SMAD6 - SMAD family member 6 Gene

Also Known as AOVD2; MADH6; MADH7; HsT17432

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4091

About SMAD6

Cytogenetic location: 15q22.31 Genomic coordinates (GRCh38): 15:66,702,236-66,782,849 (from NCBI)

This gene has 5 transcripts (splice variants), 264 orthologues, 7 paralogues and is associated with 4 phenotypes. Broad expression in lung (RPKM 6.3), placenta (RPKM 2.8) and 18 other tissues.

Summary

The protein encoded by this gene belongs to the Smad Family of proteins, which are related to Drosophila 'mothers against decapentaplegic' (Mad) and C. elegans Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein functions in the negative regulation of BMP and TGF-beta/activin-signalling. Multiple transcript variants have been found for this gene.[provided by RefSeq, Sep 2014]

SMAD6 Products (1)

mRNA	Protein	Name
NM_005585.5	NP_005576.3	mothers against decapentaplegic homolog 6

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables I-SMAD binding	IPI IPI: Inferred from physical interaction	9256479	GOA
enables R-SMAD binding	IPI IPI: Inferred from physical interaction	9256479	GOA
enables chromatin binding	IDA IDA: Inferred from direct assay	16491121	GOA
enables co-SMAD binding	IPI IPI: Inferred from physical interaction	9256479	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	9436979	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	9436979	GOA
enables protein sequestering activity	IDA IDA: Inferred from direct assay	33667543	GOA
enables transcription cis-regulatory region binding	IDA IDA: Inferred from direct assay	16491121	GOA
enables transcription regulator inhibitor activity	IDA IDA: Inferred from direct assay	9256479	GOA
enables type I activin receptor binding	IDA IDA: Inferred from direct assay	9436979	GOA
enables type I transforming growth factor beta receptor binding	IDA IDA: Inferred from direct assay	9436979	GOA
enables ubiquitin protein ligase binding	IPI IPI: Inferred from physical interaction	11278251	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in BMP signaling pathway	IDA IDA: Inferred from direct assay	23455153	GOA
involved in aortic valve morphogenesis	IMP IMP: Inferred from mutant phenotype	22275001	GOA
involved in cell-substrate adhesion	IMP IMP: Inferred from mutant phenotype	16491121	GOA
involved in fat cell differentiation	IDA IDA: Inferred from direct assay	23455153	GOA
involved in immune response	IMP IMP: Inferred from mutant phenotype	16886151	GOA
involved in negative regulation of BMP signaling pathway	IDA IDA: Inferred from direct assay	9436979	GOA
involved in negative regulation of BMP signaling pathway	IMP IMP: Inferred from mutant phenotype	22275001	GOA
involved in negative regulation of SMAD protein signal transduction	IDA IDA: Inferred from direct assay	9436979	GOA
involved in negative regulation of SMAD protein signal transduction	IMP IMP: Inferred from mutant phenotype	19047146	GOA
involved in negative regulation of activin receptor signaling pathway	IDA IDA: Inferred from direct assay	16720724	GOA
involved in negative regulation of apoptotic process	IMP IMP: Inferred from mutant phenotype	19047146	GOA
involved in negative regulation of cell population proliferation	IMP IMP: Inferred from mutant phenotype	19047146	GOA
involved in negative regulation of osteoblast differentiation	IMP IMP: Inferred from mutant phenotype	22275001	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	19047146	GOA
involved in response to laminar fluid shear stress	IEP IEP: Inferred from expression pattern	9256479	GOA
involved in response to lipopolysaccharide	IDA IDA: Inferred from direct assay	19193853	GOA
involved in zygotic specification of dorsal/ventral axis	IMP IMP: Inferred from mutant phenotype	9436979	GOA

Cellular Component GO Annotation	Evidence	References	Source
is active in cytoplasm	IDA IDA: Inferred from direct assay	33667543	GOA
located in nucleus	IDA IDA: Inferred from direct assay	16491121	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

SMAD6 Protein Structure

MH1

MH2

0
100
200
300
400
496 a.a.

Protein Preferred Names	Protein Names
mothers against decapentaplegic homolog 6	MAD homolog 6

SMAD6 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SMAD6	O43541	SMAD1	Homo sapiens	Q15797	Anti Tag CoIP	9436979
Intra	SMAD6	O43541	MAPK6	Homo sapiens	Q16659	Y2H	21900206
Intra	SMAD6	O43541	ubiq_human	Homo sapiens	DIP-24261N	Anti Tag CoIP	23610558
Intra	SMAD6	O43541	RUNX2	Homo sapiens	Q13950	Anti Tag CoIP	16299379
Intra	SMAD6	O43541	Runx2	Mus musculus	Q08775	Anti Tag CoIP	16299379
Intra	SMAD6	O43541	CHRM5	Homo sapiens	P08912	Ub Reconstruction	28298427
Intra	SMAD6	O43541	UBE2O	Homo sapiens	Q9C0C9	Anti Tag CoIP	23455153
Intra	SMAD6	O43541	SMAD6	Homo sapiens	O43541	Y2H	9436979
Intra	SMAD6	O43541	SMAD6	Homo sapiens	O43541	Anti Tag CoIP	9436979
Intra	SMAD6	O43541	RPS6KA5	Homo sapiens	O75582	Y2H	21900206

Cross: Cross-species interaction Intra: Intraspecies interaction

SMAD6 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83842	SMAD6 Antibody (YA3539)	WB, ELISA	Human
HY-P83842A	SMAD6 Antibody (YA3539)(PBS only)	WB, ELISA	Human
HY-P85370	SMAD6 Antibody (YA5062)	WB	Human

