SMAD9 - SMAD family member 9 Gene
Also Known as PPH2; MADH6; MADH9; SMAD8; SMAD8A; SMAD8B; SMAD8/9
Species: Homo sapiens
About SMAD9
This gene has 4 transcripts (splice variants), 66 orthologues, 7 paralogues and is associated with 2 phenotypes. Broad expression in thyroid (RPKM 18.3), prostate (RPKM 5.8) and 17 other tissues.
Summary
The protein encoded by this gene is a member of the Smad Family, which transduces signals from TGF-beta family members. The encoded protein is activated by bone morphogenetic proteins and interacts with SMAD4. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]
SMAD9 Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_001127217.3 | NP_001120689.1 | mothers against decapentaplegic homolog 9 isoform a |
| NM_001378621.1 | NP_001365550.1 | mothers against decapentaplegic homolog 9 isoform b |
| NM_005905.6 | NP_005896.1 | mothers against decapentaplegic homolog 9 isoform b |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
15231748 | GOA |
SMAD9 Protein Structure
MH1: MH1 domain (35 - 135)
MH2: MH2 domain (268 - 444)
- 0
- 100
- 200
- 300
- 400
- 467 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
mothers against decapentaplegic homolog 9 |
|
SMAD9 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
SMAD9 | O15198 | LEMD3 | Homo sapiens | Q9Y2U8 | 15231748 | |
|
Intra
|
SMAD9 | O15198 | LEMD3 | Homo sapiens | Q9Y2U8 | 33961781 | |
|
Intra
|
SMAD9 | O15198 | SMAD4 | Homo sapiens | Q13485 | 31515488 | |
|
Intra
|
SMAD9 | O15198 | SMAD4 | Homo sapiens | Q13485 | 25502805 | |
|
Intra
|
SMAD9 | O15198 | PRMT6 | Homo sapiens | Q96LA8 | 23455924 | |
|
Intra
|
SMAD9 | O15198 | PRMT6 | Homo sapiens | Q96LA8 | 23455924 |
SMAD9 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P83771 | Phospho-Smad1/5/9 (S463/S465/S467)Antibody(YA3567) | WB, IHC-P, ICC/IF | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Pulmonary Hypertension, Primary, 2 |
|
|
| Heritable Pulmonary Arterial Hypertension |
|
|
| Pulmonary Arterial Hypertension Associated With Congenital Heart Disease |
|
|
| Pulmonary Hypertension |
|
|
| Monocular Esotropia |
|
|
| Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
|
| Pulmonary Venoocclusive Disease |
|
|
| Coenzyme Q10 Deficiency, Primary, 1 |
|
|
| Deafness, Autosomal Dominant 69 |
|
|
| Syndromic X-Linked Intellectual Disability 94 |
|
|
| Epilepsy, X-Linked, With Variable Learning Disabilities And Behavior Disorders |
|
|
| Ciliary Dyskinesia, Primary, 3 |
|
|
| Immunodeficiency 31c |
|
|
| Chronic Pulmonary Heart Disease |
|
|
| Microcephaly And Chorioretinopathy 1 |
|
|
| Joubert Syndrome 33 |
|
|
| 46,Xy Sex Reversal 9 |
|
|
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
|
| Cowden Syndrome 6 |
|
|
| Developmental And Epileptic Encephalopathy 60 |
|
|
| Neuropathy, Hereditary Sensory, Type Id |
|
|
| Ectodermal Dysplasia 5, Hair/Nail Type |
|
|
| Ectodermal Dysplasia 6, Hair/Nail Type |
|
|
| Ectodermal Dysplasia 7, Hair/Nail Type |
|
|
| Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
|
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 |
|
|
| Chromosome 2q35 Duplication Syndrome |
|
|
| Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
|
| Mitochondrial Dna Depletion Syndrome 12b |
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2e |
|
|
| Lethal Congenital Contracture Syndrome 4 |
|
|
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
|
| Distal Arthrogryposis |
|
|
| Esotropia |
|
|
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
|
| Hereditary Hemorrhagic Telangiectasia |
|
|
| Developmental And Epileptic Encephalopathy 11 |
|
|
| Arteriovenous Malformation |
|
|
| Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
|
| Cleft Palate, Isolated |
|
|
| Osteoporosis |
|
|
| Atrial Heart Septal Defect |
|
|
| Patent Foramen Ovale |
|
|
| Patent Ductus Arteriosus 1 |
|
|
| Strabismus |
|
|
| Cryptorchidism, Unilateral Or Bilateral |
|
|
| Osteochondrodysplasia |
|
|
| Fundus Dystrophy |
|
|
| Tetralogy Of Fallot |
|
|
| Leber Plus Disease |
|
|
| Cone-Rod Dystrophy 2 |
|
|
| Congenital Nervous System Abnormality |
|
|
| Retinitis Pigmentosa |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | SMAD9 | VGNC | VGNC:46525 |
| Mus musculus | SMAD9 | MGD | MGI:1859993 |
| Macaca mulatta | SMAD9 | VGNC | VGNC:77815 |
| Felis catus | SMAD9 | VGNC | VGNC:68134 |
| Rattus norvegicus | SMAD9 | RGD | RGD:71004 |
| Bos taurus | SMAD9 | VGNC | VGNC:34981 |
| Others | SMAD9 | NCBI |