Homo sapiens Q9BZ29
Anti Tag CoIP
18729074
Intra
SMAD2 Q15796 DOCK9 Homo sapiens Q9BZ29
TAP
18729074
Intra
SMAD2 Q15796 SKIL Homo sapiens P12757
Anti Tag CoIP
33961781
Intra
SMAD2 Q15796 ZFYVE9 Homo sapiens O95405
Y2H
15231748
Intra
SMAD2 Q15796 ZFYVE9 Homo sapiens O95405
Anti Tag CoIP
33961781
Intra
SMAD2 Q15796 ZFYVE9 Homo sapiens O95405
Anti Bait CoIP
18511908
Intra
SMAD2 Q15796 SMAD3 Homo sapiens P84022
Y2H
21988832
Intra
SMAD2 Q15796 SMAD3 Homo sapiens P84022
TAP
18729074
Intra
SMAD2 Q15796 SKI Homo sapiens P12755
Anti Tag CoIP
33961781
Intra
SMAD2 Q15796 SKI Homo sapiens P12755
TAP
18729074
Intra
SMAD2 Q15796 TP53 Homo sapiens P04637
Anti Bait CoIP
19345189
Intra
SMAD2 Q15796 OLIG1 Homo sapiens Q8TAK6
Anti Tag CoIP
18923419
Intra
SMAD2 Q15796 SMURF2 Homo sapiens Q9HAU4
ITC
22045334
Intra
SMAD2 Q15796 SMURF2 Homo sapiens Q9HAU4
Peptide Array
22045334
Intra
SMAD2 Q15796 SMURF2 Homo sapiens Q9HAU4
TAP
18729074
Intra
SMAD2 Q15796 RHOA Homo sapiens P61586
TAP
20195357
Intra
SMAD2 Q15796 SNW1 Homo sapiens Q13573
TAP
18729074
Intra
SMAD2 Q15796 CHGB Homo sapiens P05060
Display Tech
20195357
Intra
SMAD2 Q15796 WWP2 Homo sapiens O00308
Anti Tag CoIP
21258410
Intra
SMAD2 Q15796 WWP2 Homo sapiens O00308
TAP
18729074
Intra
SMAD2 Q15796 CHUK Homo sapiens O15111
Pull Down
18268325
Intra
SMAD2 Q15796 CHUK Homo sapiens O15111
Anti Tag CoIP
18268325
Intra
SMAD2 Q15796 JUN Homo sapiens P05412
Display Tech
20195357
Intra
SMAD2 Q15796 PPM1A Homo sapiens P35813
Pull Down
16751101
Intra
SMAD2 Q15796 PPM1A Homo sapiens P35813
Anti Tag CoIP
16751101
Intra
SMAD2 Q15796 RANBP3 Homo sapiens Q9H6Z4
Pull Down
21960005
Cross
SMAD2 Q15796 foxh1 Crosspus laevis P70056
Anti Tag CoIP
9389648
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant SMAD2 Proteins

Cat. No. Product Name Accession Purity
HY-P71536 SMAD2 Protein, Human (His-SUMO) Q15796-1 (S2-S467) ≥95%

