Entity Details

Primary name SMAD6_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO43541
EntryNameSMAD6_HUMAN
FullNameMothers against decapentaplegic homolog 6
TaxID9606
Evidenceevidence at protein level
Length496
SequenceStatuscomplete
DateCreated2001-05-04
DateModified2021-06-02

Ontological Relatives

GenesSMAD6

GO terms

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GOName
GO:0000785 chromatin
GO:0000976 transcription cis-regulatory region binding
GO:0001657 ureteric bud development
GO:0003148 outflow tract septum morphogenesis
GO:0003180 aortic valve morphogenesis
GO:0003183 mitral valve morphogenesis
GO:0003184 pulmonary valve morphogenesis
GO:0003281 ventricular septum development
GO:0003682 chromatin binding
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0006955 immune response
GO:0007179 transforming growth factor beta receptor signaling pathway
GO:0007352 zygotic specification of dorsal/ventral axis
GO:0008285 negative regulation of cell population proliferation
GO:0009653 anatomical structure morphogenesis
GO:0010991 negative regulation of SMAD protein complex assembly
GO:0016604 nuclear body
GO:0030154 cell differentiation
GO:0030279 negative regulation of ossification
GO:0030509 BMP signaling pathway
GO:0030512 negative regulation of transforming growth factor beta receptor signaling pathway
GO:0030514 negative regulation of BMP signaling pathway
GO:0031589 cell-substrate adhesion
GO:0031625 ubiquitin protein ligase binding
GO:0032496 response to lipopolysaccharide
GO:0032991 protein-containing complex
GO:0034616 response to laminar fluid shear stress
GO:0034713 type I transforming growth factor beta receptor binding
GO:0035904 aorta development
GO:0042802 identical protein binding
GO:0043066 negative regulation of apoptotic process
GO:0043627 response to estrogen
GO:0045444 fat cell differentiation
GO:0045668 negative regulation of osteoblast differentiation
GO:0046872 metal ion binding
GO:0060394 negative regulation of pathway-restricted SMAD protein phosphorylation
GO:0060395 SMAD protein signal transduction
GO:0060976 coronary vasculature development
GO:0070410 co-SMAD binding
GO:0070411 I-SMAD binding
GO:0070412 R-SMAD binding
GO:0070698 type I activin receptor binding
GO:0071144 heteromeric SMAD protein complex
GO:0140416 transcription regulator inhibitor activity
GO:1902895 positive regulation of pri-miRNA transcription by RNA polymerase II

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR001132 SMAD domain, Dwarfin-typeDomainDomain
IPR003619 MAD homology 1, Dwarfin-typeDomainDomain
IPR008984 SMAD/FHA domain superfamilyFamilyHomologous superfamily
IPR013019 MAD homology, MH1DomainDomain
IPR013790 DwarfinFamilyFamily
IPR017855 SMAD-like domain superfamilyFamilyHomologous superfamily
IPR036578 SMAD MH1 domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
614823 OMIMAortic valve disease 2 (AOVD2)A common defect in the aortic valve in which two rather than three leaflets are present. It is often associated with aortic valve calcification, stenosis and insufficiency. In extreme cases, the blood flow may be so restricted that the left ventricle fails to grow, resulting in hypoplastic left heart syndrome. The disease is caused by variants affecting the gene represented in this entry. SMAD6 variants may contribute to increased risk of congenital cardiovascular malformations (CVM). CVM is a major cause of mortality and morbidity in childhood. In most sporadic cases that cannot be attributed to particular malformation syndromes or teratogenic exposures, there remains a substantial excess familial risk, indicating a significant genetic contribution to disease susceptibility (PubMed:22275001).
179300 OMIMRadioulnar synostosis, non-syndromic (RUS)An autosomal dominant disease characterized by proximal fusion of the radius and ulna resulting in extremely limited pronation and supination of the forearm. There are two disease forms. Radioulnar synostosis type 1 is characterized by a proximal fusion between the radius and ulna, and the radial head is absent. Radioulnar synostosis type 2 is characterized by a fusion just distal to the proximal radial epiphysis, and congenital dislocation of the radial head. In radioulnar synostosis type 2 there is also a restriction of extension at the elbow. Disease susceptibility is associated with variants affecting the gene represented in this entry.
617439 OMIMCraniosynostosis 7 (CRS7)A form of craniosynostosis, a primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability. Disease susceptibility is associated with variants affecting the gene represented in this entry. Rare heterozygous SMAD6 variants are strongly associated with non-syndromic midline craniosynostosis and confer a very high risk for disease development, in the presence of a common risk allele (rs1884302) near the BMP2 locus.

