Gene Gene information from NCBI Gene database.
Entrez ID 4093
Gene name SMAD family member 9
Gene symbol SMAD9
Synonyms (NCBI Gene)
MADH6MADH9PPH2SMAD8SMAD8/9SMAD8ASMAD8B
Chromosome 13
Chromosome location 13q13.3
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 is
SNPs SNP information provided by dbSNP.
5
SNP ID Visualize variation Clinical significance Consequence
rs78249575 C>T Likely-benign, conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs121918359 G>A,T Pathogenic Intron variant, stop gained, synonymous variant, coding sequence variant
rs146583835 G>A,T Likely-pathogenic Stop gained, coding sequence variant, synonymous variant
rs397514715 T>C Pathogenic Coding sequence variant, missense variant
rs397514716 G>A Pathogenic Stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
494
miRTarBase ID miRNA Experiments Reference
MIRT020446 hsa-miR-106b-5p Microarray 17242205
MIRT053445 hsa-miR-203a-3p Microarray 23807165
MIRT550327 hsa-miR-1277-5p HITS-CLIP 21572407
MIRT550326 hsa-miR-5011-5p HITS-CLIP 21572407
MIRT550325 hsa-miR-511-3p HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
43
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding TAS 25534700
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603295 6774 ENSG00000120693
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O15198
Protein name Mothers against decapentaplegic homolog 9 (MAD homolog 9) (Mothers against DPP homolog 9) (Madh6) (SMAD family member 9) (SMAD 9) (Smad9)
Protein function Transcriptional modulator activated by BMP (bone morphogenetic proteins) type 1 receptor kinase. SMAD9 is a receptor-regulated SMAD (R-SMAD).
PDB 6FZT
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03165 MH1 34 135 MH1 domain Domain
PF03166 MH2 271 443 MH2 domain Family
Tissue specificity TISSUE SPECIFICITY: Expressed in heart, brain, placenta, lung, skeletal muscle, prostate, testis, ovary and small intestine. Also expressed in fetal brain, lung and kidney.
Sequence
MHSTTPISSLFSFTSPAVKRLLGWKQGDEEEKWAEKAVDSLVKKLKKKKGAMDELERALS
CPGQPSKCVTIPRSLDGRLQVSHRKGLPHVIYCRVWRWPDLQSHHELKPLECCEFPFGSK
QKEVCINPYHYRRVE
TPVLPPVLVPRHSEYNPQLSLLAKFRSASLHSEPLMPHNATYPDS
FQQPPCSALPPSPSHAFSQSPCTASYPHSPGSPSEPESPYQHSVDTPPLPYHATEASETQ
SGQPVDATADRHVVLSIPNGDFRPVCYEEPQHWCSVAYYELNNRVGETFQASSRSVLIDG
FTDPSNNRNRFCLGLLSNVNRNSTIENTRRHIGKGVHLYYVGGEVYAECVSDSSIFVQSR
NCNYQHGFHPATVCKIPSGCSLKVFNNQLFAQLLAQSVHHGFEVVYELTKMCTIRMSFVK
GWGAEYHRQDVTSTPCWIEIHLH
GPLQWLDKVLTQMGSPHNPISSVS
Sequence length 467
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Hormone signaling
TGF-beta signaling pathway
Signaling pathways regulating pluripotency of stem cells
  Signaling by BMP
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
160
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Pulmonary arterial hypertension associated with congenital heart disease Likely pathogenic; Pathogenic rs146583835 RCV000664174
Pulmonary hypertension, primary, 2 Pathogenic; Likely pathogenic rs2138492919, rs765156859, rs2138382043, rs2500815485, rs121918359, rs1162780893, rs553369182, rs781661592, rs397514716 RCV001535922
RCV001783780
RCV001802483
RCV002647649
RCV000006888
RCV003741504
RCV003740696
RCV003740865
RCV000050251
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia - rs517297 RCV006071230
Clear cell carcinoma of kidney Uncertain significance rs375386551 RCV005938171
Hepatocellular carcinoma Benign rs9576126 RCV005925081
Lung cancer confers sensitivity rs7333607 RCV001528158
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 33648465
Adenoma Associate 18008360
Alzheimer Disease Associate 36764297
Arteriovenous Malformations Inhibit 36198763
Autistic Disorder Associate 12826745
Breast Neoplasms Associate 39940786
Carcinoma Non Small Cell Lung Inhibit 32150102
Carcinoma Ovarian Epithelial Associate 34110955
Chondrosarcoma Associate 23088614
Colorectal Neoplasms Associate 31545230, 37373155