Related Diseases

Diseases Alias
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy

CHTD8

Heart Defects, Congenital, Multiple Types, 8, With/Without Heterotaxy

Loeys-Dietz Syndrome 6

LDS6

Loeys-Dietz Syndrome, Type 6

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

Loeys-Dietz Syndrome

Loeys-Dietz Aortic Aneurysm Syndrome

Lds

Aortic Aneurysm Syndrome Due To Tgf-Beta Receptors Anomalies

Furlong Syndrome

Left-Sided Gallbladder
Osteopoikilosis

Osteopathia Condensans Disseminata

Spotted Bones

Dermatofibrosis Lenticularis Disseminata

Buschke-Ollendorff Syndrome

BOS

Dermatoosteopoikilosis

Dermatofibrosis Lenticularis Disseminata With Osteopoikilosis

Osteopathia Condensans Disseminata

Dermatofibrosis Lenticularis Disseminata

Disseminated Dermatofibrosis With Osteopoikilosis

Dermatofibrosis, Disseminated, With Osteopoikilosis

Osteopoikilosis With Or Without Melorheostosis

Dermatofibrosis, Disseminated With Osteopoikilosis

Dermatofibrosis Disseminata Lenticularis

Isolated Osteopoikilosis

Osteopoikilosis, Isolated

Adenocarcinoma

Adenocarcinomas

Adenoacanthoma Of Unspecified Site

Adenocarcinoid Of Unspecified Site

Adenocarcinoid Tumour Of Unspecified Site

Adenocarcinoma And Carcinoid Combined Of Unspecified Site

Adenocarcinoma Nos

Melorheostosis

Candle Wax Disease

Flowing Hyperostosis

Hyperostosis, Monomelic

Leri Syndrome

Leri'S Disease

Melorheostoses

Melorheostosis Of Leri

Melorheostosis, Isolated

Periostitis

Monomelic

Rheostosis

Complete Atrioventricular Canal

Cavc

Common Atrioventricular Canal

Complete Atrioventricular Septal Defect

Complete Atrioventricular Canal Defect

Complete Avsd

Complete Atrioventricular Septal Defect With Atrial And Ventricular Components

Hypertrophic Scars

Scars Hypertrophic

Hypertrophic Scarring

Obstructive Nephropathy

Con

Congenital Obstructive Nephropathy

Nephropathy Obstructive

Colon Adenocarcinoma

Adenocarcinoma Of Colon

Adenocarcinoma Of The Colon

Colonic Adenocarcinoma

Clear Cell Adenocarcinoma

Mesonephroma

Water-Clear Cell Adenocarcinoma

Adenocarcinoma, Clear Cell

Malignant Mesonephroma

Mesonephroid Clear Cell Carcinoma

Mesonephroma, Malignant

Water-Clear Cell Carcinoma

Wolffian Duct Neoplasm

Adenocarcinoma Clear Cell

Mesonephric Tumor

Dextrocardia

Heart Predominantly In Right Hemithorax

Heart In Right Chest

Right-Sided Heart

Congenital Dextrocardia Of Heart

Transposition Of Heart

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

Pancreatic Adenocarcinoma

Adenocarcinoma Of The Pancreas

Adenocarcinoma Of Pancreas

Pancreas Adenocarcinoma

Malignant Exocrine Neoplasm

Primary Pancreatic Adenocarcinoma

Adenocarcinoma Of Islet Cell Of Pancreas

Islet Cell Adenocarcinoma Of Unspecified Site

Mixed Adenocarcinoma Islet Cell With Exocrine Of Unspecified Site

Renal Fibrosis
Oral Submucous Fibrosis

Oral Submucosal Fibrosis, Including Of Tongue

Osmf

Oral Cavity Submucous Fibrosis

Oral Submucosal Fibrosis

Submucosal 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

Double Outlet Right Ventricle

Double Outlet Right Ventricle With Subpulmonary Ventricular Septal Defect

Taussig-Bing Syndrome

Dextrotransposition Of Aorta

Taussig-Bing Syndrome Or Defect

Dorv

Dorv With Subpulmonary Vsd

Dorv-Tga

Double Outlet Right Ventricle With Transposition Of The Great Arteries

Double Outlet Right Ventricle With Subpulmonary Interventricular Communication, Transposition Type

Taussig-Bing Heart

Taussig-Bing Malformation

Taussig-Bing Complex

Taussig-Bing Defect

Taussig-Bing

Double Outlet Right Ventricle With Remote Ventricular Septal Defect

Double Outlet Right Ventricle With Uncommitted Ventricular Septal Defect

Double Outlet Right Ventricle With Non-Committed Interventricular Communication

Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication Without Pulmonary Stenosis

Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication And Pulmonary Stenosis