Related Diseases

Diseases	Alias
Craniosynostosis 7	Craniosynostosis 7, Susceptibility To CRS7 Craniosynostosis 7, Digenic Crs7, Digenic Craniosynostosis, Susceptibility To, Type 7
Aortic Valve Disease 2	Aortic Valve Stenosis Aortic Stenosis Rheumatic Aortic Stenosis AOVD2 Bicuspid Aortic Valve Rheumatic Aortic Valve Stenosis Valvular Aortic Stenosis Aortic Valve Disease, Type 2 Aortic Valve Stricture Aortic Valve Obstruction Obstructed Aorta Valve Rheumatic Aortic Obstruction Rheumatic Aortic Valve Obstruction Rheumatic Aortic Stricture Aortic Valve Regurgitation Aortic Insufficiency With Stenosis Rheumatic Aortic Valve Stenosis With Insufficiency Rheumatic Aortic Stenosis With Incompetence Rheumatic Aortic Stenosis With Regurgitation
Radioulnar Synostosis, Nonsyndromic	RUS Radioulnar Synostosis, Nonsyndromic, Susceptibility To Radioulnar Synostosis, Non-Syndromic
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
Plagiocephaly	Asymmetric Head Lateral Curvatures Of Skull Unequal Unicoronal Synostosis
Radioulnar Synostosis	Radio-Ulnar Synostosis Type 1
Craniosynostosis	Premature Closure Of Cranial Sutures Craniostenosis Craniosynostosis Syndrome Cso Craniosynostoses Congenital Ossification Of Cranial Sutures Congenital Ossification Of Sutures Of Skull Craniostosis Imperfect Fusion Of Skull Congenital Imperfect Closure Skull Imperfect Closure Skull Premature Closure Cranium Sutures Deficiency Of Craniofacial Axis
Polydactyly	Non-Syndromic Polydactyly Polydactyly, Postaxial Postaxial Polydactyly Supernumerary Digit Extra Digits Hyperdactyly Polydactylia Polydactylism Supernumerary Digits
Heart Disease	Heart Failure Congenital Heart Disease Heart Diseases Congenital Heart Defects Congenital Heart Defect Heart Malformation Congenital Anomaly Of Heart Heart Defect Heart-Congenital Defect Congenital Heart Disorder Heart Defects Congenital Heart Defects, Congenital Heart Defects Heart Disease, Congenital Disease, Heart, Congenital Congestive Heart Failure
Heart, Malformation Of
Synostosis
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
Esophageal Atresia	Tracheoesophageal Fistula Congenital Atresia Of Esophagus Congenital Imperforate Esophagus Imperforate Esophagus Oesophageal Atresia Te Fistula Tef Tracheoesophageal Fistula With Or Without Esophageal Atresia
Hypoplastic Left Heart Syndrome	Hlhs Heart, Hypoplastic Left, Syndrome Hypoplasia Of The Left Heart Left Heart Hypoplasia Syndrome Hlhs - [Hypoplastic Left Heart Syndrome] Hypoplasia Of Aortic Valve, In Hypoplastic Left Heart Syndrome Atresia Of Mitral Valve, In Hypoplastic Left Heart Syndrome Atresia Or Marked Hypoplasia Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle Atresia Or Marked Hypoplasia, Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle With Mitral Valve Atresia Aortic Valve Atresia, In Hypoplastic Left Heart Syndrome Ascending Aorta Hypoplasia, In Hypoplastic Left Heart Syndrome
Cowden Syndrome 6	CWS6 Cowden Syndrome, Type 6
Spinal Muscular Atrophy, Type Iv	SMA4 Spinal Muscular Atrophy, Adult Form Spinal Muscular Atrophy 4 Spinal Muscular Atrophy-4 Adult Spinal Muscular Atrophy Spinal Muscular Atrophy, Proximal, Adult, Autosomal Recessive Proximal Spinal Muscular Atrophy Type 4 Sma Type 4 Sma Type Iv Sma-Iv Sma Iv Spinal Muscular Atrophy Adult Form Spinal Muscular Atrophy Proximal Adult Autosomal Recessive Spinal Muscular Atrophy Type Iv Atrophy, Muscular, Spinal, Type Iv Myelopathic Muscular Atrophy
Chronic Pulmonary Heart Disease
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
Giant Axonal Neuropathy 1, Autosomal Recessive	Giant Axonal Neuropathy Giant Axonal Neuropathy 1 Gan GAN1 Giant Axonal Neuropathy-1 Neuropathy, Giant Axonal Giant Axonal Disease Neuropathy, Axonal, Giant, Type 1
Loeys-Dietz Syndrome	Loeys-Dietz Aortic Aneurysm Syndrome Lds Aortic Aneurysm Syndrome Due To Tgf-Beta Receptors Anomalies Furlong Syndrome
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
Brachydactyly, Type A2	Brachydactyly Type A2 BDA2 Mohr-Wriedt Type Brachydactyly Brachymesophalangy Ii Brachymesophalangy Type 2 Brachymesophalangy 2 Brachydactyly, Mohr-Wriedt Type Brachydactyly A2
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
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

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

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13397	SMAD6 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18407	Smad6 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24888	Smad6 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	SMAD6	VGNC	VGNC:77814
Bos taurus	SMAD6	VGNC	VGNC:34979
Rattus norvegicus	SMAD6	RGD	RGD:1305069
Felis catus	SMAD6	VGNC	VGNC:80841
Canis familiaris	SMAD6	VGNC	VGNC:46523
Mus musculus	SMAD6	MGD	MGI:1336883
Others	SMAD6	NCBI