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SMAD6 and UACA
SMAD6
UACA
Description
SMAD family member 6
uveal autoantigen with coiled-coil domains and ankyrin repeats
Image
No pdb structure
No pdb structure
GO Annotations
Cellular Component
Chromatin
Nucleus
Nucleoplasm
Transcription Regulator Complex
Cytoplasm
Golgi Apparatus
Cytosol
Cilium
Nuclear Body
Protein-containing Complex
Ciliary Basal Body
Heteromeric SMAD Protein Complex
Extracellular Region
Nucleus
Nucleoplasm
Cytoplasm
Cytosol
Cytoskeleton
Extracellular Exosome
Molecular Function
Transcription Cis-regulatory Region Binding
Chromatin Binding
Protein Binding
Ubiquitin Protein Ligase Binding
Type I Transforming Growth Factor Beta Receptor Binding
Identical Protein Binding
Metal Ion Binding
Co-SMAD Binding
I-SMAD Binding
R-SMAD Binding
Activin Receptor Binding
Type I Activin Receptor Binding
Protein Sequestering Activity
Transcription Regulator Inhibitor Activity
Actin Binding
Protein Binding
Biological Process
Ureteric Bud Development
Outflow Tract Septum Morphogenesis
Heart Valve Development
Aortic Valve Morphogenesis
Mitral Valve Morphogenesis
Pulmonary Valve Morphogenesis
Ventricular Septum Development
Regulation Of DNA-templated Transcription
Regulation Of Transcription By RNA Polymerase II
Immune Response
Zygotic Specification Of Dorsal/ventral Axis
Negative Regulation Of Cell Population Proliferation
Anatomical Structure Morphogenesis
Cell Differentiation
Negative Regulation Of Ossification
BMP Signaling Pathway
Negative Regulation Of Transforming Growth Factor Beta Receptor Signaling Pathway
Negative Regulation Of BMP Signaling Pathway
Cell-substrate Adhesion
Response To Lipopolysaccharide
Negative Regulation Of Activin Receptor Signaling Pathway
Response To Laminar Fluid Shear Stress
Aorta Development
Negative Regulation Of Apoptotic Process
Response To Estrogen
Fat Cell Differentiation
Negative Regulation Of Cell Differentiation
Negative Regulation Of Osteoblast Differentiation
Negative Regulation Of SMAD Protein Signal Transduction
SMAD Protein Signal Transduction
Coronary Vasculature Development
Cellular Response To Growth Factor Stimulus
Transforming Growth Factor Beta Receptor Superfamily Signaling Pathway
Positive Regulation Of MiRNA Transcription
Intrinsic Apoptotic Signaling Pathway In Response To DNA Damage
Intrinsic Apoptotic Signaling Pathway In Response To Oxidative Stress
Negative Regulation Of Inflammatory Response
Negative Regulation Of Non-canonical NF-kappaB Signal Transduction
Pathways
Signaling by BMP
RUNX2 regulates bone development
RHOH GTPase cycle
Regulation of the apoptosome activity
Drugs
Diseases
GWAS
Appendicular lean mass (
33097823
)
Asthma (
29273806
31959851
)
Asthma (adult onset) (
31036433
)
Asthma (childhood onset) (
31036433
)
Carpal tunnel syndrome (
30833571
)
Dental caries (decayed and filled deciduous teeth) (
31533690
)
Glaucoma (primary open-angle) (
33627673
)
Height (
31562340
)
Hematocrit (
32888494
)
Hemoglobin (
32888494
)
Hemoglobin levels (
32327693
)
Hip circumference adjusted for BMI (
34021172
)
Lung cancer (smoking interaction) (
24658283
)
Mean corpuscular hemoglobin (
32888494
)
Mean corpuscular volume (
32888494
)
Refractive error (
32231278
)
Severe aortic features in Marfan syndrome (
30087447
)
Subcutaneous adipose tissue (
22589738
)
Waist-hip ratio (
25673412
)
Waist-to-hip ratio adjusted for BMI (adjusted for smoking behaviour) (
28443625
)
Waist-to-hip ratio adjusted for body mass index (
25673412
)
Atrial fibrillation (
29892015
)
Pulmonary function (
23932459
)
Interacting Genes
17 interacting genes:
BMPR1B
CHRM5
HOXC8
MAP3K7
MAPK6
RNF111
RPS6KA5
RUNX2
SMAD1
SMAD7
SMURF1
SMURF2
STAMBP
STRAP
TAB1
TGFBR1
TOB1
13 interacting genes:
AHCYL1
ANKRD28
CCDC125
CELSR3
HIF1AN
JPH1
KRT31
KRT40
MED14
PRKAR1B
RTP2
STAMBP
UBQLN2
Entrez ID
4091
55075
HPRD ID
04240
11657
Ensembl ID
ENSG00000137834
ENSG00000137831
Uniprot IDs
O43541
Q9BZF9
PDB IDs
Enriched GO Terms of Interacting Partners
?
Transforming Growth Factor Beta Receptor Superfamily Signaling Pathway
SMAD Binding
Cell Surface Receptor Protein Serine/threonine Kinase Signaling Pathway
I-SMAD Binding
Regulation Of Cartilage Development
Positive Regulation Of Cartilage Development
Regulation Of Transmembrane Receptor Protein Serine/threonine Kinase Signaling Pathway
Enzyme-linked Receptor Protein Signaling Pathway
Regulation Of Cellular Response To Growth Factor Stimulus
Transforming Growth Factor Beta Receptor Signaling Pathway
Regulation Of Chondrocyte Differentiation
Negative Regulation Of BMP Signaling Pathway
Regulation Of Transforming Growth Factor Beta Receptor Signaling Pathway
Positive Regulation Of Chondrocyte Differentiation
Negative Regulation Of Transmembrane Receptor Protein Serine/threonine Kinase Signaling Pathway
Cell Surface Receptor Signaling Pathway
Positive Regulation Of Multicellular Organismal Process
BMP Signaling Pathway
SMAD Protein Signal Transduction
Osteoblast Fate Commitment
Regulation Of Signaling
Negative Regulation Of Signal Transduction
Negative Regulation Of Transforming Growth Factor Beta Receptor Signaling Pathway
Protein Serine/threonine Kinase Activity
Negative Regulation Of Cell Communication
Negative Regulation Of Signaling
Signal Transduction
Negative Regulation Of Chondrocyte Proliferation
Transforming Growth Factor Beta Receptor Activity, Type I
Regulation Of BMP Signaling Pathway
Negative Regulation Of Cellular Response To Growth Factor Stimulus
Activin Receptor Binding
Cellular Response To Growth Factor Stimulus
Regulation Of Multicellular Organismal Process
Regulation Of Cell Communication
Positive Regulation Of Developmental Process
Regulation Of Osteoblast Differentiation
Protein Kinase Activity
Transferase Activity
Heteromeric SMAD Protein Complex
Positive Regulation Of CGAS/STING Signaling Pathway
Regulation Of Signal Transduction
Protein-containing Complex
Regulation Of Metabolic Process
Response To Growth Factor
Intracellular Signal Transduction
Type II Transforming Growth Factor Beta Receptor Binding
Regulation Of Macromolecule Metabolic Process
Protein Phosphorylation
Regulation Of Primary Metabolic Process
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