Ureteral Disease

Ureteral Diseases

Ureteral Disorders

Disorder Of Ureter

Peyronie'S Disease

Induratio Penis Plastica

Peyronie Disease

Peyronies Disease

Peyronie'S Fibromatosis

Penile Induration

Balanitis Xerotica Obliterans

Endometrial Cancer

Endometrial Carcinoma

Endometrial Neoplasm

Malignant Neoplasm Of Endometrium

Endometrioid Carcinoma

Endometrial Neoplasms

Carcinoma, Endometrioid

Endometrial Cancer, Familial

Endometrial Carcinoma, Somatic

Endometrial Cancer, Susceptibility To

Endometrial Ca

Malignant Endometrial Neoplasm

Neoplasm Of Endometrium

Primary Malignant Neoplasm Of Endometrium

Tumor Of Endometrium

Carcinoma Of The Endometrium

Endometrioid Carcinoma Of Female Reproductive System

ENDMC

Carcinoma Endometrioid

Endometrial Cancers

Cancer, Endometrial

Uterine Corpus Cancer

Inflammatory Bowel Disease

Inflammatory Bowel Diseases

Bowel Disease, Inflammatory

Aortic Aneurysm

Aortic Rupture

Thoracoabdominal Aortic Aneurysm, Ruptured

Ruptured Aortic Aneurysm

Aortic Aneurysms

Aortic Aneurysm Without Mention Of Rupture Nos

Ruptured Abdominal Aortic Aneurysm

Aortic Aneurysm, Ruptured

Ruptured Thoracic Aortic Aneurysm

Glomerulonephritis

Bright'S Disease

Systemic Scleroderma

Scleroderma

Progressive Systemic Sclerosis

Systemic Sclerosis

Scleroderma, Systemic

Scleroderma Syndrome

Dermatosclerosis

Familial Progressive Scleroderma

Progressive Scleroderma

Scleroderma Disease

Scleroderma, Localized

Diffuse Scleroderma

Scleroderma, Familial Progressive

Pulmonary Hypertension

Primary Pulmonary Hypertension

Hypertension Pulmonary

Hypertension, Pulmonary

Hypertension, Pulmonary, Primary

Idiopathic Pulmonary Hypertension

Idiopathic Pulmonary Arterial Hypertension

Pulmonary Htn - [Hypertension]

Loeys-Dietz Syndrome 5

Rienhoff Syndrome

LDS5

Rnhf

Reinhoff Syndrome

Loeys-Dietz Syndrome, Type 5

Urinary Tract Obstruction

Obstructive Uropathy

Urinary Obstruction

Urologic Diseases

Holoprosencephaly

Holoprosencephaly Sequence

Hpe

Hpe - [Holoprosencephaly]

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

Uterine Corpus Endometrial Carcinoma
Loeys-Dietz Syndrome 3

LDS3

Aneurysms-Osteoarthritis Syndrome

Loeys-Dietz Syndrome With Osteoarthritis

Aneurysm-Osteoarthritis Syndrome

Lds1c

Loeys-Dietz Syndrome, Type 3

Loeys-Dietz Syndrome, Type 1c, Formerly

Lds1c, Formerly

Loeys-Dietz Syndrome Type 1c

Loeys-Dietz Syndrome Type 3

Aneurysm - Osteoarthritis Syndrome

Loeys-Dietz Syndrome, Type 1c

Aos

Loeys-Dietz Syndrome 1c

Loeys-Dietz Syndrome 4

LDS4

Aneurysm, Aortic And Cerebral, With Arterial Tortuosity And Skeletal Manifestations

Loeys-Dietz Syndrome Type 4

Aortic And Cerebral Aneurysm With Arterial Tortuosity And Skeletal Manifestations