Interactions

54 interactions

InteractorPartnerSourcesPublicationsLink
SMAD6_HUMANSMUF2_HUMANBioGRID, HPRD, MINT15221015 15231748 15761153 24850914 details
SMAD6_HUMANSTABP_HUMANBioGRID, HPRD, IntAct11483516 details
SMAD6_HUMANPRKX_HUMANUniProt16491121 details
SMAD6_HUMANMK06_HUMANBioGRID, MINT21900206 details
SMAD6_HUMANKS6A5_HUMANBioGRID, MINT21900206 details
SMAD6_HUMANFKB1A_HUMANbhf-ucl16720724 details
SMAD6_HUMANSMAD6_HUMANbhf-ucl9436979 details
SMAD6_HUMANSMAD1_HUMANbhf-ucl, BioGRID, HPRD11483516 12857866 9256479 9436979 details
SMAD6_HUMANACM5_HUMANBioGRID, MINT28298427 details
SMAD6_HUMANPIAS4_HUMANBioGRID12815042 details
SMAD6_HUMANHXC8_HUMANBioGRID, HPRD10722652 details
SMAD6_HUMANSMAD7_HUMANBioGRID, HPRD26555259 9256479 details
SMAD6_HUMANSMUF1_HUMANBioGRID, HPRD11278251 15221015 17676934 21897371 28847510 29950561 details
SMAD6_HUMANTOB1_HUMANHPRD12782279 details
SMAD6_HUMANRUNX2_HUMANHPRD, IntAct16299379 details
SMAD6_HUMANUBE2O_HUMANBioGRID, MINT23455153 details
SMAD6_HUMANRN165_HUMANDIP23610558 details
SMAD6_HUMANCTBP1_HUMANBioGRID14645520 24850914 details
SMAD6_HUMANRN111_HUMANBioGRID, HPRD14657019 details
SMAD6_HUMANM3K7_HUMANBioGRID, HPRD10748100 11737269 details
SMAD6_HUMANTAB1_HUMANBioGRID, HPRD11737269 details
SMAD6_HUMANSTRAP_HUMANBioGRID, HPRD10757800 details
SMAD6_HUMANYAP1_HUMANBioGRID12118366 details
SMAD6_HUMANSMAD2_HUMANBioGRID9256479 details
SMAD6_HUMANSMAD4_HUMANBioGRID15817471 9256479 details
SMAD6_HUMANNEDD4_HUMANBioGRID15496141 details
SMAD6_HUMANWWP1_HUMANBioGRID15221015 15359284 24850914 details
SMAD6_HUMANZEB1_HUMANBioGRID20514018 details
SMAD6_HUMANT22D1_HUMANBioGRID21791611 details
SMAD6_HUMANSMAD5_HUMANBioGRID12857866 details
SMAD6_HUMANPELI1_HUMANBioGRID16951688 details
SMAD6_HUMANBMR1B_HUMANBioGRID, HPRD11483516 15761153 9436979 details
SMAD6_HUMANTGFR1_HUMANBioGRID, HPRD20663871 9335505 9436979 details
SMAD6_HUMANACTY_HUMANBioGRID9436979 details
SMAD6_HUMANBAMBI_HUMANBioGRID19758997 details
SMAD6_HUMANBMPR2_HUMANBioGRID20663871 details
SMAD6_HUMANACVR1_HUMANBioGRID20663871 23455153 details
SMAD6_HUMANBMR1A_HUMANBioGRID20663871 details
SMAD6_HUMANACV1B_HUMANBioGRID20663871 details
SMAD6_HUMANAVR2B_HUMANBioGRID20663871 details
SMAD6_HUMANMYD88_HUMANBioGRID21897371 details
SMAD6_HUMANUBP11_HUMANBioGRID24850914 details
SMAD6_HUMANUBP15_HUMANBioGRID24850914 details
SMAD6_HUMANBPIA1_HUMANBioGRID24850914 details
SMAD6_HUMANLYSC_HUMANBioGRID24850914 details
SMAD6_HUMANPIGR_HUMANBioGRID24850914 details
SMAD6_HUMANWWP2_HUMANBioGRID24850914 details
SMAD6_HUMANITCH_HUMANBioGRID24850914 details
SMAD6_HUMANNED4L_HUMANBioGRID24850914 details
SMAD6_HUMANNASP_HUMANBioGRID24850914 details
SMAD6_HUMANIMA1_HUMANBioGRID24850914 details
SMAD6_HUMANCTBP2_HUMANBioGRID24850914 details
SMAD6_HUMANPIAS3_HUMANBioGRID29950561 details
SMAD6_HUMANTNAP3_HUMANBioGRID29720226 details