Loeys-Dietz Syndrome, Type 4

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

Vitreous Disease

Disorder Of Vitreous Body

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

Rhabdomyosarcoma
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

Juvenile Polyposis Syndrome

JPS

Juvenile Intestinal Polyposis

Jip

Pji

Juvenile Gastrointestinal Polyposis

Juvenile Polyposis

Polyposis, Juvenile Intestinal

Polyposis, Familial, Of Entire Gastrointestinal Tract

Polyposis Familial Of Entire Gastrointestinal Tract

Polyposis Juvenile Intestinal

Polyposis Syndrome, Juvenile

Lung Cancer

Lung Carcinoma

Non-Small Cell Lung Carcinoma

Lung Cancer, Susceptibility To

Lung Cancer, Protection Against

Adenocarcinoma Of Lung, Somatic

Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer

Lung Neoplasm

Carcinoma Of Lung

Lung Non-Small Cell Carcinoma

Non-Small Cell Lung Cancer

Nsclc

Lung Neoplasms

Malignant Neoplasm Of Lung

Alveolar Cell Carcinoma

Nonsmall Cell Lung Cancer, Somatic

Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer, Susceptibility To

Lung Cancer, Somatic

Lung Cancer, Resistance To

Cancer Of Lung

Cancer Of Bronchus

Cancer Of The Lung

Lung Malignancies

Lung Malignant Tumors

Malignant Lung Tumor

Malignant Tumor Of Lung

Pulmonary Cancer

Pulmonary Carcinoma

Pulmonary Neoplasms

Respiratory Carcinoma

LNCR

Adenocarcinoma Of Lung

Neoplasm Of Lung

Cancer Lung

Carcinoma Non-Small Cell Lung

Carcinoma, Non-Small-Cell Lung

Lung Cancers

Lung Carcinomas

Cancer, Lung

Cancer, Lung, Non-Small Cell

Primary Malignant Neoplasm Of Lung

Bronchioloalveolar Adenocarcinoma

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

Aortic Valve Disease 1

Aortic Valve Disease

Bicuspid Aortic Valve

Aortic Valve Disorder

AOVD1

Bav

Bicuspid Aortic Valve Disease

Familial Bicuspid Aortic Valve

Aortic Valve Calcification

Aovd

Aortic Valve, Bicuspid

Aortic Valve, Calcification Of

Aortic Stenosis, Calcific

Familial Bav

Calcific Aortic Stenosis

Calcification Of Aortic Valve

Abnormality Of The Aortic Valve

Aortic Valve Disease, Type 1

Aortic Valve Disease 2

Bicommissural Aortic Valve

Intraocular Pressure Quantitative Trait Locus

Glaucoma

IOPQTL

Glaucoma, Susceptibility To

Postinfectious Glaucoma

Glaucoma With Ocular Inflammation

Glaucoma Secondary To Eye Inflammation

Traumatic Glaucoma

Glaucoma With Concussion Of Globe

Glaucoma Due To Ocular Trauma

Glaucoma Associated With Ocular Trauma

Glaucoma Secondary To Drugs

Iga Glomerulonephritis

Iga Nephropathy

Glomerulonephritis, Iga

Berger'S Iga Or Igg Nephropathy

Focal Glomerulonephritis

Primary Iga Nephropathy

Segmental Glomerulonephritis

Berger Disease

Berger'S Disease

Igan

Nephritis, Iga Type

Nephropathy Iga

Glomerulonephritis Focal

Iga Nephropathy, Susceptibility To

Primary Immunoglobulin A Nephropathy

Asthma

Chronic Obstructive Asthma

Asthma, Diminished Response To Antileukotriene Treatment In

Bronchial Hyperreactivity

Asthma, Susceptibility To

Asthma, Bronchial

Asthma, Protection Against

Asthma, Nocturnal, Susceptibility To

Nocturnal Asthma

Asthma-Related Traits

Asthma-Related Traits, Susceptibility To

Asthma, Nocturnal

Chronic Obstructive Asthma With Acute Exacerbation

Chronic Obstructive Asthma With Status Asthmaticus

Exercise Induced Asthma

Exercise-Induced Asthma

Bronchial Asthma

Asthma, Exercise-Induced

Idiosyncratic Asthma

Unspecified Asthma With Acute Exacerbation

Asthma, Unspecified, With Stated Status Asthmaticus

Status Asthmaticus Nos

Acute Severe Asthma

Acute Severe Bronchial Asthma

Status Asthma

Status Post Asthmaticus

Aortic Dissection
Prostate Cancer

Prostate Carcinoma

Prostate Cancer, Familial

Prostate Neoplasm

Prostate Cancer, Somatic

Prostate Cancer, Susceptibility To

Prostatic Cancer

Prostatic Neoplasms

Hereditary Prostate Cancer

Prostatic Neoplasm

Cancer Of Prostate

Carcinoma Of Prostate

Familial Prostate Cancer

Familial Prostate Carcinoma

Malignant Tumor Of Prostate

Malignant Neoplasm Of Prostate

Prostate Cancer, Familial, Susceptibility To

Malignant Tumor Of The Prostate

Ngp - New Growth Of Prostate

Tumor Of The Prostate

Prostate Cancer, Hereditary

Cancer Of The Prostate

Malignant Neoplasm Of The Prostate

Prostatic Carcinoma

PC

Prca

Cancer, Prostate

Malignant Prostatic Tumour

Malignant Tumour Of Prostate

Primary Prostate Cancer

Primary Malignant Neoplasm Of Prostate

Prostate Gland Cancer

Dyssegmental Dysplasia, Silverman-Handmaker Type

DDSH

Silverman-Handmaker Type Dyssegmental Dysplasia

Dyssegmental Dysplasia Silverman-Handmaker Type

Dyssegmental Dwarfism Silverman-Handmaker Type

Dyssegmental Dwarfism, Silverman-Handmaker Type

Anisospondylic Camptomicromelic Dwarfism, Silverman-Handmaker Type

Anisospondylic Camptomicromelic Dwarfism Silverman-Handmaker Type

Dysplasia, Dyssegmental, Silverman-Handmaker Type

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

Hereditary Hemorrhagic Telangiectasia

Rendu-Osler-Weber Disease

Hht

Osler-Weber-Rendu Disease

Telangiectasia, Hereditary Hemorrhagic

Osler Hemorrhagic Telangiectasia Syndrome

Orw Disease

Osler Weber Rendu Syndrome

Osler-Rendu-Weber Disease

Osler-Weber-Rendu Syndrome

Rendu-Osler Disease

Telangiectasia Hereditary Hemorrhagic

Telangiectasia Hemorrhagic, Hereditary

Hht - [Hereditary Haemorrhagic Telangiectasia]

Osler Haemorrhagic Telangiectasia Syndrome

Autosomal Dominant Intellectual Developmental Disorder 19

Autosomal Dominant Non-Syndromic Intellectual Disability 19

Autosomal Dominant Mental Retardation 19

Mrd19

Cowden Syndrome 6

CWS6

Cowden Syndrome, Type 6

Orthostatic Intolerance

Mitral Valve Prolapse

Neurocirculatory Asthenia

Mitral Valve Prolapse Syndrome

Irritable Heart

Systolic Click-Murmur Syndrome

Soldiers Heart

Cardiovascular Malfunction Arising From Mental Factors

Cardiovascular Neurosis

Da Costa'S Syndrome

Krishaber'S Disease

Barlow'S Syndrome

Floppy Mitral Valve

Mitral Leaflet Syndrome

Myxomatous Mitral Valve Prolapse

Postural Orthostatic Tachycardia Syndrome Due To Net Deficiency

Familial Orthostatic Tachycardia Due To Norepinephrine Transporter Deficiency

Orthostatic Intolerance Due To Net Deficiency

Pots Due To Net Deficiency

OI

Intolerance, Orthostatic

Mitral Valve Prolapse, Familial, X-Linked

Ballooning Mitral Valve

Barlow Syndrome

Flail Mitral Leaflet

Myxomatous Mitral Valve

Mitral Valve Prolapse-Click Syndrome

Prolapsing Mitral Valve Leaflet Syndrome

Billowing Mitral Valve Leaflet

Posterior Mitral Leaflet Deformity

Ballooning Posterior Leaflet Syndrome

Blue Valve Syndrome

Floppy Mitral Valve Syndrome

Mitral Valvular Prolapse

Systolic Click Syndrome

Squamous Cell Carcinoma, Head And Neck

Squamous Cell Carcinoma Of The Head And Neck

HNSCC

Head And Neck Squamous Cell Carcinoma

Squamous Cell Carcinoma Of Lip

Squamous Cell Carcinoma, Head And Neck, Somatic

Carcinoma Of The Head And Neck

Squamous Cell Carcinomas Of Head And Neck

Scchn

Squamous Cell Carcinoma Of The Hypopharynx

Squamous Cell Carcinoma Of The Oropharynx

Squamous Cell Carcinoma Of Salivary Glands

Squamous Cell Carcinoma Of The Nasal Cavity And Paranasal Sinuses

Squamous Cell Carcinoma Of The Nasal Cavity And Sinuses

Squamous Cell Carcinoma Of The Oral Cavity

Squamous Cell Carcinoma Of The Lip

Carcinoma, Squamous Cell Of Head And Neck

Lip Squamous Cell Carcinoma

Carcinoma, Squamous Cell, Head And Neck

Salivary Gland Squamous Cell Carcinoma

Cancer Of Head And Neck

Squamous Cell Carcinoma Of Oropharynx Nos

Orofacial Cleft

Cleft, Orofacial

Hypertension, Essential

Essential Hypertension

Hypertension

High Blood Pressure

Hypertension, Essential, Susceptibility To

Hypertensive Disease

Primary Hypertension

EHT

Hypertension, Salt-Sensitive Essential, Susceptibility To

Hyperpiesia

Idiopathic Hypertension

Hypertensive Disorder

Hypertension, Essential, Susceptibility To, 3

Hypertension, Essential 3

Hypertension, Essential, Salt-Sensitive

Hypertension, Essential, Susceptibility To, 6

Hypertension, Essential 6

Hypertension, Salt-Sensitive Essential

Hypertension, Susceptibility To

Hypertension, Essential, Susceptibility To, 4

Hypertension, Essential 4

Hypertension, Essential, Susceptibility To, 2

Hypertension, Essential 2

Hypertension, Essential, Susceptibility To, 1

Hypertension, Essential 1

Hypertension, Essential, Susceptibility To, 5

Hypertension, Essential 5

Htn

Vascular Hypertensive Disorder

Systemic Primary Arterial Hypertension

Hbp - [High Blood Pressure]

Systemic Arterial Hypertensive Disorder

Elevated Blood Pressure

Arterial Hypertension Nos

Hypertension Nos

Benign Hypertension

Systemic Arterial Hypertension

Systemic Hypertension

Artery Htn

Benign Htn

Vascular Htn

Vascular Hypertension

Cholesterol Hypertension

Cholesterol Htn

Idiopathic Htn

Malignant Hypertension

Malignant Htn

Raised Blood Pressure

Cardiovascular Hypertension

Primary Htn - [Hypertension]

High Arterial Tension

High Blood Pressure Disorder

Ht - [Hypertension]

Htn - [Hypertension]

Hypertensive Vascular Disease

Hypertensive Vascular Degeneration

Connective Tissue Disease

Connective Tissue Diseases

Connective Tissue Disorder

Abnormality Of Connective Tissue

Disorder Of Connective Tissue

Connective Tissue Disorders

Tetralogy Of Fallot

TOF

Fallot Tetralogy

Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle

Tetrad Of Fallot

Fallot Tetrad

Fallot Disease

Fallot Complex

Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy

Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle

Interventricular Septal Defect, In Tetralogy Of Fallot

Ventricular Septal Defect With Obstructed Right Ventricular Outflow

Tof - [Tetralogy Of Fallot]

Pulmonary Atresia With Ventricular Septal Defect [Fallot Type]

Pulmonary Atresia, Ventricular Septal Defect And Mapcas

Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]

Eye Disease

Eye Diseases

Abnormality Of The Eye

Toxoplasma Oculopathy

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy

Primary Dilated Cardiomyopathy

Idiopathic Dilated Cardiomyopathy

Congestive Cardiomyopathy

Idiopathic Dilation Cardiomyopathy

Primary Familial Dilated Cardiomyopathy

Cardiomyopathy, Dilated

DCM

Cardiomyopathy, Familial Dilated

Dilated Cardiomyopathy, Familial

Hypokinetic Dilated Cardiomyopathy, Familial

Familial Idiopathic Cardiomyopathy

Fdc

Cardiomyopathy, Familial Idiopathic

Idiopathic Cardiomegaly

Dilated Congestive Cardiomyopathy

Chronic Dilated Cardiomyopathy

Ccm - [Congestive Cardiomyopathy]

Cocm - [Congestive Cardiomyopathy]

Dcm - [Dilated Cardiomyopathy]

Dilated-Hypokinetic Cardiomyopathy

Congestive Idiopathic Cardiomyopathy

Primary Idiopathic Dilated Cardiomyopathy

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

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

Orthologs Information

Species Symbol Source ID
Mus musculus SMAD2 MGD MGI:108051
Macaca mulatta SMAD2 VGNC VGNC:77810
Felis catus SMAD2 VGNC VGNC:68130
Rattus norvegicus SMAD2 RGD RGD:3031
Bos taurus SMAD2 VGNC VGNC:34975
Canis familiaris SMAD2 VGNC VGNC:46519
Others SMAD2 NCBI